Variant report

Variant	nsv908674
Chromosome Location	chr17:59800827-59899790
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:881)
CpG islands
(count:62)
Chromatin interactive
region (count:351)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:881 , 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	ATF1	chr17:59801547-59801564	K562	blood:	n/a	n/a
2	ATF1	chr17:59887540-59887852	K562	blood:	n/a	n/a
3	ATF1	chr17:59867383-59867517	K562	blood:	n/a	n/a
4	ATF1	chr17:59873066-59873082	K562	blood:	n/a	n/a
5	ATF2	chr17:59861070-59862129	GM12878	blood:	n/a	n/a
6	ATF2	chr17:59861240-59861622	GM12878	blood:	n/a	n/a
7	ATF2	chr17:59827856-59828468	GM12878	blood:	n/a	n/a
8	BATF	chr17:59877431-59877718	GM12878	blood:	n/a	n/a
9	BATF	chr17:59827895-59828361	GM12878	blood:	n/a	n/a
10	BATF	chr17:59827901-59828382	GM12878	blood:	n/a	n/a
11	BATF	chr17:59834573-59834843	GM12878	blood:	n/a	chr17:59834655-59834665
12	BATF	chr17:59899782-59900304	GM12878	blood:	n/a	n/a
13	BATF	chr17:59843077-59843329	GM12878	blood:	n/a	chr17:59843174-59843183
14	BATF	chr17:59861233-59861566	GM12878	blood:	n/a	n/a
15	BCL11A	chr17:59861148-59861504	GM12878	blood:	n/a	n/a
16	BCL11A	chr17:59828024-59828380	GM12878	blood:	n/a	n/a
17	BCL11A	chr17:59828008-59828279	GM12878	blood:	n/a	n/a
18	BCL3	chr17:59828031-59828261	GM12878	blood:	n/a	n/a
19	BCLAF1	chr17:59827934-59828377	GM12878	blood:	n/a	n/a
20	BCLAF1	chr17:59861041-59862233	GM12878	blood:	n/a	n/a
21	BCLAF1	chr17:59827883-59828430	GM12878	blood:	n/a	n/a
22	BHLHE40	chr17:59827961-59828395	GM12878	blood:	n/a	n/a
23	CBX3	chr17:59848109-59848599	HCT-116	colon:	n/a	n/a
24	CBX3	chr17:59848093-59848610	HCT-116	colon:	n/a	n/a
25	CBX3	chr17:59848163-59848438	K562	blood:	n/a	n/a
26	CBX3	chr17:59839163-59839535	HCT-116	colon:	n/a	n/a
27	CBX3	chr17:59848168-59848463	K562	blood:	n/a	n/a
28	CEBPB	chr17:59887401-59887934	A549	lung:	n/a	chr17:59887671-59887688 chr17:59887673-59887684 chr17:59887672-59887685
29	CEBPB	chr17:59861047-59861763	GM12878	blood:	n/a	n/a
30	CEBPB	chr17:59884175-59889134	MCF-7	breast:	n/a	chr17:59887671-59887688 chr17:59886328-59886341 chr17:59887673-59887684 chr17:59887672-59887685 chr17:59884651-59884662
31	CEBPB	chr17:59821643-59822004	A549	lung:	n/a	chr17:59821811-59821822
32	CEBPB	chr17:59887096-59887870	IMR90	lung:	n/a	chr17:59887671-59887688 chr17:59887673-59887684 chr17:59887672-59887685
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	chr17:59861291-59861394	HepG2	liver:	n/a	n/a
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	chr17:59821635-59822005	HepG2	liver:	n/a	chr17:59821811-59821822
38	CEBPB	chr17:59861213-59861533	GM12878	blood:	n/a	n/a
39	CEBPB	chr17:59821625-59822003	K562	blood:	n/a	chr17:59821811-59821822
40	CEBPB	chr17:59887431-59887885	K562	blood:	n/a	chr17:59887671-59887688 chr17:59887673-59887684 chr17:59887672-59887685
41	CEBPB	chr17:59821549-59822099	A549	lung:	n/a	chr17:59821811-59821822
42	CEBPB	chr17:59887415-59887877	ECC-1	luminal epithelium:	n/a	chr17:59887671-59887688 chr17:59887673-59887684 chr17:59887672-59887685
43	CEBPB	chr17:59852013-59852093	A549	lung:	n/a	chr17:59852026-59852039 chr17:59852027-59852038 chr17:59852028-59852037 chr17:59852028-59852037 chr17:59852026-59852039 chr17:59852028-59852037
44	CEBPB	chr17:59848641-59848812	A549	lung:	n/a	n/a
45	CEBPB	chr17:59887414-59887886	HCT-116	colon:	n/a	chr17:59887671-59887688 chr17:59887673-59887684 chr17:59887672-59887685
46	CEBPB	chr17:59887499-59887855	Hela-S3	cervix:	n/a	chr17:59887671-59887688 chr17:59887673-59887684 chr17:59887672-59887685
47	CEBPB	chr17:59821638-59822000	IMR90	lung:	n/a	chr17:59821811-59821822
48	CEBPB	chr17:59803626-59803884	HepG2	liver:	n/a	n/a
49	CEBPB	chr17:59821002-59822189	MCF-7	breast:	n/a	chr17:59821811-59821822
50	CEBPB	chr17:59887091-59887874	K562	blood:	n/a	chr17:59887671-59887688 chr17:59887673-59887684 chr17:59887672-59887685

(count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:59846164-59846214	T-47D	breast:	n/a
2	chr17:59846164-59846214	T-47D	breast:	n/a
3	chr17:59846164-59846214	GM12891	blood:	n/a
4	chr17:59846164-59846214	ovcar-3	ovarian:	n/a
5	chr17:59846164-59846214	ProgFib	skin:	n/a
