Variant report

Variant	esv3373189
Chromosome Location	chr17:38277451-38280299
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:809)
CpG islands
(count:611)
Chromatin interactive
region (count:30)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:809 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr17:38278287-38278317	HepG2	liver:	n/a	n/a
2	ARID3A	chr17:38279782-38280097	HepG2	liver:	n/a	n/a
3	ATF2	chr17:38279562-38280081	GM12878	blood:	n/a	n/a
4	ATF2	chr17:38279514-38280045	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF3	chr17:38279467-38280245	A549	lung:	n/a	n/a
6	BACH1	chr17:38277561-38277993	H1-hESC	embryonic stem cell:	n/a	n/a
7	BCL3	chr17:38279351-38280211	A549	lung:	n/a	n/a
8	BCL3	chr17:38279237-38281119	A549	lung:	n/a	n/a
9	BCL3	chr17:38277168-38278078	A549	lung:	n/a	chr17:38277764-38277777
10	BHLHE40	chr17:38279520-38279965	K562	blood:	n/a	n/a
11	BRCA1	chr17:38279654-38279982	HepG2	liver:	n/a	n/a
12	BRCA1	chr17:38277628-38277633	HepG2	liver:	n/a	n/a
13	BRCA1	chr17:38277371-38277719	Hela-S3	cervix:	n/a	n/a
14	BRCA1	chr17:38279651-38280010	H1-hESC	embryonic stem cell:	n/a	n/a
15	CBX3	chr17:38279471-38280124	K562	blood:	n/a	n/a
16	CCNT2	chr17:38277713-38279517	K562	blood:	n/a	chr17:38278317-38278326
17	CEBPB	chr17:38279583-38280031	H1-hESC	embryonic stem cell:	n/a	n/a
18	CEBPB	chr17:38279412-38280284	A549	lung:	n/a	n/a
19	CEBPB	chr17:38278008-38278325	MCF-7	breast:	n/a	n/a
20	CEBPB	chr17:38278007-38278332	A549	lung:	n/a	n/a
21	CEBPB	chr17:38278129-38278196	H1-hESC	embryonic stem cell:	n/a	n/a
22	CEBPB	chr17:38277808-38278355	K562	blood:	n/a	n/a
23	CEBPB	chr17:38277966-38278364	K562	blood:	n/a	n/a
24	CEBPB	chr17:38277675-38278342	Hela-S3	cervix:	n/a	n/a
25	CEBPB	chr17:38277996-38278306	HepG2	liver:	n/a	n/a
26	CEBPB	chr17:38279652-38280174	Hela-S3	cervix:	n/a	n/a
27	CEBPB	chr17:38277873-38278515	A549	lung:	n/a	n/a
28	CEBPB	chr17:38277971-38278339	A549	lung:	n/a	n/a
29	CEBPB	chr17:38279847-38280170	HepG2	liver:	n/a	n/a
30	CEBPB	chr17:38277921-38278395	ECC-1	luminal epithelium:	n/a	n/a
31	CEBPB	chr17:38278003-38278304	HepG2	liver:	n/a	n/a
32	CEBPB	chr17:38278001-38278350	HepG2	liver:	n/a	n/a
33	CEBPB	chr17:38277990-38278351	IMR90	lung:	n/a	n/a
34	CEBPB	chr17:38278087-38278292	K562	blood:	n/a	n/a
35	CEBPB	chr17:38279812-38280176	K562	blood:	n/a	n/a
36	CEBPB	chr17:38277993-38278345	HepG2	liver:	n/a	n/a
37	CEBPD	chr17:38277578-38278538	HepG2	liver:	n/a	n/a
38	CEBPD	chr17:38279469-38280056	HepG2	liver:	n/a	n/a
39	CEBPD	chr17:38278044-38278322	HepG2	liver:	n/a	n/a
40	CHD1	chr17:38279423-38279490	GM12878	blood:	n/a	n/a
41	CHD1	chr17:38277725-38277947	H1-hESC	embryonic stem cell:	n/a	n/a
42	CHD1	chr17:38278605-38279099	GM12878	blood:	n/a	n/a
43	CHD2	chr17:38278671-38279084	Hela-S3	cervix:	n/a	n/a
44	CHD2	chr17:38279715-38280021	GM12878	blood:	n/a	n/a
45	CHD2	chr17:38277318-38278451	Hela-S3	cervix:	n/a	n/a
46	CHD2	chr17:38277930-38278044	H1-hESC	embryonic stem cell:	n/a	n/a
47	CHD2	chr17:38279674-38279902	K562	blood:	n/a	n/a
48	CHD2	chr17:38278818-38279001	HepG2	liver:	n/a	n/a
49	CHD2	chr17:38278263-38278357	H1-hESC	embryonic stem cell:	n/a	n/a
50	CHD2	chr17:38277596-38277636	K562	blood:	n/a	n/a

