Variant report

Variant	nsv575842
Chromosome Location	chr17:59812748-59927307
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1148)
CpG islands
(count:122)
Chromatin interactive
region (count:410)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1148 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr17:59914612-59915117	K562	blood:	n/a	chr17:59914621-59914637
2	ARID3A	chr17:59914633-59915019	HepG2	liver:	n/a	n/a
3	ATF1	chr17:59873066-59873082	K562	blood:	n/a	n/a
4	ATF1	chr17:59867383-59867517	K562	blood:	n/a	n/a
5	ATF1	chr17:59887540-59887852	K562	blood:	n/a	n/a
6	ATF2	chr17:59861070-59862129	GM12878	blood:	n/a	n/a
7	ATF2	chr17:59861240-59861622	GM12878	blood:	n/a	n/a
8	ATF2	chr17:59827856-59828468	GM12878	blood:	n/a	n/a
9	ATF3	chr17:59911002-59911228	K562	blood:	n/a	n/a
10	BATF	chr17:59899793-59900416	GM12878	blood:	n/a	n/a
11	BATF	chr17:59861233-59861566	GM12878	blood:	n/a	n/a
12	BATF	chr17:59834573-59834843	GM12878	blood:	n/a	chr17:59834655-59834665
13	BATF	chr17:59899782-59900304	GM12878	blood:	n/a	n/a
14	BATF	chr17:59827895-59828361	GM12878	blood:	n/a	n/a
15	BATF	chr17:59843077-59843329	GM12878	blood:	n/a	chr17:59843174-59843183
16	BATF	chr17:59877431-59877718	GM12878	blood:	n/a	n/a
17	BATF	chr17:59827901-59828382	GM12878	blood:	n/a	n/a
18	BCL11A	chr17:59861148-59861504	GM12878	blood:	n/a	n/a
19	BCL11A	chr17:59828008-59828279	GM12878	blood:	n/a	n/a
20	BCL11A	chr17:59828024-59828380	GM12878	blood:	n/a	n/a
21	BCL3	chr17:59828031-59828261	GM12878	blood:	n/a	n/a
22	BCLAF1	chr17:59861041-59862233	GM12878	blood:	n/a	n/a
23	BCLAF1	chr17:59827934-59828377	GM12878	blood:	n/a	n/a
24	BCLAF1	chr17:59827883-59828430	GM12878	blood:	n/a	n/a
25	BHLHE40	chr17:59827961-59828395	GM12878	blood:	n/a	n/a
26	BRCA1	chr17:59910967-59911277	Hela-S3	cervix:	n/a	n/a
27	CBX3	chr17:59910832-59911403	HCT-116	colon:	n/a	n/a
28	CBX3	chr17:59848163-59848438	K562	blood:	n/a	n/a
29	CBX3	chr17:59848109-59848599	HCT-116	colon:	n/a	n/a
30	CBX3	chr17:59848168-59848463	K562	blood:	n/a	n/a
31	CBX3	chr17:59839163-59839535	HCT-116	colon:	n/a	n/a
32	CBX3	chr17:59848093-59848610	HCT-116	colon:	n/a	n/a
33	CEBPB	chr17:59851758-59857964	MCF-7	breast:	n/a	chr17:59852026-59852039 chr17:59852027-59852038 chr17:59852028-59852037 chr17:59852028-59852037 chr17:59852026-59852039 chr17:59852028-59852037 chr17:59852884-59852897
34	CEBPB	chr17:59848519-59848920	IMR90	lung:	n/a	n/a
35	CEBPB	chr17:59887068-59887960	MCF-7	breast:	n/a	chr17:59887671-59887688 chr17:59887673-59887684 chr17:59887672-59887685
36	CEBPB	chr17:59851857-59852209	HepG2	liver:	n/a	chr17:59852026-59852039 chr17:59852027-59852038 chr17:59852028-59852037 chr17:59852028-59852037 chr17:59852026-59852039 chr17:59852028-59852037
37	CEBPB	chr17:59821653-59821989	H1-hESC	embryonic stem cell:	n/a	chr17:59821811-59821822
38	CEBPB	chr17:59861291-59861394	HepG2	liver:	n/a	n/a
39	CEBPB	chr17:59867828-59872635	MCF-7	breast:	n/a	chr17:59871260-59871271 chr17:59871260-59871271 chr17:59868340-59868353 chr17:59871258-59871271 chr17:59871258-59871271
40	CEBPB	chr17:59887414-59887886	HCT-116	colon:	n/a	chr17:59887671-59887688 chr17:59887673-59887684 chr17:59887672-59887685
41	CEBPB	chr17:59821635-59822005	HepG2	liver:	n/a	chr17:59821811-59821822
42	CEBPB	chr17:59859730-59863951	MCF-7	breast:	n/a	n/a
43	CEBPB	chr17:59821643-59822004	A549	lung:	n/a	chr17:59821811-59821822
44	CEBPB	chr17:59821638-59822000	IMR90	lung:	n/a	chr17:59821811-59821822
45	CEBPB	chr17:59821625-59822003	K562	blood:	n/a	chr17:59821811-59821822
46	CEBPB	chr17:59884572-59884745	IMR90	lung:	n/a	chr17:59884651-59884662
47	CEBPB	chr17:59806531-59825204	MCF-7	breast:	n/a	chr17:59815059-59815076 chr17:59821811-59821822 chr17:59811124-59811136 chr17:59817883-59817895 chr17:59811143-59811155 chr17:59815062-59815074
48	CEBPB	chr17:59887096-59887870	IMR90	lung:	n/a	chr17:59887671-59887688 chr17:59887673-59887684 chr17:59887672-59887685
49	CEBPB	chr17:59842865-59849532	MCF-7	breast:	n/a	n/a
50	CEBPB	chr17:59884175-59889134	MCF-7	breast:	n/a	chr17:59887671-59887688 chr17:59886328-59886341 chr17:59887673-59887684 chr17:59887672-59887685 chr17:59884651-59884662

