Variant report

Variant	rs8080959
Chromosome Location	chr17:34140454-34140455
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:25)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:25 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:34135622-34141134	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr17:34139884-34140614	HepG2	liver:	n/a	n/a
3	POLR2A	chr17:34140140-34140750	GM12892	blood:	n/a	n/a
4	POLR2A	chr17:34140368-34140613	HepG2	liver:	n/a	n/a
5	POLR2A	chr17:34140322-34140641	ECC-1	luminal epithelium:	n/a	n/a
6	POLR2A	chr17:34140437-34140906	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr17:34139736-34140808	SK-N-MC	brain:	n/a	n/a
8	POLR2A	chr17:34140251-34140697	K562	blood:	n/a	n/a
9	POLR2A	chr17:34140273-34140639	GM12891	blood:	n/a	n/a
10	POLR2A	chr17:34140242-34140549	GM12878	blood:	n/a	n/a
11	POLR2A	chr17:34140150-34140649	GM12892	blood:	n/a	n/a
12	POLR2A	chr17:34140368-34140640	GM12891	blood:	n/a	n/a
13	POLR2A	chr17:34139744-34140767	PANC-1	pancreas:	n/a	n/a
14	POLR2A	chr17:34140250-34140682	K562	blood:	n/a	n/a
15	POLR2A	chr17:34140340-34140727	HL-60	blood:	n/a	n/a
16	POLR2A	chr17:34139770-34140816	GM12892	blood:	n/a	n/a
17	POLR2A	chr17:34140264-34140650	GM12878	blood:	n/a	n/a
18	POLR2A	chr17:34140226-34140598	K562	blood:	n/a	n/a
19	POLR2A	chr17:34140117-34140482	HepG2	liver:	n/a	n/a
20	POLR2A	chr17:34139804-34140764	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr17:34140196-34140952	PFSK-1	brain:	n/a	n/a
22	POLR2A	chr17:34140197-34140643	GM12892	blood:	n/a	n/a
23	POLR2A	chr17:34140223-34140638	GM12891	blood:	n/a	n/a
24	POLR2A	chr17:34140275-34140918	GM12878	blood:	n/a	n/a
25	POLR2A	chr17:34139619-34141070	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:34099350..34101578-chr17:34139330..34141819,2	K562	blood:
2	chr17:34137709..34141485-chr17:34149369..34151902,3	MCF-7	breast:
3	chr17:34089535..34095936-chr17:34135210..34140609,14	MCF-7	breast:
4	chr17:34139263..34141332-chr17:34163653..34165497,2	K562	blood:
5	chr17:34138831..34141279-chr17:34143427..34145542,2	MCF-7	breast:
6	chr17:34138348..34140751-chr17:34159365..34161956,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000267347	TF binding region
ENSG00000267578	TF binding region
ENSG00000129270	Chromatin interaction
ENSG00000267347	Chromatin interaction
ENSG00000172660	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11650668	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11653282	0.81[ASN][1000 genomes]
rs11868244	0.81[ASN][1000 genomes]
rs11868785	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2107538	0.89[AFR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2280789	0.84[ASN][1000 genomes]
rs2291299	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2306630	0.87[ASN][1000 genomes]
rs28595279	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35517765	0.81[EUR][1000 genomes]
rs3760327	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3817655	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4079183	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4239252	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4251703	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4251710	0.89[AFR][1000 genomes]
rs4251719	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4251724	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4251737	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4251749	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4251769	0.87[ASN][1000 genomes]
rs4251787	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4251791	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4325615	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4795090	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4795093	0.87[ASN][1000 genomes]
rs4795096	0.82[ASN][1000 genomes]
rs4796116	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4796128	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55950249	0.80[ASN][1000 genomes]
rs6505496	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6505498	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7211393	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7215845	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8066406	0.82[EUR][1000 genomes]
rs8069014	0.92[AFR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9303692	0.85[ASN][1000 genomes]
rs9889874	0.84[ASN][1000 genomes]
rs9900563	0.82[ASN][1000 genomes]
rs9908928	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9909416	0.84[ASN][1000 genomes]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs8080959	TAF15	Cis_1M	lymphoblastoid	RTeQTL
rs8080959	RDM1	cis	multi-tissue	Pritchard
rs8080959	RDM1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:34137600-34141200	Weak transcription	Aorta	Aorta
2	chr17:34137600-34143400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr17:34137600-34149200	Weak transcription	Gastric	stomach
4	chr17:34137800-34142800	Weak transcription	Fetal Muscle Trunk	muscle
5	chr17:34137800-34142800	Weak transcription	Placenta	Placenta
6	chr17:34137800-34143600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr17:34137800-34143800	Weak transcription	Left Ventricle	heart
8	chr17:34137800-34144800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr17:34137800-34145000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr17:34137800-34149200	Weak transcription	Esophagus	oesophagus
11	chr17:34137800-34149800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr17:34137800-34152000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr17:34137800-34154000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr17:34138000-34140600	Weak transcription	Fetal Intestine Small	intestine
15	chr17:34138000-34141600	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr17:34138000-34143000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr17:34138000-34143000	Weak transcription	Fetal Muscle Leg	muscle
18	chr17:34138000-34144800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr17:34138000-34144800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr17:34138000-34145200	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr17:34138000-34146200	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr17:34138000-34146800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr17:34138000-34149600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr17:34138000-34153400	Weak transcription	Right Ventricle	heart
25	chr17:34138000-34164200	Weak transcription	Colonic Mucosa	Colon
26	chr17:34138200-34140600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr17:34138200-34141200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr17:34138200-34142800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr17:34138200-34143000	Weak transcription	Psoas Muscle	Psoas
30	chr17:34138200-34145800	Weak transcription	NHDF-Ad	bronchial
31	chr17:34138200-34149400	Weak transcription	HSMMtube	muscle
32	chr17:34138200-34149600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr17:34138200-34151600	Weak transcription	Fetal Heart	heart
34	chr17:34138400-34140600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr17:34138400-34140800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr17:34138400-34141400	Enhancers	Primary T cells from cord blood	blood
37	chr17:34138400-34142200	Weak transcription	Brain Angular Gyrus	brain
38	chr17:34138400-34142800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr17:34138400-34143000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr17:34138400-34143200	Weak transcription	NHLF	lung
41	chr17:34138400-34145200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr17:34138400-34146600	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr17:34138600-34140600	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr17:34138600-34180800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr17:34138800-34140600	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr17:34138800-34140600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr17:34138800-34140600	Enhancers	Small Intestine	intestine
48	chr17:34138800-34140800	Enhancers	Primary T cells fromperipheralblood	blood
49	chr17:34138800-34140800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr17:34138800-34142200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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