Variant report

Variant	nsv523531
Chromosome Location	chr1:246893948-246967899
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:821)
CpG islands
(count:2137)
Chromatin interactive
region (count:69)
LncRNA
region (count:35)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:821 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF3	chr1:246912282-246912460	K562	blood:	n/a	n/a
2	ATF3	chr1:246912268-246912583	K562	blood:	n/a	n/a
3	BACH1	chr1:246952177-246952496	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr1:246912302-246912502	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr1:246921472-246921497	K562	blood:	n/a	n/a
6	BCL3	chr1:246902154-246902459	GM12878	blood:	n/a	n/a
7	BCL3	chr1:246961509-246961834	GM12878	blood:	n/a	n/a
8	BCL3	chr1:246902160-246902465	GM12878	blood:	n/a	n/a
9	BCLAF1	chr1:246936225-246936868	GM12878	blood:	n/a	n/a
10	BHLHE40	chr1:246961064-246961178	K562	blood:	n/a	n/a
11	BHLHE40	chr1:246912250-246912316	K562	blood:	n/a	n/a
12	BHLHE40	chr1:246917346-246917545	K562	blood:	n/a	n/a
13	BHLHE40	chr1:246958086-246958377	K562	blood:	n/a	n/a
14	BHLHE40	chr1:246917232-246917573	GM12878	blood:	n/a	n/a
15	BRCA1	chr1:246917232-246917487	H1-hESC	embryonic stem cell:	n/a	n/a
16	BRCA1	chr1:246917239-246917482	Hela-S3	cervix:	n/a	n/a
17	BRCA1	chr1:246948780-246948917	GM12878	blood:	n/a	n/a
18	CBX3	chr1:246910697-246911103	K562	blood:	n/a	n/a
19	CBX3	chr1:246960849-246961178	K562	blood:	n/a	n/a
20	CBX3	chr1:246945245-246946092	K562	blood:	n/a	n/a
21	CBX3	chr1:246912019-246912599	K562	blood:	n/a	n/a
22	CEBPB	chr1:246894140-246894505	HepG2	liver:	n/a	chr1:246894312-246894323
23	CEBPB	chr1:246945440-246945711	IMR90	lung:	n/a	n/a
24	CEBPB	chr1:246894222-246894417	HepG2	liver:	n/a	chr1:246894312-246894323
25	CEBPB	chr1:246932550-246932995	IMR90	lung:	n/a	n/a
26	CEBPB	chr1:246932562-246932991	Hela-S3	cervix:	n/a	n/a
27	CEBPB	chr1:246894243-246894331	K562	blood:	n/a	chr1:246894312-246894323
28	CEBPB	chr1:246912216-246912750	MCF-7	breast:	n/a	n/a
29	CEBPB	chr1:246917259-246917518	Hela-S3	cervix:	n/a	n/a
30	CEBPB	chr1:246912221-246912751	MCF-7	breast:	n/a	n/a
31	CEBPB	chr1:246917328-246917543	H1-hESC	embryonic stem cell:	n/a	n/a
32	CEBPB	chr1:246945459-246945696	HepG2	liver:	n/a	n/a
33	CEBPB	chr1:246894193-246894386	IMR90	lung:	n/a	chr1:246894312-246894323
34	CEBPB	chr1:246894138-246894433	HepG2	liver:	n/a	chr1:246894312-246894323
35	CEBPB	chr1:246958868-246958981	H1-hESC	embryonic stem cell:	n/a	n/a
36	CEBPB	chr1:246894158-246894438	A549	lung:	n/a	chr1:246894312-246894323
37	CEBPB	chr1:246912470-246912559	K562	blood:	n/a	n/a
38	CHD1	chr1:246936262-246936438	GM12878	blood:	n/a	n/a
39	CHD2	chr1:246917288-246917513	H1-hESC	embryonic stem cell:	n/a	n/a
40	CHD2	chr1:246948608-246948795	HepG2	liver:	n/a	n/a
41	CHD2	chr1:246953803-246953918	HepG2	liver:	n/a	n/a
42	CHD2	chr1:246917252-246917556	Hela-S3	cervix:	n/a	n/a
43	CHD2	chr1:246932699-246932883	Hela-S3	cervix:	n/a	n/a
44	CHD2	chr1:246958101-246958430	Hela-S3	cervix:	n/a	n/a
45	CHD2	chr1:246952470-246952539	HepG2	liver:	n/a	n/a
46	CHD2	chr1:246951297-246951689	HepG2	liver:	n/a	chr1:246951311-246951321
47	CHD2	chr1:246917352-246917547	K562	blood:	n/a	n/a
48	CREB1	chr1:246936369-246936938	GM12878	blood:	n/a	n/a
49	CTCF	chr1:246917163-246917631	GM12878	blood:	n/a	n/a
50	CTCF	chr1:246949141-246949212	Spleen_OC	spleen:	n/a	n/a

(count:2137 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:246939453-246939503	CMK	blood:	n/a
2	chr1:246942431-246942481	PrEC	prostate:	n/a
3	chr1:246939453-246939503	CMK	blood:	n/a
4	chr1:246942431-246942481	PrEC	prostate:	n/a
5	chr1:246939216-246939266	GM12891	blood:	n/a
6	chr1:246917879-246917929	GM12892	blood:	n/a
7	chr1:246952362-246952412	HCPEpiC	choroid plexus:	n/a
8	chr1:246959476-246959526	ECC-1	luminal epithelium:	n/a
9	chr1:246958862-246958912	AG10803	skin:	n/a
10	chr1:246952362-246952412	SK-N-SH_RA	brain:	n/a
11	chr1:246954130-246954180	AG04449	skin:	fetal
12	chr1:246954397-246954447	HCM	heart:	n/a
13	chr1:246954130-246954180	BE2_C	brain:	n/a
14	chr1:246954130-246954180	H1-hESC	embryonic stem cell:	embryo
15	chr1:246952914-246952964	GM06990	blood:	n/a
16	chr1:246948597-246948647	AG10803	skin:	n/a
17	chr1:246959150-246959200	HCF	heart:	n/a
18	chr1:246958862-246958912	HPAEpiC	pulmonary alveolar:	n/a