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:59846164-59846214	H1-hESC	embryonic stem cell:	embryo
2	chr17:59911755-59911805	HNPCEpiC	eye:	n/a
3	chr17:59911755-59911805	AG04449	skin:	fetal
4	chr17:59846164-59846214	AG09309	skin:	n/a
5	chr17:59911755-59911805	ovcar-3	ovarian:	n/a
6	chr17:59846164-59846214	HMEC	breast:	n/a
7	chr17:59911755-59911805	HUVEC	blood vessel:	n/a
8	chr17:59846164-59846214	HIPEpiC	eye:	n/a
9	chr17:59846164-59846214	RPTEC	kidney:	n/a
10	chr17:59846164-59846214	NH-A	brain:	n/a
11	chr17:59846164-59846214	CMK	blood:	n/a
12	chr17:59911755-59911805	ECC-1	luminal epithelium:	n/a
13	chr17:59846164-59846214	HAEpiC	amniotic membrane:	n/a
14	chr17:59846164-59846214	Caco-2	colon:	n/a
15	chr17:59846164-59846214	HUVEC	blood vessel:	n/a
16	chr17:59911755-59911805	Hela-S3	cervix:	n/a
17	chr17:59911755-59911805	AG04450	lung:	fetal
18	chr17:59846164-59846214	IMR90	lung:	fetal
19	chr17:59911755-59911805	NHBE	bronchial:	n/a
20	chr17:59911755-59911805	AoSMC	blood vessel:	n/a
21	chr17:59846164-59846214	GM06990	blood:	n/a
22	chr17:59911755-59911805	SK-N-SH	brain:	n/a
23	chr17:59911755-59911805	MCF-7	breast:	n/a
24	chr17:59911755-59911805	PANC-1	pancreas:	n/a
25	chr17:59846164-59846214	ECC-1	luminal epithelium:	n/a
26	chr17:59846164-59846214	LNCaP	prostate:	n/a
27	chr17:59911755-59911805	HPAEpiC	pulmonary alveolar:	n/a
28	chr17:59846164-59846214	AG10803	skin:	n/a
29	chr17:59846164-59846214	U87	brain:	n/a
30	chr17:59846164-59846214	HL-60	blood:	n/a
31	chr17:59846164-59846214	PFSK-1	brain:	n/a
32	chr17:59846164-59846214	SAEC	small airway:	n/a
33	chr17:59846164-59846214	SK-N-SH_RA	brain:	n/a
34	chr17:59911755-59911805	HCPEpiC	choroid plexus:	n/a
35	chr17:59911755-59911805	HRCEpiC	kidney:	n/a
36	chr17:59911755-59911805	HAEpiC	amniotic membrane:	n/a
37	chr17:59846164-59846214	T-47D	breast:	n/a
38	chr17:59846164-59846214	HNPCEpiC	eye:	n/a
39	chr17:59911755-59911805	HMEC	breast:	n/a
40	chr17:59846164-59846214	GM19239	blood:	n/a
41	chr17:59911755-59911805	GM12892	blood:	n/a
42	chr17:59911755-59911805	MCF10A-Er-Src	breast:	n/a
43	chr17:59911755-59911805	SK-N-MC	brain:	n/a
44	chr17:59846164-59846214	A549	lung:	n/a
45	chr17:59846164-59846214	HepG2	liver:	n/a
46	chr17:59911755-59911805	CMK	blood:	n/a
47	chr17:59911755-59911805	GM06990	blood:	n/a
48	chr17:59911755-59911805	BJ	skin:	n/a
49	chr17:59911755-59911805	HIPEpiC	eye:	n/a
50	chr17:59911755-59911805	RPTEC	kidney:	n/a

