Variant report

Variant	rs9901670
Chromosome Location	chr17:37895532-37895533
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:37893608-37896965	HepG2	liver:	n/a	n/a
2	MYBL2	chr17:37893721-37896115	HepG2	liver:	n/a	n/a
3	TCF7L2	chr17:37895472-37895983	Hela-S3	cervix:	n/a	n/a
4	ZBTB7A	chr17:37895275-37896536	ECC-1	luminal epithelium:	n/a	chr17:37896041-37896052
5	TCF12	chr17:37895221-37896045	HepG2	liver:	n/a	chr17:37895888-37895898
6	FOSL2	chr17:37895530-37896518	A549	lung:	n/a	chr17:37895648-37895659
7	ZEB1	chr17:37895290-37896376	HepG2	liver:	n/a	chr17:37895703-37895710
8	ZBTB7A	chr17:37893725-37896638	ECC-1	luminal epithelium:	n/a	chr17:37895048-37895056 chr17:37896041-37896052
9	POLR2A	chr17:37895404-37897262	HCT-116	colon:	n/a	n/a
10	TCF12	chr17:37893898-37897334	A549	lung:	n/a	chr17:37896386-37896394 chr17:37897318-37897328 chr17:37895888-37895898 chr17:37897157-37897167
11	POLR2A	chr17:37893572-37897094	HepG2	liver:	n/a	n/a
12	HNF4G	chr17:37895264-37896074	HepG2	liver:	n/a	chr17:37895464-37895479 chr17:37895464-37895479 chr17:37895465-37895478 chr17:37895466-37895478
13	CREB1	chr17:37893479-37897560	HepG2	liver:	n/a	n/a
14	NFIC	chr17:37894917-37896070	HepG2	liver:	n/a	n/a
15	MYBL2	chr17:37895193-37896290	HepG2	liver:	n/a	n/a
16	POLR2A	chr17:37894001-37897009	MCF10A-Er-Src	breast:	n/a	n/a
17	HNF4A	chr17:37895170-37895686	HepG2	liver:	n/a	chr17:37895464-37895479 chr17:37895464-37895479 chr17:37895464-37895479 chr17:37895465-37895478 chr17:37895466-37895478
18	TEAD4	chr17:37895224-37896031	HepG2	liver:	n/a	n/a
19	RFX5	chr17:37895527-37896096	HepG2	liver:	n/a	n/a
20	YY1	chr17:37893502-37895657	HepG2	liver:	n/a	chr17:37894785-37894796 chr17:37893774-37893782 chr17:37893685-37893696 chr17:37895406-37895415 chr17:37893684-37893693
21	E2F4	chr17:37895414-37895976	MCF10A-Er-Src	breast:	n/a	chr17:37895747-37895756 chr17:37895781-37895793
22	HNF4A	chr17:37895268-37896082	HepG2	liver:	n/a	chr17:37895464-37895479 chr17:37895464-37895479 chr17:37895464-37895479 chr17:37895465-37895478 chr17:37895466-37895478
23	ELF1	chr17:37895261-37896338	HepG2	liver:	n/a	chr17:37895876-37895888 chr17:37895920-37895933
24	SP1	chr17:37895412-37896209	H1-hESC	embryonic stem cell:	n/a	chr17:37896129-37896143 chr17:37895747-37895756 chr17:37895637-37895647 chr17:37895748-37895757 chr17:37895636-37895648 chr17:37895827-37895841 chr17:37895636-37895648 chr17:37895746-37895758 chr17:37895424-37895436 chr17:37895747-37895757 chr17:37895637-37895646 chr17:37895424-37895436 chr17:37895828-37895841 chr17:37895637-37895647 chr17:37895975-37895988 chr17:37895746-37895758 chr17:37895747-37895757 chr17:37895743-37895757 chr17:37895638-37895647 chr17:37895748-37895757 chr17:37895598-37895612
25	POLR2A	chr17:37893841-37897214	HCT-116	colon:	n/a	n/a
26	POLR2A	chr17:37895397-37895630	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr17:37895525-37895583	K562	blood:	n/a	n/a
28	FOXA1	chr17:37895286-37896179	HepG2	liver:	n/a	n/a
29	REST	chr17:37895188-37896142	HepG2	liver:	n/a	chr17:37895472-37895490 chr17:37895799-37895812
30	ELF1	chr17:37895409-37896119	HepG2	liver:	n/a	chr17:37895876-37895888 chr17:37895920-37895933
31	MBD4	chr17:37895306-37896828	HepG2	liver:	n/a	n/a
32	TAF1	chr17:37894064-37895724	H1-hESC	embryonic stem cell:	n/a	n/a
33	NFYB	chr17:37895439-37895685	K562	blood:	n/a	n/a
34	REST	chr17:37895366-37895952	A549	lung:	n/a	chr17:37895472-37895490 chr17:37895799-37895812
35	JUND	chr17:37895229-37896440	HepG2	liver:	n/a	chr17:37895407-37895416 chr17:37895648-37895659
36	HNF4A	chr17:37895231-37896037	HepG2	liver:	n/a	chr17:37895464-37895479 chr17:37895464-37895479 chr17:37895464-37895479 chr17:37895465-37895478 chr17:37895466-37895478