6	chr17:59846164-59846214	GM12878	blood:	n/a
7	chr17:59846164-59846214	AG10803	skin:	n/a
8	chr17:59846164-59846214	Caco-2	colon:	n/a
9	chr17:59846164-59846214	NHDF-neo	bronchial:	n/a
10	chr17:59846164-59846214	HRPEpiC	eye:	n/a
11	chr17:59846164-59846214	Jurkat	blood:	n/a
12	chr17:59846164-59846214	MCF10A-Er-Src	breast:	n/a
13	chr17:59846164-59846214	AG09319	gingival:	n/a
14	chr17:59846164-59846214	SKMC	muscle:	n/a
15	chr17:59846164-59846214	GM06990	blood:	n/a
16	chr17:59846164-59846214	LNCaP	prostate:	n/a
17	chr17:59846164-59846214	SK-N-SH_RA	brain:	n/a
18	chr17:59846164-59846214	H1-hESC	embryonic stem cell:	embryo
19	chr17:59846164-59846214	HAEpiC	amniotic membrane:	n/a
20	chr17:59846164-59846214	HNPCEpiC	eye:	n/a
21	chr17:59846164-59846214	HepG2	liver:	n/a
22	chr17:59846164-59846214	CMK	blood:	n/a
23	chr17:59846164-59846214	AoSMC	blood vessel:	n/a
24	chr17:59846164-59846214	NHBE	bronchial:	n/a
25	chr17:59846164-59846214	HCM	heart:	n/a
26	chr17:59846164-59846214	A549	lung:	n/a
27	chr17:59846164-59846214	HRCEpiC	kidney:	n/a
28	chr17:59846164-59846214	HCF	heart:	n/a
29	chr17:59846164-59846214	GM12892	blood:	n/a
30	chr17:59846164-59846214	IMR90	lung:	fetal
31	chr17:59846164-59846214	MCF-7	breast:	n/a
32	chr17:59846164-59846214	HMEC	breast:	n/a
33	chr17:59846164-59846214	PANC-1	pancreas:	n/a
34	chr17:59846164-59846214	PFSK-1	brain:	n/a
35	chr17:59846164-59846214	PrEC	prostate:	n/a
36	chr17:59846164-59846214	AG04449	skin:	fetal
37	chr17:59846164-59846214	SAEC	small airway:	n/a
38	chr17:59846164-59846214	HIPEpiC	eye:	n/a
39	chr17:59846164-59846214	U87	brain:	n/a
40	chr17:59846164-59846214	HL-60	blood:	n/a
41	chr17:59846164-59846214	HPAEpiC	pulmonary alveolar:	n/a
42	chr17:59846164-59846214	NH-A	brain:	n/a
43	chr17:59846164-59846214	HEEpiC	esophagus:	n/a
44	chr17:59846164-59846214	GM19239	blood:	n/a
45	chr17:59846164-59846214	SK-N-MC	brain:	n/a
46	chr17:59846164-59846214	AG04450	lung:	fetal
47	chr17:59846164-59846214	K562	blood:	n/a
48	chr17:59846164-59846214	HCT-116	colon:	n/a
49	chr17:59846164-59846214	HRE	kidney:	n/a
50	chr17:59846164-59846214	NT2-D1	testis:	n/a

(count:351 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Distal block	Cell Line	Cell type
1	chr17:59528515..59530394-chr17:59840038..59841701,2	MCF-7	breast:
2	chr17:59836843..59839054-chr2:131690423..131691942,3	MCF-7	breast:
3	chr17:59787823..59789456-chr17:59835997..59838639,2	MCF-7	breast:
4	chr17:59800446..59802720-chr17:59893670..59895500,2	MCF-7	breast:
5	chr17:59791825..59795650-chr17:59840318..59843979,3	MCF-7	breast:
6	chr17:59840156..59841060-chr2:190976276..190977242,2	MCF-7	breast:
7	chr17:59820303..59821882-chr17:59847368..59849790,2	MCF-7	breast:
8	chr17:59807637..59809834-chr17:59859526..59861845,2	MCF-7	breast:
9	chr14:33755574..33756206-chr17:59867082..59867619,2	MCF-7	breast:
10	chr17:59876462..59878052-chr6:21599536..21601804,2	MCF-7	breast:
11	chr17:59820303..59821882-chr17:59847368..59849790,2	MCF-7	breast:
12	chr17:59842148..59844198-chr2:25193933..25196485,2	MCF-7	breast:
13	chr17:59862782..59863461-chr3:64008914..64009596,2	MCF-7	breast:
14	chr17:59777669..59780570-chr17:59890560..59893186,2	MCF-7	breast:
15	chr17:59829107..59832059-chr3:64817908..64820226,3	MCF-7	breast:
16	chr17:59488256..59490600-chr17:59842943..59844571,2	MCF-7	breast:
17	chr17:59897032..59900869-chr17:59902920..59905973,5	MCF-7	breast:
18	chr17:59873099..59874876-chr8:102504427..102506310,2	MCF-7	breast:
19	chr17:59804101..59807037-chr17:59831514..59833656,2	MCF-7	breast:
20	chr17:59821897..59823805-chr17:59831272..59833855,2	MCF-7	breast:
21	chr17:59814253..59816917-chr17:59852153..59854445,2	MCF-7	breast:
22	chr17:59816511..59818515-chr17:59914833..59916346,2	MCF-7	breast:
23	chr17:59879426..59881527-chr9:131313572..131315108,2	MCF-7	breast:
24	chr17:59876221..59877900-chr17:59899505..59902130,2	K562	blood:
25	chr1:107344425..107347315-chr17:59890668..59892934,2	MCF-7	breast:
26	chr17:59485536..59487497-chr17:59877149..59880226,3	MCF-7	breast:
27	chr17:59802918..59807240-chr17:59907754..59912579,5	MCF-7	breast:
28	chr17:59810990..59813864-chr17:59880242..59882764,2	MCF-7	breast:
29	chr17:59834895..59837098-chr17:59871256..59875287,3	MCF-7	breast:
30	chr17:59887291..59887834-chr4:30717716..30718321,2	MCF-7	breast:
31	chr12:53869484..53871513-chr17:59897576..59899229,2	MCF-7	breast:
32	chr17:59804692..59806294-chr20:52740272..52742847,2	MCF-7	breast:
33	chr17:59840941..59844426-chr8:101962904..101965410,3	MCF-7	breast:
34	chr17:59788127..59788947-chr17:59800069..59800999,2	MCF-7	breast:
35	chr17:59875243..59877912-chr17:59882843..59885260,2	K562	blood:
36	chr17:59890262..59891161-chr3:64135035..64135674,2	MCF-7	breast:
37	chr17:59806342..59807132-chr17:59832653..59833423,2	MCF-7	breast:
38	chr17:59800395..59801174-chr17:59877584..59878511,3	MCF-7	breast:
39	chr17:59850239..59851867-chr17:59853660..59855165,2	K562	blood:
40	chr17:59809037..59811316-chr17:59855205..59856916,2	K562	blood:
41	chr17:59800380..59801370-chr20:52811559..52812508,8	MCF-7	breast:
42	chr17:59833854..59836215-chr19:13952336..13954690,2	MCF-7	breast:
43	chr14:69257652..69259560-chr17:59815915..59818733,2	MCF-7	breast:
44	chr17:59800404..59801266-chr20:52765423..52766339,4	MCF-7	breast:
45	chr17:59877507..59880223-chr20:55698697..55700203,2	MCF-7	breast:
46	chr17:59890842..59893130-chr17:59894180..59895735,2	K562	blood:
47	chr17:59814020..59814536-chr20:52726258..52727003,2	MCF-7	breast:
48	chr1:149856688..149858609-chr17:59810001..59812398,2	MCF-7	breast:
49	chr17:59873836..59876528-chr5:149338569..149340876,2	MCF-7	breast:
50	chr17:59834126..59835820-chr20:48858249..48861101,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TBX4-1	chr17:59812434-59812650	expReg_chr17_10342_+
2	lnc-TBX4-2	chr17:59838949-59839162	expReg_chr17_10353_+

No data

Variant related genes	Relation type
BRIP1	TF binding region
BRIP1	CpG island
ENSG00000136878	chromatin interactions
ENSG00000163162	chromatin interactions
ENSG00000228395	chromatin interactions
ENSG00000124171	chromatin interactions
ENSG00000121075	chromatin interactions
ENSG00000197694	chromatin interactions
ENSG00000226308	chromatin interactions
ENSG00000267131	chromatin interactions
ENSG00000215444	chromatin interactions
ENSG00000115137	chromatin interactions
ENSG00000184009	chromatin interactions
ENSG00000153815	chromatin interactions
ENSG00000229947	chromatin interactions
ENSG00000136819	chromatin interactions
ENSG00000136492	chromatin interactions
ENSG00000106211	chromatin interactions
ENSG00000124151	chromatin interactions
ENSG00000202538	chromatin interactions
ENSG00000123427	chromatin interactions
ENSG00000153944	chromatin interactions
ENSG00000034677	chromatin interactions
ENSG00000083307	chromatin interactions
ENSG00000105520	chromatin interactions
ENSG00000001629	chromatin interactions
ENSG00000184678	chromatin interactions
ENSG00000254024	chromatin interactions
ENSG00000182173	chromatin interactions
ENSG00000122566	chromatin interactions
ENSG00000001631	chromatin interactions
ENSG00000062716	chromatin interactions
ENSG00000198890	chromatin interactions
ENSG00000130699	chromatin interactions
ENSG00000233449	chromatin interactions
ENSG00000224165	chromatin interactions
ENSG00000184260	chromatin interactions
ENSG00000264857	chromatin interactions
ENSG00000121068	chromatin interactions
ENSG00000200795	chromatin interactions
ENSG00000108506	chromatin interactions
ENSG00000101144	chromatin interactions
ENSG00000146242	chromatin interactions
ENSG00000164924	chromatin interactions
ENSG00000163636	chromatin interactions
ENSG00000243069	chromatin interactions
ENSG00000199004	chromatin interactions
ENSG00000114790	chromatin interactions
ENSG00000187013	chromatin interactions
ENSG00000118482	chromatin interactions
ENSG00000037897	chromatin interactions
ENSG00000267280	chromatin interactions
ENSG00000257921	chromatin interactions
ENSG00000131788	chromatin interactions
ENSG00000155850	chromatin interactions
ENSG00000207422	chromatin interactions
ENSG00000170836	chromatin interactions
ENSG00000185650	chromatin interactions

Extended variants
information (count: 3022 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:3022 , 50 per page) page: 1 2 3 4 5 6 7 ... 61