(count:410 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Distal block	Cell Line	Cell type
1	chr17:59876221..59877900-chr17:59899505..59902130,2	K562	blood:
2	chr17:59713400..59713966-chr17:59822196..59823037,2	MCF-7	breast:
3	chr16:87425246..87426136-chr17:59924640..59925504,2	MCF-7	breast:
4	chr17:59628671..59629262-chr17:59914368..59915199,2	MCF-7	breast:
5	chr17:59926015..59928593-chr17:59929394..59932297,2	K562	blood:
6	chr17:59833992..59836586-chr17:59910616..59913241,3	MCF-7	breast:
7	chr17:59652578..59654171-chr17:59913004..59915141,2	MCF-7	breast:
8	chr17:59815384..59817910-chr9:127616869..127619165,2	MCF-7	breast:
9	chr11:38164526..38166046-chr17:59858749..59860311,2	MCF-7	breast:
10	chr17:58758381..58760756-chr17:59924368..59926184,2	MCF-7	breast:
11	chr17:59907737..59910025-chr20:55839076..55841532,2	MCF-7	breast:
12	chr17:59722327..59722830-chr17:59891396..59892068,2	MCF-7	breast:
13	chr17:59876832..59880358-chr17:59887599..59890424,3	K562	blood:
14	chr17:59910605..59912694-chr20:55836823..55839521,3	MCF-7	breast:
15	chr17:59853761..59854400-chr17:59866223..59867007,2	MCF-7	breast:
16	chr17:59488207..59489907-chr17:59897197..59900125,2	MCF-7	breast:
17	chr17:59833992..59836586-chr17:59910616..59913241,3	MCF-7	breast:
18	chr17:59833854..59836215-chr19:13952336..13954690,2	MCF-7	breast:
19	chr17:59890049..59891797-chr3:75078865..75080866,2	MCF-7	breast:
20	chr17:59754587..59756738-chr17:59917430..59920080,2	MCF-7	breast:
21	chr17:59914698..59915249-chr20:55840369..55840972,2	MCF-7	breast:
22	chr17:59833498..59835851-chr17:59861068..59863022,2	MCF-7	breast:
23	chr17:59711578..59716020-chr17:59910074..59916640,13	MCF-7	breast:
24	chr17:59850239..59851867-chr17:59853660..59855165,2	K562	blood:
25	chr17:59890842..59893130-chr17:59894180..59895735,2	K562	blood:
26	chr1:108740610..108742297-chr17:59904544..59907278,2	MCF-7	breast:
27	chr17:59764767..59767595-chr17:59891834..59893836,2	MCF-7	breast:
28	chr17:59476759..59479299-chr17:59911039..59913181,3	MCF-7	breast:
29	chr17:59864218..59867206-chr17:59938344..59939974,2	MCF-7	breast:
30	chr17:59716212..59718286-chr17:59910672..59913286,2	MCF-7	breast:
31	chr17:59885614..59888550-chr20:55780015..55782041,2	MCF-7	breast:
32	chr17:59853507..59854351-chr17:59914333..59914895,2	MCF-7	breast:
33	chr17:59900956..59905139-chr17:59907699..59912131,8	MCF-7	breast:
34	chr17:57082138..57082691-chr17:59914670..59915216,2	MCF-7	breast:
35	chr17:59890439..59893207-chr6:64345789..64347919,2	MCF-7	breast:
36	chr17:59893631..59896024-chr17:59912153..59913818,2	MCF-7	breast:
37	chr17:59757651..59759425-chr17:59822569..59825415,2	MCF-7	breast:
38	chr17:59713086..59713590-chr17:59910576..59911190,2	MCF-7	breast:
39	chr17:59867134..59868670-chr20:52610022..52612203,2	MCF-7	breast:
40	chr17:59777669..59780570-chr17:59890560..59893186,2	MCF-7	breast:
41	chr17:59758478..59761254-chr17:59816609..59819220,2	MCF-7	breast:
42	chr17:59913094..59914791-chr20:60639929..60642235,2	MCF-7	breast:
43	chr17:59913859..59915810-chr17:60183399..60185979,2	MCF-7	breast:
44	chr17:59893631..59896024-chr17:59912153..59913818,2	MCF-7	breast:
45	chr17:59823092..59824052-chr7:130478731..130479440,2	MCF-7	breast:
46	chr17:59832362..59834928-chr20:52366114..52368255,2	MCF-7	breast:
47	chr17:59488409..59490709-chr17:59860099..59861643,2	MCF-7	breast:
48	chr13:23822556..23823399-chr17:59914565..59915187,2	MCF-7	breast:
49	chr17:59897032..59900869-chr17:59902920..59905973,5	MCF-7	breast:
50	chr17:59920538..59922154-chr17:59941018..59942880,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TBX4-2	chr17:59838949-59839162	expReg_chr17_10353_+
2	lnc-TBX4-3	chr17:59927233-59927465	ucExp_420_+

