Variant report

Variant	nsv947519
Chromosome Location	chr1:225998770-226034631
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1358)
CpG islands
(count:1037)
Chromatin interactive
region (count:76)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1358 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:226012704-226013019	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:226001115-226001623	HepG2	liver:	n/a	n/a
3	ARID3A	chr1:226033582-226033809	HepG2	liver:	n/a	n/a
4	ATF2	chr1:226033441-226033940	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF3	chr1:226001049-226001695	A549	lung:	n/a	n/a
6	BACH1	chr1:226001346-226001698	K562	blood:	n/a	n/a
7	BACH1	chr1:225999370-225999674	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr1:226005337-226005991	H1-hESC	embryonic stem cell:	n/a	chr1:226005545-226005559
9	BACH1	chr1:226005394-226005818	K562	blood:	n/a	chr1:226005545-226005559
10	BACH1	chr1:226033629-226033650	H1-hESC	embryonic stem cell:	n/a	n/a
11	BCL3	chr1:226033089-226033715	A549	lung:	n/a	n/a
12	BCL3	chr1:226000614-226001755	A549	lung:	n/a	n/a
13	BCL3	chr1:226033373-226033982	A549	lung:	n/a	n/a
14	BCL3	chr1:226000906-226001806	A549	lung:	n/a	n/a
15	BHLHE40	chr1:226033488-226033821	K562	blood:	n/a	n/a
16	BHLHE40	chr1:226001251-226001564	K562	blood:	n/a	n/a
17	BHLHE40	chr1:226001082-226001554	HepG2	liver:	n/a	n/a
18	BHLHE40	chr1:226005490-226005543	K562	blood:	n/a	n/a
19	BRCA1	chr1:226033564-226033803	H1-hESC	embryonic stem cell:	n/a	n/a
20	BRCA1	chr1:226004798-226004816	H1-hESC	embryonic stem cell:	n/a	n/a
21	BRCA1	chr1:226033520-226033817	HepG2	liver:	n/a	n/a
22	BRCA1	chr1:226001058-226001177	HepG2	liver:	n/a	n/a
23	BRCA1	chr1:226010601-226010709	Hela-S3	cervix:	n/a	n/a
24	CBX3	chr1:226033446-226033847	K562	blood:	n/a	n/a
25	CBX3	chr1:226001072-226001605	K562	blood:	n/a	n/a
26	CCNT2	chr1:226030380-226030585	K562	blood:	n/a	n/a
27	CEBPB	chr1:226001070-226001616	K562	blood:	n/a	n/a
28	CEBPB	chr1:226033576-226033722	H1-hESC	embryonic stem cell:	n/a	n/a
29	CEBPB	chr1:226001046-226001544	K562	blood:	n/a	n/a
30	CEBPB	chr1:226012807-226013191	HepG2	liver:	n/a	n/a
31	CEBPB	chr1:226001104-226001405	K562	blood:	n/a	n/a
32	CEBPB	chr1:226019895-226019941	HepG2	liver:	n/a	n/a
33	CEBPB	chr1:226000849-226001803	A549	lung:	n/a	n/a
34	CEBPB	chr1:226001060-226001603	IMR90	lung:	n/a	n/a
35	CEBPB	chr1:226000992-226001524	MCF-7	breast:	n/a	n/a
36	CEBPB	chr1:226001017-226001550	ECC-1	luminal epithelium:	n/a	n/a
37	CEBPB	chr1:226005305-226005687	Hela-S3	cervix:	n/a	n/a
38	CEBPB	chr1:226022962-226023246	K562	blood:	n/a	n/a
39	CEBPB	chr1:226000977-226001537	HepG2	liver:	n/a	n/a
40	CEBPB	chr1:226014167-226014477	HepG2	liver:	n/a	n/a
41	CEBPB	chr1:226014252-226014411	K562	blood:	n/a	n/a
42	CEBPB	chr1:226012828-226013078	HepG2	liver:	n/a	n/a
43	CEBPB	chr1:226001152-226001381	H1-hESC	embryonic stem cell:	n/a	n/a
44	CEBPB	chr1:226000767-226001621	A549	lung:	n/a	n/a
45	CEBPB	chr1:226001039-226001557	Hela-S3	cervix:	n/a	n/a
46	CEBPB	chr1:226014274-226014389	A549	lung:	n/a	n/a
47	CEBPB	chr1:226014142-226014507	HepG2	liver:	n/a	n/a
48	CEBPB	chr1:226000963-226001556	MCF-7	breast:	n/a	n/a
49	CEBPB	chr1:226001022-226001640	HepG2	liver:	n/a	n/a
50	CEBPB	chr1:226001013-226001595	A549	lung:	n/a	n/a

