Variant report

Variant	rs10496661
Chromosome Location	chr2:128090144-128090145
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:128082404..128085126-chr2:128090026..128092867,2	MCF-7	breast:
2	chr2:128089106..128091546-chr2:128093212..128095621,2	K562	blood:

Extended variants
information (count: 88 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs1011019	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10850	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11541137	0.90[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs11679414	0.85[CEU][hapmap];0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11680877	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11680949	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11683986	0.83[YRI][hapmap];1.00[ASN][1000 genomes]
rs11691088	0.81[AFR][1000 genomes]
rs11691916	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11692990	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13030463	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1504135	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1518760	1.00[ASN][1000 genomes]
rs1568278	1.00[ASN][1000 genomes]
rs17261845	1.00[ASN][1000 genomes]
rs17261859	1.00[ASN][1000 genomes]
rs1864554	1.00[ASN][1000 genomes]
rs2069895	1.00[ASN][1000 genomes]
rs2069898	1.00[ASN][1000 genomes]
rs2069902	1.00[ASN][1000 genomes]
rs2069904	0.89[LWK][hapmap];0.83[MKK][hapmap];1.00[ASN][1000 genomes]
rs2069919	1.00[ASN][1000 genomes]
rs2460106	1.00[ASN][1000 genomes]
rs2679409	1.00[ASN][1000 genomes]
rs2896979	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs334137	1.00[ASN][1000 genomes]
rs334138	1.00[ASN][1000 genomes]
rs334143	1.00[ASN][1000 genomes]
rs334144	1.00[ASN][1000 genomes]
rs334146	1.00[ASN][1000 genomes]
rs334151	1.00[ASN][1000 genomes]
rs334152	1.00[ASN][1000 genomes]
rs334156	1.00[ASN][1000 genomes]
rs334157	1.00[ASN][1000 genomes]
rs334158	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs334159	1.00[ASN][1000 genomes]
rs334160	1.00[ASN][1000 genomes]
rs3732209	0.86[ASW][hapmap];0.81[CEU][hapmap];0.80[LWK][hapmap];0.86[MEX][hapmap];0.94[TSI][hapmap];0.81[YRI][hapmap];0.86[EUR][1000 genomes]
rs3958415	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4150400	1.00[ASN][1000 genomes]
rs4150402	1.00[ASW][hapmap];1.00[CEU][hapmap];0.97[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4150404	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4150416	1.00[ASN][1000 genomes]
rs4150421	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4150471	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4150474	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4150476	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4150499	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4150523	1.00[ASN][1000 genomes]
rs4662713	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4662718	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4662719	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4662720	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.93[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55998444	1.00[ASN][1000 genomes]
rs56273408	1.00[ASN][1000 genomes]
rs5937	1.00[ASN][1000 genomes]
rs59378658	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61422716	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62157508	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs6430933	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6430936	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6430938	1.00[ASN][1000 genomes]
rs6731332	0.90[EUR][1000 genomes]
rs6733478	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6738690	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6744237	0.90[EUR][1000 genomes]
rs72845944	1.00[ASN][1000 genomes]
rs72845975	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72845976	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72845979	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs72845982	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs72845991	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72845993	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72845997	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72846002	0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72848604	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72848612	1.00[ASN][1000 genomes]
rs72848615	0.99[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72848616	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72848618	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7556675	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7556756	0.89[EUR][1000 genomes]
rs7562428	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7582598	1.00[ASN][1000 genomes]
rs7590030	0.86[ASW][hapmap];0.81[CEU][hapmap];0.80[LWK][hapmap];0.86[MEX][hapmap];0.94[TSI][hapmap];0.81[YRI][hapmap];0.86[EUR][1000 genomes]
rs7607907	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs777554	1.00[ASN][1000 genomes]
rs777569	1.00[ASN][1000 genomes]

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs10496661	ERCC3	cis	parietal	SCAN
rs10496661	BIN1	cis	parietal	SCAN
rs10496661	ERCC3	cis	Thyroid	GTEx
rs10496661	ERCC3	cis	cerebellum	SCAN
rs10496661	ERCC3	cis	Adipose Subcutaneous	GTEx
rs10496661	ERCC3	cis	Esophagus Muscularis	GTEx
rs10496661	ERCC3	cis	Nerve Tibial	GTEx

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:128059400-128109600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:128059800-128093000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:128061600-128098200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr2:128061800-128096800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr2:128062400-128094000	Strong transcription	Rectal Mucosa Donor 29	rectum
6	chr2:128062800-128098000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr2:128063400-128098400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:128063600-128091800	Strong transcription	Placenta	Placenta
9	chr2:128065000-128100200	Weak transcription	Stomach Mucosa	stomach
10	chr2:128066400-128090600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr2:128068200-128092200	Weak transcription	Pancreas	Pancrea
12	chr2:128069000-128117000	Weak transcription	Small Intestine	intestine
13	chr2:128072200-128098200	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr2:128072200-128101400	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr2:128072200-128109600	Weak transcription	Esophagus	oesophagus
16	chr2:128072200-128111800	Weak transcription	K562	blood
17	chr2:128072600-128112000	Weak transcription	NHEK	skin
18	chr2:128074800-128106800	Weak transcription	Spleen	Spleen
19	chr2:128076000-128095400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr2:128076600-128102800	Weak transcription	Hela-S3	cervix
21	chr2:128077000-128094000	Weak transcription	Gastric	stomach
22	chr2:128077000-128116200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr2:128077200-128122800	Weak transcription	Aorta	Aorta
24	chr2:128078200-128093400	Strong transcription	Dnd41	blood
25	chr2:128078400-128097400	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr2:128078600-128096200	Strong transcription	Fetal Thymus	thymus
27	chr2:128078600-128096400	Strong transcription	Fetal Intestine Large	intestine
28	chr2:128078600-128109600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr2:128078800-128092400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr2:128078800-128095600	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr2:128078800-128096800	Strong transcription	Primary B cells from peripheral blood	blood
32	chr2:128078800-128105400	Weak transcription	HSMMtube	muscle
33	chr2:128079200-128094800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr2:128079200-128096600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr2:128079200-128097000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr2:128079200-128098000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr2:128079400-128107800	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr2:128079600-128099000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr2:128079800-128091200	Weak transcription	Brain Hippocampus Middle	brain
40	chr2:128079800-128091800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr2:128079800-128092800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr2:128079800-128097600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr2:128079800-128098400	Weak transcription	Fetal Brain Male	brain
44	chr2:128079800-128101200	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr2:128079800-128101800	Weak transcription	HMEC	breast
46	chr2:128079800-128107600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr2:128079800-128114600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr2:128081200-128091200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr2:128081200-128101200	Weak transcription	Brain Germinal Matrix	brain
50	chr2:128081400-128101600	Weak transcription	Placenta Amnion	Placenta Amnion

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