Variant report

Variant	nsv575936
Chromosome Location	chr17:67264339-67327806
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:852)
CpG islands
(count:1100)
Chromatin interactive
region (count:54)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:852 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr17:67264482-67266037	HepG2	liver:	n/a	n/a
2	ARID3A	chr17:67323241-67323542	K562	blood:	n/a	n/a
3	ARID3A	chr17:67322697-67323979	HepG2	liver:	n/a	n/a
4	ARID3A	chr17:67321620-67322452	HepG2	liver:	n/a	n/a
5	ATF2	chr17:67322488-67322894	GM12878	blood:	n/a	n/a
6	ATF2	chr17:67322489-67322857	GM12878	blood:	n/a	n/a
7	ATF2	chr17:67323046-67323721	GM12878	blood:	n/a	n/a
8	ATF2	chr17:67323419-67323789	GM12878	blood:	n/a	n/a
9	ATF3	chr17:67323190-67323530	K562	blood:	n/a	chr17:67323279-67323288
10	BACH1	chr17:67316422-67316714	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr17:67322638-67323936	H1-hESC	embryonic stem cell:	n/a	n/a
12	BCL11A	chr17:67322553-67322862	GM12878	blood:	n/a	chr17:67322643-67322652
13	BCL3	chr17:67265338-67265896	A549	lung:	n/a	n/a
14	BCLAF1	chr17:67322918-67323803	GM12878	blood:	n/a	chr17:67323163-67323176 chr17:67323162-67323171 chr17:67323165-67323174 chr17:67323501-67323514
15	BHLHE40	chr17:67322545-67322873	GM12878	blood:	n/a	n/a
16	BHLHE40	chr17:67322618-67323966	HepG2	liver:	n/a	chr17:67323165-67323181 chr17:67323340-67323356
17	BHLHE40	chr17:67323071-67323737	K562	blood:	n/a	chr17:67323165-67323181 chr17:67323340-67323356
18	BHLHE40	chr17:67323162-67323370	A549	lung:	n/a	chr17:67323165-67323181 chr17:67323340-67323356
19	BHLHE40	chr17:67319090-67319226	A549	lung:	n/a	n/a
20	BHLHE40	chr17:67323089-67324241	GM12878	blood:	n/a	chr17:67323165-67323181 chr17:67323340-67323356
21	BRCA1	chr17:67265205-67265899	Hela-S3	cervix:	n/a	n/a
22	BRCA1	chr17:67323615-67323626	HepG2	liver:	n/a	n/a
23	BRCA1	chr17:67264886-67264919	Hela-S3	cervix:	n/a	n/a
24	BRCA1	chr17:67323553-67323665	GM12878	blood:	n/a	n/a
25	BRCA1	chr17:67323040-67323180	HepG2	liver:	n/a	n/a
26	CBX3	chr17:67323039-67323756	K562	blood:	n/a	n/a
27	CCNT2	chr17:67322875-67323592	K562	blood:	n/a	chr17:67322919-67322928
28	CEBPB	chr17:67273690-67273800	A549	lung:	n/a	n/a
29	CEBPB	chr17:67265155-67265890	IMR90	lung:	n/a	chr17:67265481-67265494 chr17:67265546-67265559 chr17:67265481-67265494 chr17:67265481-67265492
30	CEBPB	chr17:67296461-67296759	Hela-S3	cervix:	n/a	chr17:67296597-67296608
31	CEBPB	chr17:67296464-67296729	IMR90	lung:	n/a	chr17:67296597-67296608
32	CEBPB	chr17:67264698-67265934	HepG2	liver:	n/a	chr17:67265481-67265494 chr17:67265546-67265559 chr17:67265044-67265057 chr17:67265481-67265494 chr17:67265481-67265492
33	CEBPB	chr17:67265197-67265874	MCF-7	breast:	n/a	chr17:67265481-67265494 chr17:67265546-67265559 chr17:67265481-67265494 chr17:67265481-67265492
34	CEBPB	chr17:67265405-67265718	H1-hESC	embryonic stem cell:	n/a	chr17:67265481-67265494 chr17:67265546-67265559 chr17:67265481-67265494 chr17:67265481-67265492
35	CEBPB	chr17:67273543-67273730	HepG2	liver:	n/a	chr17:67273642-67273653
36	CEBPB	chr17:67265489-67265706	HepG2	liver:	n/a	chr17:67265546-67265559
37	CEBPB	chr17:67323202-67323542	Hela-S3	cervix:	n/a	n/a
38	CEBPB	chr17:67296425-67296785	HepG2	liver:	n/a	chr17:67296597-67296608
39	CEBPB	chr17:67265387-67265676	ECC-1	luminal epithelium:	n/a	chr17:67265481-67265494 chr17:67265546-67265559 chr17:67265481-67265494 chr17:67265481-67265492
40	CEBPB	chr17:67265050-67266070	MCF-7	breast:	n/a	chr17:67265481-67265494 chr17:67265546-67265559 chr17:67265481-67265494 chr17:67265481-67265492
41	CEBPB	chr17:67319762-67320033	Hela-S3	cervix:	n/a	chr17:67319873-67319885
42	CEBPB	chr17:67264803-67265916	A549	lung:	n/a	chr17:67265481-67265494 chr17:67265546-67265559 chr17:67265044-67265057 chr17:67265481-67265494 chr17:67265481-67265492
43	CEBPB	chr17:67323258-67323441	H1-hESC	embryonic stem cell:	n/a	n/a
44	CEBPB	chr17:67265288-67265706	K562	blood:	n/a	chr17:67265481-67265494 chr17:67265546-67265559 chr17:67265481-67265494 chr17:67265481-67265492
45	CEBPB	chr17:67304909-67304998	A549	lung:	n/a	chr17:67304945-67304956 chr17:67304945-67304958 chr17:67304947-67304958 chr17:67304945-67304958
46	CEBPB	chr17:67296470-67296794	A549	lung:	n/a	chr17:67296597-67296608
47	CEBPB	chr17:67264837-67265134	HepG2	liver:	n/a	chr17:67265044-67265057