(count:1037 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:226033550-226033600	HCF	heart:	n/a
2	chr1:226001675-226001725	A549	lung:	n/a
3	chr1:226012913-226012963	HL-60	blood:	n/a
4	chr1:225998870-225998920	LNCaP	prostate:	n/a
5	chr1:226001675-226001725	HNPCEpiC	eye:	n/a
6	chr1:225998870-225998920	AG09319	gingival:	n/a
7	chr1:226016389-226016439	PrEC	prostate:	n/a
8	chr1:226001675-226001725	GM19239	blood:	n/a
9	chr1:226023590-226023640	PrEC	prostate:	n/a
10	chr1:226004826-226004876	GM12891	blood:	n/a
11	chr1:226033016-226033066	Caco-2	colon:	n/a
12	chr1:226033016-226033066	HCF	heart:	n/a
13	chr1:225998870-225998920	AG09309	skin:	n/a
14	chr1:226012954-226013004	LNCaP	prostate:	n/a
15	chr1:226016389-226016439	NT2-D1	testis:	n/a
16	chr1:226004826-226004876	K562	blood:	n/a
17	chr1:226013212-226013262	SKMC	muscle:	n/a
18	chr1:226013212-226013262	NH-A	brain:	n/a
19	chr1:225998730-225998780	AG04450	lung:	fetal
20	chr1:225998870-225998920	HAEpiC	amniotic membrane:	n/a
21	chr1:226012954-226013004	HMEC	breast:	n/a
22	chr1:226016389-226016439	HEK293	kidney:	embryo
23	chr1:226016389-226016439	BJ	skin:	n/a
24	chr1:226023590-226023640	NHDF-neo	bronchial:	n/a
25	chr1:226012347-226012397	T-47D	breast:	n/a
26	chr1:226001675-226001725	SK-N-SH	brain:	n/a
27	chr1:226012347-226012397	NT2-D1	testis:	n/a
28	chr1:226012913-226012963	H1-hESC	embryonic stem cell:	embryo
29	chr1:226033016-226033066	SK-N-SH_RA	brain:	n/a
30	chr1:226012347-226012397	SK-N-SH_RA	brain:	n/a
31	chr1:225998730-225998780	HMEC	breast:	n/a
32	chr1:226012347-226012397	MCF10A-Er-Src	breast:	n/a
33	chr1:225998730-225998780	Caco-2	colon:	n/a
34	chr1:226012954-226013004	ovcar-3	ovarian:	n/a
35	chr1:226016389-226016439	AG04449	skin:	fetal
36	chr1:226011953-226012003	HMEC	breast:	n/a
37	chr1:226001675-226001725	HPAEpiC	pulmonary alveolar:	n/a
38	chr1:226013010-226013060	GM12878	blood:	n/a
39	chr1:225998870-225998920	HCPEpiC	choroid plexus:	n/a
40	chr1:226023590-226023640	H1-hESC	embryonic stem cell:	embryo
41	chr1:225998870-225998920	HRE	kidney:	n/a
42	chr1:226033016-226033066	GM12891	blood:	n/a
43	chr1:226013212-226013262	Jurkat	blood:	n/a
44	chr1:226012347-226012397	HCPEpiC	choroid plexus:	n/a
45	chr1:226033217-226033267	HRPEpiC	eye:	n/a
46	chr1:226013212-226013262	HEEpiC	esophagus:	n/a
47	chr1:226033016-226033066	NH-A	brain:	n/a
48	chr1:226013212-226013262	HIPEpiC	eye:	n/a
49	chr1:225999183-225999233	HepG2	liver:	n/a
50	chr1:226012347-226012397	PFSK-1	brain:	n/a

