Variant report

Variant	nsv587687
Chromosome Location	chr21:44860542-44874702
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:727)
CpG islands
(count:1160)
Chromatin interactive
region (count:69)
LncRNA
region (count:25)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:727 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr21:44860645-44861351	HepG2	liver:	n/a	n/a
2	ATF2	chr21:44873992-44874530	GM12878	blood:	n/a	n/a
3	ATF3	chr21:44860618-44861375	A549	lung:	n/a	chr21:44860942-44860952 chr21:44860939-44860952
4	ATF3	chr21:44866146-44866579	A549	lung:	n/a	chr21:44866342-44866362 chr21:44866430-44866440 chr21:44866427-44866440 chr21:44866428-44866439 chr21:44866428-44866439
5	ATF3	chr21:44866239-44866536	K562	blood:	n/a	chr21:44866342-44866362 chr21:44866430-44866440 chr21:44866427-44866440 chr21:44866428-44866439 chr21:44866428-44866439
6	ATF3	chr21:44860603-44861562	A549	lung:	n/a	chr21:44860942-44860952 chr21:44860939-44860952
7	BCL3	chr21:44866162-44866690	A549	lung:	n/a	chr21:44866357-44866370
8	BCL3	chr21:44860749-44861049	GM12878	blood:	n/a	n/a
9	BCL3	chr21:44860286-44861960	A549	lung:	n/a	chr21:44861341-44861350
10	BCL3	chr21:44865993-44866658	A549	lung:	n/a	chr21:44866357-44866370 chr21:44866073-44866086
11	BCL3	chr21:44860227-44861862	A549	lung:	n/a	chr21:44861341-44861350
12	BHLHE40	chr21:44866231-44866573	A549	lung:	n/a	n/a
13	BHLHE40	chr21:44860774-44861436	HepG2	liver:	n/a	n/a
14	BHLHE40	chr21:44866170-44866710	K562	blood:	n/a	n/a
15	BRCA1	chr21:44865254-44865346	Hela-S3	cervix:	n/a	n/a
16	BRCA1	chr21:44860375-44862011	Hela-S3	cervix:	n/a	n/a
17	BRCA1	chr21:44865641-44866835	Hela-S3	cervix:	n/a	n/a
18	CBX3	chr21:44867493-44867804	K562	blood:	n/a	n/a
19	CBX3	chr21:44866403-44866797	K562	blood:	n/a	n/a
20	CBX3	chr21:44867456-44867874	K562	blood:	n/a	n/a
21	CCNT2	chr21:44866351-44866672	K562	blood:	n/a	chr21:44866402-44866411
22	CCNT2	chr21:44870986-44871035	K562	blood:	n/a	n/a
23	CEBPB	chr21:44860816-44861281	MCF-7	breast:	n/a	chr21:44861022-44861033 chr21:44861021-44861032 chr21:44861023-44861032
24	CEBPB	chr21:44860845-44861210	HepG2	liver:	n/a	chr21:44861022-44861033 chr21:44861021-44861032 chr21:44861023-44861032
25	CEBPB	chr21:44860712-44861377	HepG2	liver:	n/a	chr21:44861022-44861033 chr21:44861021-44861032 chr21:44861023-44861032
26	CEBPB	chr21:44860903-44861077	H1-hESC	embryonic stem cell:	n/a	chr21:44861022-44861033 chr21:44861021-44861032 chr21:44861023-44861032
27	CEBPB	chr21:44862609-44862776	Hela-S3	cervix:	n/a	n/a
28	CEBPB	chr21:44860363-44861576	A549	lung:	n/a	chr21:44861022-44861033 chr21:44861021-44861032 chr21:44861023-44861032
29	CEBPB	chr21:44860788-44861263	HepG2	liver:	n/a	chr21:44861022-44861033 chr21:44861021-44861032 chr21:44861023-44861032
30	CEBPB	chr21:44860688-44861422	A549	lung:	n/a	chr21:44861022-44861033 chr21:44861021-44861032 chr21:44861023-44861032
31	CEBPB	chr21:44860918-44861158	K562	blood:	n/a	chr21:44861022-44861033 chr21:44861021-44861032 chr21:44861023-44861032
32	CEBPB	chr21:44862622-44862654	IMR90	lung:	n/a	n/a
33	CEBPB	chr21:44863260-44863533	Hela-S3	cervix:	n/a	n/a
34	CEBPB	chr21:44860743-44861270	HepG2	liver:	n/a	chr21:44861022-44861033 chr21:44861021-44861032 chr21:44861023-44861032
35	CEBPB	chr21:44874131-44874414	IMR90	lung:	n/a	n/a
36	CEBPB	chr21:44860408-44861605	Hela-S3	cervix:	n/a	chr21:44861022-44861033 chr21:44861021-44861032 chr21:44861023-44861032
37	CEBPB	chr21:44860674-44861482	A549	lung:	n/a	chr21:44861022-44861033 chr21:44861021-44861032 chr21:44861023-44861032
38	CEBPB	chr21:44865751-44867150	Hela-S3	cervix:	n/a	n/a
39	CEBPB	chr21:44861917-44862067	Hela-S3	cervix:	n/a	n/a
40	CEBPB	chr21:44860856-44861200	K562	blood:	n/a	chr21:44861022-44861033 chr21:44861021-44861032 chr21:44861023-44861032
41	CEBPB	chr21:44860704-44861262	HCT-116	colon:	n/a	chr21:44861022-44861033 chr21:44861021-44861032 chr21:44861023-44861032
42	CEBPB	chr21:44860743-44861213	IMR90	lung:	n/a	chr21:44861022-44861033 chr21:44861021-44861032 chr21:44861023-44861032
43	CEBPD	chr21:44860830-44861218	HepG2	liver:	n/a	n/a
44	CEBPD	chr21:44860724-44861481	HepG2	liver:	n/a	n/a
45	CHD2	chr21:44860811-44861569	HepG2	liver:	n/a	n/a
46	CHD2	chr21:44865773-44867052	Hela-S3	cervix:	n/a	n/a
47	CHD2	chr21:44863166-44863562	Hela-S3	cervix:	n/a	n/a
48	CHD2	chr21:44860367-44862004	Hela-S3	cervix:	n/a	n/a
49	CREB1	chr21:44860570-44861770	HepG2	liver:	n/a	n/a
50	CREB1	chr21:44860704-44862003	A549	lung:	n/a	chr21:44861947-44861960