37	MAZ	chr17:37895507-37897177	Hela-S3	cervix:	n/a	chr17:37895637-37895647 chr17:37895745-37895755 chr17:37896540-37896550
38	POLR2A	chr17:37893842-37897013	MCF10A-Er-Src	breast:	n/a	n/a
39	CHD2	chr17:37895488-37896054	Hela-S3	cervix:	n/a	chr17:37895748-37895758
40	POLR2A	chr17:37895406-37895540	A549	lung:	n/a	n/a
41	HDAC2	chr17:37895377-37896120	HepG2	liver:	n/a	n/a
42	SRF	chr17:37895295-37895619	HepG2	liver:	n/a	n/a
43	ARID3A	chr17:37895053-37896067	HepG2	liver:	n/a	n/a
44	SIN3AK20	chr17:37895258-37896226	HepG2	liver:	n/a	n/a
45	POLR2A	chr17:37894782-37895532	HepG2	liver:	n/a	n/a
46	POLR2A	chr17:37895155-37895672	K562	blood:	n/a	n/a
47	FOXA2	chr17:37895373-37896466	HepG2	liver:	n/a	n/a
48	TBP	chr17:37895474-37895864	H1-hESC	embryonic stem cell:	n/a	n/a
49	SP1	chr17:37895245-37897506	HCT-116	colon:	n/a	chr17:37896129-37896143 chr17:37895747-37895756 chr17:37895405-37895415 chr17:37895637-37895647 chr17:37895748-37895757 chr17:37895636-37895648 chr17:37895827-37895841 chr17:37896856-37896867 chr17:37895636-37895648 chr17:37895746-37895758 chr17:37896981-37896995 chr17:37896444-37896458 chr17:37896312-37896325 chr17:37895424-37895436 chr17:37895747-37895757 chr17:37896861-37896875 chr17:37895637-37895646 chr17:37895424-37895436 chr17:37895405-37895414 chr17:37895828-37895841 chr17:37895637-37895647 chr17:37895975-37895988 chr17:37895404-37895416 chr17:37896446-37896456 chr17:37895746-37895758 chr17:37895747-37895757 chr17:37896902-37896916 chr17:37895405-37895415 chr17:37895404-37895416 chr17:37897287-37897301 chr17:37895406-37895415 chr17:37895405-37895419 chr17:37897465-37897478 chr17:37895743-37895757 chr17:37896693-37896702 chr17:37895405-37895414 chr17:37897206-37897220 chr17:37895638-37895647 chr17:37895748-37895757 chr17:37895598-37895612
50	RXRA	chr17:37895280-37896067	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:37893210..37895843-chr17:38018530..38020744,2	MCF-7	breast:
2	chr17:37884905..37887693-chr17:37894356..37897202,3	MCF-7	breast:
3	chr17:37855582..37857499-chr17:37893190..37897262,3	MCF-7	breast:
4	chr17:37843015..37846318-chr17:37894966..37898626,3	MCF-7	breast:
5	chr17:37806774..37809121-chr17:37895420..37897002,2	MCF-7	breast:
6	chr17:37884020..37887628-chr17:37894260..37898735,4	K562	blood:
7	chr17:37885346..37888543-chr17:37891725..37895938,5	MCF-7	breast:
8	chr17:37879887..37888300-chr17:37891591..37897811,12	K562	blood:
9	chr17:37820097..37822634-chr17:37895456..37897611,2	K562	blood:
10	chr17:37791351..37794497-chr17:37895466..37898659,4	MCF-7	breast:
11	chr17:37842731..37844399-chr17:37894912..37896553,2	MCF-7	breast:
12	chr11:75110443..75111027-chr17:37895509..37896448,2	Hela-S3	cervix:
13	chr17:37894865..37896620-chr17:37898811..37901343,2	MCF-7	breast:

Variant related genes	Relation type
GRB7	TF binding region
ENSG00000161395	Chromatin interaction
ENSG00000173991	Chromatin interaction
ENSG00000149273	Chromatin interaction
ENSG00000141736	Chromatin interaction
ENSG00000141741	Chromatin interaction
ENSG00000265178	Chromatin interaction
ENSG00000141738	Chromatin interaction
ENSG00000161405	Chromatin interaction
ENSG00000131748	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs13341681	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs9893628	1.00[YRI][hapmap]
rs9893933	1.00[YRI][hapmap]
rs9899977	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv908207	chr17:37709422-37922259	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv1056234	chr17:37862605-37909988	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv908219	chr17:37880265-37917633	Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv1064787	chr17:37892843-38054410	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
