Variant report

Variant	nsv587688
Chromosome Location	chr21:44864079-44874702
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:462)
CpG islands
(count:856)
Chromatin interactive
region (count:55)
LncRNA
region (count:25)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:462 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr21:44873992-44874530	GM12878	blood:	n/a	n/a
2	ATF3	chr21:44866239-44866536	K562	blood:	n/a	chr21:44866342-44866362 chr21:44866430-44866440 chr21:44866427-44866440 chr21:44866428-44866439 chr21:44866428-44866439
3	ATF3	chr21:44866146-44866579	A549	lung:	n/a	chr21:44866342-44866362 chr21:44866430-44866440 chr21:44866427-44866440 chr21:44866428-44866439 chr21:44866428-44866439
4	BCL3	chr21:44865993-44866658	A549	lung:	n/a	chr21:44866357-44866370 chr21:44866073-44866086
5	BCL3	chr21:44866162-44866690	A549	lung:	n/a	chr21:44866357-44866370
6	BHLHE40	chr21:44866170-44866710	K562	blood:	n/a	n/a
7	BHLHE40	chr21:44866231-44866573	A549	lung:	n/a	n/a
8	BRCA1	chr21:44865641-44866835	Hela-S3	cervix:	n/a	n/a
9	BRCA1	chr21:44865254-44865346	Hela-S3	cervix:	n/a	n/a
10	CBX3	chr21:44867456-44867874	K562	blood:	n/a	n/a
11	CBX3	chr21:44867493-44867804	K562	blood:	n/a	n/a
12	CBX3	chr21:44866403-44866797	K562	blood:	n/a	n/a
13	CCNT2	chr21:44870986-44871035	K562	blood:	n/a	n/a
14	CCNT2	chr21:44866351-44866672	K562	blood:	n/a	chr21:44866402-44866411
15	CEBPB	chr21:44865751-44867150	Hela-S3	cervix:	n/a	n/a
16	CEBPB	chr21:44874131-44874414	IMR90	lung:	n/a	n/a
17	CHD2	chr21:44865773-44867052	Hela-S3	cervix:	n/a	n/a
18	CREB1	chr21:44873910-44874636	GM12878	blood:	n/a	n/a
19	CREB1	chr21:44865871-44866782	A549	lung:	n/a	n/a
20	CREB1	chr21:44866029-44866609	A549	lung:	n/a	n/a
21	CREB1	chr21:44874072-44874630	GM12878	blood:	n/a	n/a
22	CTCF	chr21:44866526-44866787	GM12878	blood:	n/a	n/a
23	CTCF	chr21:44867560-44867710	AG04449	skin:	n/a	n/a
24	CTCF	chr21:44866500-44866650	NB4	blood:	n/a	n/a
25	CTCF	chr21:44867580-44867730	HBMEC	blood vessel:	n/a	n/a
26	CTCF	chr21:44866472-44866762	K562	blood:	n/a	n/a
27	CTCF	chr21:44867600-44867750	SAEC	small airway:	n/a	n/a
28	CTCF	chr21:44867540-44867690	HPF	lung:	n/a	n/a
29	CTCF	chr21:44867559-44867743	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr21:44867560-44867710	HCFaa	heart:	n/a	n/a
31	CTCF	chr21:44867540-44867690	AG10803	skin:	n/a	n/a
32	CTCF	chr21:44867560-44867710	GM12878	blood:	n/a	n/a
33	CTCF	chr21:44867620-44867770	HA-sp	spinal cord:	n/a	n/a
34	CTCF	chr21:44867516-44867799	K562	blood:	n/a	n/a
35	CTCF	chr21:44867615-44867693	MCF-7	breast:	n/a	n/a
36	CTCF	chr21:44866656-44866739	IMR90	lung:	n/a	n/a
37	CTCF	chr21:44866560-44866710	HCT-116	colon:	n/a	n/a
38	CTCF	chr21:44866475-44866851	K562	blood:	n/a	n/a
39	CTCF	chr21:44864180-44864330	AG04449	skin:	n/a	n/a
40	CTCF	chr21:44867580-44867730	K562	blood:	n/a	n/a
41	CTCF	chr21:44867540-44867690	GM12869	blood:	n/a	n/a
42	CTCF	chr21:44867520-44867670	GM12871	blood:	n/a	n/a
43	CTCF	chr21:44867560-44867710	Hela-S3	cervix:	n/a	n/a
44	CTCF	chr21:44867520-44867670	NHLF	lung:	n/a	n/a
45	CTCF	chr21:44866553-44866762	Pancreas_OC	pancreas:	n/a	n/a
46	CTCF	chr21:44866860-44867010	K562	blood:	n/a	n/a
47	CTCF	chr21:44866632-44866716	GM12892	blood:	n/a	n/a
48	CTCF	chr21:44867473-44867476	Lung_OC	lung:	n/a	n/a
49	CTCF	chr21:44867560-44867710	GM12864	blood:	n/a	n/a
50	CTCF	chr21:44866575-44866762	H1-hESC	embryonic stem cell:	n/a	n/a

(count:856 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:44864600-44864650	HEK293	kidney:	embryo
2	chr21:44864600-44864650	K562	blood:	n/a
