Variant report

Variant	nsv914020
Chromosome Location	chr21:46742130-46788299
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1794)
CpG islands
(count:859)
Chromatin interactive
region (count:152)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1794 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr21:46785650-46786008	HepG2	liver:	n/a	n/a
2	ARID3A	chr21:46783885-46784282	K562	blood:	n/a	n/a
3	ARID3A	chr21:46774893-46775210	K562	blood:	n/a	n/a
4	ARID3A	chr21:46776579-46777069	HepG2	liver:	n/a	n/a
5	ARID3A	chr21:46780061-46780529	K562	blood:	n/a	n/a
6	ARID3A	chr21:46783915-46784326	HepG2	liver:	n/a	n/a
7	ARID3A	chr21:46761864-46762129	HepG2	liver:	n/a	n/a
8	ARID3A	chr21:46749997-46750307	HepG2	liver:	n/a	n/a
9	ATF1	chr21:46770199-46770839	K562	blood:	n/a	n/a
10	ATF2	chr21:46785668-46786074	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF2	chr21:46785716-46786063	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF3	chr21:46786865-46787077	K562	blood:	n/a	n/a
13	ATF3	chr21:46783847-46784335	A549	lung:	n/a	n/a
14	ATF3	chr21:46783763-46784370	A549	lung:	n/a	n/a
15	ATF3	chr21:46786673-46786999	A549	lung:	n/a	n/a
16	ATF3	chr21:46749813-46750453	A549	lung:	n/a	n/a
17	ATF3	chr21:46783894-46784312	K562	blood:	n/a	n/a
18	ATF3	chr21:46783852-46784400	K562	blood:	n/a	n/a
19	ATF3	chr21:46749646-46750399	A549	lung:	n/a	n/a
20	BACH1	chr21:46783853-46784291	H1-hESC	embryonic stem cell:	n/a	chr21:46784189-46784203
21	BACH1	chr21:46766930-46767217	H1-hESC	embryonic stem cell:	n/a	n/a
22	BACH1	chr21:46752374-46752511	H1-hESC	embryonic stem cell:	n/a	n/a
23	BACH1	chr21:46780220-46780449	K562	blood:	n/a	n/a
24	BACH1	chr21:46767460-46767593	H1-hESC	embryonic stem cell:	n/a	n/a
25	BACH1	chr21:46783793-46784400	K562	blood:	n/a	chr21:46784189-46784203
26	BACH1	chr21:46785602-46786027	H1-hESC	embryonic stem cell:	n/a	n/a
27	BACH1	chr21:46776316-46776660	K562	blood:	n/a	n/a
28	BATF	chr21:46745938-46746207	GM12878	blood:	n/a	chr21:46746060-46746071 chr21:46746061-46746071
29	BATF	chr21:46783813-46784229	GM12878	blood:	n/a	chr21:46784062-46784073
30	BATF	chr21:46783766-46784349	GM12878	blood:	n/a	chr21:46784062-46784073
31	BCL3	chr21:46749618-46750479	A549	lung:	n/a	n/a
32	BCL3	chr21:46743288-46743730	A549	lung:	n/a	chr21:46743633-46743642
33	BCL3	chr21:46742617-46743174	A549	lung:	n/a	n/a
34	BCL3	chr21:46783810-46784408	A549	lung:	n/a	n/a
35	BCL3	chr21:46749699-46750471	A549	lung:	n/a	n/a
36	BCL3	chr21:46753657-46754070	A549	lung:	n/a	chr21:46753976-46753989
37	BCL3	chr21:46783807-46784411	A549	lung:	n/a	n/a
38	BHLHE40	chr21:46776435-46777034	HepG2	liver:	n/a	n/a
39	BHLHE40	chr21:46781635-46781851	K562	blood:	n/a	n/a
40	BHLHE40	chr21:46749665-46750386	HepG2	liver:	n/a	n/a
41	BHLHE40	chr21:46779543-46779555	K562	blood:	n/a	n/a
42	BHLHE40	chr21:46769437-46770021	K562	blood:	n/a	n/a
43	BHLHE40	chr21:46783905-46784153	GM12878	blood:	n/a	n/a
44	BHLHE40	chr21:46780087-46780507	K562	blood:	n/a	n/a
45	BHLHE40	chr21:46776319-46776777	K562	blood:	n/a	n/a
46	BHLHE40	chr21:46749609-46750275	A549	lung:	n/a	n/a
47	BHLHE40	chr21:46785676-46786044	HepG2	liver:	n/a	n/a
48	BHLHE40	chr21:46786875-46787311	HepG2	liver:	n/a	n/a
49	BHLHE40	chr21:46783835-46784347	K562	blood:	n/a	n/a
50	BHLHE40	chr21:46785382-46786091	HepG2	liver:	n/a	n/a

(count:859 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:46768057-46768107	IMR90	lung:	fetal
2	chr21:46768057-46768107	HEK293	kidney:	embryo
3	chr21:46768057-46768107	NT2-D1	testis:	n/a
4	chr21:46784677-46784727	HCM	heart:	n/a
5	chr21:46785338-46785388	HMEC	breast:	n/a
6	chr21:46768057-46768107	IMR90	lung:	fetal
7	chr21:46768057-46768107	HEK293	kidney:	embryo
8	chr21:46768057-46768107	NT2-D1	testis:	n/a
9	chr21:46784677-46784727	HCM	heart:	n/a
10	chr21:46785338-46785388	HMEC	breast:	n/a
11	chr21:46763239-46763289	Hepatocyte	liver:	n/a
