Variant report

Variant	rs7761311
Chromosome Location	chr6:131311108-131311109
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	chr6:131304583..131308500-chr6:131310186..131313138,4	K562	blood:
2	chr6:131301483..131303877-chr6:131310985..131313836,2	MCF-7	breast:

Extended variants
information (count: 52 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs13437326	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs17178878	0.82[ASN][1000 genomes]
rs17179123	0.82[ASN][1000 genomes]
rs17180687	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs17770255	1.00[JPT][hapmap]
rs17784418	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs17785507	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1811949	0.84[CEU][hapmap];0.82[CHB][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs1977576	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2095961	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2297853	0.88[CEU][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs28482889	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs34899420	0.82[ASN][1000 genomes]
rs45550834	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4895901	0.82[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs4895903	0.82[CHB][hapmap]
rs4895907	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs4895908	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs4897473	1.00[JPT][hapmap]
rs4897478	0.82[ASN][1000 genomes]
rs4897483	0.95[ASN][1000 genomes]
rs4897484	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs4897485	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4897492	0.89[ASN][1000 genomes]
rs58503799	0.95[ASN][1000 genomes]
rs62423597	1.00[ASN][1000 genomes]
rs62423598	0.82[ASN][1000 genomes]
rs6906478	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap]
rs6910656	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6921396	0.84[CEU][hapmap];0.82[CHB][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap]
rs6922045	0.87[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs6922177	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6926250	0.82[CHB][hapmap]
rs6928920	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs6931804	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs6935108	1.00[JPT][hapmap]
rs7741148	0.84[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs7769678	0.84[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs7771543	0.81[EUR][1000 genomes]
rs872576	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs9321263	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9372985	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9375791	0.81[TSI][hapmap];0.83[EUR][1000 genomes]
rs9385568	0.82[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs9388872	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9402303	0.80[EUR][1000 genomes]
rs942	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs9483206	1.00[JPT][hapmap]
rs9492774	0.88[CEU][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs954211	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.95[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7761311	EPB41L2	Cis_1M	lymphoblastoid	RTeQTL
rs7761311	EPB41L2	cis	parietal	SCAN

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	chr6:131309800-131311200	Enhancers	HepG2	liver
23	chr6:131310200-131311800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr6:131310400-131316800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr6:131310600-131312200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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