3	chr21:44864600-44864650	HEK293	kidney:	embryo
4	chr21:44864600-44864650	K562	blood:	n/a
5	chr21:44864361-44864411	GM12878	blood:	n/a
6	chr21:44868906-44868956	H1-hESC	embryonic stem cell:	embryo
7	chr21:44873295-44873345	PrEC	prostate:	n/a
8	chr21:44873295-44873345	HRE	kidney:	n/a
9	chr21:44864600-44864650	GM12878	blood:	n/a
10	chr21:44868906-44868956	HPAEpiC	pulmonary alveolar:	n/a
11	chr21:44869885-44869935	HMEC	breast:	n/a
12	chr21:44869258-44869308	HMEC	breast:	n/a
13	chr21:44869785-44869835	Hepatocyte	liver:	n/a
14	chr21:44870270-44870320	SK-N-MC	brain:	n/a
15	chr21:44869862-44869912	HCT-116	colon:	n/a
16	chr21:44869885-44869935	BE2_C	brain:	n/a
17	chr21:44864361-44864411	AG04450	lung:	fetal
18	chr21:44870270-44870320	HUVEC	blood vessel:	n/a
19	chr21:44869762-44869812	NH-A	brain:	n/a
20	chr21:44865764-44865814	NHBE	bronchial:	n/a
21	chr21:44864361-44864411	PrEC	prostate:	n/a
22	chr21:44864600-44864650	PFSK-1	brain:	n/a
23	chr21:44864361-44864411	HL-60	blood:	n/a
24	chr21:44869682-44869732	GM12892	blood:	n/a
25	chr21:44864600-44864650	HRPEpiC	eye:	n/a
26	chr21:44868906-44868956	K562	blood:	n/a
27	chr21:44868906-44868956	NHBE	bronchial:	n/a
28	chr21:44869682-44869732	HEEpiC	esophagus:	n/a
29	chr21:44869785-44869835	AG09319	gingival:	n/a
30	chr21:44869885-44869935	HRE	kidney:	n/a
31	chr21:44864600-44864650	AG09319	gingival:	n/a
32	chr21:44869885-44869935	HL-60	blood:	n/a
33	chr21:44868948-44868998	HRCEpiC	kidney:	n/a
34	chr21:44864600-44864650	ovcar-3	ovarian:	n/a
35	chr21:44869682-44869732	AG04450	lung:	fetal
36	chr21:44869258-44869308	Jurkat	blood:	n/a
37	chr21:44868906-44868956	AG10803	skin:	n/a
38	chr21:44865764-44865814	CMK	blood:	n/a
39	chr21:44869258-44869308	ovcar-3	ovarian:	n/a
40	chr21:44868948-44868998	SK-N-SH_RA	brain:	n/a
41	chr21:44869258-44869308	BE2_C	brain:	n/a
42	chr21:44868948-44868998	K562	blood:	n/a
43	chr21:44869762-44869812	IMR90	lung:	fetal
44	chr21:44870270-44870320	AG09309	skin:	n/a
45	chr21:44868906-44868956	HCPEpiC	choroid plexus:	n/a
46	chr21:44867263-44867313	SK-N-MC	brain:	n/a
47	chr21:44870270-44870320	GM12891	blood:	n/a
48	chr21:44867263-44867313	NHBE	bronchial:	n/a
49	chr21:44867263-44867313	HCM	heart:	n/a
50	chr21:44869785-44869835	GM12878	blood:	n/a

(count:55 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr21:44866366..44868087-chr21:44868239..44871091,2	MCF-7	breast:
2	chr21:44582262..44583964-chr21:44870568..44872491,2	MCF-7	breast:
3	chr21:44866574..44868384-chr21:44921844..44924261,3	MCF-7	breast:
4	chr21:44847637..44848138-chr21:44864331..44864965,2	Hela-S3	cervix:
5	chr1:161369557..161370167-chr21:44865534..44866035,2	Hela-S3	cervix:
6	chr21:44871086..44873252-chr21:44875393..44877647,3	K562	blood:
7	chr21:44757949..44760610-chr21:44866735..44869231,2	MCF-7	breast:
8	chr21:44870036..44872760-chr21:44874681..44876370,2	MCF-7	breast:
9	chr16:57836383..57837236-chr21:44864752..44865379,2	Hela-S3	cervix:
10	chr21:38444953..38445504-chr21:44865349..44866176,2	Hela-S3	cervix:
11	chr21:44866923..44869837-chr21:44897348..44898850,2	MCF-7	breast:
12	chr21:44865824..44866471-chr6:160113909..160114880,2	Hela-S3	cervix:
13	chr21:44866839..44869557-chr21:44874645..44877226,3	MCF-7	breast:
14	chr21:44870027..44872296-chr21:44872310..44874913,2	MCF-7	breast:
15	chr21:44866839..44869557-chr21:44874645..44877226,3	MCF-7	breast:
16	chr21:44865967..44867477-chr21:44871611..44873859,2	K562	blood:
17	chr21:44867624..44869874-chr21:44871869..44874699,2	K562	blood:
18	chr1:70819842..70820538-chr21:44865952..44866901,2	Hela-S3	cervix:
19	chr20:60916095..60916842-chr21:44865570..44866473,2	Hela-S3	cervix:
20	chr21:44864230..44866337-chr21:44922192..44925093,2	MCF-7	breast:
21	chr11:46258674..46259334-chr21:44865342..44866086,2	Hela-S3	cervix:
22	chr21:44846498..44849129-chr21:44874254..44876007,2	K562	blood:
23	chr21:44870036..44872760-chr21:44874681..44876370,2	MCF-7	breast:
24	chr21:44844655..44848445-chr21:44860622..44864995,4	K562	blood:
25	chr21:44863698..44865894-chr21:44867364..44869009,2	K562	blood:
26	chr21:44867624..44869874-chr21:44871869..44874699,2	K562	blood:
27	chr21:44865001..44865628-chr7:7222151..7222751,2	Hela-S3	cervix:
28	chr21:44867360..44868094-chr21:45065218..45066020,3	MCF-7	breast:
29	chr21:44597050..44598895-chr21:44866871..44869287,2	MCF-7	breast:
30	chr21:44855996..44858393-chr21:44863025..44865535,2	MCF-7	breast:
31	chr21:44845514..44848282-chr21:44863582..44866798,3	MCF-7	breast:
32	chr21:44873064..44875502-chr21:44884257..44887113,2	K562	blood:
33	chr16:25268818..25269473-chr21:44865000..44865891,2	Hela-S3	cervix:
34	chr1:179851298..179851948-chr21:44865730..44866447,2	Hela-S3	cervix:
35	chr21:44866366..44868087-chr21:44868239..44871091,2	MCF-7	breast:
36	chr11:65190384..65191206-chr21:44865591..44866142,2	Hela-S3	cervix:
37	chr21:44868253..44869862-chr21:44873138..44875679,2	MCF-7	breast:
38	chr1:212731654..212732474-chr21:44864940..44865899,2	Hela-S3	cervix:
39	chr21:44856722..44860442-chr21:44872763..44876601,3	MCF-7	breast:
40	chr21:44870566..44873425-chr21:44917940..44920112,2	MCF-7	breast:
41	chr21:44870502..44872500-chr21:44876029..44877789,2	MCF-7	breast:
42	chr21:44873317..44875504-chr21:44876152..44877822,2	MCF-7	breast:
43	chr21:44868612..44870635-chr21:44890162..44893361,3	MCF-7	breast:
44	chr12:125395880..125396766-chr21:44865907..44866426,2	Hela-S3	cervix:
45	chr21:44865966..44866750-chr9:91933133..91933696,2	Hela-S3	cervix:
46	chr21:44873925..44876405-chr21:44896516..44898228,2	MCF-7	breast:
47	chr12:64237911..64238461-chr21:44865344..44866127,2	Hela-S3	cervix:
48	chr21:44868253..44869862-chr21:44873138..44875679,2	MCF-7	breast:
49	chr21:44873264..44874888-chr21:44912056..44914659,2	MCF-7	breast:
50	chr21:44843469..44848793-chr21:44863960..44868998,7	MCF-7	breast:

(count:25 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RRP1B-3	chr21:44871053-44872385	NONHSAT082407
2	lnc-SIK1-3	chr21:44874118-44874159	XLOC_014106
3	lnc-RRP1B-3	chr21:44873001-44873769	XLOC_013964
4	lnc-SIK1-3	chr21:44874331-44874433	NONHSAT082411
5	lnc-RRP1B-3	chr21:44868647-44868950	XLOC_013964
6	lnc-RRP1B-3	chr21:44873001-44873773	ENSG00000188660
7	lnc-SIK1-3	chr21:44872957-44873981	XLOC_014106
8	lnc-RRP1B-3	chr21:44866481-44866681	NONHSAT082409
9	lnc-RRP1B-3	chr21:44866744-44866779	NONHSAT082409
10	lnc-RRP1B-3	chr21:44873001-44873771	NR_026960
11	lnc-RRP1B-3	chr21:44871053-44872385	ENSG00000188660
12	lnc-RRP1B-3	chr21:44871053-44872385	NR_026960
13	lnc-RRP1B-3	chr21:44870619-44870801	XLOC_013964
14	lnc-SIK1-3	chr21:44873001-44873981	NONHSAT082411
15	lnc-RRP1B-3	chr21:44868647-44868950	NONHSAT082409
16	lnc-RRP1B-3	chr21:44869904-44870801	NR_026960
17	lnc-RRP1B-3	chr21:44871053-44873765	NONHSAT082409
18	lnc-RRP1B-3	chr21:44871053-44873773	XLOC_013964
19	lnc-RRP1B-3	chr21:44869904-44870801	ENSG00000188660
20	lnc-RRP1B-3	chr21:44866481-44866779	XLOC_013964
21	lnc-RRP1B-3	chr21:44871053-44872385	XLOC_013964
22	lnc-RRP1B-3	chr21:44864600-44870801	NONHSAT082407
23	lnc-RRP1B-3	chr21:44869904-44870801	XLOC_013964
24	lnc-RRP1B-3	chr21:44873001-44873981	NONHSAT082407
25	lnc-RRP1B-3	chr21:44870619-44870801	NONHSAT082409

No data

