Variant report

Variant	esv3423744
Chromosome Location	chr17:38278051-38280599
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:752)
CpG islands
(count:490)
Chromatin interactive
region (count:28)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:752 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr17:38279782-38280097	HepG2	liver:	n/a	n/a
2	ARID3A	chr17:38278287-38278317	HepG2	liver:	n/a	n/a
3	ATF2	chr17:38279514-38280045	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr17:38279562-38280081	GM12878	blood:	n/a	n/a
5	ATF3	chr17:38279467-38280245	A549	lung:	n/a	n/a
6	BCL3	chr17:38279351-38280211	A549	lung:	n/a	n/a
7	BCL3	chr17:38279237-38281119	A549	lung:	n/a	n/a
8	BCL3	chr17:38277168-38278078	A549	lung:	n/a	chr17:38277764-38277777
9	BHLHE40	chr17:38279520-38279965	K562	blood:	n/a	n/a
10	BRCA1	chr17:38279651-38280010	H1-hESC	embryonic stem cell:	n/a	n/a
11	BRCA1	chr17:38279654-38279982	HepG2	liver:	n/a	n/a
12	CBX3	chr17:38279471-38280124	K562	blood:	n/a	n/a
13	CCNT2	chr17:38277713-38279517	K562	blood:	n/a	chr17:38278317-38278326
14	CEBPB	chr17:38278001-38278350	HepG2	liver:	n/a	n/a
15	CEBPB	chr17:38277966-38278364	K562	blood:	n/a	n/a
16	CEBPB	chr17:38277996-38278306	HepG2	liver:	n/a	n/a
17	CEBPB	chr17:38277990-38278351	IMR90	lung:	n/a	n/a
18	CEBPB	chr17:38278003-38278304	HepG2	liver:	n/a	n/a
19	CEBPB	chr17:38278087-38278292	K562	blood:	n/a	n/a
20	CEBPB	chr17:38279583-38280031	H1-hESC	embryonic stem cell:	n/a	n/a
21	CEBPB	chr17:38277921-38278395	ECC-1	luminal epithelium:	n/a	n/a
22	CEBPB	chr17:38278008-38278325	MCF-7	breast:	n/a	n/a
23	CEBPB	chr17:38277993-38278345	HepG2	liver:	n/a	n/a
24	CEBPB	chr17:38279412-38280284	A549	lung:	n/a	n/a
25	CEBPB	chr17:38279652-38280174	Hela-S3	cervix:	n/a	n/a
26	CEBPB	chr17:38277971-38278339	A549	lung:	n/a	n/a
27	CEBPB	chr17:38277808-38278355	K562	blood:	n/a	n/a
28	CEBPB	chr17:38277675-38278342	Hela-S3	cervix:	n/a	n/a
29	CEBPB	chr17:38277873-38278515	A549	lung:	n/a	n/a
30	CEBPB	chr17:38278007-38278332	A549	lung:	n/a	n/a
31	CEBPB	chr17:38278129-38278196	H1-hESC	embryonic stem cell:	n/a	n/a
32	CEBPB	chr17:38279812-38280176	K562	blood:	n/a	n/a
33	CEBPB	chr17:38279847-38280170	HepG2	liver:	n/a	n/a
34	CEBPD	chr17:38277578-38278538	HepG2	liver:	n/a	n/a
35	CEBPD	chr17:38279469-38280056	HepG2	liver:	n/a	n/a
36	CEBPD	chr17:38278044-38278322	HepG2	liver:	n/a	n/a
37	CHD1	chr17:38279423-38279490	GM12878	blood:	n/a	n/a
38	CHD1	chr17:38278605-38279099	GM12878	blood:	n/a	n/a
39	CHD2	chr17:38278194-38278436	K562	blood:	n/a	n/a
40	CHD2	chr17:38277318-38278451	Hela-S3	cervix:	n/a	n/a
41	CHD2	chr17:38278263-38278357	H1-hESC	embryonic stem cell:	n/a	n/a
42	CHD2	chr17:38277656-38278422	HepG2	liver:	n/a	n/a
43	CHD2	chr17:38279528-38280030	H1-hESC	embryonic stem cell:	n/a	n/a
44	CHD2	chr17:38279674-38279902	K562	blood:	n/a	n/a
45	CHD2	chr17:38278146-38278466	GM12878	blood:	n/a	n/a
46	CHD2	chr17:38279419-38280024	Hela-S3	cervix:	n/a	n/a
47	CHD2	chr17:38278823-38279054	GM12878	blood:	n/a	n/a
48	CHD2	chr17:38278671-38279084	Hela-S3	cervix:	n/a	n/a
49	CHD2	chr17:38279715-38280021	GM12878	blood:	n/a	n/a
50	CHD2	chr17:38278818-38279001	HepG2	liver:	n/a	n/a

(count:490 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:38278604-38278654	MCF10A-Er-Src	breast:	n/a
2	chr17:38279234-38279284	AG09319	gingival:	n/a
3	chr17:38278604-38278654	MCF10A-Er-Src	breast:	n/a
4	chr17:38279234-38279284	AG09319	gingival:	n/a
5	chr17:38278610-38278660	HCT-116	colon:	n/a
6	chr17:38278395-38278445	GM12891	blood:	n/a
7	chr17:38279503-38279553	AG10803	skin:	n/a
8	chr17:38279234-38279284	HPAEpiC	pulmonary alveolar:	n/a
9	chr17:38279234-38279284	HNPCEpiC	eye:	n/a
10	chr17:38278486-38278536	SAEC	small airway:	n/a
11	chr17:38279234-38279284	GM12892	blood:	n/a
12	chr17:38278604-38278654	NH-A	brain:	n/a
13	chr17:38278486-38278536	RPTEC	kidney:	n/a