(count:76 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:225964451..225968253-chr1:226004384..226007160,4	K562	blood:
2	chr1:226025653..226027789-chr1:226114675..226116510,2	K562	blood:
3	chr1:226033213..226034060-chr1:226163734..226164318,2	K562	blood:
4	chr1:225992085..225994324-chr1:226013953..226015752,2	K562	blood:
5	chr1:226009795..226012080-chr1:226012833..226016826,4	MCF-7	breast:
6	chr1:225969259..225971858-chr1:225998628..226000469,2	K562	blood:
7	chr1:226021203..226023917-chr1:226026955..226030143,3	K562	blood:
8	chr1:226021203..226023917-chr1:226026955..226030143,3	K562	blood:
9	chr1:225963873..225967033-chr1:226031330..226035962,4	MCF-7	breast:
10	chr1:225963904..225970275-chr1:225994893..226001084,15	K562	blood:
11	chr1:225839316..225841552-chr1:226008326..226009891,2	MCF-7	breast:
12	chr1:226015474..226017647-chr1:226024996..226027298,2	MCF-7	breast:
13	chr1:225997801..225999336-chr5:38846074..38848337,2	MCF-7	breast:
14	chr1:225840822..225842484-chr1:226000425..226002809,2	MCF-7	breast:
15	chr1:225998808..226002827-chr1:226008223..226011228,3	MCF-7	breast:
16	chr1:226004285..226007407-chr1:226008778..226014958,9	K562	blood:
17	chr1:226022223..226024431-chr1:226025111..226027659,2	MCF-7	breast:
18	chr1:226033230..226036408-chr1:226061975..226066194,3	MCF-7	breast:
19	chr1:225965293..225968073-chr1:226004323..226008130,4	MCF-7	breast:
20	chr1:225962294..225967531-chr1:225994011..226002080,11	K562	blood:
21	chr1:225964435..225966967-chr1:226028850..226030577,3	MCF-7	breast:
22	chr1:225975459..225978007-chr1:225998232..226000787,2	K562	blood:
23	chr1:225964834..225965851-chr1:226033204..226034086,4	K562	blood:
24	chr1:225965233..225968253-chr1:226004557..226007160,3	K562	blood:
25	chr1:225991700..225994994-chr1:226006068..226008999,3	K562	blood:
26	chr1:225962862..225967352-chr1:225996084..226002774,11	MCF-7	breast:
27	chr1:226007556..226009696-chr1:226010753..226013148,2	K562	blood:
28	chr1:225963673..225968224-chr1:226032543..226034938,4	MCF-7	breast:
29	chr1:226004168..226006685-chr1:226076298..226078625,2	K562	blood:
30	chr1:226032510..226034899-chr1:226069383..226071490,2	MCF-7	breast:
31	chr1:225963814..225970754-chr1:225996230..226002908,14	MCF-7	breast:
32	chr1:226030085..226032295-chr1:226067898..226070113,2	MCF-7	breast:
33	chr1:225662312..225663277-chr1:226032721..226034082,11	MCF-7	breast:
34	chr1:225662402..225663343-chr1:226032820..226034152,12	MCF-7	breast:
35	chr1:226025810..226027984-chr1:226031798..226033532,2	MCF-7	breast:
36	chr1:226032252..226033753-chr1:226185534..226188258,2	K562	blood:
37	chr1:225998339..226001333-chr1:226013491..226015022,2	K562	blood:
38	chr1:225662368..225663228-chr1:226027050..226027785,2	K562	blood:
39	chr1:225996263..225999191-chr1:226003429..226005818,2	MCF-7	breast:
40	chr1:226028800..226031173-chr1:226165446..226167469,2	MCF-7	breast:
41	chr1:225993855..225996522-chr1:225998184..225999868,2	MCF-7	breast:
42	chr1:225998808..226002827-chr1:226008223..226011228,3	MCF-7	breast:
43	chr1:225839806..225841875-chr1:226019865..226022618,2	MCF-7	breast:
44	chr1:226005737..226007634-chr1:226011731..226014314,2	MCF-7	breast:
45	chr1:225840519..225842068-chr1:226029667..226032109,2	MCF-7	breast:
46	chr1:226032890..226033728-chr14:71284226..71284855,2	MCF-7	breast:
47	chr1:225998663..226000298-chr1:226028489..226031143,2	MCF-7	breast:
48	chr1:225821970..225824548-chr1:226027169..226028727,2	K562	blood:
49	chr1:226004660..226006754-chr1:226008430..226011315,2	K562	blood:
50	chr1:226004025..226006566-chr1:226007208..226010297,4	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TMEM63A-1	chr1:226034181-226034223	ENSG00000242861.1
2	lnc-TMEM63A-1	chr1:226028584-226028888	ENSG00000242861.1

No data

Variant related genes	Relation type
EPHX1	TF binding region
ENSG00000242861	TF binding region
EPHX1	CpG island
ENSG00000242861	CpG island
ENSG00000213032	chromatin interactions
ENSG00000143819	chromatin interactions
ENSG00000143751	chromatin interactions
ENSG00000154380	chromatin interactions
ENSG00000243709	chromatin interactions
ENSG00000105281	chromatin interactions
ENSG00000143742	chromatin interactions
ENSG00000196187	chromatin interactions
ENSG00000145623	chromatin interactions