48	CEBPB	chr17:67296434-67296630	H1-hESC	embryonic stem cell:	n/a	chr17:67296597-67296608
49	CEBPB	chr17:67282439-67282997	Hela-S3	cervix:	n/a	chr17:67282905-67282916
50	CEBPB	chr17:67296475-67296752	K562	blood:	n/a	chr17:67296597-67296608

(count:1100 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:67311918-67311968	HNPCEpiC	eye:	n/a
2	chr17:67323276-67323326	HRPEpiC	eye:	n/a
3	chr17:67311918-67311968	HNPCEpiC	eye:	n/a
4	chr17:67323276-67323326	HRPEpiC	eye:	n/a
5	chr17:67323709-67323759	Hela-S3	cervix:	n/a
6	chr17:67322737-67322787	HepG2	liver:	n/a
7	chr17:67323276-67323326	AG04450	lung:	fetal
8	chr17:67322525-67322575	HCM	heart:	n/a
9	chr17:67323501-67323551	T-47D	breast:	n/a
10	chr17:67322737-67322787	SK-N-SH	brain:	n/a
11	chr17:67326602-67326652	AG09319	gingival:	n/a
12	chr17:67319224-67319274	SKMC	muscle:	n/a
13	chr17:67311918-67311968	HMEC	breast:	n/a
14	chr17:67312371-67312421	HEEpiC	esophagus:	n/a
15	chr17:67322737-67322787	H1-hESC	embryonic stem cell:	embryo
16	chr17:67323768-67323818	NHDF-neo	bronchial:	n/a
17	chr17:67323768-67323818	HEK293	kidney:	embryo
18	chr17:67323953-67324003	NHBE	bronchial:	n/a
19	chr17:67322833-67322883	HEEpiC	esophagus:	n/a
20	chr17:67312052-67312102	HIPEpiC	eye:	n/a
21	chr17:67323282-67323332	BJ	skin:	n/a
22	chr17:67323284-67323334	HAEpiC	amniotic membrane:	n/a
23	chr17:67310842-67310892	ECC-1	luminal epithelium:	n/a
24	chr17:67323922-67323972	SAEC	small airway:	n/a
25	chr17:67322525-67322575	MCF-7	breast:	n/a
26	chr17:67322833-67322883	AG04449	skin:	fetal
27	chr17:67323282-67323332	HL-60	blood:	n/a
28	chr17:67312052-67312102	AG04450	lung:	fetal
29	chr17:67326602-67326652	HMEC	breast:	n/a
30	chr17:67323276-67323326	ECC-1	luminal epithelium:	n/a
31	chr17:67311918-67311968	HCF	heart:	n/a
32	chr17:67319224-67319274	AG09319	gingival:	n/a
33	chr17:67323953-67324003	HRPEpiC	eye:	n/a
34	chr17:67312371-67312421	BE2_C	brain:	n/a
35	chr17:67323709-67323759	Jurkat	blood:	n/a
36	chr17:67323768-67323818	Hela-S3	cervix:	n/a
37	chr17:67323284-67323334	SK-N-SH	brain:	n/a
38	chr17:67311918-67311968	BE2_C	brain:	n/a
39	chr17:67311918-67311968	HCPEpiC	choroid plexus:	n/a
40	chr17:67326602-67326652	SK-N-MC	brain:	n/a
41	chr17:67323953-67324003	RPTEC	kidney:	n/a
42	chr17:67322737-67322787	HNPCEpiC	eye:	n/a
43	chr17:67322833-67322883	Jurkat	blood:	n/a
44	chr17:67322525-67322575	HEK293	kidney:	embryo
45	chr17:67323276-67323326	HUVEC	blood vessel:	n/a
46	chr17:67323501-67323551	PFSK-1	brain:	n/a
47	chr17:67323768-67323818	HCM	heart:	n/a
48	chr17:67322525-67322575	SK-N-MC	brain:	n/a
49	chr17:67322525-67322575	Caco-2	colon:	n/a
50	chr17:67312052-67312102	GM06990	blood:	n/a

(count:54 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr17:67296567..67298509-chr17:67301051..67302753,2	MCF-7	breast:
2	chr17:67286096..67288972-chr17:67296420..67299153,2	MCF-7	breast:
3	chr17:67302738..67306142-chr17:67312679..67315678,3	MCF-7	breast:
4	chr17:67305293..67307123-chr17:67307147..67309014,2	MCF-7	breast:
5	chr17:67320335..67330619-chr17:73766697..73778324,31	MCF-7	breast:
6	chr17:67322138..67324719-chr17:73807664..73810547,2	MCF-7	breast:
7	chr17:67307415..67308999-chr17:67312227..67313741,2	MCF-7	breast:
8	chr17:67264212..67266413-chr17:67284250..67287050,2	K562	blood:
9	chr17:67323371..67325282-chr17:73779557..73781105,2	MCF-7	breast:
10	chr17:67299583..67302487-chr17:67310542..67312734,2	MCF-7	breast:
11	chr17:67307812..67310320-chr17:67310542..67312902,2	MCF-7	breast:
12	chr17:67296567..67298509-chr17:67301051..67302753,2	MCF-7	breast:
13	chr17:67266447..67268374-chr17:67272475..67274027,2	MCF-7	breast:
14	chr17:66312138..66314512-chr17:67323585..67325244,2	MCF-7	breast:
15	chr17:67278548..67281186-chr17:67283240..67285256,2	K562	blood:
16	chr17:67315824..67317637-chr17:73759992..73762328,2	MCF-7	breast:
17	chr17:67302832..67306346-chr17:67321797..67325175,5	MCF-7	breast:
18	chr17:67266447..67268374-chr17:67272475..67274027,2	MCF-7	breast:
19	chr17:67322761..67325274-chr17:73781239..73785058,4	MCF-7	breast:
20	chr17:67325454..67338838-chr17:73810118..73818942,31	MCF-7	breast:
21	chr17:67304720..67306221-chr20:56847823..56849619,2	MCF-7	breast:
22	chr17:67319568..67321227-chr17:67322205..67324296,2	K562	blood:
23	chr17:67319063..67338122-chr17:73766152..73783684,87	MCF-7	breast:
