Variant report

Variant	rs7116195
Chromosome Location	chr11:85373668-85373669
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:85373065..85375528-chr11:88070607..88072114,2	K562	blood:
2	chr11:85372288..85375071-chr11:85778441..85780061,2	MCF-7	breast:
3	chr11:85372041..85373947-chr11:85520712..85522817,2	MCF-7	breast:
4	chr11:85371590..85374337-chr11:85533761..85535613,2	MCF-7	breast:
5	chr11:85335097..85341629-chr11:85372332..85377145,15	MCF-7	breast:
6	chr11:85337740..85341959-chr11:85373645..85377756,6	MCF-7	breast:
7	chr11:85372316..85374513-chr11:85398515..85401514,2	K562	blood:
8	chr11:85373450..85376919-chr11:85429977..85433486,3	K562	blood:
9	chr11:85371938..85377336-chr11:85519037..85522510,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000137501	Chromatin interaction
ENSG00000150672	Chromatin interaction
ENSG00000171204	Chromatin interaction
ENSG00000109861	Chromatin interaction
ENSG00000073921	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs1046216	0.94[ASW][hapmap];0.80[CEU][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];0.85[GIH][hapmap];0.91[JPT][hapmap];0.96[MEX][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11600919	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11603256	0.88[ASW][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.81[GIH][hapmap];0.95[JPT][hapmap];0.89[LWK][hapmap];0.87[MEX][hapmap];0.86[YRI][hapmap];0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11606688	0.86[ASN][1000 genomes]
rs11821005	0.82[ASN][1000 genomes]
rs1237203	0.89[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.85[JPT][hapmap];0.89[YRI][hapmap];0.87[ASN][1000 genomes]
rs1354397	0.81[CHB][hapmap]
rs17148293	0.90[AFR][1000 genomes]
rs2117312	0.87[ASN][1000 genomes]
rs2196168	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2290823	0.94[ASW][hapmap];0.85[LWK][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes]
rs290173	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs290179	0.82[CHB][hapmap];0.88[CHD][hapmap]
rs290180	0.86[CHB][hapmap];0.95[CHD][hapmap];0.80[GIH][hapmap];0.87[ASN][1000 genomes]
rs290181	0.86[ASN][1000 genomes]
rs290183	0.80[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs290184	1.00[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.83[MKK][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs290185	0.88[ASW][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.85[JPT][hapmap];0.93[YRI][hapmap];0.86[ASN][1000 genomes]
rs290190	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs290195	0.90[CHB][hapmap];0.86[JPT][hapmap]
rs290200	0.86[CHB][hapmap];0.85[CHD][hapmap];0.86[JPT][hapmap]
rs290202	0.91[CHB][hapmap];0.83[CHD][hapmap];0.91[JPT][hapmap]
rs35844123	0.87[AFR][1000 genomes]
rs370385	1.00[CHB][hapmap];0.90[JPT][hapmap];0.93[YRI][hapmap];0.92[ASN][1000 genomes]
rs3753050	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3781815	0.85[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[YRI][hapmap];0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs3817087	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3824956	1.00[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3862782	1.00[ASW][hapmap];0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4301809	0.80[ASN][1000 genomes]
rs431606	0.86[CHB][hapmap];0.95[CHD][hapmap];0.82[JPT][hapmap];0.80[MEX][hapmap];0.90[ASN][1000 genomes]
rs491867	0.86[CHB][hapmap];0.83[CHD][hapmap];0.90[JPT][hapmap]
rs4944526	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4944530	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs496187	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs522604	0.88[ASN][1000 genomes]
rs540063	0.86[JPT][hapmap]
rs550404	0.90[JPT][hapmap]
rs552013	0.92[ASN][1000 genomes]
rs556669	0.90[JPT][hapmap]
rs57296431	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs575050	0.82[CHB][hapmap]
rs57549298	0.85[ASN][1000 genomes]
rs580459	0.90[JPT][hapmap]
rs589327	0.84[CHB][hapmap];0.81[JPT][hapmap]
rs592460	1.00[CHB][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs597480	0.90[JPT][hapmap]
rs61114547	0.83[ASN][1000 genomes]
rs631410	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs641393	0.90[JPT][hapmap]
rs647912	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs679204	0.81[CHB][hapmap];0.89[JPT][hapmap]
rs680498	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs7107788	1.00[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7113528	0.83[ASN][1000 genomes]
rs7119617	0.94[ASW][hapmap];0.86[LWK][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes]
