Variant report

Variant	rs11691088
Chromosome Location	chr2:128131853-128131854
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:128128959..128132166-chr2:128135753..128139154,3	MCF-7	breast:
2	chr2:128131816..128133324-chr2:128137247..128139883,2	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1011019	0.81[CEU][hapmap];0.81[YRI][hapmap]
rs10209483	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10496661	0.81[CEU][hapmap];0.81[YRI][hapmap];0.81[AFR][1000 genomes]
rs10850	0.81[CEU][hapmap];0.81[YRI][hapmap]
rs11541137	0.83[EUR][1000 genomes]
rs11679414	1.00[CEU][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11680877	0.81[AFR][1000 genomes]
rs11680949	0.85[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11691916	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs11692990	0.80[AFR][1000 genomes]
rs12105051	0.85[AMR][1000 genomes]
rs13030284	0.82[ASN][1000 genomes]
rs1604817	0.87[CEU][hapmap]
rs2069894	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2069898	0.87[CEU][hapmap];0.81[YRI][hapmap]
rs2069904	0.86[CEU][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes]
rs3732209	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3817088	1.00[JPT][hapmap]
rs41280570	0.81[AFR][1000 genomes]
rs4150402	0.81[CEU][hapmap];0.81[YRI][hapmap]
rs4150436	1.00[JPT][hapmap]
rs4150452	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4150466	1.00[JPT][hapmap]
rs4150471	0.80[YRI][hapmap]
rs4536600	0.87[CEU][hapmap]
rs4662718	0.81[CEU][hapmap]
rs4662720	0.81[CEU][hapmap];0.81[YRI][hapmap]
rs56291216	0.89[ASN][1000 genomes]
rs59378658	0.87[EUR][1000 genomes]
rs61422716	0.81[AFR][1000 genomes]
rs6430938	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6757492	0.85[AMR][1000 genomes]
rs72845979	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72845982	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72845991	0.81[AFR][1000 genomes]
rs72846002	0.80[AFR][1000 genomes]
rs72848604	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72848615	0.80[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs72848616	0.87[EUR][1000 genomes]
rs72848618	0.87[EUR][1000 genomes]
rs73953605	0.89[ASN][1000 genomes]
rs73956517	0.89[ASN][1000 genomes]
rs73956522	0.89[ASN][1000 genomes]
rs73956525	0.89[ASN][1000 genomes]
rs73956526	0.89[ASN][1000 genomes]
rs7556675	0.81[CEU][hapmap];0.81[YRI][hapmap]
rs7590030	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7607907	0.81[CEU][hapmap];0.86[EUR][1000 genomes]
rs8179521	1.00[JPT][hapmap];0.89[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11691088	ERCC3	cis	Esophagus Muscularis	GTEx
rs11691088	ERCC3	cis	Nerve Tibial	GTEx

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:128107800-128140200	Weak transcription	Gastric	stomach
2	chr2:128109800-128134000	Weak transcription	Lung	lung
3	chr2:128120800-128139200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:128120800-128142000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:128121200-128135200	Weak transcription	Osteobl	bone
6	chr2:128122200-128142200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr2:128123400-128135200	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr2:128123400-128137600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr2:128123400-128140400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr2:128123400-128144200	Weak transcription	Colonic Mucosa	Colon
11	chr2:128124000-128140000	Weak transcription	Left Ventricle	heart
12	chr2:128124400-128136200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr2:128125800-128136400	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr2:128127200-128132000	ZNF genes & repeats	Primary B cells from cord blood	blood
15	chr2:128127200-128135600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr2:128127200-128136000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:128127400-128134800	ZNF genes & repeats	Fetal Intestine Small	intestine
18	chr2:128128000-128134000	Weak transcription	Ovary	ovary
19	chr2:128128000-128144000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr2:128128000-128144000	Weak transcription	Rectal Smooth Muscle	rectum
21	chr2:128128400-128142200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr2:128128600-128140000	Weak transcription	Aorta	Aorta
23	chr2:128128800-128132200	ZNF genes & repeats	Primary T cells from cord blood	blood
24	chr2:128128800-128132600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr2:128129400-128135200	Weak transcription	NHDF-Ad	bronchial
26	chr2:128129600-128135200	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr2:128129800-128140200	Weak transcription	Right Ventricle	heart
28	chr2:128130200-128137400	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr2:128130600-128132400	ZNF genes & repeats	Fetal Lung	lung
30	chr2:128130600-128133200	Weak transcription	Psoas Muscle	Psoas
31	chr2:128130600-128133600	Weak transcription	Colon Smooth Muscle	Colon
32	chr2:128131000-128132000	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
33	chr2:128131200-128135600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr2:128131400-128132000	ZNF genes & repeats	A549	lung
35	chr2:128131400-128132200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
36	chr2:128131400-128132200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
37	chr2:128131400-128132600	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr2:128131600-128132000	Enhancers	HepG2	liver
39	chr2:128131600-128133200	Weak transcription	Dnd41	blood
40	chr2:128131600-128134000	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr2:128131800-128132000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
42	chr2:128131800-128132800	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr2:128131800-128133800	Weak transcription	Liver	Liver
44	chr2:128131800-128134200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr2:128131800-128134200	Weak transcription	Fetal Heart	heart
46	chr2:128131800-128137400	Weak transcription	Duodenum Mucosa	Duodenum
47	chr2:128131800-128139200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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