24	chr17:67290813..67292648-chr17:67293776..67295473,2	MCF-7	breast:
25	chr17:67306645..67309454-chr17:67315201..67317494,2	MCF-7	breast:
26	chr17:67257444..67260206-chr17:67267732..67269539,2	MCF-7	breast:
27	chr17:67289223..67292742-chr17:67297917..67300838,3	MCF-7	breast:
28	chr17:67327538..67330079-chr17:73803754..73806052,2	MCF-7	breast:
29	chr17:67323424..67325863-chr17:68604112..68606610,2	MCF-7	breast:
30	chr17:67310195..67312056-chr17:67315862..67318011,2	MCF-7	breast:
31	chr17:67302738..67306142-chr17:67312679..67315678,3	MCF-7	breast:
32	chr17:67275497..67277024-chr17:73774600..73777257,2	MCF-7	breast:
33	chr12:116828070..116828623-chr17:67268777..67269752,2	MCF-7	breast:
34	chr12:113622549..113624896-chr17:67326315..67328769,2	MCF-7	breast:
35	chr17:67290813..67292648-chr17:67293776..67295473,2	MCF-7	breast:
36	chr17:65989640..65991330-chr17:67322601..67324607,2	MCF-7	breast:
37	chr15:40213124..40213699-chr17:67323085..67323765,2	Hela-S3	cervix:
38	chr17:67323272..67324897-chr17:73808118..73810953,2	MCF-7	breast:
39	chr17:67321326..67323057-chr17:73804111..73806636,2	MCF-7	breast:
40	chr17:67307415..67308999-chr17:67312227..67313741,2	MCF-7	breast:
41	chr17:67306645..67309454-chr17:67315201..67317494,2	MCF-7	breast:
42	chr1:155162793..155163414-chr17:67323501..67324001,2	Hela-S3	cervix:
43	chr17:67323434..67325106-chr17:67412103..67414795,2	MCF-7	breast:
44	chr17:67302832..67306346-chr17:67321797..67325175,5	MCF-7	breast:
45	chr17:65987873..65991052-chr17:67322121..67324983,3	MCF-7	breast:
46	chr17:67314877..67316596-chr17:73774432..73776155,2	MCF-7	breast:
47	chr17:67312349..67314720-chr17:67316616..67318624,2	MCF-7	breast:
48	chr17:67321198..67325432-chr17:73812405..73817349,6	MCF-7	breast:
49	chr17:67312349..67314720-chr17:67316616..67318624,2	MCF-7	breast:
50	chr17:67313140..67316033-chr17:67326236..67328234,2	MCF-7	breast:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ABCA10-4	chr17:67321840-67321958	NONHSAT055577
2	lnc-ABCA10-4	chr17:67313041-67313373	NONHSAT055577
3	lnc-ABCA10-4	chr17:67323193-67323252	NONHSAT055577
4	lnc-MAP2K6-7	chr17:67314874-67315102	NONHSAT055578
5	lnc-ABCA10-4	chr17:67313846-67313964	NONHSAT055577

No data

Variant related genes	Relation type
ABCA5	TF binding region
SNRPGP4	TF binding region
ABCA5	CpG island
SNRPGP4	CpG island
ENSG00000186665	chromatin interactions
ENSG00000132475	chromatin interactions
ENSG00000246863	chromatin interactions
ENSG00000154265	chromatin interactions
ENSG00000139405	chromatin interactions
ENSG00000267203	chromatin interactions
ENSG00000263565	chromatin interactions
ENSG00000124224	chromatin interactions
ENSG00000108479	chromatin interactions
ENSG00000123064	chromatin interactions
ENSG00000132478	chromatin interactions
ENSG00000266980	chromatin interactions

Extended variants
information (count: 2529 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:2529 , 50 per page) page: 1 2 3 4 5 6 7 ... 51

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs817126	chr17:67264339-67264340	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs569755886	chr17:67264345-67264346	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531136283	chr17:67264371-67264372	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs552756289	chr17:67264427-67264428	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs9889277	chr17:67264432-67264433	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs535309049	chr17:67264487-67264488	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs553369410	chr17:67264493-67264494	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs369214051	chr17:67264548-67264549	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs535471262	chr17:67264558-67264559	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs79000044	chr17:67264572-67264573	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs575287124	chr17:67264581-67264582	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs543220246	chr17:67264583-67264584	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs558293666	chr17:67264621-67264622	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs368308550	chr17:67264652-67264653	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs184753043	chr17:67264693-67264694	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs548399243	