Variant report

Variant	rs2280789
Chromosome Location	chr17:34207003-34207004
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 123 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:123)

rs_ID	r²[population]
rs11080360	0.84[EUR][1000 genomes]
rs11080361	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11080362	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11650409	0.89[GIH][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11650668	0.84[ASN][1000 genomes]
rs11652536	0.88[CEU][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11653016	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11653051	0.89[GIH][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11653204	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11653282	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11655533	0.89[GIH][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11656556	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11657908	0.89[GIH][hapmap];0.94[MEX][hapmap];0.86[TSI][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11868244	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11868785	0.92[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.86[TSI][hapmap];0.83[YRI][hapmap];0.82[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs11868801	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11869976	0.82[EUR][1000 genomes]
rs16971670	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2014839	0.80[AFR][1000 genomes]
rs2107538	0.80[CEU][hapmap];0.85[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2107540	0.87[EUR][1000 genomes]
rs2291299	0.80[CEU][hapmap];0.85[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.91[ASN][1000 genomes]
rs2306630	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.91[TSI][hapmap];0.94[YRI][hapmap];0.91[AFR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28550999	0.87[EUR][1000 genomes]
rs28595279	0.85[ASN][1000 genomes]
rs28739295	0.87[EUR][1000 genomes]
rs28912068	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3760327	0.88[ASN][1000 genomes]
rs3760447	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3785764	1.00[CEU][hapmap]
rs3809769	0.88[CEU][hapmap];0.89[GIH][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];0.91[TSI][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3817655	1.00[CEU][hapmap];0.90[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.92[ASN][1000 genomes]
rs4079183	0.88[ASN][1000 genomes]
rs4251702	0.88[CEU][hapmap];0.81[TSI][hapmap]
rs4251703	0.90[JPT][hapmap]
rs4251719	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.86[TSI][hapmap];0.83[YRI][hapmap];0.82[AFR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4251724	0.95[JPT][hapmap]
rs4251737	0.82[AFR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4251749	0.83[ASN][1000 genomes]
rs4251751	0.88[CEU][hapmap]
rs4251752	0.88[CEU][hapmap]
rs4251769	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.86[TSI][hapmap];0.94[YRI][hapmap];0.89[AFR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4251787	0.88[ASN][1000 genomes]
rs4251791	0.83[ASN][1000 genomes]
rs4325615	0.85[ASN][1000 genomes]
rs4795087	0.81[CHB][hapmap]
rs4795089	0.88[CEU][hapmap];0.81[TSI][hapmap]
rs4795090	0.95[JPT][hapmap]
rs4795093	0.89[AFR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4795095	0.88[CEU][hapmap];0.94[YRI][hapmap];0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs4795096	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.94[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4795097	0.84[EUR][1000 genomes]
rs4795099	0.84[AMR][1000 genomes]
rs4795100	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4796107	0.88[CEU][hapmap];0.81[TSI][hapmap]
rs4796108	0.86[CEU][hapmap]
rs4796112	0.92[ASW][hapmap];0.88[CEU][hapmap];0.89[GIH][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.86[TSI][hapmap];0.94[YRI][hapmap];0.85[AFR][1000 genomes]
rs4796115	0.88[CEU][hapmap]
rs4796116	0.86[ASN][1000 genomes]
rs4796118	0.84[ASW][hapmap];0.89[GIH][hapmap];0.91[TSI][hapmap];0.94[YRI][hapmap];0.82[AFR][1000 genomes]
rs4796119	0.87[CEU][hapmap];0.91[TSI][hapmap]
rs4796120	0.88[CEU][hapmap];0.89[GIH][hapmap];0.91[TSI][hapmap];0.82[EUR][1000 genomes]
rs4796123	1.00[CEU][hapmap];0.84[GIH][hapmap];0.94[LWK][hapmap];0.89[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4796124	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4796125	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4796126	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4796127	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4796128	0.80[CEU][hapmap];0.90[CHB][hapmap];0.94[CHD][hapmap];0.95[JPT][hapmap];0.85[MEX][hapmap];0.94[ASN][1000 genomes]
rs4796129	0.82[EUR][1000 genomes]
rs4796130	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4796131	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55950249	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56294660	0.87[EUR][1000 genomes]
rs56344830	0.86[EUR][1000 genomes]
rs59338510	0.90[EUR][1000 genomes]
rs6505496	0.80[CEU][hapmap];0.95[JPT][hapmap]
rs7211393	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7215845	0.91[ASN][1000 genomes]
rs8069014	0.82[ASN][1000 genomes]
rs8080959	0.84[ASN][1000 genomes]
rs9303691	0.92[ASW][hapmap];0.88[CEU][hapmap];0.89[GIH][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.91[TSI][hapmap];0.94[YRI][hapmap];0.89[AFR][1000 genomes]
rs9303692	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.91[TSI][hapmap];0.94[YRI][hapmap];0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9303693	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9789051	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9889274	0.86[TSI][hapmap];0.84[EUR][1000 genomes]
rs9889874	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.91[TSI][hapmap];0.94[YRI][hapmap];0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9889977	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9891064	0.84[EUR][1000 genomes]
rs9893004	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9894314	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9894799	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9896265	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9896658	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9897665	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9898132	0.88[CEU][hapmap];0.89[GIH][hapmap];0.91[TSI][hapmap]
rs9898152	0.92[ASW][hapmap];0.88[CEU][hapmap];0.89[GIH][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.94[YRI][hapmap];0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs9899215	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9899866	0.89[GIH][hapmap];0.86[TSI][hapmap];0.84[EUR][1000 genomes]
rs9899870	0.84[EUR][1000 genomes]
rs9900236	0.89[GIH][hapmap];0.95[MEX][hapmap];0.86[TSI][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9900563	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9901195	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9901418	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9903590	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9904675	0.89[GIH][hapmap];0.86[TSI][hapmap];0.82[EUR][1000 genomes]
rs9907121	0.85[AFR][1000 genomes]
rs9907145	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9907295	0.89[GIH][hapmap];0.86[TSI][hapmap];0.82[EUR][1000 genomes]
rs9908011	0.89[GIH][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9908525	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9908928	0.89[ASN][1000 genomes]
rs9909050	0.88[CEU][hapmap];0.89[GIH][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs9909416	0.85[CEU][hapmap];0.88[CHB][hapmap];0.89[JPT][hapmap];0.80[YRI][hapmap];0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9911016	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9912049	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9912284	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9912552	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9912571	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9912793	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9912894	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9913488	0.89[GIH][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9914401	0.92[ASW][hapmap];0.88[CEU][hapmap];0.89[GIH][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.94[YRI][hapmap];0.82[AFR][1000 genomes]
rs9914468	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs2280789	TAF15	Cis_1M	lymphoblastoid	RTeQTL
rs2280789	TAF15	cis	normal skin	skin_eQTL
rs2280789	RDM1	cis	multi-tissue	Pritchard
rs2280789	CCL5	cis	lymphoblastoid	seeQTL
rs2280789	RDM1	cis	Lymphoblastoid	GTEx
rs2280789	RAD52B	cis	multi-tissue	Pritchard
rs2280789	RDM1	cis	lymphoblastoid	seeQTL
rs2280789	RDM1	Cis_1M	lymphoblastoid	RTeQTL
rs2280789	ENSG00000161570	cis	multi-tissue	Pritchard