(count:611 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:38278486-38278536	SAEC	small airway:	n/a
2	chr17:38278486-38278536	SAEC	small airway:	n/a
3	chr17:38278486-38278536	AG09319	gingival:	n/a
4	chr17:38278486-38278536	Hepatocyte	liver:	n/a
5	chr17:38278849-38278899	HEEpiC	esophagus:	n/a
6	chr17:38278849-38278899	HCPEpiC	choroid plexus:	n/a
7	chr17:38279234-38279284	HPAEpiC	pulmonary alveolar:	n/a
8	chr17:38279234-38279284	AG04450	lung:	fetal
9	chr17:38277761-38277811	MCF10A-Er-Src	breast:	n/a
10	chr17:38279503-38279553	AoSMC	blood vessel:	n/a
11	chr17:38278395-38278445	HEK293	kidney:	embryo
12	chr17:38279750-38279800	HRPEpiC	eye:	n/a
13	chr17:38277603-38277653	ProgFib	skin:	n/a
14	chr17:38278395-38278445	AG09309	skin:	n/a
15	chr17:38278849-38278899	Jurkat	blood:	n/a
16	chr17:38279503-38279553	NH-A	brain:	n/a
17	chr17:38278486-38278536	HEEpiC	esophagus:	n/a
18	chr17:38277761-38277811	ovcar-3	ovarian:	n/a
19	chr17:38278486-38278536	H1-hESC	embryonic stem cell:	embryo
20	chr17:38279750-38279800	U87	brain:	n/a
21	chr17:38278849-38278899	HCF	heart:	n/a
22	chr17:38278849-38278899	AG04450	lung:	fetal
23	chr17:38278604-38278654	PFSK-1	brain:	n/a
24	chr17:38279234-38279284	AoSMC	blood vessel:	n/a
25	chr17:38277603-38277653	AoSMC	blood vessel:	n/a
26	chr17:38278610-38278660	HNPCEpiC	eye:	n/a
27	chr17:38278604-38278654	SAEC	small airway:	n/a
28	chr17:38278849-38278899	GM12878	blood:	n/a
29	chr17:38278610-38278660	ProgFib	skin:	n/a
30	chr17:38277603-38277653	K562	blood:	n/a
31	chr17:38279234-38279284	ECC-1	luminal epithelium:	n/a
32	chr17:38278486-38278536	AoSMC	blood vessel:	n/a
33	chr17:38279234-38279284	Hela-S3	cervix:	n/a
34	chr17:38278604-38278654	HEEpiC	esophagus:	n/a
35	chr17:38277603-38277653	NB4	blood:	n/a
36	chr17:38278849-38278899	SK-N-SH_RA	brain:	n/a
37	chr17:38278610-38278660	HMEC	breast:	n/a
38	chr17:38278395-38278445	NT2-D1	testis:	n/a
39	chr17:38278604-38278654	Jurkat	blood:	n/a
40	chr17:38277761-38277811	HAEpiC	amniotic membrane:	n/a
41	chr17:38278849-38278899	AG04449	skin:	fetal
42	chr17:38279503-38279553	RPTEC	kidney:	n/a
43	chr17:38278486-38278536	GM12892	blood:	n/a
44	chr17:38279234-38279284	HEEpiC	esophagus:	n/a
45	chr17:38278604-38278654	SK-N-SH	brain:	n/a
46	chr17:38277761-38277811	HCM	heart:	n/a
47	chr17:38278849-38278899	SK-N-MC	brain:	n/a
48	chr17:38278395-38278445	CMK	blood:	n/a
49	chr17:38278486-38278536	HRPEpiC	eye:	n/a
50	chr17:38279750-38279800	HEK293	kidney:	embryo