chr17:67264719-67264720	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs189677452	chr17:67264734-67264735	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs539009399	chr17:67264827-67264828	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs77760694	chr17:67264833-67264834	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs529744296	chr17:67264848-67264849	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs541415816	chr17:67264856-67264857	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs145844416	chr17:67264862-67264863	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs57949169	chr17:67264886-67264887	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs369781242	chr17:67264893-67264894	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs138405269	chr17:67264901-67264902	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs142864339	chr17:67264906-67264907	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs200761392	chr17:67264914-67264915	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs528661877	chr17:67264932-67264933	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs145030179	chr17:67265018-67265019	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs192532258	chr17:67265062-67265063	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs138733558	chr17:67265071-67265072	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs183654239	chr17:67265100-67265101	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs189287526	chr17:67265139-67265140	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs532602279	chr17:67265148-67265149	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs149341415	chr17:67265281-67265282	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs557806318	chr17:67265291-67265292	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs576670997	chr17:67265300-67265301	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs537590073	chr17:67265310-67265311	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs144671456	chr17:67265317-67265318	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs16973883	chr17:67265361-67265362	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs148698769	chr17:67265381-67265382	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs35983695	chr17:67265472-67265473	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs142892959	chr17:67265481-67265482	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs563247112	chr17:67265501-67265502	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs575291241	chr17:67265539-67265540	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs545954624	chr17:67265559-67265560	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs564160410	chr17:67265560-67265561	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs528730089	chr17:67265565-67265566	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs546830815	chr17:67265660-67265661	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs562413619	chr17:67265740-67265741	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Melanoma	18172304	CNVD
Moyamoya disease	22323933	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ovarian cancer	21781307	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Chordoma	21602918	CNVD
Neurofibromatosis	20686819	CNVD
Peripheral nerve sheath tumors	20686819	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	17897457	CNVD
Neuroblastoma	17327916	CNVD
Breast cancer	21264507	CNVD
Endometrial cancer	22040021	CNVD
Neuroblastoma	21484798	CNVD
Breast cancer	22028636	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute myeloid leukemia	20724749	CNVD
lymphocytic leukemia	21291569	CNVD
Gastric cancer	17167181	CNVD
Breast cancer	19287154	CNVD
Leukemia	20874852	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Neuroblastoma	18664255	CNVD
Neuroblastoma	17533364	CNVD
Human rectal carcinomas	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Neuroblastoma	18923191	CNVD
Bladder cancer	21909424	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Ewing''s sarcoma	22429812	CNVD
Prostate cancer	18632612	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	21509527	CNVD
Chordoma	18071362	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	21523713	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21364760	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21858162	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