rs7122887	0.81[ASN][1000 genomes]
rs7925739	0.87[ASN][1000 genomes]
rs7943586	0.94[ASW][hapmap];0.81[LWK][hapmap];0.93[YRI][hapmap]
rs7948778	0.86[YRI][hapmap]
rs881120	0.83[ASW][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.90[JPT][hapmap];0.91[LWK][hapmap];0.90[MKK][hapmap];0.96[YRI][hapmap];0.92[ASN][1000 genomes]
rs956202	1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051155	chr11:85006564-85721261	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv541110	chr11:85006564-85721261	Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv898047	chr11:85180409-85377707	Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	esv2758279	chr11:85180480-85603988	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	esv2759845	chr11:85180480-85603988	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
6	nsv898048	chr11:85206156-85404138	Flanking Active TSS Genic enhancers Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7116195	TMEM126A	cis	multi-tissue	Pritchard

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85359400-85374000	Weak transcription	Esophagus	oesophagus
2	chr11:85360400-85374000	Weak transcription	Lung	lung
3	chr11:85360400-85374000	Weak transcription	Pancreas	Pancrea
4	chr11:85360400-85374200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:85362600-85374200	Weak transcription	Spleen	Spleen
6	chr11:85369400-85374200	Weak transcription	Stomach Mucosa	stomach
7	chr11:85370400-85374400	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr11:85370400-85374400	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr11:85370800-85374000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr11:85370800-85374800	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr11:85371400-85374000	Active TSS	Fetal Brain Female	brain
12	chr11:85371400-85374400	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr11:85371600-85375200	Transcr. at gene 5' and 3'	Dnd41	blood
14	chr11:85371800-85373800	Active TSS	K562	blood
15	chr11:85371800-85374400	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
16	chr11:85371800-85374600	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
17	chr11:85372000-85374000	Active TSS	Brain Inferior Temporal Lobe	brain
18	chr11:85372000-85374400	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
19	chr11:85372000-85374800	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
20	chr11:85372000-85375000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr11:85372000-85375200	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
22	chr11:85372000-85376600	Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr11:85372000-85376600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr11:85372200-85374800	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:85372200-85376600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr11:85372200-85376800	Active TSS	NHDF-Ad	bronchial
27	chr11:85372400-85376600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr11:85372600-85374000	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr11:85372600-85374000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr11:85372600-85374000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr11:85372600-85375400	Active TSS	Right Atrium	heart
32	chr11:85372600-85376400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr11:85372600-85376400	Active TSS	HSMMtube	muscle
34	chr11:85372600-85376600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr11:85372600-85376600	Active TSS	Stomach Smooth Muscle	stomach
36	chr11:85372600-85376600	Active TSS	HMEC	breast
37	chr11:85372800-85373800	Active TSS	NH-A	brain
38	chr11:85372800-85374000	Active TSS	Brain Cingulate Gyrus	brain
39	chr11:85372800-85374000	Active TSS	HepG2	liver
40	chr11:85372800-85376200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
41	chr11:85372800-85376400	Active TSS	iPS-18 Cell Line	embryonic stem cell
42	chr11:85372800-85376400	Active TSS	Muscle Satellite Cultured Cells	--
43	chr11:85372800-85376400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
44	chr11:85372800-85376400	Active TSS	Fetal Intestine Large	intestine
45	chr11:85372800-85376400	Active TSS	Hela-S3	cervix
46	chr11:85372800-85376400	Active TSS	HSMM	muscle
47	chr11:85372800-85376600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr11:85372800-85376600	Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr11:85372800-85376800	Active TSS	iPS-15b Cell Line	embryonic stem cell
50	chr11:85372800-85376800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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