Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:141376839..141379290-chr3:141593720..141595646,2	MCF-7	breast:
2	chr3:141377266..141379551-chr3:141385595..141387849,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000069849	Chromatin interaction

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10935431	0.92[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12632759	0.81[JPT][hapmap]
rs13060724	0.98[ASN][1000 genomes]
rs13065795	0.86[ASN][1000 genomes]
rs13067655	0.96[ASN][1000 genomes]
rs13072110	0.87[ASN][1000 genomes]
rs13072855	0.83[ASN][1000 genomes]
rs13089727	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13096539	0.99[ASN][1000 genomes]
rs1400685	0.92[CHD][hapmap];0.85[JPT][hapmap]
rs1994845	0.85[JPT][hapmap]
rs2640019	0.84[JPT][hapmap]
rs295294	0.85[JPT][hapmap]
rs295296	0.85[JPT][hapmap]
rs295315	0.85[JPT][hapmap]
rs295317	0.95[JPT][hapmap]
rs34380263	0.86[ASN][1000 genomes]
rs4467426	0.84[JPT][hapmap]
rs4683407	0.85[JPT][hapmap]
rs58020426	0.81[ASN][1000 genomes]
rs6440024	0.92[CHD][hapmap];0.85[JPT][hapmap]
rs6440027	0.82[ASN][1000 genomes]
rs6768509	0.92[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs6774863	0.98[ASN][1000 genomes]
rs6784270	0.85[JPT][hapmap]
rs6784413	0.85[JPT][hapmap]
rs6791890	0.81[CHB][hapmap];0.92[CHD][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs6805124	0.85[JPT][hapmap]
rs71314592	0.98[ASN][1000 genomes]
rs7618625	0.92[CHD][hapmap];0.85[JPT][hapmap]
rs7639695	0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs868767	0.81[JPT][hapmap]
rs868768	0.81[JPT][hapmap]
rs9841650	0.81[ASN][1000 genomes]
rs9841805	0.80[ASN][1000 genomes]
rs9861838	0.81[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949709	chr3:141295050-142178144	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7650897	GRK7	cis	cerebellum	SCAN
rs7650897	ZBTB38	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141364400-141377600	Weak transcription	Aorta	Aorta
2	chr3:141376200-141378200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:141376400-141377600	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr3:141376400-141377600	Flanking Active TSS	Colon Smooth Muscle	Colon
5	chr3:141377000-141377800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
6	chr3:141377000-141378400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
7	chr3:141377200-141377600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr3:141377200-141377600	Flanking Active TSS	Rectal Smooth Muscle	rectum
9	chr3:141377200-141377800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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