14	chr17:38278395-38278445	AG10803	skin:	n/a
15	chr17:38279750-38279800	Caco-2	colon:	n/a
16	chr17:38278604-38278654	A549	lung:	n/a
17	chr17:38279750-38279800	HRPEpiC	eye:	n/a
18	chr17:38279234-38279284	ovcar-3	ovarian:	n/a
19	chr17:38278610-38278660	H1-hESC	embryonic stem cell:	embryo
20	chr17:38279750-38279800	SK-N-MC	brain:	n/a
21	chr17:38279750-38279800	GM12891	blood:	n/a
22	chr17:38278395-38278445	Hepatocyte	liver:	n/a
23	chr17:38279234-38279284	AoSMC	blood vessel:	n/a
24	chr17:38278604-38278654	U87	brain:	n/a
25	chr17:38278610-38278660	HEK293	kidney:	embryo
26	chr17:38278849-38278899	AG09319	gingival:	n/a
27	chr17:38278395-38278445	HCM	heart:	n/a
28	chr17:38279234-38279284	Jurkat	blood:	n/a
29	chr17:38278395-38278445	NH-A	brain:	n/a
30	chr17:38278486-38278536	CMK	blood:	n/a
31	chr17:38279503-38279553	Jurkat	blood:	n/a
32	chr17:38278604-38278654	HEK293	kidney:	embryo
33	chr17:38278395-38278445	Jurkat	blood:	n/a
34	chr17:38279750-38279800	ovcar-3	ovarian:	n/a
35	chr17:38279503-38279553	HPAEpiC	pulmonary alveolar:	n/a
36	chr17:38278849-38278899	GM12878	blood:	n/a
37	chr17:38279503-38279553	Hela-S3	cervix:	n/a
38	chr17:38278486-38278536	NH-A	brain:	n/a
39	chr17:38278395-38278445	HCT-116	colon:	n/a
40	chr17:38278610-38278660	HAEpiC	amniotic membrane:	n/a
41	chr17:38278610-38278660	GM19239	blood:	n/a
42	chr17:38278395-38278445	PFSK-1	brain:	n/a
43	chr17:38278395-38278445	HCF	heart:	n/a
44	chr17:38279750-38279800	A549	lung:	n/a
45	chr17:38278395-38278445	Hela-S3	cervix:	n/a
46	chr17:38278486-38278536	PFSK-1	brain:	n/a
47	chr17:38278395-38278445	AG09309	skin:	n/a
48	chr17:38278486-38278536	AoSMC	blood vessel:	n/a
49	chr17:38278610-38278660	NHDF-neo	bronchial:	n/a
50	chr17:38278604-38278654	AoSMC	blood vessel:	n/a

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:38210056..38212088-chr17:38279040..38281229,2	MCF-7	breast:
2	chr17:38277696..38279723-chr17:38323244..38326334,3	K562	blood:
3	chr17:38277703..38279802-chr17:38323101..38325533,2	MCF-7	breast:
4	chr17:38277920..38280919-chr17:38344747..38347808,3	MCF-7	breast:
5	chr17:38218404..38220452-chr17:38276626..38279762,3	K562	blood:
6	chr13:111365253..111366239-chr17:38279040..38279916,2	Hela-S3	cervix:
7	chr17:38276987..38281156-chr17:38471490..38477166,7	MCF-7	breast:
8	chr17:38278214..38280293-chr17:38374121..38375969,2	K562	blood:
9	chr17:38276248..38278417-chr17:38373940..38377017,3	MCF-7	breast:
10	chr17:38278523..38280110-chr17:38474047..38475615,2	K562	blood:
11	chr17:38277549..38278389-chr5:172197756..172198597,2	Hela-S3	cervix:
12	chr17:38207226..38209173-chr17:38275974..38278338,2	K562	blood:
13	chr17:38278379..38280119-chr17:38316977..38319050,2	MCF-7	breast:
14	chr17:38277769..38278293-chr19:58873482..58874270,2	Hela-S3	cervix:
15	chr17:38275824..38279709-chr17:38496937..38502326,5	K562	blood:
16	chr17:38276815..38279338-chr17:38332365..38335401,3	MCF-7	breast:
17	chr17:38255433..38258713-chr17:38276171..38280451,4	K562	blood:
18	chr17:38216250..38218338-chr17:38278939..38280546,2	MCF-7	breast:
19	chr17:38252517..38259251-chr17:38276179..38282890,16	MCF-7	breast:
20	chr17:38274376..38281367-chr17:38331383..38338006,23	MCF-7	breast:
21	chr11:62608633..62609626-chr17:38278195..38278733,2	Hela-S3	cervix:
22	chr17:38178218..38182497-chr17:38276428..38279757,5	MCF-7	breast:
23	chr17:38276870..38280410-chr17:38295018..38299576,8	K562	blood:
24	chr17:38218404..38220452-chr17:38276626..38279762,4	K562	blood:
25	chr17:38223441..38229037-chr17:38277080..38281500,5	MCF-7	breast:
26	chr17:38278634..38280743-chr17:38443874..38446945,3	K562	blood:
27	chr17:38186956..38189285-chr17:38277209..38280047,2	MCF-7	breast:
28	chr17:38169401..38172627-chr17:38277979..38280708,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NR1D1-1	chr17:38278037-38278113	XLOC_012467