19	chr1:246939249-246939299	RPTEC	kidney:	n/a
20	chr1:246955186-246955236	SAEC	small airway:	n/a
21	chr1:246959150-246959200	HUVEC	blood vessel:	n/a
22	chr1:246917879-246917929	HRCEpiC	kidney:	n/a
23	chr1:246958957-246959007	ProgFib	skin:	n/a
24	chr1:246943745-246943795	U87	brain:	n/a
25	chr1:246952889-246952939	LNCaP	prostate:	n/a
26	chr1:246953273-246953323	NH-A	brain:	n/a
27	chr1:246948597-246948647	HL-60	blood:	n/a
28	chr1:246939407-246939457	GM06990	blood:	n/a
29	chr1:246952362-246952412	NB4	blood:	n/a
30	chr1:246952495-246952545	AG09319	gingival:	n/a
31	chr1:246958421-246958471	NT2-D1	testis:	n/a
32	chr1:246939499-246939549	HEK293	kidney:	embryo
33	chr1:246958927-246958977	K562	blood:	n/a
34	chr1:246954130-246954180	HRPEpiC	eye:	n/a
35	chr1:246954130-246954180	NT2-D1	testis:	n/a
36	chr1:246955186-246955236	PrEC	prostate:	n/a
37	chr1:246958421-246958471	NHBE	bronchial:	n/a
38	chr1:246939499-246939549	PANC-1	pancreas:	n/a
39	chr1:246952889-246952939	Jurkat	blood:	n/a
40	chr1:246959476-246959526	AG10803	skin:	n/a
41	chr1:246954130-246954180	HNPCEpiC	eye:	n/a
42	chr1:246952362-246952412	CMK	blood:	n/a
43	chr1:246958927-246958977	AG10803	skin:	n/a
44	chr1:246955186-246955236	Caco-2	colon:	n/a
45	chr1:246953273-246953323	T-47D	breast:	n/a
46	chr1:246952215-246952265	U87	brain:	n/a
47	chr1:246958957-246959007	ovcar-3	ovarian:	n/a
48	chr1:246958927-246958977	GM12892	blood:	n/a
49	chr1:246939407-246939457	HL-60	blood:	n/a
50	chr1:246942431-246942481	AG10803	skin:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr1:246959981..246962716-chr1:246996728..246998857,2	K562	blood:
2	chr1:246851356..246854003-chr1:246902517..246904591,2	K562	blood:
3	chr1:246933982..246937125-chr1:246938877..246940973,4	K562	blood:
4	chr1:246932646..246935152-chr1:246979853..246982699,2	K562	blood:
5	chr1:246897168..246899913-chr1:246904406..246907114,2	K562	blood:
6	chr1:246810150..246810952-chr1:246916713..246917868,5	MCF-7	breast:
7	chr1:246886819..246888757-chr1:246914269..246916145,2	MCF-7	breast:
8	chr1:246937235..246940255-chr1:246941352..246944349,3	K562	blood:
9	chr1:246945490..246947572-chr1:246949447..246951570,2	K562	blood:
10	chr1:246892836..246895374-chr1:246896028..246898230,2	K562	blood:
11	chr1:246886275..246889143-chr1:246911120..246913975,3	MCF-7	breast:
12	chr1:246940232..246941968-chr1:246942195..246944093,2	K562	blood:
13	chr1:246898340..246900023-chr1:246902071..246904016,2	K562	blood:
14	chr1:246929352..246931655-chr1:246940972..246943621,2	K562	blood:
15	chr1:246940112..246942102-chr1:247093044..247095026,2	K562	blood:
16	chr1:246897168..246899913-chr1:246904406..246907114,2	K562	blood:
17	chr1:246940232..246941968-chr1:246942195..246944093,2	K562	blood:
18	chr1:246959485..246962350-chr1:246964445..246966193,2	K562	blood:
19	chr1:246890586..246893581-chr1:246920009..246921935,2	MCF-7	breast:
20	chr1:246935414..246937125-chr1:246938877..246940791,2	K562	blood:
21	chr1:246961516..246963761-chr1:246966339..246968259,2	K562	blood:
22	chr1:246901571..246903132-chr1:246912422..246914944,2	K562	blood:
23	chr1:246940173..246942753-chr1:246943130..246945283,2	MCF-7	breast:
24	chr1:246887255..246889228-chr1:246910662..246914076,3	MCF-7	breast:
25	chr1:246951802..246955219-chr1:246959555..246964384,5	K562	blood:
26	chr1:246809490..246812170-chr1:246921388..246923239,2	MCF-7	breast:
27	chr1:246886185..246892082-chr1:246893127..246900077,11	K562	blood:
28	chr1:246922007..246925353-chr1:246926619..246930863,4	K562	blood:
29	chr1:246944573..246947572-chr1:246947936..246950947,5	K562	blood:
30	chr1:246946643..246948588-chr1:247104112..247106785,2	K562	blood:
31	chr1:246933982..246937125-chr1:246938877..246940973,4	K562	blood:
32	chr1:246660320..246661257-chr1:246916886..246917830,4	K562	blood:
33	chr1:246959485..246962350-chr1:246964445..246966193,2	K562	blood:
34	chr1:246940173..246942753-chr1:246943130..246945283,2	MCF-7	breast:
35	chr1:246941244..246944008-chr1:246946969..246949951,3	MCF-7	breast:
36	chr1:246852892..246854672-chr1:246916760..246919420,2	MCF-7	breast:
37	chr1:246966820..246969788-chr1:246972705..246974206,2	MCF-7	breast:
38	chr1:246860479..246862658-chr1:246926455..246929333,2	MCF-7	breast:
39	chr1:246911249..246913997-chr1:246914503..246916490,2	K562	blood:
40	chr1:246951287..246953566-chr1:246953954..246955878,2	K562	blood:
41	chr1:246867885..246870245-chr1:246910384..246912809,2	MCF-7	breast:
42	chr1:246947185..246952305-chr1:246952338..246955724,5	K562	blood:
43	chr1:246941558..246944485-chr20:45985608..45987605,2	MCF-7	breast:
44	chr1:246942351..246945041-chr1:246952061..246954954,2	K562	blood:
45	chr1:246951802..246955947-chr1:246959836..246963718,4	K562	blood:
46	chr1:246817628..246820326-chr1:246894643..246896981,2	MCF-7	breast:
47	chr1:246852518..246853416-chr1:246916861..246918256,7	MCF-7	breast:
48	chr1:246935414..246937125-chr1:246938877..246940791,2	K562	blood:
49	chr1:246934177..246937192-chr1:246941017..246944440,4	K562	blood:
50	chr1:246960568..246961069-chr15:101792577..101793077,2	Hela-S3	cervix:

(count:35 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SCCPDH-1	chr1:246955359-246955843	NONHSAT010737
2	lnc-SCCPDH-1	chr1:246947183-246947345	NONHSAT010737
3	lnc-SCCPDH-1	chr1:246953748-246954148	NONHSAT010736
4	lnc-SCCPDH-1	chr1:246953748-246955687	ENSG00000227953.2
5	lnc-SCCPDH-1	chr1:246935603-246939074	ENSG00000260855.1
6	lnc-SCCPDH-1	chr1:246935607-246937461	NONHSAT010724
7	lnc-CNST-3	chr1:246922528-246922646	NONHSAT010721
8	lnc-SCCPDH-1	chr1:246947201-246947345	NONHSAT010738
9	lnc-SCCPDH-1	chr1:246953748-246954148	NONHSAT139944
10	lnc-SCCPDH-1	chr1:246955359-246955689	XLOC_000643
11	lnc-SCCPDH-1	chr1:246955359-246955687	XLOC_000643
12	lnc-CNST-3	chr1:246922115-246922142	NONHSAT010721
13	lnc-SCCPDH-1	chr1:246952694-246953000	NONHSAT010736
14	lnc-SCCPDH-1	chr1:246953926-246954148	XLOC_000643
15	lnc-CNST-3	chr1:246926951-246927131	NONHSAT010721
16	lnc-CNST-3	chr1:246928783-246929034	NONHSAT010721
17	lnc-RP11-439E19.8.1-1	chr1:246918813-246919134	NONHSAT010720
18	lnc-SCCPDH-1	chr1:246952785-246953000	NONHSAT139944
19	lnc-SCCPDH-1	chr1:246952919-246953000	XLOC_000643
20	lnc-SCCPDH-1	chr1:246946701-246947345	NONHSAT010736
21	lnc-SCCPDH-1	chr1:246953748-246954148	NONHSAT010737
22	lnc-SCCPDH-1	chr1:246955359-246955691	NONHSAT010736
23	lnc-SCCPDH-1	chr1:246955359-246955790	XLOC_000643
24	lnc-SCCPDH-1	chr1:246954044-246954488	NONHSAT010738
25	lnc-SCCPDH-1	chr1:246955359-246955607	NONHSAT139944
26	lnc-SCCPDH-1	chr1:246954044-246954148	XLOC_000643
27	lnc-SCCPDH-1	chr1:246937472-246939075	NONHSAT010724
28	lnc-SCCPDH-1	chr1:246952810-246953000	NONHSAT010737
29	lnc-SCCPDH-1	chr1:246952827-246953000	XLOC_000643
30	lnc-SCCPDH-1	chr1:246953748-246954148	XLOC_000643
31	lnc-SCCPDH-1	chr1:246953748-246954788	XLOC_000643
32	lnc-SCCPDH-1	chr1:246952810-246953000	XLOC_000643
33	lnc-SCCPDH-1	chr1:246952810-246953000	NONHSAT010738
34	lnc-SCCPDH-1	chr1:246952396-246953000	ENSG00000227953.2
35	lnc-SCCPDH-1	chr1:246947036-246947345	XLOC_000643

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	SCCPDH	hsa-miR-15b-5p	chr1:246931173-246931194

Variant related genes	Relation type
KIF28P	TF binding region
ENSG00000227953	TF binding region
ENSG00000260855	TF binding region
ENSG00000252495	TF binding region
ENSG00000228879	TF binding region
KIF28P	CpG island
ENSG00000227953	CpG island
ENSG00000260855	CpG island
ENSG00000252495	CpG island
ENSG00000228879	CpG island
ENSG00000260855	chromatin interactions
ENSG00000227953	chromatin interactions
ENSG00000223519	chromatin interactions
ENSG00000235021	chromatin interactions
ENSG00000143653	chromatin interactions
ENSG00000252011	chromatin interactions
ENSG00000235386	chromatin interactions
ENSG00000153207	chromatin interactions
DDX42	miRNA target sites
C9orf5	miRNA target sites
E2F3	miRNA target sites
DDX3Y	miRNA target sites

Extended variants
information (count: 3222 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:3222 , 50 per page) page: 1 2 3 4 5 6 7 ... 65