12	chr21:46768057-46768107	HepG2	liver:	n/a
13	chr21:46785181-46785231	PFSK-1	brain:	n/a
14	chr21:46768124-46768174	HUVEC	blood vessel:	n/a
15	chr21:46782485-46782535	GM12878	blood:	n/a
16	chr21:46785338-46785388	HCT-116	colon:	n/a
17	chr21:46763239-46763289	LNCaP	prostate:	n/a
18	chr21:46784677-46784727	Hepatocyte	liver:	n/a
19	chr21:46766039-46766089	HCT-116	colon:	n/a
20	chr21:46787125-46787175	Hepatocyte	liver:	n/a
21	chr21:46782485-46782535	Hela-S3	cervix:	n/a
22	chr21:46766039-46766089	HRE	kidney:	n/a
23	chr21:46784677-46784727	HNPCEpiC	eye:	n/a
24	chr21:46765150-46765200	AG09319	gingival:	n/a
25	chr21:46768124-46768174	A549	lung:	n/a
26	chr21:46785181-46785231	PrEC	prostate:	n/a
27	chr21:46768057-46768107	HNPCEpiC	eye:	n/a
28	chr21:46765797-46765847	AG09319	gingival:	n/a
29	chr21:46768057-46768107	AG04450	lung:	fetal
30	chr21:46782485-46782535	NB4	blood:	n/a
31	chr21:46768124-46768174	GM12891	blood:	n/a
32	chr21:46782485-46782535	BE2_C	brain:	n/a
33	chr21:46785181-46785231	SKMC	muscle:	n/a
34	chr21:46785181-46785231	HepG2	liver:	n/a
35	chr21:46784677-46784727	PFSK-1	brain:	n/a
36	chr21:46766039-46766089	ProgFib	skin:	n/a
37	chr21:46784677-46784727	ovcar-3	ovarian:	n/a
38	chr21:46785338-46785388	K562	blood:	n/a
39	chr21:46787125-46787175	HMEC	breast:	n/a
40	chr21:46768057-46768107	SK-N-SH_RA	brain:	n/a
41	chr21:46786040-46786090	NHDF-neo	bronchial:	n/a
42	chr21:46786040-46786090	PFSK-1	brain:	n/a
43	chr21:46784677-46784727	AG09309	skin:	n/a
44	chr21:46782485-46782535	IMR90	lung:	fetal
45	chr21:46766039-46766089	HMEC	breast:	n/a
46	chr21:46785338-46785388	HIPEpiC	eye:	n/a
47	chr21:46785181-46785231	AG04449	skin:	fetal
48	chr21:46765150-46765200	PFSK-1	brain:	n/a
49	chr21:46765797-46765847	AG04449	skin:	fetal
50	chr21:46782485-46782535	ECC-1	luminal epithelium:	n/a

(count:152 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr21:46783643..46786140-chr21:46787333..46790982,4	K562	blood:
2	chr21:46784229..46786140-chr21:46789029..46792011,2	K562	blood:
3	chr16:3052903..3054777-chr21:46739387..46742203,2	MCF-7	breast:
4	chr21:46729928..46732032-chr21:46742592..46744160,2	MCF-7	breast:
5	chr21:46770665..46773273-chr21:46776700..46781234,4	K562	blood:
6	chr21:46782569..46785159-chr21:46825170..46827160,3	K562	blood:
7	chr21:46729693..46731540-chr21:46758328..46761233,2	K562	blood:
8	chr21:46746835..46750946-chr21:46781455..46788105,6	MCF-7	breast:
9	chr21:46748249..46751518-chr21:46779434..46785812,9	MCF-7	breast:
10	chr21:46343730..46345463-chr21:46747714..46750243,2	MCF-7	breast:
11	chr21:46727532..46729794-chr21:46745790..46748227,2	MCF-7	breast:
12	chr21:46724670..46727750-chr21:46746189..46749033,3	K562	blood:
13	chr21:46737653..46759617-chr21:46790778..46832239,260	MCF-7	breast:
14	chr21:46715805..46717314-chr21:46768759..46770492,2	MCF-7	breast:
15	chr21:46748103..46750695-chr21:46872042..46877016,4	MCF-7	breast:
16	chr21:46748164..46750024-chr21:46812077..46813797,2	MCF-7	breast:
17	chr21:46711012..46713280-chr21:46774419..46777119,2	K562	blood:
18	chr21:46772479..46773324-chr21:46806372..46806978,2	MCF-7	breast:
19	chr21:46749747..46750781-chr21:46806359..46807209,5	MCF-7	breast:
20	chr21:46739884..46740765-chr21:46749840..46750823,6	MCF-7	breast:
21	chr21:46744463..46750157-chr21:46838787..46845389,11	MCF-7	breast:
22	chr21:46774602..46775235-chr8:136536240..136536740,2	MCF-7	breast:
23	chr21:46759527..46761692-chr21:46764874..46766579,2	K562	blood:
24	chr21:46745556..46747067-chr21:46751650..46754009,2	MCF-7	breast:
25	chr21:46744513..46752092-chr21:46770815..46780844,15	MCF-7	breast:
26	chr21:46744938..46747044-chr21:46830603..46832501,2	K562	blood:
27	chr21:46751136..46753339-chr21:46755862..46758616,3	K562	blood:
28	chr21:46743301..46745333-chr21:46800514..46802613,2	MCF-7	breast:
29	chr21:46745556..46747067-chr21:46751650..46754009,2	MCF-7	breast:
30	chr21:46493593..46495529-chr21:46751004..46753847,2	K562	blood:
31	chr17:56735019..56737959-chr21:46746909..46749779,2	MCF-7	breast:
32	chr21:46778713..46781646-chr21:46784300..46787104,2	K562	blood:
33	chr21:46711520..46714071-chr21:46745012..46749565,5	MCF-7	breast:
34	chr21:46745857..46751691-chr21:46790037..46794864,6	MCF-7	breast:
35	chr21:46739975..46742517-chr21:46825868..46828484,2	MCF-7	breast:
36	chr21:46776624..46778577-chr21:46780085..46782852,2	K562	blood:
37	chr21:46708303..46710406-chr21:46781608..46784032,2	MCF-7	breast:
38	chr21:46766033..46768501-chr21:46778494..46780631,3	K562	blood:
39	chr21:46783218..46786077-chr21:46800000..46803414,3	MCF-7	breast:
40	chr21:46783643..46786140-chr21:46787333..46790982,4	K562	blood:
41	chr21:46757130..46759236-chr21:46775572..46778258,3	MCF-7	breast:
42	chr21:46731341..46732996-chr21:46743188..46745694,2	K562	blood:
43	chr21:46748137..46749719-chr21:46803212..46805026,2	MCF-7	breast:
44	chr21:46748175..46751786-chr21:46846274..46851990,8	MCF-7	breast:
45	chr21:46711496..46712142-chr21:46775912..46776862,2	K562	blood:
46	chr21:46750744..46754942-chr21:46760843..46763104,3	MCF-7	breast:
47	chr21:46778968..46780820-chr21:46781164..46783505,2	K562	blood:
48	chr21:46738235..46740856-chr21:46753130..46755724,3	K562	blood:
49	chr21:46292769..46294741-chr21:46751911..46753891,2	MCF-7	breast:
50	chr21:46774866..46777783-chr21:46778049..46779705,2	K562	blood:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-COL18A1-3	chr21:46758311-46758580	XLOC_013982
2	lnc-COL18A1-2	chr21:46773280-46773433	XLOC_013983
3	lnc-POFUT2-2	chr21:46761740-46761905	XLOC_014125
4	lnc-COL18A1-2	chr21:46767517-46767603	XLOC_013983
5	lnc-POFUT2-2	chr21:46758505-46758793	XLOC_014125
6	lnc-COL18A1-3	chr21:46756622-46756730	XLOC_013982

No data

Variant related genes	Relation type
LINC00316	TF binding region
ENSG00000229382	TF binding region
LINC00316	CpG island
ENSG00000229382	CpG island
ENSG00000183535	chromatin interactions
ENSG00000228355	chromatin interactions
ENSG00000224574	chromatin interactions
ENSG00000229382	chromatin interactions
ENSG00000127663	chromatin interactions
ENSG00000184274	chromatin interactions
ENSG00000197381	chromatin interactions
ENSG00000157152	chromatin interactions
ENSG00000183570	chromatin interactions
ENSG00000235374	chromatin interactions
ENSG00000173638	chromatin interactions
ENSG00000183255	chromatin interactions
ENSG00000182871	chromatin interactions
ENSG00000223768	chromatin interactions
ENSG00000237664	chromatin interactions
ENSG00000215447	chromatin interactions
ENSG00000228930	chromatin interactions
ENSG00000186866	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000160255	chromatin interactions
SH3RF1	miRNA target sites
HIST2H2BE	miRNA target sites

Extended variants
information (count: 2479 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:2479 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13433469	chr21:46742130-46742131	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs534199752	chr21:46742134-46742135	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs567616999	chr21:46742137-46742138	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs62214419	chr21:46742155-46742156	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs570075524	chr21:46742211-46742212	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs554945756	chr21:46742212-46742213	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs537452406	chr21:46742231-46742232	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs555830090	chr21:46742261-46742262	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs34017616	chr21:46742271-46742272	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs113454679	chr21:46742282-46742283	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs13051375	