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:38218404..38220452-chr17:38276626..38279762,4	K562	blood:
2	chr17:38278523..38280110-chr17:38474047..38475615,2	K562	blood:
3	chr17:38277920..38280919-chr17:38344747..38347808,3	MCF-7	breast:
4	chr17:38178218..38182497-chr17:38276428..38279757,5	MCF-7	breast:
5	chr13:111365253..111366239-chr17:38279040..38279916,2	Hela-S3	cervix:
6	chr17:38218404..38220452-chr17:38276626..38279762,3	K562	blood:
7	chr17:38207226..38209173-chr17:38275974..38278338,2	K562	blood:
8	chr17:38216250..38218338-chr17:38278939..38280546,2	MCF-7	breast:
9	chr17:38276870..38280410-chr17:38295018..38299576,8	K562	blood:
10	chr17:38278214..38280293-chr17:38374121..38375969,2	K562	blood:
11	chr17:38255433..38258713-chr17:38276171..38280451,4	K562	blood:
12	chr17:38210056..38212088-chr17:38279040..38281229,2	MCF-7	breast:
13	chr17:38274376..38281367-chr17:38331383..38338006,23	MCF-7	breast:
14	chr17:38252517..38259251-chr17:38276179..38282890,16	MCF-7	breast:
15	chr17:38276987..38281156-chr17:38471490..38477166,7	MCF-7	breast:
16	chr17:38186956..38189285-chr17:38277209..38280047,2	MCF-7	breast:
17	chr17:38278634..38280743-chr17:38443874..38446945,3	K562	blood:
18	chr17:38223441..38229037-chr17:38277080..38281500,5	MCF-7	breast:
19	chr17:38276983..38277924-chr6:31587852..31588427,2	Hela-S3	cervix:
20	chr17:38278379..38280119-chr17:38316977..38319050,2	MCF-7	breast:
21	chr17:38276815..38279338-chr17:38332365..38335401,3	MCF-7	breast:
22	chr17:38277703..38279802-chr17:38323101..38325533,2	MCF-7	breast:
23	chr17:38275824..38279709-chr17:38496937..38502326,5	K562	blood:
24	chr17:38277769..38278293-chr19:58873482..58874270,2	Hela-S3	cervix:
25	chr17:38274785..38277489-chr17:38323556..38326542,2	MCF-7	breast:
26	chr17:38169401..38172627-chr17:38277979..38280708,3	K562	blood:
27	chr17:38276248..38278417-chr17:38373940..38377017,3	MCF-7	breast:
28	chr17:38277696..38279723-chr17:38323244..38326334,3	K562	blood:
29	chr11:62608633..62609626-chr17:38278195..38278733,2	Hela-S3	cervix:
30	chr17:38277549..38278389-chr5:172197756..172198597,2	Hela-S3	cervix:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NR1D1-1	chr17:38276065-38277620	XLOC_012467
2	lnc-NR1D1-1	chr17:38275466-38277989	NONHSAT053517
3	lnc-NR1D1-1	chr17:38278037-38278105	XLOC_012467
4	lnc-NR1D1-1	chr17:38278037-38278113	XLOC_012467
5	lnc-NR1D1-1	chr17:38277006-38277663	XLOC_012467