(count:1160 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:44863962-44864012	U87	brain:	n/a
2	chr21:44863962-44864012	U87	brain:	n/a
3	chr21:44869885-44869935	HL-60	blood:	n/a
4	chr21:44865764-44865814	K562	blood:	n/a
5	chr21:44869885-44869935	HCF	heart:	n/a
6	chr21:44869762-44869812	HUVEC	blood vessel:	n/a
7	chr21:44867263-44867313	Jurkat	blood:	n/a
8	chr21:44869785-44869835	HUVEC	blood vessel:	n/a
9	chr21:44862425-44862475	GM12892	blood:	n/a
10	chr21:44863962-44864012	HCPEpiC	choroid plexus:	n/a
11	chr21:44869762-44869812	PrEC	prostate:	n/a
12	chr21:44863611-44863661	U87	brain:	n/a
13	chr21:44864004-44864054	CMK	blood:	n/a
14	chr21:44863962-44864012	AG04449	skin:	fetal
15	chr21:44869682-44869732	GM12891	blood:	n/a
16	chr21:44864004-44864054	BJ	skin:	n/a
17	chr21:44861617-44861667	AG09319	gingival:	n/a
18	chr21:44869762-44869812	LNCaP	prostate:	n/a
19	chr21:44861617-44861667	HNPCEpiC	eye:	n/a
20	chr21:44873295-44873345	LNCaP	prostate:	n/a
21	chr21:44867263-44867313	SK-N-SH	brain:	n/a
22	chr21:44865764-44865814	HUVEC	blood vessel:	n/a
23	chr21:44865764-44865814	PFSK-1	brain:	n/a
24	chr21:44865764-44865814	A549	lung:	n/a
25	chr21:44864361-44864411	Hepatocyte	liver:	n/a
26	chr21:44869862-44869912	GM12892	blood:	n/a
27	chr21:44861617-44861667	HCPEpiC	choroid plexus:	n/a
28	chr21:44869762-44869812	A549	lung:	n/a
29	chr21:44868906-44868956	HEEpiC	esophagus:	n/a
30	chr21:44868906-44868956	HAEpiC	amniotic membrane:	n/a
31	chr21:44869682-44869732	NHBE	bronchial:	n/a
32	chr21:44868906-44868956	GM06990	blood:	n/a
33	chr21:44869258-44869308	SK-N-SH	brain:	n/a
34	chr21:44869885-44869935	LNCaP	prostate:	n/a
35	chr21:44869862-44869912	SAEC	small airway:	n/a
36	chr21:44869862-44869912	AG10803	skin:	n/a
37	chr21:44861617-44861667	Hela-S3	cervix:	n/a
38	chr21:44867263-44867313	PrEC	prostate:	n/a
39	chr21:44868906-44868956	HepG2	liver:	n/a
40	chr21:44867263-44867313	HCT-116	colon:	n/a
41	chr21:44869885-44869935	PANC-1	pancreas:	n/a
42	chr21:44869862-44869912	NHBE	bronchial:	n/a
43	chr21:44867263-44867313	GM12892	blood:	n/a
44	chr21:44867263-44867313	IMR90	lung:	fetal
45	chr21:44869862-44869912	NHDF-neo	bronchial:	n/a
46	chr21:44869885-44869935	HEK293	kidney:	embryo
47	chr21:44867263-44867313	HRPEpiC	eye:	n/a
48	chr21:44869682-44869732	HCT-116	colon:	n/a
49	chr21:44869862-44869912	H1-hESC	embryonic stem cell:	embryo
50	chr21:44864600-44864650	GM12891	blood:	n/a