Extended variants
information (count: 1632 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:1632 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs61837995	chr1:225998776-225998777	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs548117800	chr1:225998806-225998807	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs569510563	chr1:225998837-225998838	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs375681177	chr1:225998841-225998842	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs536873362	chr1:225998868-225998869	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs549991327	chr1:225998958-225998959	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs368837450	chr1:225999129-225999130	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs571679332	chr1:225999184-225999185	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs372315872	chr1:225999192-225999193	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs374712952	chr1:225999395-225999396	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs368990644	chr1:225999398-225999399	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs372753717	chr1:225999453-225999454	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs376160963	chr1:225999462-225999463	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs190274949	chr1:225999501-225999502	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs554094880	chr1:225999538-225999539	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs369406995	chr1:225999561-225999562	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs536944551	chr1:225999574-225999575	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs555330980	chr1:225999577-225999578	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs576696905	chr1:225999591-225999592	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs543963750	chr1:225999601-225999602	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs78489655	chr1:225999618-225999619	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs576822031	chr1:225999632-225999633	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs540776551	chr1:225999660-225999661	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs77445469	chr1:225999710-225999711	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs529687551	chr1:225999714-225999715	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs182571234	chr1:225999734-225999735	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs548403674	chr1:225999737-225999738	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs145977976	chr1:225999753-225999754	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs74150518	chr1:225999800-225999801	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs552303437	chr1:225999805-225999806	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs147894933	chr1:225999844-225999845	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs141671863	chr1:225999858-225999859	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs547623417	chr1:225999904-225999905	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs6426089	chr1:225999979-225999980	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs536680477	chr1:226000025-226000026	Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs550564925	chr1:226000026-226000027	Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs187889446	chr1:226000040-226000041	Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs537345479	chr1:226000115-226000116	Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs6662793	chr1:226000146-226000147	Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs115602270	chr1:226000150-226000151	Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs568870939	chr1:226000152-226000153	Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs199506046	chr1:226000162-226000163	Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs374517343	chr1:226000185-226000186	Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs574077837	chr1:226000204-226000205	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs541390250	chr1:226000214-226000215	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs74815607	chr1:226000260-226000261	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs530793586	chr1:226000269-226000270	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs12066647	chr1:226000281-226000282	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs12096942	chr1:226000303-226000304	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs564304046	chr1:226000312-226000313	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD
Pancreatic cancer	17952125	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:1902 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225997200-225998800	Active TSS	Osteobl	bone
2	chr1:225997200-225999000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr1:225997200-225999000	Active TSS	Brain Hippocampus Middle	brain
4	chr1:225997200-225999200	Active TSS	Brain Angular Gyrus	brain
5	chr1:225997200-225999200	Active TSS	Duodenum Smooth Muscle	Duodenum
6	chr1:225997200-225999200	Active TSS	Rectal Smooth Muscle	rectum
7	chr1:225997200-225999600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:225997400-225998800	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr1:225997400-225998800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr1:225997400-225998800	Active TSS	Brain Anterior Caudate	brain
11	chr1:225997400-225998800	Active TSS	Colonic Mucosa	Colon
12	chr1:225997400-225998800	Active TSS	Psoas Muscle	Psoas
13	chr1:225997400-225998800	Active TSS	A549	lung
14	chr1:225997400-225999000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:225997400-225999000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr1:225997400-225999000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:225997400-225999000	Active TSS	Aorta	Aorta
18	chr1:225997400-225999000	Active TSS	Esophagus	oesophagus
19	chr1:225997400-225999000	Active TSS	Right Atrium	heart
20	chr1:225997400-225999000	Active TSS	Right Ventricle	heart
21	chr1:225997400-225999000	Active TSS	NHDF-Ad	bronchial
22	chr1:225997400-225999200	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr1:225997400-225999200	Active TSS	Fetal Brain Female	brain
24	chr1:225997400-225999200	Enhancers	Fetal Heart	heart
25	chr1:225997400-225999200	Active TSS	Fetal Kidney	kidney
26	chr1:225997400-225999400	Active TSS	H9 Cell Line	embryonic stem cell
27	chr1:225997400-225999800	Active TSS	Ovary	ovary
28	chr1:225997400-226000000	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr1:225997600-225998800	Flanking Active TSS	Primary hematopoietic stem cells	blood
30	chr1:225997600-225998800	Active TSS	Colon Smooth Muscle	Colon
31	chr1:225997600-225998800	Active TSS	Fetal Lung	lung
32	chr1:225997600-225998800	Active TSS	Left Ventricle	heart
33	chr1:225997600-225998800	Active TSS	Sigmoid Colon	Sigmoid Colon
34	chr1:225997600-225998800	Active TSS	Small Intestine	intestine
35	chr1:225997600-225999000	Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr1:225997600-225999000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr1:225997600-225999000	Active TSS	Pancreas	Pancrea
38	chr1:225997600-225999000	Active TSS	HepG2	liver
39	chr1:225997800-225998800	Active TSS	Brain Germinal Matrix	brain
40	chr1:225997800-225998800	Active TSS	Gastric	stomach
41	chr1:225997800-225999000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr1:225997800-225999600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr1:225998000-225998800	Flanking Active TSS	Primary B cells from cord blood	blood
44	chr1:225998000-225999600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr1:225998200-225998800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
46	chr1:225998200-225998800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr1:225998200-225999000	Flanking Active TSS	Placenta	Placenta
48	chr1:225998400-225998800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
49	chr1:225998400-225998800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
50	chr1:225998400-225998800	Enhancers	Primary T helper cells PMA-I stimulated	--

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