Variant report

Variant	nsv575843
Chromosome Location	chr17:59869081-59935723
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr17:59914633-59915019	HepG2	liver:	n/a	n/a
2	ARID3A	chr17:59914612-59915117	K562	blood:	n/a	chr17:59914621-59914637
3	ATF1	chr17:59887540-59887852	K562	blood:	n/a	n/a
4	ATF1	chr17:59873066-59873082	K562	blood:	n/a	n/a
5	ATF3	chr17:59911002-59911228	K562	blood:	n/a	n/a
6	BATF	chr17:59877431-59877718	GM12878	blood:	n/a	n/a
7	BATF	chr17:59899782-59900304	GM12878	blood:	n/a	n/a
8	BATF	chr17:59899793-59900416	GM12878	blood:	n/a	n/a
9	BRCA1	chr17:59910967-59911277	Hela-S3	cervix:	n/a	n/a
10	CBX3	chr17:59910832-59911403	HCT-116	colon:	n/a	n/a
11	CCNT2	chr17:59933501-59933662	K562	blood:	n/a	n/a
12	CEBPB	chr17:59905997-59906318	A549	lung:	n/a	n/a
13	CEBPB	chr17:59904328-59907370	MCF-7	breast:	n/a	n/a
14	CEBPB	chr17:59887096-59887870	IMR90	lung:	n/a	chr17:59887671-59887688 chr17:59887673-59887684 chr17:59887672-59887685
15	CEBPB	chr17:59910960-59915868	MCF-7	breast:	n/a	n/a
16	CEBPB	chr17:59887479-59887843	A549	lung:	n/a	chr17:59887671-59887688 chr17:59887673-59887684 chr17:59887672-59887685
17	CEBPB	chr17:59905901-59906407	HepG2	liver:	n/a	n/a
18	CEBPB	chr17:59884572-59884745	IMR90	lung:	n/a	chr17:59884651-59884662
19	CEBPB	chr17:59887499-59887855	Hela-S3	cervix:	n/a	chr17:59887671-59887688 chr17:59887673-59887684 chr17:59887672-59887685
20	CEBPB	chr17:59887401-59887934	A549	lung:	n/a	chr17:59887671-59887688 chr17:59887673-59887684 chr17:59887672-59887685
21	CEBPB	chr17:59867828-59872635	MCF-7	breast:	n/a	chr17:59871260-59871271 chr17:59871260-59871271 chr17:59868340-59868353 chr17:59871258-59871271 chr17:59871258-59871271
22	CEBPB	chr17:59910963-59911278	Hela-S3	cervix:	n/a	n/a
23	CEBPB	chr17:59887662-59887709	H1-hESC	embryonic stem cell:	n/a	chr17:59887671-59887688 chr17:59887673-59887684 chr17:59887672-59887685
24	CEBPB	chr17:59887415-59887877	ECC-1	luminal epithelium:	n/a	chr17:59887671-59887688 chr17:59887673-59887684 chr17:59887672-59887685
25	CEBPB	chr17:59887243-59887914	ECC-1	luminal epithelium:	n/a	chr17:59887671-59887688 chr17:59887673-59887684 chr17:59887672-59887685
26	CEBPB	chr17:59887414-59887886	HCT-116	colon:	n/a	chr17:59887671-59887688 chr17:59887673-59887684 chr17:59887672-59887685
27	CEBPB	chr17:59887091-59887874	K562	blood:	n/a	chr17:59887671-59887688 chr17:59887673-59887684 chr17:59887672-59887685
28	CEBPB	chr17:59887431-59887885	K562	blood:	n/a	chr17:59887671-59887688 chr17:59887673-59887684 chr17:59887672-59887685
29	CEBPB	chr17:59884175-59889134	MCF-7	breast:	n/a	chr17:59887671-59887688 chr17:59886328-59886341 chr17:59887673-59887684 chr17:59887672-59887685 chr17:59884651-59884662
30	CEBPB	chr17:59887068-59887960	MCF-7	breast:	n/a	chr17:59887671-59887688 chr17:59887673-59887684 chr17:59887672-59887685
31	CEBPB	chr17:59887494-59887853	HepG2	liver:	n/a	chr17:59887671-59887688 chr17:59887673-59887684 chr17:59887672-59887685
32	CEBPB	chr17:59887485-59887739	K562	blood:	n/a	chr17:59887671-59887688 chr17:59887673-59887684 chr17:59887672-59887685
33	CEBPD	chr17:59887511-59887889	K562	blood:	n/a	chr17:59887672-59887683
34	CTCF	chr17:59914661-59914877	HepG2	liver:	n/a	chr17:59914769-59914785 chr17:59914768-59914786
35	CTCF	chr17:59914700-59914850	GM12868	blood:	n/a	chr17:59914769-59914785 chr17:59914768-59914786
36	CTCF	chr17:59914700-59914850	HRE	kidney:	n/a	chr17:59914769-59914785 chr17:59914768-59914786
37	CTCF	chr17:59914660-59914810	HEEpiC	esophagus:	n/a	chr17:59914769-59914785 chr17:59914768-59914786
38	CTCF	chr17:59914612-59914862	HepG2	liver:	n/a	chr17:59914769-59914785 chr17:59914768-59914786
39	CTCF	chr17:59914643-59914924	Spleen_OC	spleen:	n/a	chr17:59914769-59914785 chr17:59914768-59914786
40	CTCF	chr17:59914720-59914870	AG09309	skin:	n/a	chr17:59914769-59914785 chr17:59914768-59914786
41	CTCF	chr17:59914720-59914870	HMF	breast:	n/a	chr17:59914769-59914785 chr17:59914768-59914786
42	CTCF	chr17:59914680-59914830	GM12874	blood:	n/a	chr17:59914769-59914785 chr17:59914768-59914786
43	CTCF	chr17:59914680-59914830	WI-38	lung:	n/a	chr17:59914769-59914785 chr17:59914768-59914786
44	CTCF	chr17:59914503-59914953	HepG2	liver:	n/a	chr17:59914769-59914785 chr17:59914768-59914786
45	CTCF	chr17:59914661-59914883	MCF-7	breast:	n/a	chr17:59914769-59914785 chr17:59914768-59914786
46	CTCF	chr17:59914689-59914866	Kidney_OC	kidney:	n/a	chr17:59914769-59914785 chr17:59914768-59914786
47	CTCF	chr17:59914700-59914850	A549	lung:	n/a	chr17:59914769-59914785 chr17:59914768-59914786