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12453966	chr17:59800827-59800828	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs35611253	chr17:59800831-59800832	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs371550316	chr17:59800929-59800930	Weak transcription Enhancers Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs375316959	chr17:59800941-59800942	Weak transcription Enhancers Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs149553692	chr17:59800947-59800948	Weak transcription Enhancers Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs73328548	chr17:59800952-59800953	Weak transcription Enhancers Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs573021390	chr17:59800970-59800971	Weak transcription Enhancers Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs191006137	chr17:59800982-59800983	Weak transcription Enhancers Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs536581460	chr17:59800987-59800988	Weak transcription Enhancers Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs553303885	chr17:59801007-59801008	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs572996054	chr17:59801024-59801025	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs538837362	chr17:59801039-59801040	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs17612238	chr17:59801062-59801063	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs182348383	chr17:59801117-59801118	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs544266338	chr17:59801123-59801124	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs560974338	chr17:59801164-59801165	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs561975964	chr17:59801174-59801175	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs574488706	chr17:59801188-59801189	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs529454757	chr17:59801235-59801236	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs187426919	chr17:59801352-59801353	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs7207074	chr17:59801441-59801442	Weak transcription	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs34310041	chr17:59801486-59801487	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs532647435	chr17:59801558-59801559	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs546397801	chr17:59801560-59801561	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs148731603	chr17:59801650-59801651	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs563042566	chr17:59801663-59801664	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs530661737	chr17:59801664-59801665	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs560784721	chr17:59801688-59801689	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs550677013	chr17:59801708-59801709	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs111542575	chr17:59801735-59801736	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs549580745	chr17:59801970-59801971	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs201108318	chr17:59801993-59801994	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs377481061	chr17:59802009-59802010	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs529707001	chr17:59802022-59802023	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs546580899	chr17:59802183-59802184	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
36	rs370738763	chr17:59802217-59802218	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs566763730	chr17:59802242-59802243	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs538530016	chr17:59802247-59802248	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs114192527	chr17:59802274-59802275	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs568942858	chr17:59802282-59802283	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs559321695	chr17:59802297-59802298	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs147914727	chr17:59802322-59802323	Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