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6657743	chr1:246893948-246893949	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs570923146	chr1:246893960-246893961	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs568397079	chr1:246894020-246894021	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs114613614	chr1:246894021-246894022	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs35943672	chr1:246894031-246894032	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs138296244	chr1:246894035-246894036	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs537587623	chr1:246894087-246894088	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs373046901	chr1:246894089-246894090	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs181041692	chr1:246894150-246894151	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs567704422	chr1:246894163-246894164	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs185514875	chr1:246894180-246894181	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs572472209	chr1:246894186-246894187	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs189678999	chr1:246894187-246894188	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs56764431	chr1:246894188-246894189	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs149181193	chr1:246894265-246894266	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs577938817	chr1:246894295-246894296	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs538921103	chr1:246894306-246894307	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs543650868	chr1:246894312-246894313	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs144679655	chr1:246894317-246894318	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs528917424	chr1:246894319-246894320	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs548673242	chr1:246894324-246894325	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs565309183	chr1:246894338-246894339	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs138562985	chr1:246894360-246894361	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs547757638	chr1:246894406-246894407	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs375426871	chr1:246894412-246894413	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs75015497	chr1:246894425-246894426	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs114174931	chr1:246894440-246894441	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs556834799	chr1:246894454-246894455	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs542752450	chr1:246894455-246894456	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs570270402	chr1:246894462-246894463	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs141618056	chr1:246894490-246894491	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs555916263	chr1:246894526-246894527	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs572458090	chr1:246894557-246894558	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs188965812	chr1:246894561-246894562	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs192072268	chr1:246894595-246894596	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs377178245	chr1:246894646-246894647	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs577911608	chr1:246894653-246894654	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs75281417	chr1:246894675-246894676	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs7552326	chr1:246894676-246894677	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs77173923	chr1:246894690-246894691	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs184106225	chr1:246894711-246894712	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs542281405	chr1:246894719-246894720	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs559056372	chr1:246894726-246894727	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs528053501	chr1:246894785-246894786	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs187416936	chr1:246894790-246894791	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs571045756	chr1:246894856-246894857	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs372695185	chr1:246894886-246894887	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs550496749	chr1:246894948-246894949	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs141809081	chr1:246894999-246895000	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs112308368	chr1:246895035-246895036	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	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
Neuroblastoma	21899760	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	20729466	CNVD
Testicular germ cell tumor	18059402	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	22291905	CNVD
Myelofibrosis	22110671	CNVD
Disease	21936942	CNVD
laryngomalacia	21936942	CNVD
GLUT3 deficiency syndrome	20509907	CNVD
