Variant report

Variant	rs4795092
Chromosome Location	chr17:34141971-34141972
allele	G/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	chr17:34141677-34142249	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr17:34141744-34142865	PFSK-1	brain:	n/a	n/a
3	POLR2A	chr17:34141601-34142858	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr17:34141805-34143250	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:34134673..34137724-chr17:34141957..34146258,6	MCF-7	breast:

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

Extended variants
information (count: 109 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:109)

rs_ID	r²[population]
rs11080360	0.90[ASN][1000 genomes]
rs11080361	0.90[ASN][1000 genomes]
rs11080362	0.90[ASN][1000 genomes]
rs11650409	0.90[ASN][1000 genomes]
rs11652192	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11652536	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11653016	0.90[ASN][1000 genomes]
rs11653051	0.90[ASN][1000 genomes]
rs11653204	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11655533	0.90[ASN][1000 genomes]
rs11656556	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11657908	0.90[ASN][1000 genomes]
rs11658222	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11868785	0.90[EUR][1000 genomes]
rs11868801	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11869976	0.90[ASN][1000 genomes]
rs16971670	0.90[ASN][1000 genomes]
rs2014839	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2107540	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2306630	0.82[EUR][1000 genomes]
rs28550999	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28739295	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28912068	0.92[ASN][1000 genomes]
rs3760326	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3760447	0.92[ASN][1000 genomes]
rs3785764	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3809769	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3817656	0.85[AFR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4251702	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4251719	0.90[EUR][1000 genomes]
rs4251727	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4251729	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4251737	0.90[EUR][1000 genomes]
rs4251751	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4251752	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4251769	0.85[EUR][1000 genomes]
rs4251788	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4795088	0.82[AMR][1000 genomes]
rs4795089	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4795091	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4795093	0.82[EUR][1000 genomes]
rs4795095	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4795099	0.88[ASN][1000 genomes]
rs4795100	0.90[ASN][1000 genomes]
rs4796107	0.80[ASN][1000 genomes]
rs4796108	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4796109	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4796112	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4796113	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4796114	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4796115	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4796118	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4796119	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4796120	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4796123	0.90[ASN][1000 genomes]
rs4796124	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4796125	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4796126	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4796127	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4796129	0.84[EUR][1000 genomes]
rs4796130	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4796131	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56294660	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56344830	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59247105	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59338510	0.91[ASN][1000 genomes]
rs9303691	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9303693	0.90[ASN][1000 genomes]
rs9789051	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9889274	0.90[ASN][1000 genomes]
rs9889977	0.90[ASN][1000 genomes]
rs9891064	0.90[ASN][1000 genomes]
rs9893004	0.90[ASN][1000 genomes]
rs9894083	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9894314	0.90[ASN][1000 genomes]
rs9894799	0.90[ASN][1000 genomes]
rs9896265	0.89[ASN][1000 genomes]
rs9896658	0.90[ASN][1000 genomes]
rs9897665	0.90[ASN][1000 genomes]
rs9898132	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9898152	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9899215	0.90[ASN][1000 genomes]
rs9899866	0.90[ASN][1000 genomes]
rs9899870	0.90[ASN][1000 genomes]
rs9900236	0.90[ASN][1000 genomes]
rs9900473	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9901195	0.90[ASN][1000 genomes]
rs9901418	0.90[ASN][1000 genomes]
rs9903590	0.90[ASN][1000 genomes]
rs9904675	0.85[ASN][1000 genomes]
rs9907121	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9907145	0.90[ASN][1000 genomes]
rs9907295	0.83[ASN][1000 genomes]
rs9907588	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9908011	0.90[ASN][1000 genomes]
rs9908525	0.90[ASN][1000 genomes]
rs9908907	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9909050	0.91[ASN][1000 genomes]
rs9911016	0.90[ASN][1000 genomes]
rs9911598	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9912049	0.90[ASN][1000 genomes]
rs9912284	0.90[ASN][1000 genomes]
rs9912552	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9912571	0.90[ASN][1000 genomes]
rs9912793	0.90[ASN][1000 genomes]
rs9912894	0.90[ASN][1000 genomes]
rs9913488	0.90[ASN][1000 genomes]
rs9914401	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9914468	0.90[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4795092	RDM1	Cis_1M	lymphoblastoid	RTeQTL
rs4795092	TAF15	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:34137600-34143400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr17:34137600-34149200	Weak transcription	Gastric	stomach
3	chr17:34137800-34142800	Weak transcription	Fetal Muscle Trunk	muscle
4	chr17:34137800-34142800	Weak transcription	Placenta	Placenta
5	chr17:34137800-34143600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr17:34137800-34143800	Weak transcription	Left Ventricle	heart
7	chr17:34137800-34144800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr17:34137800-34145000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr17:34137800-34149200	Weak transcription	Esophagus	oesophagus
10	chr17:34137800-34149800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr17:34137800-34152000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr17:34137800-34154000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr17:34138000-34143000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr17:34138000-34143000	Weak transcription	Fetal Muscle Leg	muscle
15	chr17:34138000-34144800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr17:34138000-34144800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr17:34138000-34145200	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr17:34138000-34146200	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr17:34138000-34146800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr17:34138000-34149600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr17:34138000-34153400	Weak transcription	Right Ventricle	heart
22	chr17:34138000-34164200	Weak transcription	Colonic Mucosa	Colon
23	chr17:34138200-34142800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr17:34138200-34143000	Weak transcription	Psoas Muscle	Psoas
25	chr17:34138200-34145800	Weak transcription	NHDF-Ad	bronchial
26	chr17:34138200-34149400	Weak transcription	HSMMtube	muscle
27	chr17:34138200-34149600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr17:34138200-34151600	Weak transcription	Fetal Heart	heart
29	chr17:34138400-34142200	Weak transcription	Brain Angular Gyrus	brain
30	chr17:34138400-34142800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr17:34138400-34143000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr17:34138400-34143200	Weak transcription	NHLF	lung
33	chr17:34138400-34145200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr17:34138400-34146600	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr17:34138600-34180800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr17:34138800-34142200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr17:34138800-34143000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr17:34138800-34144400	Weak transcription	Primary hematopoietic stem cells	blood
39	chr17:34138800-34144600	Weak transcription	Duodenum Mucosa	Duodenum
40	chr17:34138800-34184000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr17:34139000-34142000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr17:34139000-34142200	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr17:34139000-34144200	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr17:34139000-34144800	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr17:34139000-34146200	Weak transcription	NH-A	brain
46	chr17:34139200-34142000	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr17:34139200-34142400	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr17:34139200-34142400	Weak transcription	Fetal Thymus	thymus
49	chr17:34139200-34143000	Weak transcription	Brain Germinal Matrix	brain
50	chr17:34139200-34143000	Weak transcription	Fetal Brain Female	brain

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