No data

Variant related genes	Relation type
BRIP1	TF binding region
BRIP1	CpG island
ENSG00000267131	chromatin interactions
ENSG00000226308	chromatin interactions
ENSG00000236352	chromatin interactions
ENSG00000164924	chromatin interactions
ENSG00000037897	chromatin interactions
ENSG00000202361	chromatin interactions
ENSG00000243069	chromatin interactions
ENSG00000182173	chromatin interactions
ENSG00000199004	chromatin interactions
ENSG00000203266	chromatin interactions
ENSG00000254024	chromatin interactions
ENSG00000108510	chromatin interactions
ENSG00000083307	chromatin interactions
ENSG00000094916	chromatin interactions
ENSG00000235499	chromatin interactions
ENSG00000121068	chromatin interactions
ENSG00000101144	chromatin interactions
ENSG00000198890	chromatin interactions
ENSG00000108423	chromatin interactions
ENSG00000122566	chromatin interactions
ENSG00000163636	chromatin interactions
ENSG00000267280	chromatin interactions
ENSG00000130699	chromatin interactions
ENSG00000264857	chromatin interactions
ENSG00000062725	chromatin interactions
ENSG00000155850	chromatin interactions
ENSG00000140941	chromatin interactions
ENSG00000197694	chromatin interactions
ENSG00000115137	chromatin interactions
ENSG00000123427	chromatin interactions
ENSG00000185650	chromatin interactions
ENSG00000114790	chromatin interactions
ENSG00000231909	chromatin interactions
ENSG00000136492	chromatin interactions
ENSG00000118482	chromatin interactions
ENSG00000265306	chromatin interactions
ENSG00000124151	chromatin interactions
ENSG00000228395	chromatin interactions
ENSG00000124243	chromatin interactions
ENSG00000233449	chromatin interactions
ENSG00000062716	chromatin interactions
ENSG00000163638	chromatin interactions
ENSG00000202538	chromatin interactions
ENSG00000108443	chromatin interactions
ENSG00000170836	chromatin interactions
ENSG00000255438	chromatin interactions
ENSG00000200795	chromatin interactions
ENSG00000146242	chromatin interactions
ENSG00000224165	chromatin interactions
ENSG00000001629	chromatin interactions
ENSG00000109189	chromatin interactions
ENSG00000272858	chromatin interactions
ENSG00000131788	chromatin interactions
ENSG00000184009	chromatin interactions
ENSG00000001631	chromatin interactions
ENSG00000206737	chromatin interactions
ENSG00000229947	chromatin interactions
ENSG00000121075	chromatin interactions
ENSG00000187013	chromatin interactions
ENSG00000108506	chromatin interactions
ENSG00000259349	chromatin interactions
ENSG00000153815	chromatin interactions
ENSG00000153944	chromatin interactions
ENSG00000163162	chromatin interactions
ENSG00000124171	chromatin interactions
ENSG00000257921	chromatin interactions
ENSG00000171940	chromatin interactions
ENSG00000103264	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000106211	chromatin interactions

Extended variants
information (count: 3542 )
Associated
traits (count: 117 )

Variant overlapped rSNPs/rCNVs (count:3542 , 50 per page) page: 1 2 3 4 5 6 7 ... 71