No data

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

Extended variants
information (count: 73 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9903261	chr17:38277468-38277469	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs62065224	chr17:38277473-38277474	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
3	rs558305082	chr17:38277520-38277521	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
4	rs188084951	chr17:38277538-38277539	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
5	rs533005535	chr17:38277580-38277581	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
6	rs540491389	chr17:38277648-38277649	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
7	rs189816359	chr17:38277670-38277671	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
8	rs182428273	chr17:38277679-38277680	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
9	rs546817109	chr17:38277681-38277682	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
10	rs578132756	chr17:38277704-38277705	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
11	rs545171100	chr17:38277772-38277773	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
12	rs201897599	chr17:38277775-38277776	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
13	rs187091155	chr17:38277787-38277788	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
14	rs572564260	chr17:38277809-38277810	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
15	rs539846055	chr17:38277843-38277844	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
16	rs561576132	chr17:38277844-38277845	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
17	rs568299164	chr17:38277858-38277859	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
18	rs528871843	chr17:38277891-38277892	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
19	rs9915775	chr17:38277906-38277907	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs138325817	chr17:38277914-38277915	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
21	rs111414348	chr17:38277933-38277934	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
22	rs575697622	chr17:38277990-38277991	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
23	rs533177180	chr17:38278037-38278038	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
24	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
25	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
26	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
27	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
28	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
29	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
30	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
31	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
32	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
33	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
34	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
35	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
36	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
37	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
38	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
39	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
40	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
41	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
42	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
43	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
44	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
45	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
46	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
47	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
48	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
49	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
50	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

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:279 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38276400-38277800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
2	chr17:38276400-38277800	Flanking Active TSS	Stomach Smooth Muscle	stomach
3	chr17:38276600-38277600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr17:38276600-38277600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr17:38276600-38277600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
6	chr17:38276600-38277600	Flanking Active TSS	HMEC	breast
7	chr17:38276600-38277600	Flanking Active TSS	NHEK	skin
8	chr17:38276600-38277800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
9	chr17:38276600-38277800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr17:38276600-38280400	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr17:38276800-38277600	Flanking Active TSS	Brain Cingulate Gyrus	brain
12	chr17:38276800-38277600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
13	chr17:38276800-38277600	Flanking Active TSS	Fetal Muscle Leg	muscle
14	chr17:38276800-38277600	Flanking Active TSS	Fetal Thymus	thymus
15	chr17:38276800-38277600	Flanking Active TSS	Hela-S3	cervix
16	chr17:38276800-38277600	Flanking Active TSS	HUVEC	blood vessel
17	chr17:38276800-38280600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr17:38276800-38280600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr17:38276800-38280800	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr17:38276800-38280800	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr17:38276800-38280800	Active TSS	Fetal Kidney	kidney
22	chr17:38276800-38281000	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr17:38276800-38281000	Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr17:38276800-38281800	Active TSS	NHLF	lung
25	chr17:38277000-38277600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr17:38277000-38277600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
27	chr17:38277000-38277800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr17:38277000-38277800	Flanking Active TSS	Adipose Nuclei	Adipose
29	chr17:38277000-38277800	Active TSS	Fetal Brain Male	brain
30	chr17:38277000-38278000	Flanking Active TSS	Primary B cells from cord blood	blood
31	chr17:38277000-38279000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr17:38277000-38279000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr17:38277000-38280200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr17:38277000-38280800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr17:38277000-38280800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr17:38277000-38280800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr17:38277000-38280800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr17:38277000-38280800	Active TSS	Brain Angular Gyrus	brain
39	chr17:38277000-38280800	Active TSS	Fetal Lung	lung
40	chr17:38277000-38280800	Active TSS	Rectal Smooth Muscle	rectum
41	chr17:38277000-38280800	Active TSS	GM12878-XiMat	blood
42	chr17:38277000-38281000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr17:38277000-38281400	Active TSS	NHDF-Ad	bronchial
44	chr17:38277000-38281600	Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr17:38277000-38282000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr17:38277000-38282200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr17:38277200-38277600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
48	chr17:38277200-38277600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
49	chr17:38277200-38277600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr17:38277200-38277600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links