2	lnc-NR1D1-1	chr17:38278037-38278105	XLOC_012467

No data

Variant related genes	Relation type
MSL1	TF binding region
MSL1	CpG island
ENSG00000008838	chromatin interactions
ENSG00000134905	chromatin interactions
ENSG00000108352	chromatin interactions
ENSG00000108349	chromatin interactions
ENSG00000174586	chromatin interactions
ENSG00000108342	chromatin interactions
ENSG00000265666	chromatin interactions
ENSG00000131759	chromatin interactions
ENSG00000094804	chromatin interactions
ENSG00000126368	chromatin interactions
ENSG00000265799	chromatin interactions
ENSG00000120129	chromatin interactions
ENSG00000268230	chromatin interactions
ENSG00000126351	chromatin interactions
ENSG00000153487	chromatin interactions
ENSG00000171475	chromatin interactions
ENSG00000269054	chromatin interactions
ENSG00000133316	chromatin interactions
FGA	miRNA target sites

Extended variants
information (count: 57 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551560560	chr17:38278098-38278099	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
2	rs9909344	chr17:38278101-38278102	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
3	rs562030786	chr17:38278104-38278105	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
4	rs534335195	chr17:38278150-38278151	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
5	rs529279737	chr17:38278234-38278235	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
6	rs113826025	chr17:38278238-38278239	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
7	rs538219047	chr17:38278305-38278306	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
8	rs556602789	chr17:38278335-38278336	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
9	rs578172352	chr17:38278350-38278351	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
10	rs532591348	chr17:38278428-38278429	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
11	rs538858601	chr17:38278429-38278430	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
12	rs553902108	chr17:38278582-38278583	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
13	rs560044952	chr17:38278780-38278781	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
14	rs376643068	chr17:38278786-38278787	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
15	rs539980187	chr17:38278787-38278788	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
16	rs570052150	chr17:38278824-38278825	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
17	rs192858632	chr17:38278827-38278828	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
18	rs573577800	chr17:38278851-38278852	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
19	rs544160542	chr17:38278914-38278915	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
20	rs117827273	chr17:38279036-38279037	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	mRNA abundance
21	rs533214487	chr17:38279060-38279061	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
22	rs551695683	chr17:38279117-38279118	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
23	rs560427333	chr17:38279129-38279130	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
24	rs527464731	chr17:38279172-38279173	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
25	rs12773	chr17:38279174-38279175	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
26	rs377628299	chr17:38279210-38279211	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
27	rs549241266	chr17:38279325-38279326	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
28	rs369731816	chr17:38279378-38279379	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
29	rs183067679	chr17:38279382-38279383	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
30	rs188505411	chr17:38279387-38279388	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
31	rs9916194	chr17:38279401-38279402	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