5	nsv543342	chr17:37892843-38054410	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37893600-37896000	Active TSS	Liver	Liver
2	chr17:37893600-37897000	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr17:37893600-37897200	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr17:37893600-37897200	Active TSS	Esophagus	oesophagus
5	chr17:37893800-37895800	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr17:37893800-37895800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr17:37893800-37896000	Bivalent Enhancer	Fetal Brain Male	brain
8	chr17:37893800-37896200	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr17:37893800-37896200	Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr17:37893800-37896200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
11	chr17:37893800-37896400	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr17:37893800-37896400	Bivalent/Poised TSS	HepG2	liver
13	chr17:37893800-37897200	Active TSS	Fetal Kidney	kidney
14	chr17:37893800-37897200	Active TSS	Gastric	stomach
15	chr17:37893800-37897400	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr17:37893800-37897600	Active TSS	H9 Cell Line	embryonic stem cell
17	chr17:37894000-37895600	Bivalent/Poised TSS	Colonic Mucosa	Colon
18	chr17:37894000-37895600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
19	chr17:37894000-37895800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
20	chr17:37894000-37895800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr17:37894000-37895800	Active TSS	Rectal Mucosa Donor 31	rectum
22	chr17:37894000-37895800	Active TSS	NHEK	skin
23	chr17:37894000-37896000	Active TSS	Right Atrium	heart
24	chr17:37894000-37896000	Active TSS	A549	lung
25	chr17:37894000-37896000	Active TSS	Hela-S3	cervix
26	chr17:37894000-37896200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr17:37894000-37896400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr17:37894000-37896400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr17:37894000-37896400	Bivalent Enhancer	Primary hematopoietic stem cells	blood
30	chr17:37894000-37896400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
31	chr17:37894000-37896600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr17:37894000-37896600	Active TSS	Pancreas	Pancrea
33	chr17:37894000-37896800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr17:37894200-37895800	Active TSS	H1 Cell Line	embryonic stem cell
35	chr17:37894200-37896400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr17:37894200-37896400	Bivalent/Poised TSS	Fetal Intestine Small	intestine
37	chr17:37894200-37896800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
38	chr17:37894400-37895800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr17:37894400-37896000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr17:37894400-37896000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
41	chr17:37894400-37896200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
42	chr17:37894400-37896200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr17:37894400-37896400	Bivalent/Poised TSS	Stomach Mucosa	stomach
44	chr17:37894600-37895600	Active TSS	Right Ventricle	heart
45	chr17:37894600-37895600	Bivalent/Poised TSS	Small Intestine	intestine
46	chr17:37894600-37895600	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
47	chr17:37894600-37895600	Active TSS	HMEC	breast
48	chr17:37894600-37895800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr17:37894600-37895800	Enhancers	Spleen	Spleen
50	chr17:37894600-37896000	Active TSS	Rectal Smooth Muscle	rectum

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