43	rs190895827	chr17:59802389-59802390	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs57246896	chr17:59802484-59802485	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs540234603	chr17:59802494-59802495	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs553850820	chr17:59802504-59802505	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs6504066	chr17:59802506-59802507	Weak transcription	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs546160996	chr17:59802508-59802509	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs78484940	chr17:59802512-59802513	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs530668016	chr17:59802586-59802587	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:111)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:1212 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:59766000-59819000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr17:59778200-59805800	Weak transcription	Thymus	Thymus
3	chr17:59781600-59835400	Weak transcription	Hela-S3	cervix
4	chr17:59784400-59815200	Weak transcription	HMEC	breast
5	chr17:59786600-59815400	Weak transcription	Fetal Thymus	thymus
6	chr17:59792000-59815200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr17:59793200-59803400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr17:59793200-59819400	Weak transcription	NH-A	brain
9	chr17:59793600-59821200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr17:59794200-59815200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr17:59794200-59819600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr17:59794400-59815200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr17:59794400-59816200	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr17:59794400-59848200	Weak transcription	HUVEC	blood vessel
15	chr17:59794600-59807200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr17:59794800-59806000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr17:59794800-59815200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr17:59796200-59805600	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr17:59796200-59805800	Weak transcription	A549	lung
20	chr17:59796200-59814400	Weak transcription	Primary hematopoietic stem cells	blood
21	chr17:59797400-59817600	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr17:59797600-59813000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr17:59798200-59803400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr17:59798400-59803400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr17:59798400-59815000	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr17:59798800-59816400	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr17:59799000-59801000	Strong transcription	Dnd41	blood
28	chr17:59800400-59801000	Enhancers	HepG2	liver
29	chr17:59800800-59801000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr17:59800800-59803000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr17:59800800-59814400	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr17:59801000-59803000	Weak transcription	Dnd41	blood
33	chr17:59801000-59815400	Weak transcription	HepG2	liver
34	chr17:59801200-59817400	Weak transcription	Small Intestine	intestine
35	chr17:59801600-59805800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr17:59801600-59815000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr17:59801600-59816200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr17:59802000-59808600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr17:59802200-59802800	Weak transcription	Fetal Lung	lung
40	chr17:59803000-59804600	Strong transcription	Dnd41	blood
41	chr17:59803000-59808000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr17:59803400-59804000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr17:59803400-59804200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr17:59803400-59807600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr17:59804000-59805800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr17:59804200-59804800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr17:59804200-59814400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr17:59804200-59818800	Weak transcription	Brain Germinal Matrix	brain
49	chr17:59804200-59847400	Weak transcription	K562	blood
50	chr17:59804600-59805800	Weak transcription	Dnd41	blood

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