48	CTCF	chr17:59914654-59914887	NHEK	skin:	n/a	chr17:59914769-59914785 chr17:59914768-59914786
49	CTCF	chr17:59914680-59914830	GM12867	blood:	n/a	chr17:59914769-59914785 chr17:59914768-59914786
50	CTCF	chr17:59914680-59914876	MCF-7	breast:	n/a	chr17:59914769-59914785 chr17:59914768-59914786

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:59911755-59911805	HCPEpiC	choroid plexus:	n/a
2	chr17:59911755-59911805	T-47D	breast:	n/a
3	chr17:59911755-59911805	ProgFib	skin:	n/a
4	chr17:59911755-59911805	HCM	heart:	n/a
5	chr17:59911755-59911805	HEK293	kidney:	embryo
6	chr17:59911755-59911805	RPTEC	kidney:	n/a
7	chr17:59911755-59911805	SKMC	muscle:	n/a
8	chr17:59911755-59911805	HRCEpiC	kidney:	n/a
9	chr17:59911755-59911805	NH-A	brain:	n/a
10	chr17:59911755-59911805	HMEC	breast:	n/a
11	chr17:59911755-59911805	ovcar-3	ovarian:	n/a
12	chr17:59911755-59911805	ECC-1	luminal epithelium:	n/a
13	chr17:59911755-59911805	BE2_C	brain:	n/a
14	chr17:59911755-59911805	NHDF-neo	bronchial:	n/a
15	chr17:59911755-59911805	HCT-116	colon:	n/a
16	chr17:59911755-59911805	CMK	blood:	n/a
17	chr17:59911755-59911805	MCF-7	breast:	n/a
18	chr17:59911755-59911805	Caco-2	colon:	n/a
19	chr17:59911755-59911805	IMR90	lung:	fetal
20	chr17:59911755-59911805	HIPEpiC	eye:	n/a
21	chr17:59911755-59911805	NB4	blood:	n/a
22	chr17:59911755-59911805	AG10803	skin:	n/a
23	chr17:59911755-59911805	HRPEpiC	eye:	n/a
24	chr17:59911755-59911805	SK-N-MC	brain:	n/a
25	chr17:59911755-59911805	GM12878	blood:	n/a
26	chr17:59911755-59911805	HRE	kidney:	n/a
27	chr17:59911755-59911805	K562	blood:	n/a
28	chr17:59911755-59911805	SK-N-SH_RA	brain:	n/a
29	chr17:59911755-59911805	HPAEpiC	pulmonary alveolar:	n/a
30	chr17:59911755-59911805	PrEC	prostate:	n/a
31	chr17:59911755-59911805	GM19239	blood:	n/a
32	chr17:59911755-59911805	AG09309	skin:	n/a
33	chr17:59911755-59911805	U87	brain:	n/a
34	chr17:59911755-59911805	GM12891	blood:	n/a
35	chr17:59911755-59911805	Hepatocyte	liver:	n/a
36	chr17:59911755-59911805	Hela-S3	cervix:	n/a
37	chr17:59911755-59911805	HEEpiC	esophagus:	n/a
38	chr17:59911755-59911805	AG04449	skin:	fetal
39	chr17:59911755-59911805	GM12892	blood:	n/a
40	chr17:59911755-59911805	AoSMC	blood vessel:	n/a
41	chr17:59911755-59911805	AG09319	gingival:	n/a
42	chr17:59911755-59911805	AG04450	lung:	fetal
43	chr17:59911755-59911805	Jurkat	blood:	n/a
44	chr17:59911755-59911805	SK-N-SH	brain:	n/a
45	chr17:59911755-59911805	HAEpiC	amniotic membrane:	n/a
46	chr17:59911755-59911805	MCF10A-Er-Src	breast:	n/a
47	chr17:59911755-59911805	A549	lung:	n/a
48	chr17:59911755-59911805	PANC-1	pancreas:	n/a
49	chr17:59911755-59911805	HCF	heart:	n/a
50	chr17:59911755-59911805	BJ	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:59920166..59922154-chr17:59940484..59942880,3	K562	blood:
2	chr17:57915238..57918105-chr17:59890802..59892830,2	MCF-7	breast:
3	chr17:59887291..59887834-chr4:30717716..30718321,2	MCF-7	breast:
4	chr17:59764767..59767595-chr17:59891834..59893836,2	MCF-7	breast:
5	chr17:59875243..59877912-chr17:59882843..59885260,2	K562	blood:
6	chr17:59878944..59880921-chr17:59881668..59883370,2	K562	blood:
7	chr17:59806311..59807162-chr17:59914308..59914815,2	MCF-7	breast:
8	chr17:59889894..59892041-chr2:101925111..101926799,2	MCF-7	breast:
9	chr17:59800856..59804163-chr17:59876065..59879949,4	MCF-7	breast:
10	chr17:59606709..59608528-chr17:59876673..59878930,2	MCF-7	breast:
11	chr17:59890842..59893130-chr17:59894180..59895735,2	K562	blood:
12	chr17:59794574..59796740-chr17:59883852..59885570,2	MCF-7	breast:
13	chr17:59800153..59801027-chr17:59916762..59917391,2	MCF-7	breast:
14	chr17:59800134..59800926-chr17:59916489..59917039,2	MCF-7	breast:
15	chr17:59475570..59477970-chr17:59890311..59892461,2	MCF-7	breast:
16	chr17:59876832..59880358-chr17:59887599..59890424,3	K562	blood:
17	chr17:59800396..59801468-chr17:59877458..59878364,3	MCF-7	breast:
18	chr17:59651026..59652935-chr17:59931446..59933008,2	MCF-7	breast:
19	chr17:59717658..59720531-chr17:59908133..59910191,3	MCF-7	breast:
20	chr17:59867062..59867822-chr17:59895146..59895863,2	MCF-7	breast:
21	chr17:56734676..56736220-chr17:59919572..59922062,2	MCF-7	breast:
22	chr12:54645947..54646848-chr17:59914366..59914923,2	MCF-7	breast:
23	chr17:59932616..59934615-chr20:55850907..55852718,2	MCF-7	breast:
24	chr17:59503085..59504020-chr17:59914069..59915032,4	MCF-7	breast:
25	chr17:59889939..59890716-chr18:62012536..62013241,2	MCF-7	breast:
26	chr17:59883764..59885405-chr20:60640568..60643018,2	MCF-7	breast:
27	chr1:149222304..149225079-chr17:59912724..59914437,2	MCF-7	breast:
28	chr17:59866718..59868702-chr17:59911534..59913402,2	MCF-7	breast:
29	chr17:59725717..59727368-chr17:59919295..59921511,2	MCF-7	breast:
30	chr17:59914601..59917042-chr17:59925140..59928901,4	MCF-7	breast:
31	chr17:59833992..59836586-chr17:59910616..59913241,3	MCF-7	breast:
32	chr17:59907128..59909708-chr20:55753047..55756251,3	MCF-7	breast:
33	chr17:59922834..59925461-chr20:55688091..55690471,2	MCF-7	breast:
34	chr17:59890246..59897512-chr17:59906301..59911865,9	MCF-7	breast:
35	chr16:87425246..87426136-chr17:59924640..59925504,2	MCF-7	breast:
36	chr17:59926015..59928593-chr17:59929394..59932297,2	K562	blood:
37	chr17:59477279..59479183-chr17:59870460..59872520,2	MCF-7	breast:
38	chr17:59918294..59920479-chr17:59920903..59923192,2	MCF-7	breast:
39	chr17:59498730..59500384-chr17:59914987..59917975,2	MCF-7	breast:
40	chr17:59911641..59916436-chr20:55839275..55842881,5	MCF-7	breast:
41	chr17:59914731..59915253-chr20:52556408..52557122,2	MCF-7	breast:
42	chr12:120729403..120731557-chr17:59876926..59879782,2	MCF-7	breast:
43	chr17:59879426..59881527-chr9:131313572..131315108,2	MCF-7	breast:
44	chr17:59725720..59728552-chr17:59906098..59908318,3	MCF-7	breast:
45	chr13:23822556..23823399-chr17:59914565..59915187,2	MCF-7	breast:
46	chr17:59927825..59931202-chr17:59932161..59936802,4	K562	blood:
47	chr17:59915399..59917132-chr9:100865983..100868318,2	MCF-7	breast:
48	chr17:59914314..59915236-chr20:55683574..55684432,3	MCF-7	breast:
49	chr17:59652862..59653413-chr17:59914318..59914862,2	MCF-7	breast:
50	chr17:59706037..59708264-chr17:59889035..59891024,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TBX4-3	chr17:59927233-59927465	ucExp_420_+

Variant related genes	Relation type
BRIP1	TF binding region
BRIP1	CpG island
ENSG00000122566	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000206737	chromatin interactions
ENSG00000108510	chromatin interactions
ENSG00000062725	chromatin interactions
ENSG00000130699	chromatin interactions
ENSG00000124171	chromatin interactions
ENSG00000267131	chromatin interactions
ENSG00000037897	chromatin interactions
ENSG00000170836	chromatin interactions
ENSG00000187013	chromatin interactions
ENSG00000136492	chromatin interactions
ENSG00000108506	chromatin interactions
ENSG00000103264	chromatin interactions
ENSG00000233449	chromatin interactions
ENSG00000118482	chromatin interactions
ENSG00000259349	chromatin interactions
ENSG00000272858	chromatin interactions
ENSG00000226308	chromatin interactions
ENSG00000202361	chromatin interactions
ENSG00000257921	chromatin interactions
ENSG00000153944	chromatin interactions
ENSG00000202538	chromatin interactions
ENSG00000255438	chromatin interactions
ENSG00000203266	chromatin interactions
ENSG00000197694	chromatin interactions
ENSG00000231909	chromatin interactions
ENSG00000123427	chromatin interactions
ENSG00000171940	chromatin interactions
ENSG00000264857	chromatin interactions
ENSG00000200795	chromatin interactions
ENSG00000121068	chromatin interactions
ENSG00000083307	chromatin interactions
ENSG00000062716	chromatin interactions
ENSG00000254024	chromatin interactions
ENSG00000163638	chromatin interactions
ENSG00000108423	chromatin interactions
ENSG00000094916	chromatin interactions
ENSG00000228395	chromatin interactions
ENSG00000101144	chromatin interactions
ENSG00000155850	chromatin interactions
ENSG00000265306	chromatin interactions
ENSG00000140941	chromatin interactions
ENSG00000198890	chromatin interactions
ENSG00000139725	chromatin interactions
ENSG00000124243	chromatin interactions
ENSG00000267280	chromatin interactions
ENSG00000182481	chromatin interactions
ENSG00000144401	chromatin interactions
ENSG00000109189	chromatin interactions
ENSG00000108443	chromatin interactions
ENSG00000236352	chromatin interactions
ENSG00000163162	chromatin interactions
ENSG00000235499	chromatin interactions
ENSG00000212694	chromatin interactions

Extended variants
