Variant report

Variant	rs908089
Chromosome Location	chr17:63179942-63179943
allele	C/T
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	chr17:63179609-63180275	H1-hESC	embryonic stem cell:	n/a	n/a
2	HDAC2	chr17:63179891-63180226	H1-hESC	embryonic stem cell:	n/a	n/a
3	SP1	chr17:63179723-63180324	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr17:63179680-63180313	H1-hESC	embryonic stem cell:	n/a	n/a
5	SRF	chr17:63179733-63180236	H1-hESC	embryonic stem cell:	n/a	chr17:63180041-63180059 chr17:63180041-63180055 chr17:63180043-63180058 chr17:63180039-63180056 chr17:63180044-63180057 chr17:63180042-63180059
6	TEAD4	chr17:63179814-63180316	A549	lung:	n/a	n/a
7	SP1	chr17:63179766-63180333	A549	lung:	n/a	n/a
8	EP300	chr17:63179682-63182280	SK-N-SH	brain:	n/a	chr17:63180252-63180266 chr17:63180019-63180029
9	FOXA1	chr17:63179887-63180187	ECC-1	luminal epithelium:	n/a	n/a
10	GATA3	chr17:63179714-63180492	SK-N-SH	brain:	n/a	chr17:63180208-63180219
11	SRF	chr17:63179792-63180399	ECC-1	luminal epithelium:	n/a	chr17:63180041-63180059 chr17:63180041-63180055 chr17:63180043-63180058 chr17:63180039-63180056 chr17:63180044-63180057 chr17:63180042-63180059
12	TCF12	chr17:63179719-63180633	SK-N-SH	brain:	n/a	chr17:63180232-63180240 chr17:63180020-63180029
13	FOXA2	chr17:63179699-63180234	A549	lung:	n/a	n/a
14	MAX	chr17:63179824-63180379	H1-hESC	embryonic stem cell:	n/a	n/a
15	TCF12	chr17:63179609-63180398	A549	lung:	n/a	chr17:63180232-63180240 chr17:63180020-63180029
16	SP1	chr17:63179754-63180327	A549	lung:	n/a	n/a
17	TEAD4	chr17:63179814-63180291	ECC-1	luminal epithelium:	n/a	n/a
18	USF1	chr17:63179908-63180230	A549	lung:	n/a	n/a
19	GTF2F1	chr17:63179918-63180298	H1-hESC	embryonic stem cell:	n/a	n/a
20	TAF1	chr17:63179659-63180284	H1-hESC	embryonic stem cell:	n/a	n/a
21	TEAD4	chr17:63179736-63180425	SK-N-SH	brain:	n/a	n/a
22	ATF2	chr17:63179809-63180246	H1-hESC	embryonic stem cell:	n/a	n/a
23	TEAD4	chr17:63179768-63180351	H1-hESC	embryonic stem cell:	n/a	n/a
24	YY1	chr17:63179684-63180284	H1-hESC	embryonic stem cell:	n/a	n/a
25	TEAD4	chr17:63179762-63180373	A549	lung:	n/a	n/a
26	SP1	chr17:63179810-63180335	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr17:63179764-63180250	H1-hESC	embryonic stem cell:	n/a	n/a
28	CREB1	chr17:63179872-63180304	H1-hESC	embryonic stem cell:	n/a	n/a
29	TEAD4	chr17:63179780-63180381	ECC-1	luminal epithelium:	n/a	n/a
30	TAF7	chr17:63179661-63180216	H1-hESC	embryonic stem cell:	n/a	n/a
31	NFIC	chr17:63179749-63180511	SK-N-SH	brain:	n/a	n/a
32	GATA3	chr17:63179644-63180414	A549	lung:	n/a	chr17:63180208-63180219
33	SRF	chr17:63179724-63180324	H1-hESC	embryonic stem cell:	n/a	chr17:63180041-63180059 chr17:63180041-63180055 chr17:63180043-63180058 chr17:63180039-63180056 chr17:63180044-63180057 chr17:63180042-63180059
34	TCF12	chr17:63179888-63180231	H1-hESC	embryonic stem cell:	n/a	chr17:63180020-63180029
35	EP300	chr17:63179760-63180359	H1-hESC	embryonic stem cell:	n/a	chr17:63180252-63180266 chr17:63180019-63180029
36	TEAD4	chr17:63179894-63180467	SK-N-SH	brain:	n/a	n/a
37	SP4	chr17:63179873-63180202	H1-hESC	embryonic stem cell:	n/a	n/a
38	ATF2	chr17:63179826-63180327	H1-hESC	embryonic stem cell:	n/a	n/a
39	FOXA1	chr17:63179806-63180228	T-47D	breast:	n/a	n/a
40	GATA3	chr17:63179874-63180279	T-47D	breast:	n/a	chr17:63180208-63180219
41	YY1	chr17:63179733-63180259	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr17:63179810-63180197	HUVEC	blood vessel:	n/a	n/a
43	TBP	chr17:63179760-63180329	H1-hESC	embryonic stem cell:	n/a	n/a
44	SRF	chr17:63179647-63180447	MCF-7	breast:	n/a	chr17:63180041-63180059 chr17:63180041-63180055 chr17:63180043-63180058 chr17:63180039-63180056 chr17:63180044-63180057 chr17:63180042-63180059
45	FOXA1	chr17:63179845-63180167	T-47D	breast:	n/a	n/a
46	E2F6	chr17:63179784-63180759	H1-hESC	embryonic stem cell:	n/a	n/a
47	CREB1	chr17:63179752-63180377	H1-hESC	embryonic stem cell:	n/a	n/a
48	FOSL2	chr17:63179851-63180355	A549	lung:	n/a	n/a
49	MYC	chr17:63179924-63180370	H1-hESC	embryonic stem cell:	n/a	n/a
50	GATA3	chr17:63179733-63180716	SK-N-SH	brain:	n/a	chr17:63180208-63180219