(count:69 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr21:44863698..44865894-chr21:44867364..44869009,2	K562	blood:
2	chr1:179851298..179851948-chr21:44865730..44866447,2	Hela-S3	cervix:
3	chr21:44871717..44874236-chr21:44949940..44952677,2	K562	blood:
4	chr21:44849921..44853234-chr21:44860394..44863956,3	MCF-7	breast:
5	chr21:44867360..44868094-chr21:45065218..45066020,3	MCF-7	breast:
6	chr1:161369557..161370167-chr21:44865534..44866035,2	Hela-S3	cervix:
7	chr16:57836383..57837236-chr21:44864752..44865379,2	Hela-S3	cervix:
8	chr21:44845446..44849726-chr21:44859252..44862423,6	MCF-7	breast:
9	chr21:44868253..44869862-chr21:44873138..44875679,2	MCF-7	breast:
10	chr11:46258674..46259334-chr21:44865342..44866086,2	Hela-S3	cervix:
11	chr21:44843469..44848793-chr21:44863960..44868998,7	MCF-7	breast:
12	chr1:212731654..212732474-chr21:44864940..44865899,2	Hela-S3	cervix:
13	chr21:44865966..44866750-chr9:91933133..91933696,2	Hela-S3	cervix:
14	chr21:44865967..44867477-chr21:44871611..44873859,2	K562	blood:
15	chr16:25268818..25269473-chr21:44865000..44865891,2	Hela-S3	cervix:
16	chr21:44858418..44861523-chr21:44913554..44916370,3	MCF-7	breast:
17	chr21:44861251..44863206-chr21:44921382..44923569,3	MCF-7	breast:
18	chr21:44868253..44869862-chr21:44873138..44875679,2	MCF-7	breast:
19	chr21:44866923..44869837-chr21:44897348..44898850,2	MCF-7	breast:
20	chr21:44873317..44875504-chr21:44876152..44877822,2	MCF-7	breast:
21	chr21:44860437..44861265-chr3:149094930..149095524,2	Hela-S3	cervix:
22	chr21:44866366..44868087-chr21:44868239..44871091,2	MCF-7	breast:
23	chr21:44597050..44598895-chr21:44866871..44869287,2	MCF-7	breast:
24	chr21:44866839..44869557-chr21:44874645..44877226,3	MCF-7	breast:
25	chr1:70819842..70820538-chr21:44865952..44866901,2	Hela-S3	cervix:
26	chr21:44864230..44866337-chr21:44922192..44925093,2	MCF-7	breast:
27	chr21:44863034..44863852-chr7:91570057..91570757,2	Hela-S3	cervix:
28	chr21:44856722..44860442-chr21:44872763..44876601,3	MCF-7	breast:
29	chr21:44844655..44848445-chr21:44860622..44864995,4	K562	blood:
30	chr21:44868612..44870635-chr21:44890162..44893361,3	MCF-7	breast:
31	chr21:44873264..44874888-chr21:44912056..44914659,2	MCF-7	breast:
32	chr21:44803166..44805208-chr21:44860912..44863687,2	MCF-7	breast:
33	chr21:44855996..44858393-chr21:44863025..44865535,2	MCF-7	breast:
34	chr21:44870027..44872296-chr21:44872310..44874913,2	MCF-7	breast:
35	chr21:44870027..44872296-chr21:44872310..44874913,2	MCF-7	breast:
36	chr11:65190384..65191206-chr21:44865591..44866142,2	Hela-S3	cervix:
37	chr21:44867624..44869874-chr21:44871869..44874699,2	K562	blood:
38	chr12:125395880..125396766-chr21:44865907..44866426,2	Hela-S3	cervix:
39	chr21:44866839..44869557-chr21:44874645..44877226,3	MCF-7	breast:
40	chr21:44863698..44865894-chr21:44867364..44869009,2	K562	blood:
41	chr21:44582262..44583964-chr21:44870568..44872491,2	MCF-7	breast:
42	chr21:44865824..44866471-chr6:160113909..160114880,2	Hela-S3	cervix:
43	chr21:44867624..44869874-chr21:44871869..44874699,2	K562	blood:
44	chr17:45266574..45267127-chr21:44864899..44865582,2	Hela-S3	cervix:
45	chr21:44871086..44873252-chr21:44875393..44877647,3	K562	blood:
46	chr21:44870036..44872760-chr21:44874681..44876370,2	MCF-7	breast:
47	chr21:44870566..44873425-chr21:44917940..44920112,2	MCF-7	breast:
48	chr21:44757949..44760610-chr21:44866735..44869231,2	MCF-7	breast:
49	chr21:44873064..44875502-chr21:44884257..44887113,2	K562	blood:
50	chr21:44850854..44853003-chr21:44861192..44863321,2	K562	blood:

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

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

No data

Variant related genes	Relation type
LINC00319	TF binding region
LINC00319	CpG island
ENSG00000127914	chromatin interactions
ENSG00000228120	chromatin interactions
ENSG00000188641	chromatin interactions
ENSG00000142178	chromatin interactions
ENSG00000185808	chromatin interactions
ENSG00000155592	chromatin interactions
ENSG00000004897	chromatin interactions
ENSG00000188660	chromatin interactions
ENSG00000185186	chromatin interactions
ENSG00000187742	chromatin interactions
ENSG00000140859	chromatin interactions
ENSG00000112096	chromatin interactions
ENSG00000143337	chromatin interactions
ENSG00000169908	chromatin interactions
ENSG00000106392	chromatin interactions
ENSG00000223975	chromatin interactions
ENSG00000272906	chromatin interactions
ENSG00000118454	chromatin interactions
ENSG00000197568	chromatin interactions
ENSG00000196935	chromatin interactions
KCNC1	miRNA target sites
ADCY6	miRNA target sites

Extended variants
information (count: 669 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:669 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs459262	chr21:44860542-44860543	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs373891189	chr21:44860562-44860563	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs193170955	chr21:44860574-44860575	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs568375180	chr21:44860666-44860667	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs535766554	chr21:44860671-44860672	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs369433075	chr21:44860715-44860716	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs578186528	chr21:44860742-44860743	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs533639192	chr21:44860772-44860773	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs183283952	chr21:44860866-44860867	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs367784366	chr21:44860889-44860890	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs148034992	chr21:44860926-44860927	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs7278311	chr21:44860930-44860931	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs141764004	chr21:44860931-44860932	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs187819961	chr21:44860938-44860939	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs545758835	chr21:44860939-44860940	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs551784921	chr21:44860945-44860946	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs114772415	chr21:44860952-44860953	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs115760496	chr21:44860959-44860960	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs376823312	chr21:44860996-44860997	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs537135334	chr21:44860998-44860999	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs552387878	chr21:44861020-44861021	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs564195863	chr21:44861036-44861037	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs531702767	chr21:44861065-44861066	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs113626383	chr21:44861092-44861093	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs7282498	chr21:44861167-44861168	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs201892049	chr21:44861187-44861188	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs568142399	chr21:44861189-44861190	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs535729743	chr21:44861200-44861201	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs548107047	chr21:44861256-44861257	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs566139279	chr21:44861269-44861270	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs539974858	chr21:44861312-44861313	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs543263301	chr21:44861341-44861342	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs558077286	chr21:44861456-44861457	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs576976771	chr21:44861490-44861491	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs372078498	chr21:44861493-44861494	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs73906557	chr21:44861509-44861510	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs375191174	chr21:44861521-44861522	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs556174081	chr21:44861548-44861549	