information (count: 2128 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:2128 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7212172	chr17:59869081-59869082	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs375563726	chr17:59869086-59869087	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs543578032	chr17:59869170-59869171	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs543137590	chr17:59869204-59869205	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs563496792	chr17:59869249-59869250	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs558095412	chr17:59869277-59869278	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs563417584	chr17:59869306-59869307	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs193235177	chr17:59869330-59869331	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs548954438	chr17:59869338-59869339	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs2378905	chr17:59869398-59869399	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs139157557	chr17:59869429-59869430	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs528782496	chr17:59869441-59869442	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs534403495	chr17:59869465-59869466	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs151181620	chr17:59869526-59869527	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs553171839	chr17:59869547-59869548	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs571763071	chr17:59869564-59869565	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs537630598	chr17:59869576-59869577	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs540334375	chr17:59869586-59869587	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs140545663	chr17:59869587-59869588	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs569759674	chr17:59869598-59869599	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs535491170	chr17:59869602-59869603	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs574541500	chr17:59869668-59869669	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs184486188	chr17:59869681-59869682	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs371241023	chr17:59869805-59869806	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs188933553	chr17:59869836-59869837	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs541959834	chr17:59869870-59869871	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs558007629	chr17:59869883-59869884	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs577787089	chr17:59869912-59869913	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs181379451	chr17:59869930-59869931	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs563583153	chr17:59870017-59870018	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs111629030	chr17:59870026-59870027	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs75643416	chr17:59870034-59870035	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs573791575	chr17:59870108-59870109	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs542664089	chr17:59870145-59870146	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs184026433	chr17:59870162-59870163	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs528451761	chr17:59870233-59870234	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs543857115	chr17:59870249-59870250	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs551808136	chr17:59870291-59870292	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs565557431	chr17:59870310-59870311	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs531051337	chr17:59870511-59870512	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs189712909	chr17:59870512-59870513	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs34138656	chr17:59870514-59870515	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs367977039	chr17:59870560-59870561	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs565260523	chr17:59870583-59870584	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs1468577	chr17:59870617-59870618	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs549062455	chr17:59870809-59870810	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs111842788	chr17:59870816-59870817	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs534586629	chr17:59870833-59870834	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs185997519	chr17:59870835-59870836	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs577861423	chr17:59870836-59870837	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:118)

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
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	20953835	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
Acute myeloid leukemia	21251322	CNVD
Ewing''s sarcoma	22429812	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21467264	CNVD