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:63178028..63180075-chr17:63181062..63183673,2	K562	blood:
2	chr17:63173795..63175589-chr17:63177989..63180729,2	MCF-7	breast:

Variant related genes	Relation type
RGS9	TF binding region
ENSG00000265883	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10514867	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11650746	0.94[ASN][1000 genomes]
rs11651062	0.94[ASN][1000 genomes]
rs11651081	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11654243	0.89[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11654391	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11657250	0.94[ASN][1000 genomes]
rs11658655	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11658673	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11658736	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11658773	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1514500	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs16960903	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16960905	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16960920	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16960957	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16961015	1.00[CHB][hapmap]
rs16961273	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs28451574	0.81[ASN][1000 genomes]
rs28525077	0.81[ASN][1000 genomes]
rs2869578	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2869579	0.94[ASN][1000 genomes]
rs2869580	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2869582	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2869584	0.94[ASN][1000 genomes]
rs4293415	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4588019	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4791220	0.90[CEU][hapmap]
rs4791223	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4791227	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4791228	0.81[EUR][1000 genomes]
rs55948632	0.81[ASN][1000 genomes]
rs55948933	0.94[ASN][1000 genomes]
rs56102951	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59173947	0.81[ASN][1000 genomes]
rs61708414	0.81[ASN][1000 genomes]
rs7207726	0.94[CEU][hapmap];0.84[EUR][1000 genomes]
rs7211341	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7215502	0.94[ASN][1000 genomes]
rs7217524	1.00[JPT][hapmap]
rs7217548	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7218518	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7220710	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7220949	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7221103	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73330407	0.87[ASN][1000 genomes]
rs73347632	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8065438	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs8065444	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs8065725	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8066063	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs8066072	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs8068016	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs8071603	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8072543	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8072633	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs8080929	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs925674	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs9889653	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9896245	1.00[CEU][hapmap]
rs9897592	1.00[CEU][hapmap]
rs9898825	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9900568	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs9900709	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs9901108	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9904207	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs9907146	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs9907374	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs9908359	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs9914418	0.94[ASN][1000 genomes]
rs9914790	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs9916092	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs9916525	0.81[CEU][hapmap]
rs9916789	0.94[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530764	chr17:62939944-63278472	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:63160000-63180400	Weak transcription	Brain Substantia Nigra	brain
2	chr17:63169800-63190800	Weak transcription	Gastric	stomach
3	chr17:63170000-63180200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr17:63173600-63180000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr17:63174400-63180000	Weak transcription	Osteobl	bone
6	chr17:63176000-63180000	Weak transcription	NHLF	lung
7	chr17:63176000-63181000	Weak transcription	Fetal Kidney	kidney
8	chr17:63176200-63180400	Weak transcription	Brain Angular Gyrus	brain
9	chr17:63176200-63180400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr17:63176400-63180000	Weak transcription	Brain Anterior Caudate	brain
11	chr17:63176400-63223800	Weak transcription	Lung	lung
12	chr17:63176600-63180600	Enhancers	Primary T cells fromperipheralblood	blood
13	chr17:63178000-63181600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr17:63178400-63180600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr17:63178400-63181200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr17:63178400-63181200	Enhancers	HUVEC	blood vessel
17	chr17:63178800-63181400	Weak transcription	K562	blood
18	chr17:63178800-63182000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr17:63178800-63182200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr17:63179000-63180800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr17:63179000-63181000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr17:63179000-63183000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr17:63179200-63180600	Weak transcription	Dnd41	blood
24	chr17:63179200-63182000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr17:63179400-63180800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr17:63179400-63182200	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr17:63179400-63182600	Enhancers	H1 Cell Line	embryonic stem cell
28	chr17:63179600-63180600	Enhancers	Placenta	Placenta
29	chr17:63179600-63181000	Enhancers	Muscle Satellite Cultured Cells	--
30	chr17:63179600-63181200	Enhancers	Stomach Smooth Muscle	stomach
31	chr17:63179600-63181200	Enhancers	HSMM	muscle
32	chr17:63179600-63181400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr17:63179600-63181600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr17:63179600-63181600	Enhancers	HSMMtube	muscle
35	chr17:63179600-63182200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr17:63179600-63182200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr17:63179600-63182200	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr17:63179600-63182200	Enhancers	Fetal Brain Male	brain
39	chr17:63179600-63183000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr17:63179800-63180000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
41	chr17:63179800-63180000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr17:63179800-63180000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr17:63179800-63180000	Enhancers	Colonic Mucosa	Colon
44	chr17:63179800-63180000	Bivalent Enhancer	Fetal Stomach	stomach
45	chr17:63179800-63180000	Enhancers	A549	lung
46	chr17:63179800-63180200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr17:63179800-63180200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr17:63179800-63180200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr17:63179800-63180200	Enhancers	Aorta	Aorta
50	chr17:63179800-63180200	Enhancers	Fetal Muscle Leg	muscle

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