Variant related genes	Relation type
LINC00319	TF binding region
LINC00319	CpG island
ENSG00000197568	chromatin interactions
ENSG00000185808	chromatin interactions
ENSG00000112096	chromatin interactions
ENSG00000272906	chromatin interactions
ENSG00000142178	chromatin interactions
ENSG00000196935	chromatin interactions
ENSG00000187742	chromatin interactions
ENSG00000228120	chromatin interactions
ENSG00000188660	chromatin interactions
ENSG00000155592	chromatin interactions
ENSG00000106392	chromatin interactions
ENSG00000143337	chromatin interactions
ENSG00000004897	chromatin interactions
ENSG00000223975	chromatin interactions
ENSG00000140859	chromatin interactions
ENSG00000118454	chromatin interactions
ENSG00000185186	chromatin interactions
KCNC1	miRNA target sites
ADCY6	miRNA target sites

Extended variants
information (count: 523 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:523 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs162352	chr21:44864079-44864080	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs369872334	chr21:44864088-44864089	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs543200351	chr21:44864090-44864091	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs73223039	chr21:44864091-44864092	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs140736682	chr21:44864112-44864113	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs573252216	chr21:44864136-44864137	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs575746913	chr21:44864137-44864138	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs540761529	chr21:44864152-44864153	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs117983112	chr21:44864184-44864185	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs554914796	chr21:44864204-44864205	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs573488877	chr21:44864214-44864215	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs540437218	chr21:44864257-44864258	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs565496625	chr21:44864276-44864277	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs532840625	chr21:44864281-44864282	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs544737224	chr21:44864307-44864308	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs144576027	chr21:44864332-44864333	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs573073748	chr21:44864343-44864344	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs530471653	chr21:44864350-44864351	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs377116439	chr21:44864353-44864354	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs567409075	chr21:44864355-44864356	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs373733805	chr21:44864361-44864362	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs546452662	chr21:44864364-44864365	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs138537019	chr21:44864367-44864368	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs539121297	chr21:44864371-44864372	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs557534719	chr21:44864372-44864373	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs59030365	chr21:44864373-44864374	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs536209129	chr21:44864383-44864384	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs542133500	chr21:44864384-44864385	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs573429017	chr21:44864436-44864437	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs540947837	chr21:44864437-44864438	