chr21:46742321-46742322	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs553656814	chr21:46742326-46742327	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs572219130	chr21:46742356-46742357	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs530367310	chr21:46742371-46742372	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs375587479	chr21:46742449-46742450	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs564373934	chr21:46742482-46742483	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs111811329	chr21:46742483-46742484	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs544660889	chr21:46742486-46742487	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs562957342	chr21:46742508-46742509	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs530166760	chr21:46742540-46742541	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs548686020	chr21:46742554-46742555	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs549949748	chr21:46742577-46742578	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs527897501	chr21:46742578-46742579	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs149234491	chr21:46742588-46742589	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs570848473	chr21:46742594-46742595	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs116580066	chr21:46742622-46742623	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs549393467	chr21:46742649-46742650	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs185635901	chr21:46742651-46742652	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs535165494	chr21:46742672-46742673	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs569946802	chr21:46742673-46742674	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs143499745	chr21:46742674-46742675	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs539664446	chr21:46742688-46742689	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs190439739	chr21:46742689-46742690	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs11911781	chr21:46742690-46742691	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs116441369	chr21:46742708-46742709	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs562845343	chr21:46742734-46742735	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs574792302	chr21:46742743-46742744	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs541918218	chr21:46742759-46742760	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs73373053	chr21:46742769-46742770	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs566533911	chr21:46742815-46742816	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs564416778	chr21:46742816-46742817	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs546013878	chr21:46742819-46742820	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs544400348	chr21:46742867-46742868	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs539244543	chr21:46742874-46742875	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs550077921	chr21:46742877-46742878	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs567921113	chr21:46742915-46742916	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs528881925	chr21:46742927-46742928	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs547170231	chr21:46742928-46742929	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs565806685	chr21:46742977-46742978	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs539243323	chr21:46742979-46742980	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
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
Neuroblastoma	18923191	CNVD
Breast cancer	17899364	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	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
Prostate cancer	18632612	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