Cancer	21129771	CNVD
Congenital generalized hypertrichosis terminalis	19463983	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Gingival hyperplasia	19463983	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Neuroblastoma	20406844	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16417655	CNVD
Breast cancer	21045282	CNVD
Sezary syndrome	18413736	CNVD
Honadal dysgenesis	21408189	CNVD
Basal cell lymphoma	17053054	CNVD
Acute monocytic leukemia	16498392	CNVD

Chromatin state (count:1328 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:67230800-67271800	Weak transcription	Pancreas	Pancrea
2	chr17:67235000-67289000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr17:67236000-67283000	Weak transcription	Ovary	ovary
4	chr17:67236400-67278000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr17:67236800-67280800	Weak transcription	Brain Angular Gyrus	brain
6	chr17:67236800-67298800	Weak transcription	Psoas Muscle	Psoas
7	chr17:67238800-67278000	Weak transcription	Thymus	Thymus
8	chr17:67240000-67289200	Weak transcription	Esophagus	oesophagus
9	chr17:67240000-67296000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr17:67242000-67265000	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr17:67242200-67265000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr17:67242200-67265000	Weak transcription	NHEK	skin
13	chr17:67242400-67289400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr17:67243000-67264800	Weak transcription	NHDF-Ad	bronchial
15	chr17:67243600-67305600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr17:67244000-67321800	Weak transcription	Right Ventricle	heart
17	chr17:67245800-67278000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr17:67248000-67284400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr17:67249000-67264600	Weak transcription	Left Ventricle	heart
20	chr17:67249000-67278400	Weak transcription	Fetal Intestine Small	intestine
21	chr17:67250000-67289200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr17:67250200-67280800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr17:67250800-67264600	Weak transcription	Osteobl	bone
24	chr17:67250800-67265200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr17:67250800-67277800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr17:67251200-67279000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr17:67251400-67272000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr17:67251400-67273000	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr17:67251400-67277600	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr17:67251400-67277800	Weak transcription	Stomach Smooth Muscle	stomach
31	chr17:67251400-67278000	Weak transcription	Primary T cells from cord blood	blood
32	chr17:67251600-67265800	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr17:67251600-67265800	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr17:67251600-67274000	Weak transcription	GM12878-XiMat	blood
35	chr17:67251600-67278200	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr17:67251600-67289200	Weak transcription	Brain Anterior Caudate	brain
37	chr17:67251800-67264600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr17:67251800-67264800	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr17:67252200-67264600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr17:67252400-67272400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr17:67253200-67278200	Weak transcription	Placenta	Placenta
42	chr17:67255600-67272000	Weak transcription	Duodenum Mucosa	Duodenum
43	chr17:67257600-67278000	Weak transcription	Adipose Nuclei	Adipose
44	chr17:67258600-67264800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr17:67259800-67271800	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr17:67260600-67264600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr17:67261000-67273000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr17:67261200-67265400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr17:67261400-67279200	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr17:67261400-67322000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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