Variant report

Variant	rs10850
Chromosome Location	chr2:128063945-128063946
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:128061961..128064876-chr2:128150264..128151950,2	K562	blood:
2	chr2:128063086..128065825-chr2:128211149..128213069,2	MCF-7	breast:
3	chr2:128049778..128052003-chr2:128062638..128064302,2	K562	blood:

Variant related genes	Relation type
ENSG00000163161	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs1011019	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10496661	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	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11679414	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11680877	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11680949	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11683986	1.00[CHB][hapmap];0.83[YRI][hapmap];1.00[ASN][1000 genomes]
rs11691916	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11692990	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13030463	1.00[ASN][1000 genomes]
rs1504135	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1518760	1.00[ASN][1000 genomes]
rs1568278	1.00[ASN][1000 genomes]
rs17261845	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17261859	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2069895	1.00[ASN][1000 genomes]
rs2069898	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2069902	1.00[ASN][1000 genomes]
rs2069904	1.00[CHB][hapmap];0.86[LWK][hapmap];1.00[ASN][1000 genomes]
rs2069919	1.00[ASN][1000 genomes]
rs2679409	1.00[ASN][1000 genomes]
rs2896979	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs334143	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs334144	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs334146	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs334151	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs334152	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs334156	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs334157	1.00[ASN][1000 genomes]
rs334158	1.00[ASN][1000 genomes]
rs334159	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs334160	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs3732209	0.86[ASW][hapmap];0.81[CEU][hapmap];0.84[LWK][hapmap];0.86[MEX][hapmap];0.92[MKK][hapmap];0.94[TSI][hapmap];0.81[YRI][hapmap];0.87[EUR][1000 genomes]
rs3958415	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4150400	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4150402	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[GIH][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4150404	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4150416	1.00[ASN][1000 genomes]
rs4150421	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4150471	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4150474	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4150476	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4150499	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4150523	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4536600	0.81[MEX][hapmap]
rs4662713	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4662718	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4662719	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4662720	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.96[LWK][hapmap];0.93[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55998444	1.00[ASN][1000 genomes]
rs56273408	1.00[ASN][1000 genomes]
rs5937	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs59378658	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61422716	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62157508	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6430933	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6430936	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6430938	1.00[ASN][1000 genomes]
rs6731332	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6733478	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6738690	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6744237	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72845944	1.00[ASN][1000 genomes]
rs72845975	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72845976	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72845979	0.84[EUR][1000 genomes]
rs72845982	0.84[EUR][1000 genomes]
rs72845991	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72845993	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72845997	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72846002	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72848604	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72848612	1.00[ASN][1000 genomes]
rs72848615	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72848616	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72848618	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7556675	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7556756	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7562428	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7590030	0.86[ASW][hapmap];0.81[CEU][hapmap];0.84[LWK][hapmap];0.86[MEX][hapmap];0.92[MKK][hapmap];0.94[TSI][hapmap];0.81[YRI][hapmap];0.83[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs7607907	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs777569	1.00[CHB][hapmap];1.00[ASN][1000 genomes]

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs10850	ERCC3	cis	cerebellum	SCAN
rs10850	BIN1	cis	parietal	SCAN
rs10850	ERCC3	cis	parietal	SCAN
rs10850	ERCC3	cis	Adipose Subcutaneous	GTEx
rs10850	ERCC3	cis	Thyroid	GTEx
rs10850	ERCC3	cis	Nerve Tibial	GTEx
rs10850	ERCC3	cis	Esophagus Muscularis	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:128052000-128066200	Weak transcription	Spleen	Spleen
2	chr2:128052200-128065000	Weak transcription	Aorta	Aorta
3	chr2:128052200-128065000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr2:128052200-128066000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr2:128052200-128066200	Weak transcription	Small Intestine	intestine
6	chr2:128052400-128064800	Weak transcription	NH-A	brain
7	chr2:128052400-128065000	Weak transcription	Fetal Stomach	stomach
8	chr2:128052400-128070400	Weak transcription	Esophagus	oesophagus
9	chr2:128052400-128070800	Weak transcription	Colonic Mucosa	Colon
10	chr2:128052400-128071200	Weak transcription	Fetal Brain Male	brain
11	chr2:128052600-128064200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr2:128052600-128067200	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr2:128052600-128068400	Weak transcription	Right Ventricle	heart
14	chr2:128052800-128064000	Weak transcription	Fetal Kidney	kidney
15	chr2:128052800-128064000	Weak transcription	NHEK	skin
16	chr2:128052800-128066000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr2:128052800-128067600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr2:128052800-128070800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr2:128052800-128071000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr2:128052800-128071800	Weak transcription	NHLF	lung
21	chr2:128053000-128064600	Weak transcription	Hela-S3	cervix
22	chr2:128053000-128067400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr2:128053000-128070400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr2:128053000-128070800	Weak transcription	K562	blood
25	chr2:128053000-128071600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr2:128054000-128064600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr2:128058400-128065000	Weak transcription	Gastric	stomach
28	chr2:128058400-128065000	Weak transcription	Ovary	ovary
29	chr2:128058600-128085600	Strong transcription	Primary B cells from cord blood	blood
30	chr2:128059400-128082800	Strong transcription	Liver	Liver
31	chr2:128059400-128109600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:128059800-128093000	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr2:128061200-128077600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr2:128061400-128066200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr2:128061600-128098200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr2:128061800-128066200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr2:128061800-128067800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr2:128061800-128068000	Strong transcription	Primary hematopoietic stem cells	blood
39	chr2:128061800-128096800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr2:128062000-128065000	Weak transcription	Lung	lung
41	chr2:128062000-128066000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr2:128062000-128077600	Strong transcription	Fetal Intestine Large	intestine
43	chr2:128062000-128077800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr2:128062000-128083200	Strong transcription	Primary T cells from cord blood	blood
45	chr2:128062000-128085000	Strong transcription	Duodenum Mucosa	Duodenum
46	chr2:128062000-128086600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr2:128062200-128067800	Weak transcription	Fetal Intestine Small	intestine
48	chr2:128062400-128070800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr2:128062400-128094000	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr2:128062600-128065200	Genic enhancers	Primary neutrophils fromperipheralblood	blood

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