32	rs192994224	chr17:38279486-38279487	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
33	rs2293006	chr17:38279534-38279535	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
34	rs184666172	chr17:38279720-38279721	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
35	rs571852334	chr17:38279731-38279732	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
36	rs550647725	chr17:38279750-38279751	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
37	rs554034989	chr17:38279795-38279796	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
38	rs189459797	chr17:38279808-38279809	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
39	rs554092525	chr17:38279892-38279893	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
40	rs536419748	chr17:38279935-38279936	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
41	rs34584917	chr17:38279962-38279963	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
42	rs142767380	chr17:38279974-38279975	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
43	rs555186398	chr17:38280022-38280023	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
44	rs573639459	chr17:38280161-38280162	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
45	rs79006024	chr17:38280177-38280178	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
46	rs111817563	chr17:38280230-38280231	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	mRNA abundance
47	rs539375674	chr17:38280231-38280232	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
48	rs577701162	chr17:38280256-38280257	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
49	rs191191550	chr17:38280284-38280285	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
50	rs560459566	chr17:38280290-38280291	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:122)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
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
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell lymphomas	19863542	CNVD
Cancer	16751803	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
Breast cancer	21858162	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
Chronic lymphocytic leukemia	21546498	CNVD
Gastric cancer	24379144	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Breast cancer	17457667	CNVD
Breast cancer	16951389	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16620391	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22048815	CNVD
Breast cancer	17603634	CNVD
Follicular lymphoma	20505157	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	20953835	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Sezary syndrome	18413736	CNVD
Urothelial carcinoma	21177765	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Disease	22962312	CNVD
Mental retardation	20152051	CNVD
Mental retardation	19951919	CNVD
Mental retardation	22817714	CNVD
Mental retardation	21956041	CNVD
Brain cancer	19584924	CNVD
Glioblastoma multiforme	22286061	CNVD
Schizophrenia	21399695	CNVD
Non-syndromic sensorineural hearing loss	19165922	CNVD
Prader-willi syndrome	20588305	CNVD
17q21.31 microdeletion syndrome	16940994	CNVD
Non-syndromic sensorineural hearing loss	21084979	CNVD
17q21.31 microdeletion syndrome	22283845	CNVD
Intellectual disability	22194194	CNVD
17q21.31 microdeletion syndrome	20606400	CNVD
17q21.31 microdeletion syndrome	18628315	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
TAR Syndrome	17847015	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	20409316	CNVD
HIV/AIDS	18360285	CNVD
HIV/AIDS	17330138	CNVD
Systemic lupus erythematosus	19287148	CNVD
Frontotemporal lobar degeneration	19640594	CNVD
HIV/AIDS	17008540	CNVD
Breast cancer	17850661	CNVD
Breast cancer	19261255	CNVD
Lung cancer	16773561	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Basal-like breast cancer	18066063	CNVD