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs192632939	chr21:44861578-44861579	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs183757315	chr21:44861579-44861580	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs534544214	chr21:44861592-44861593	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs150585871	chr21:44861606-44861607	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs561189643	chr21:44861621-44861622	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs572256548	chr21:44861646-44861647	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs545945123	chr21:44861699-44861700	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs563957400	chr21:44861703-44861704	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs531669110	chr21:44861798-44861799	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs557074760	chr21:44861801-44861802	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs200203860	chr21:44861825-44861826	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs201320159	chr21:44861826-44861827	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 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:486 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44848000-44861400	Weak transcription	Colonic Mucosa	Colon
2	chr21:44848200-44862800	Weak transcription	Right Atrium	heart
3	chr21:44851400-44860800	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr21:44852000-44862600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr21:44855400-44863000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr21:44856200-44861400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr21:44856400-44862600	Weak transcription	Spleen	Spleen
8	chr21:44856800-44861400	Weak transcription	Gastric	stomach
9	chr21:44856800-44873200	Enhancers	Placenta	Placenta
10	chr21:44857400-44866000	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr21:44858800-44863400	Enhancers	Fetal Intestine Large	intestine
12	chr21:44858800-44867800	Enhancers	Fetal Intestine Small	intestine
13	chr21:44859000-44860800	Enhancers	Duodenum Mucosa	Duodenum
14	chr21:44859000-44864000	Enhancers	Stomach Mucosa	stomach
15	chr21:44859200-44863200	Enhancers	Pancreas	Pancrea
16	chr21:44859200-44863800	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr21:44859400-44860600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr21:44859400-44862200	Enhancers	Liver	Liver
19	chr21:44859400-44862800	Weak transcription	HSMM	muscle
20	chr21:44859400-44883600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr21:44859600-44862000	Weak transcription	Right Ventricle	heart
22	chr21:44859600-44862200	Weak transcription	Fetal Heart	heart
23	chr21:44859800-44860600	Weak transcription	Fetal Lung	lung
24	chr21:44859800-44860600	Enhancers	Placenta Amnion	Placenta Amnion
25	chr21:44859800-44861600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr21:44859800-44862200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr21:44859800-44862800	Weak transcription	HSMMtube	muscle
28	chr21:44859800-44864800	Enhancers	HMEC	breast
29	chr21:44860000-44860800	Flanking Active TSS	Hela-S3	cervix
30	chr21:44860000-44861200	Enhancers	A549	lung
31	chr21:44860000-44864000	Enhancers	Lung	lung
32	chr21:44860200-44860800	Flanking Active TSS	HepG2	liver
33	chr21:44860200-44861200	Enhancers	GM12878-XiMat	blood
34	chr21:44860200-44861800	Enhancers	NHEK	skin
35	chr21:44860400-44861400	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr21:44860600-44861000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr21:44860600-44861400	Enhancers	Fetal Lung	lung
38	chr21:44860600-44861600	Enhancers	Muscle Satellite Cultured Cells	--
39	chr21:44860600-44865200	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr21:44860800-44861000	Enhancers	Hela-S3	cervix
41	chr21:44860800-44861200	Weak transcription	Duodenum Mucosa	Duodenum
42	chr21:44860800-44861200	Enhancers	HepG2	liver
43	chr21:44860800-44861600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr21:44860800-44863800	Enhancers	Rectal Mucosa Donor 29	rectum
45	chr21:44861000-44861600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr21:44861000-44861800	Enhancers	Fetal Brain Female	brain
47	chr21:44861000-44862200	Flanking Active TSS	Hela-S3	cervix
48	chr21:44861200-44861400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr21:44861200-44861400	Flanking Active TSS	HepG2	liver
50	chr21:44861200-44862000	Flanking Active TSS	A549	lung

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