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:34192200-34218000	Weak transcription	Stomach Smooth Muscle	stomach
2	chr17:34192400-34213200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr17:34199200-34207200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr17:34202600-34207800	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr17:34203800-34207800	Active TSS	Primary T helper naive cells from peripheral blood	blood
6	chr17:34204000-34207200	Active TSS	Primary T cells fromperipheralblood	blood
7	chr17:34204000-34207200	Weak transcription	Right Atrium	heart
8	chr17:34204400-34207600	Active TSS	Primary T killer memory cells from peripheral blood	blood
9	chr17:34204800-34207400	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
10	chr17:34205000-34207600	Active TSS	Duodenum Mucosa	Duodenum
11	chr17:34205600-34207800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
12	chr17:34205800-34207600	Active TSS	Primary T helper cells fromperipheralblood	blood
13	chr17:34205800-34207600	Enhancers	K562	blood
14	chr17:34206200-34207600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
15	chr17:34206600-34207400	Enhancers	NHEK	skin
16	chr17:34206800-34207200	Enhancers	Primary B cells from peripheral blood	blood
17	chr17:34206800-34207200	Active TSS	Fetal Muscle Leg	muscle
18	chr17:34206800-34207200	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr17:34206800-34207400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr17:34206800-34207800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
21	chr17:34206800-34208000	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr17:34206800-34208000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
23	chr17:34206800-34208000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr17:34206800-34208000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr17:34206800-34208000	Enhancers	Placenta	Placenta
26	chr17:34206800-34208000	Flanking Active TSS	GM12878-XiMat	blood
27	chr17:34207000-34207400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
28	chr17:34207000-34207400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr17:34207000-34207400	Enhancers	Adipose Nuclei	Adipose
30	chr17:34207000-34207400	Active TSS	Colonic Mucosa	Colon
31	chr17:34207000-34207400	Active TSS	Rectal Mucosa Donor 31	rectum
32	chr17:34207000-34207400	Bivalent Enhancer	HepG2	liver
33	chr17:34207000-34207600	Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr17:34207000-34207600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr17:34207000-34207600	Enhancers	Spleen	Spleen
36	chr17:34207000-34207600	Enhancers	Hela-S3	cervix
37	chr17:34207000-34207800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr17:34207000-34207800	Enhancers	Fetal Thymus	thymus
39	chr17:34207000-34208000	Enhancers	HUVEC	blood vessel

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