Variant report

Variant	rs12195366
Chromosome Location	chr6:131310513-131310514
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:131308949..131310665-chr6:131311371..131314257,2	K562	blood:
2	chr6:131304583..131308500-chr6:131310186..131313138,4	K562	blood:

Extended variants
information (count: 67 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10872375	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11154611	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11760051	0.93[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12196734	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12197829	0.93[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12203760	0.82[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs12214021	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1569195	0.96[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs17059954	1.00[CEU][hapmap];0.83[CHB][hapmap];0.82[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1976981	0.85[ASN][1000 genomes]
rs2151068	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2178282	0.86[ASN][1000 genomes]
rs28812545	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3734186	0.82[CHB][hapmap]
rs4259270	0.89[CEU][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4498389	0.82[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs62423583	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6901548	0.86[ASN][1000 genomes]
rs6902930	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6903705	0.86[ASN][1000 genomes]
rs6905151	0.88[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs6907809	0.83[CEU][hapmap];0.83[CHB][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs6916206	0.87[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs6921542	0.86[ASN][1000 genomes]
rs6926372	0.86[ASN][1000 genomes]
rs7763960	0.85[ASN][1000 genomes]
rs7770892	0.82[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs9321264	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9372986	0.81[ASN][1000 genomes]
rs9372987	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9372989	1.00[CEU][hapmap];0.95[CHB][hapmap];0.80[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9375776	0.86[JPT][hapmap]
rs9375784	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9375785	0.80[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9375787	0.93[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9375788	0.93[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9375789	0.93[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9375790	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9375794	0.82[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs9375795	0.91[CEU][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9375796	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9375797	0.82[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap];0.86[ASN][1000 genomes]
rs9388855	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs9388873	1.00[CEU][hapmap];0.96[CHB][hapmap];0.91[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9388876	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9388880	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9398967	0.93[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9398969	1.00[CEU][hapmap];0.91[CHB][hapmap];0.87[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9398970	0.86[ASN][1000 genomes]
rs9398971	0.82[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs9398972	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9398973	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9398975	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9398976	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9402287	0.86[JPT][hapmap]
rs9402301	0.94[ASN][1000 genomes]
rs9402306	0.96[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs9402310	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9402313	0.86[ASN][1000 genomes]
rs9402314	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9483210	0.82[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs9492790	0.83[ASN][1000 genomes]
rs9492792	0.82[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs951251	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs954919	0.83[CEU][hapmap];0.96[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032955	chr6:131298803-131818502	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv538443	chr6:131298803-131818502	Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12195366	EPB41L2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131298800-131314800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr6:131300400-131312200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr6:131300400-131314600	Weak transcription	Small Intestine	intestine
4	chr6:131303800-131315400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:131304000-131312600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr6:131304200-131313400	Weak transcription	K562	blood
7	chr6:131304400-131312200	Weak transcription	Fetal Stomach	stomach
8	chr6:131306800-131312200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr6:131306800-131313800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr6:131306800-131313800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr6:131306800-131315200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr6:131306800-131317000	Weak transcription	Fetal Intestine Small	intestine
13	chr6:131306800-131317200	Weak transcription	NHLF	lung
14	chr6:131306800-131317400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr6:131306800-131320000	Weak transcription	Left Ventricle	heart
16	chr6:131307200-131312200	Weak transcription	Fetal Lung	lung
17	chr6:131308000-131315400	Weak transcription	Lung	lung
18	chr6:131308600-131314400	Weak transcription	Dnd41	blood
19	chr6:131309000-131312200	Weak transcription	Fetal Kidney	kidney
20	chr6:131309200-131312000	Weak transcription	Ovary	ovary
21	chr6:131309200-131317200	Weak transcription	Adipose Nuclei	Adipose
22	chr6:131309600-131310600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr6:131309800-131311200	Enhancers	HepG2	liver
24	chr6:131310200-131311800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr6:131310400-131316800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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