Variant report

Variant	rs2306630
Chromosome Location	chr17:34182341-34182342
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:34176668..34179154-chr17:34179979..34183243,5	K562	blood:
2	chr16:68270603..68273017-chr17:34180159..34183008,2	MCF-7	breast:
3	chr17:34176668..34179154-chr17:34180851..34182410,2	K562	blood:

Variant related genes	Relation type
ENSG00000103067	Chromatin interaction
ENSG00000261469	Chromatin interaction

Extended variants
information (count: 90 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs11080359	0.80[TSI][hapmap]
rs11650409	0.89[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap]
rs11650668	0.87[ASN][1000 genomes]
rs11652192	0.85[EUR][1000 genomes]
rs11652536	0.88[CEU][hapmap]
rs11653051	0.89[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap]
rs11653282	1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11655533	0.89[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap]
rs11657908	0.89[GIH][hapmap];0.94[MEX][hapmap];0.95[TSI][hapmap]
rs11658222	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11868244	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[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];0.97[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.95[TSI][hapmap];0.88[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2014839	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2107538	0.80[CEU][hapmap];0.85[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2280789	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]
rs2291299	0.80[CEU][hapmap];0.85[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.92[ASN][1000 genomes]
rs28595279	0.91[ASN][1000 genomes]
rs3760326	0.90[EUR][1000 genomes]
rs3760327	0.95[ASN][1000 genomes]
rs3785764	1.00[CEU][hapmap];0.82[TSI][hapmap];0.85[EUR][1000 genomes]
rs3809769	0.88[CEU][hapmap];0.89[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs3817655	1.00[CEU][hapmap];0.90[CHB][hapmap];0.91[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.91[ASN][1000 genomes]
rs3817656	0.87[EUR][1000 genomes]
rs4079183	0.95[ASN][1000 genomes]
rs4251702	0.88[CEU][hapmap];0.90[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];0.97[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.95[TSI][hapmap];0.88[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4251724	0.95[JPT][hapmap]
rs4251729	0.82[EUR][1000 genomes]
rs4251737	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4251749	0.89[ASN][1000 genomes]
rs4251751	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
rs4251752	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
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];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4251787	0.95[ASN][1000 genomes]
rs4251788	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4251791	0.91[ASN][1000 genomes]
rs4325615	0.91[ASN][1000 genomes]
rs4795087	0.81[CHB][hapmap]
rs4795089	0.88[CEU][hapmap];0.90[TSI][hapmap]
rs4795090	0.95[JPT][hapmap]
rs4795091	0.82[EUR][1000 genomes]
rs4795092	0.82[EUR][1000 genomes]
rs4795093	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4795095	0.88[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4795096	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.91[TSI][hapmap];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4796107	0.88[CEU][hapmap];0.90[TSI][hapmap]
rs4796108	0.86[CEU][hapmap]
rs4796109	0.82[EUR][1000 genomes]
rs4796112	0.92[ASW][hapmap];0.88[CEU][hapmap];0.89[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4796113	0.85[EUR][1000 genomes]
rs4796114	0.82[EUR][1000 genomes]
rs4796115	0.88[CEU][hapmap];0.87[EUR][1000 genomes]
rs4796116	0.94[ASN][1000 genomes]
rs4796118	0.84[ASW][hapmap];0.89[GIH][hapmap];0.84[LWK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4796119	0.87[CEU][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes]
rs4796120	0.88[CEU][hapmap];0.89[GIH][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes]
rs4796123	1.00[CEU][hapmap];0.84[GIH][hapmap];0.82[LWK][hapmap];0.89[MEX][hapmap];0.91[TSI][hapmap];0.90[EUR][1000 genomes]
rs4796128	0.80[CEU][hapmap];0.90[CHB][hapmap];0.89[CHD][hapmap];0.95[JPT][hapmap];0.85[MEX][hapmap];0.86[ASN][1000 genomes]
rs55950249	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59247105	0.87[EUR][1000 genomes]
rs6505496	0.80[CEU][hapmap];0.95[JPT][hapmap]
rs7211393	0.88[ASN][1000 genomes]
rs7215845	0.84[ASN][1000 genomes]
rs8069014	0.82[ASN][1000 genomes]
rs8080959	0.87[ASN][1000 genomes]
rs9303691	0.92[ASW][hapmap];0.88[CEU][hapmap];0.89[GIH][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9303692	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9889274	0.95[TSI][hapmap]
rs9889874	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9894083	0.88[EUR][1000 genomes]
rs9898132	0.88[CEU][hapmap];0.89[GIH][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs9898152	0.92[ASW][hapmap];0.88[CEU][hapmap];0.89[GIH][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9899866	0.89[GIH][hapmap];0.95[TSI][hapmap]
rs9900236	0.89[GIH][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap]
rs9900473	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9900563	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9904675	0.89[GIH][hapmap];0.95[TSI][hapmap]
rs9907121	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9907295	0.89[GIH][hapmap];0.95[TSI][hapmap]
rs9907588	0.87[EUR][1000 genomes]
rs9908011	0.89[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap]
rs9908907	0.87[EUR][1000 genomes]
rs9908928	0.91[ASN][1000 genomes]
rs9909050	0.88[CEU][hapmap];0.89[GIH][hapmap];0.91[TSI][hapmap]
rs9909416	0.85[CEU][hapmap];0.88[CHB][hapmap];0.89[JPT][hapmap];0.87[YRI][hapmap];0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9911598	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9912552	0.85[EUR][1000 genomes]
rs9913488	0.89[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap]
rs9914401	0.92[ASW][hapmap];0.88[CEU][hapmap];0.89[GIH][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs2306630	RDM1	Cis_1M	lymphoblastoid	RTeQTL
rs2306630	CCL5	cis	lymphoblastoid	seeQTL
rs2306630	RDM1	cis	multi-tissue	Pritchard
rs2306630	RDM1	cis	Lymphoblastoid	GTEx
rs2306630	TAF15	Cis_1M	lymphoblastoid	RTeQTL
rs2306630	RDM1	cis	lymphoblastoid	seeQTL
rs2306630	RAD52B	cis	multi-tissue	Pritchard
rs2306630	TAF15	cis	normal skin	skin_eQTL