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs34495948	chr21:44864449-44864450	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs558709614	chr21:44864501-44864502	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs532343616	chr21:44864510-44864511	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs550577491	chr21:44864511-44864512	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs577064644	chr21:44864530-44864531	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs562403114	chr21:44864539-44864540	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs369410955	chr21:44864545-44864546	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs150326019	chr21:44864546-44864547	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs530530360	chr21:44864551-44864552	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs162351	chr21:44864555-44864556	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs560963605	chr21:44864563-44864564	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs143260547	chr21:44864580-44864581	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs528354746	chr21:44864588-44864589	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs11283156	chr21:44864589-44864590	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs116694075	chr21:44864600-44864601	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
46	rs138001946	chr21:44864616-44864617	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
47	rs114532210	chr21:44864691-44864692	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
48	rs550801436	chr21:44864692-44864693	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
49	rs569337508	chr21:44864710-44864711	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
50	rs115499616	chr21:44864711-44864712	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Down syndrome	17412756	CNVD
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Renal cell carcinoma	19461508	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Melanoma	18172304	CNVD
Autism	22958593	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Wilms tumour	21544195	CNVD
Ewing''s sarcoma	17952124	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute myeloid leukemia	16864856	CNVD
Mental retardation	21031080	CNVD
Polymicrogyria	21031080	CNVD
periventricular nodular heterotopia	21031080	CNVD
Myelodysplastic syndrome	21606161	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21858162	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17899364	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Breast cancer	21364760	CNVD
Glioblastoma multiforme	18628472	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	17457615	CNVD
Ewing''s sarcoma	21437220	CNVD
Lung adenocarcinoma	17086460	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute myeloid leukemia	21358987	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	23341502	CNVD
Ovarian cancer	21720365	CNVD
Urothelial carcinoma	21177765	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Prostate cancer	18632612	CNVD
Neuroblastoma	20406844	CNVD
Acute myeloid leukemia	21251322	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Cholangiocarcinoma	16830362	CNVD
Down syndrome	17334655	CNVD
Neuroticism	17667963	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Autoimmune polyendocrine syndrome	18200029	CNVD
Prostate cancer	19363497	CNVD
Lung cancer	17086460	CNVD