Ovarian neoplasms	16753589	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Malignant melanoma	17260012	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21858162	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
XY sex reversal	17503084	CNVD
Sensorineural hearing loss	22052739	CNVD
intellectual deficit	22052739	CNVD
no characteristic dysmorphism	22052739	CNVD
speech delay	22052739	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17899364	CNVD
Multiple myeloma	16616336	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16620391	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21611746	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Williams-Beuren syndrome	16971481	CNVD
Breast cancer	21958427	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
Cancer	21129771	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:883 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:59816800-59887800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr17:59820400-59877200	Weak transcription	NH-A	brain
3	chr17:59825800-59898400	Weak transcription	Thymus	Thymus
4	chr17:59844000-59882600	Weak transcription	NHLF	lung
5	chr17:59844600-59882600	Weak transcription	HMEC	breast
6	chr17:59847600-59883400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr17:59847800-59876200	Weak transcription	Osteobl	bone
8	chr17:59848400-59873600	Weak transcription	K562	blood
9	chr17:59848600-59874000	Weak transcription	Hela-S3	cervix
10	chr17:59848600-59875600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr17:59848800-59872600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr17:59848800-59882600	Weak transcription	NHEK	skin
13	chr17:59848800-59911200	Weak transcription	HUVEC	blood vessel
14	chr17:59849000-59869400	Weak transcription	HepG2	liver
15	chr17:59849400-59871600	Weak transcription	HSMM	muscle
16	chr17:59849400-59872200	Weak transcription	Fetal Thymus	thymus
17	chr17:59849400-59887200	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr17:59849800-59887200	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr17:59850000-59869400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr17:59850000-59870800	Weak transcription	Primary hematopoietic stem cells	blood
21	chr17:59850000-59871000	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr17:59850000-59872200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr17:59850000-59873200	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr17:59850000-59887000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr17:59850000-59887000	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr17:59851200-59902600	Weak transcription	Fetal Stomach	stomach
27	chr17:59852600-59869400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr17:59852600-59898000	Weak transcription	Fetal Intestine Small	intestine
29	chr17:59853800-59869400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr17:59854000-59873000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr17:59856400-59872800	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr17:59857000-59888600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr17:59858000-59872800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr17:59858200-59869400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr17:59860200-59883200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr17:59862000-59869200	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr17:59862000-59887200	Weak transcription	Fetal Kidney	kidney
38	chr17:59863200-59869800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr17:59863600-59925000	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr17:59863800-59876200	Weak transcription	GM12878-XiMat	blood
41	chr17:59864000-59871200	Weak transcription	Primary B cells from cord blood	blood
42	chr17:59865400-59873800	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr17:59866000-59880800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr17:59866000-59883200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr17:59866200-59869800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr17:59866400-59883400	Weak transcription	Fetal Lung	lung
47	chr17:59866600-59869200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr17:59867200-59881400	Strong transcription	Dnd41	blood
49	chr17:59867400-59875000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr17:59868000-59870000	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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