Breast cancer	17142309	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	17426248	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	17237825	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Lung cancer	21203850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:1365 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46736400-46744000	Enhancers	Lung	lung
2	chr21:46736800-46743200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr21:46737000-46745600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr21:46737000-46747200	Enhancers	Fetal Muscle Leg	muscle
5	chr21:46737400-46742400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
6	chr21:46737800-46743000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr21:46738000-46742400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr21:46738000-46742600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr21:46738200-46742800	Weak transcription	HMEC	breast
10	chr21:46738200-46745200	Enhancers	Adipose Nuclei	Adipose
11	chr21:46739200-46742600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr21:46739600-46742400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr21:46740000-46742200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr21:46740000-46742200	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr21:46740000-46742800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr21:46740000-46742800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr21:46740200-46743400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr21:46740400-46742200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr21:46740400-46742200	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr21:46740400-46742400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr21:46740400-46742800	Weak transcription	Fetal Intestine Large	intestine
22	chr21:46740400-46748400	Weak transcription	Fetal Intestine Small	intestine
23	chr21:46740600-46742200	Weak transcription	Fetal Lung	lung
24	chr21:46740600-46742600	Enhancers	A549	lung
25	chr21:46740600-46742800	Weak transcription	NHLF	lung
26	chr21:46740600-46743800	Weak transcription	Stomach Mucosa	stomach
27	chr21:46740600-46745000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
28	chr21:46740600-46747600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
29	chr21:46740800-46742200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr21:46740800-46742200	Weak transcription	Esophagus	oesophagus
31	chr21:46740800-46743200	Weak transcription	Rectal Smooth Muscle	rectum
32	chr21:46740800-46743600	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr21:46740800-46743800	Weak transcription	Left Ventricle	heart
34	chr21:46740800-46744000	Bivalent Enhancer	Fetal Stomach	stomach
35	chr21:46740800-46744200	Weak transcription	Colon Smooth Muscle	Colon
36	chr21:46741000-46742400	Weak transcription	NH-A	brain
37	chr21:46741000-46743000	Weak transcription	Right Atrium	heart
38	chr21:46741000-46743600	Enhancers	Hela-S3	cervix
39	chr21:46741000-46744200	Enhancers	HSMM	muscle
40	chr21:46741400-46742200	Weak transcription	Right Ventricle	heart
41	chr21:46741400-46743000	Weak transcription	HSMMtube	muscle
42	chr21:46741400-46743800	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr21:46741400-46744200	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr21:46741400-46746400	Bivalent Enhancer	Placenta	Placenta
45	chr21:46741600-46742200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr21:46741600-46743200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr21:46741600-46744000	Enhancers	Primary T cells from cord blood	blood
48	chr21:46741600-46744200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr21:46741600-46744200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr21:46741600-46744400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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