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2159451	chr17:59812748-59812749	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs567636698	chr17:59812751-59812752	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs527750325	chr17:59812788-59812789	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs547506734	chr17:59812796-59812797	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs570805757	chr17:59812797-59812798	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs540184830	chr17:59812867-59812868	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs188521577	chr17:59812877-59812878	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs537995519	chr17:59812878-59812879	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs373031361	chr17:59812919-59812920	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs556616565	chr17:59812984-59812985	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs562756405	chr17:59812996-59812997	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs73328552	chr17:59813000-59813001	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs80189263	chr17:59813001-59813002	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs574465444	chr17:59813003-59813004	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs540299856	chr17:59813016-59813017	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs553532968	chr17:59813051-59813052	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs576420730	chr17:59813087-59813088	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs180932428	chr17:59813089-59813090	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs375799773	chr17:59813123-59813124	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs562443721	chr17:59813150-59813151	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs111912993	chr17:59813169-59813170	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs531471276	chr17:59813171-59813172	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs111364178	chr17:59813172-59813173	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs4968447	chr17:59813173-59813174	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs545436492	chr17:59813200-59813201	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs183689472	chr17:59813229-59813230	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs149938205	chr17:59813234-59813235	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs547868272	chr17:59813301-59813302	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs76294039	chr17:59813420-59813421	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs373289090	chr17:59813422-59813423	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs190755303	chr17:59813474-59813475	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs550152724	chr17:59813496-59813497	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs572801190	chr17:59813499-59813500	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs536113408	chr17:59813515-59813516	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs62068812	chr17:59813522-59813523	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs77277013	chr17:59813524-59813525	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs144126186	chr17:59813610-59813611	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs139979792	chr17:59813646-59813647	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs566259307	chr17:59813668-59813669	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs565561271	chr17:59813692-59813693	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs533689954	chr17:59813779-59813780	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs532728232	chr17:59813790-59813791	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs576483375	chr17:59813817-59813818	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs545413778	chr17:59813913-59813914	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs555703245	chr17:59813926-59813927	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs575963806	chr17:59814052-59814053	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs182046029	chr17:59814118-59814119	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs376459823	chr17:59814126-59814127	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs368782971	chr17:59814132-59814133	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs561783104	chr17:59814154-59814155	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:117)

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

Chromatin state (count:1445 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:59766000-59819000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr17:59781600-59835400	Weak transcription	Hela-S3	cervix
3	chr17:59784400-59815200	Weak transcription	HMEC	breast
4	chr17:59786600-59815400	Weak transcription	Fetal Thymus	thymus
5	chr17:59792000-59815200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr17:59793200-59819400	Weak transcription	NH-A	brain
7	chr17:59793600-59821200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr17:59794200-59815200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr17:59794200-59819600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr17:59794400-59815200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr17:59794400-59816200	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr17:59794400-59848200	Weak transcription	HUVEC	blood vessel
13	chr17:59794800-59815200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr17:59796200-59814400	Weak transcription	Primary hematopoietic stem cells	blood
15	chr17:59797400-59817600	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr17:59797600-59813000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr17:59798400-59815000	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr17:59798800-59816400	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr17:59800800-59814400	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr17:59801000-59815400	Weak transcription	HepG2	liver
21	chr17:59801200-59817400	Weak transcription	Small Intestine	intestine
22	chr17:59801600-59815000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr17:59801600-59816200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr17:59804200-59814400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr17:59804200-59818800	Weak transcription	Brain Germinal Matrix	brain
26	chr17:59804200-59847400	Weak transcription	K562	blood
27	chr17:59804600-59834200	Weak transcription	Osteobl	bone
28	chr17:59805800-59815200	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr17:59805800-59818800	Weak transcription	Fetal Muscle Leg	muscle
30	chr17:59806200-59815200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr17:59806200-59825600	Weak transcription	Thymus	Thymus
32	chr17:59806400-59814200	Weak transcription	A549	lung
33	chr17:59806800-59819800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr17:59807400-59814600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr17:59807600-59813000	Weak transcription	Dnd41	blood
36	chr17:59807600-59813200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr17:59807600-59813800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr17:59807600-59815200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr17:59807600-59838400	Weak transcription	Fetal Stomach	stomach
40	chr17:59808000-59814400	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr17:59809200-59815200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr17:59809800-59814400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr17:59811200-59815400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr17:59811600-59825200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr17:59813000-59813600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr17:59813000-59814200	Strong transcription	Dnd41	blood
47	chr17:59813200-59813600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr17:59813200-59815200	Weak transcription	Duodenum Mucosa	Duodenum
49	chr17:59813600-59814400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr17:59813600-59815200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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