Breast cancer	20031965	CNVD
Colorectal cancer	19287155	CNVD
Hereditary breast	19566914	CNVD
Ovarian cancer	19047089	CNVD
Ovarian cancer	19566914	CNVD
Triple-negative breast cancer	18950515	CNVD
Breast cancer	16846527	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:229 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38276600-38280400	Active TSS	Duodenum Smooth Muscle	Duodenum
2	chr17:38276800-38280600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr17:38276800-38280600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr17:38276800-38280800	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr17:38276800-38280800	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr17:38276800-38280800	Active TSS	Fetal Kidney	kidney
7	chr17:38276800-38281000	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr17:38276800-38281000	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr17:38276800-38281800	Active TSS	NHLF	lung
10	chr17:38277000-38279000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr17:38277000-38279000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr17:38277000-38280200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr17:38277000-38280800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr17:38277000-38280800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr17:38277000-38280800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
16	chr17:38277000-38280800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr17:38277000-38280800	Active TSS	Brain Angular Gyrus	brain
18	chr17:38277000-38280800	Active TSS	Fetal Lung	lung
19	chr17:38277000-38280800	Active TSS	Rectal Smooth Muscle	rectum
20	chr17:38277000-38280800	Active TSS	GM12878-XiMat	blood
21	chr17:38277000-38281000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr17:38277000-38281400	Active TSS	NHDF-Ad	bronchial
23	chr17:38277000-38281600	Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr17:38277000-38282000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr17:38277000-38282200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr17:38277200-38279200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr17:38277200-38280600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr17:38277200-38280600	Active TSS	Fetal Intestine Small	intestine
29	chr17:38277200-38280600	Active TSS	NH-A	brain
30	chr17:38277200-38280800	Active TSS	H9 Cell Line	embryonic stem cell
31	chr17:38277200-38280800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr17:38277200-38280800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr17:38277200-38280800	Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr17:38277200-38280800	Active TSS	Fetal Intestine Large	intestine
35	chr17:38277200-38280800	Active TSS	Fetal Stomach	stomach
36	chr17:38277200-38280800	Active TSS	Ovary	ovary
37	chr17:38277200-38280800	Active TSS	Placenta Amnion	Placenta Amnion
38	chr17:38277200-38280800	Active TSS	HSMM	muscle
39	chr17:38277200-38280800	Active TSS	HSMMtube	muscle
40	chr17:38277200-38281000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr17:38277200-38281200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr17:38277200-38281200	Active TSS	iPS-15b Cell Line	embryonic stem cell
43	chr17:38277200-38281200	Active TSS	Aorta	Aorta
44	chr17:38277200-38281200	Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr17:38277200-38281200	Active TSS	Fetal Muscle Trunk	muscle
46	chr17:38277200-38281200	Active TSS	Right Ventricle	heart
47	chr17:38277200-38281400	Active TSS	Breast Myoepithelial Primary Cells	Breast
48	chr17:38277400-38278400	Transcr. at gene 5' and 3'	Right Atrium	heart
49	chr17:38277400-38279800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
50	chr17:38277400-38280000	Active TSS	Brain Hippocampus Middle	brain

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