Olfactory neuroblastoma	18408657	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Multiple myeloma	16616336	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21509527	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	17142309	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:387 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44856800-44873200	Enhancers	Placenta	Placenta
2	chr21:44857400-44866000	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr21:44858800-44867800	Enhancers	Fetal Intestine Small	intestine
4	chr21:44859400-44883600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr21:44859800-44864800	Enhancers	HMEC	breast
6	chr21:44860600-44865200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr21:44861200-44864600	Weak transcription	GM12878-XiMat	blood
8	chr21:44861200-44865800	Enhancers	Duodenum Mucosa	Duodenum
9	chr21:44861400-44865200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr21:44861400-44865400	Enhancers	Esophagus	oesophagus
11	chr21:44861600-44866400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr21:44861800-44869200	Weak transcription	Fetal Brain Female	brain
13	chr21:44862000-44864200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr21:44862000-44864200	Enhancers	Right Ventricle	heart
15	chr21:44862000-44864600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr21:44862000-44870400	Enhancers	A549	lung
17	chr21:44862200-44866800	Weak transcription	Liver	Liver
18	chr21:44862600-44865000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
19	chr21:44862600-44868200	Enhancers	Spleen	Spleen
20	chr21:44862800-44864200	Enhancers	Muscle Satellite Cultured Cells	--
21	chr21:44862800-44864200	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr21:44862800-44864800	Enhancers	Fetal Brain Male	brain
23	chr21:44862800-44865000	Enhancers	HSMMtube	muscle
24	chr21:44862800-44867000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
25	chr21:44863000-44864200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
26	chr21:44863000-44865000	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr21:44863200-44865000	Weak transcription	Small Intestine	intestine
28	chr21:44863200-44865200	Enhancers	Fetal Lung	lung
29	chr21:44863200-44865200	Weak transcription	Pancreas	Pancrea
30	chr21:44863200-44865400	Weak transcription	Gastric	stomach
31	chr21:44863200-44867600	Weak transcription	Left Ventricle	heart
32	chr21:44863400-44864600	Weak transcription	NHEK	skin
33	chr21:44863400-44865800	Bivalent Enhancer	Fetal Stomach	stomach
34	chr21:44863400-44877200	Weak transcription	Right Atrium	heart
35	chr21:44863600-44864400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
36	chr21:44863600-44864800	Active TSS	Thymus	Thymus
37	chr21:44863600-44864800	Flanking Active TSS	Dnd41	blood
38	chr21:44863600-44865800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr21:44863600-44866400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr21:44863800-44864400	Flanking Active TSS	HSMM	muscle
41	chr21:44863800-44864800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr21:44863800-44864800	Weak transcription	HepG2	liver
43	chr21:44863800-44865400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr21:44863800-44865600	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr21:44863800-44865800	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr21:44863800-44866400	Bivalent Enhancer	Fetal Muscle Leg	muscle
47	chr21:44864000-44864200	Enhancers	Fetal Thymus	thymus
48	chr21:44864000-44864400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr21:44864000-44864400	Flanking Active TSS	Colonic Mucosa	Colon
50	chr21:44864000-44864400	Active TSS	Lung	lung

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