Developmental delay	21373258	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Developmental delay	19490664	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Cutaneous malignant melanoma	18794153	CNVD
Astrocytoma	17934521	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Breast cancer	20409316	CNVD
Fibroblasts	17951408	CNVD
Lung cancer	17951408	CNVD
early-passage human iPS cells	21368824	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:2268 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:246888400-246896000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr1:246888400-246900000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr1:246888400-246902000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:246888400-246903800	Weak transcription	Primary B cells from peripheral blood	blood
5	chr1:246888400-246946400	Weak transcription	Small Intestine	intestine
6	chr1:246888600-246901400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr1:246888600-246945600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr1:246888800-246897400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr1:246888800-246904000	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr1:246888800-246904800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr1:246889000-246929000	Weak transcription	Stomach Mucosa	stomach
12	chr1:246889200-246900600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr1:246889400-246894000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:246889600-246907000	Strong transcription	Fetal Muscle Trunk	muscle
15	chr1:246890000-246894600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:246890000-246895000	Strong transcription	Fetal Kidney	kidney
17	chr1:246890200-246894000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
18	chr1:246890200-246895000	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr1:246890200-246895000	Strong transcription	HUVEC	blood vessel
20	chr1:246890200-246895400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr1:246890200-246896400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr1:246890200-246896400	Strong transcription	Rectal Mucosa Donor 31	rectum
23	chr1:246890200-246897800	Strong transcription	Fetal Lung	lung
24	chr1:246890200-246898200	Strong transcription	Primary T cells from cord blood	blood
25	chr1:246890200-246898200	Strong transcription	Skeletal Muscle Male	skeletal muscle
26	chr1:246890200-246901000	Strong transcription	Osteobl	bone
27	chr1:246890200-246901200	Strong transcription	Fetal Brain Female	brain
28	chr1:246890200-246901200	Strong transcription	HSMMtube	muscle
29	chr1:246890200-246901600	Strong transcription	Fetal Thymus	thymus
30	chr1:246890200-246901600	Strong transcription	Skeletal Muscle Female	skeletal muscle
31	chr1:246890200-246902800	Strong transcription	Left Ventricle	heart
32	chr1:246890200-246905000	Strong transcription	Duodenum Mucosa	Duodenum
33	chr1:246890200-246906600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr1:246890200-246913200	Strong transcription	Fetal Muscle Leg	muscle
35	chr1:246890400-246894200	Strong transcription	Psoas Muscle	Psoas
36	chr1:246890400-246894600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr1:246890400-246895000	Strong transcription	NHDF-Ad	bronchial
38	chr1:246890400-246896600	Strong transcription	Muscle Satellite Cultured Cells	--
39	chr1:246890400-246896800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr1:246890400-246907400	Strong transcription	Stomach Smooth Muscle	stomach
41	chr1:246890400-246909000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr1:246890600-246905000	Strong transcription	Brain Anterior Caudate	brain
43	chr1:246890600-246907600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr1:246890600-246914000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr1:246890800-246894800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr1:246890800-246895000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr1:246890800-246895000	Strong transcription	Ovary	ovary
48	chr1:246890800-246895600	Strong transcription	NHLF	lung
49	chr1:246890800-246896200	Strong transcription	Colon Smooth Muscle	Colon
50	chr1:246890800-246897000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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