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:34138800-34184000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr17:34139200-34184200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr17:34161800-34186200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr17:34163800-34184600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr17:34170200-34192800	Weak transcription	Small Intestine	intestine
6	chr17:34171600-34182400	Weak transcription	Fetal Brain Male	brain
7	chr17:34172200-34183400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr17:34172200-34184000	Weak transcription	Colonic Mucosa	Colon
9	chr17:34172200-34193600	Weak transcription	Right Ventricle	heart
10	chr17:34172800-34183200	Weak transcription	Pancreas	Pancrea
11	chr17:34172800-34193600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr17:34173600-34182400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr17:34174400-34184200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr17:34174800-34182400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr17:34175000-34184400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr17:34175200-34182400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr17:34175400-34185000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr17:34175400-34186000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr17:34175400-34186400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr17:34175400-34192200	Weak transcription	Gastric	stomach
21	chr17:34175600-34182400	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr17:34175600-34186200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr17:34175600-34193000	Weak transcription	NH-A	brain
24	chr17:34175600-34193600	Weak transcription	Rectal Smooth Muscle	rectum
25	chr17:34175600-34202400	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr17:34175800-34182600	Weak transcription	Liver	Liver
27	chr17:34175800-34183200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr17:34175800-34187600	Weak transcription	Fetal Lung	lung
29	chr17:34176200-34190000	Weak transcription	Spleen	Spleen
30	chr17:34176400-34185400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr17:34176400-34192600	Weak transcription	Fetal Intestine Small	intestine
32	chr17:34176800-34193200	Weak transcription	Fetal Brain Female	brain
33	chr17:34177000-34183400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr17:34177000-34184000	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr17:34177200-34202400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr17:34177400-34182800	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr17:34177400-34183600	Weak transcription	Brain Cingulate Gyrus	brain
38	chr17:34177400-34184200	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr17:34177400-34184400	Weak transcription	Colon Smooth Muscle	Colon
40	chr17:34177400-34185000	Weak transcription	Brain Substantia Nigra	brain
41	chr17:34177400-34185800	Weak transcription	Primary B cells from cord blood	blood
42	chr17:34177400-34186400	Weak transcription	Brain Angular Gyrus	brain
43	chr17:34177400-34191000	Weak transcription	Brain Anterior Caudate	brain
44	chr17:34177400-34192200	Weak transcription	Lung	lung
45	chr17:34177400-34193000	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr17:34177400-34193200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr17:34177400-34193200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr17:34177400-34193200	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr17:34177400-34198400	Weak transcription	Primary B cells from peripheral blood	blood
50	chr17:34177600-34183000	Weak transcription	Brain Hippocampus Middle	brain

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