Variant report

Variant	rs2803189
Chromosome Location	chr6:80190625-80190626
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	chr6:80186377..80188286-chr6:80190241..80192504,2	MCF-7	breast:

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10498921	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1158770	0.93[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1158771	1.00[ASN][1000 genomes]
rs11965020	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11966497	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1385536	0.92[CEU][hapmap];1.00[JPT][hapmap]
rs1385537	0.93[CEU][hapmap];1.00[JPT][hapmap]
rs1485370	0.93[CEU][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1485372	1.00[ASN][1000 genomes]
rs1504368	0.93[ASN][1000 genomes]
rs16890774	0.93[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16890835	0.92[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16890850	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16890862	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16890875	1.00[JPT][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17335231	1.00[JPT][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17727505	0.93[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2575204	1.00[ASN][1000 genomes]
rs2575208	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2655666	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2655677	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2655679	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2655680	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2655703	0.92[CEU][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2803188	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2803197	0.92[CEU][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41269343	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55830218	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55989614	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56087572	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56745436	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61152095	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62411332	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62411348	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62413360	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62413362	0.86[ASN][1000 genomes]
rs62413366	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62413368	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62413370	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62413371	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62413372	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62413377	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62413380	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62413382	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62413385	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62413387	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62413388	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62413389	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62413390	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62413391	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62413395	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62413396	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62413399	0.93[ASN][1000 genomes]
rs62413401	0.93[ASN][1000 genomes]
rs62413416	0.93[ASN][1000 genomes]
rs6454124	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6454125	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6907133	0.92[CEU][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6917186	0.93[ASN][1000 genomes]
rs6920635	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6921102	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6925212	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6926534	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6934060	0.93[ASN][1000 genomes]
rs73747413	0.93[ASN][1000 genomes]
rs73750727	0.93[ASN][1000 genomes]
rs7745158	1.00[JPT][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7745429	1.00[JPT][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7749776	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7760677	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7761245	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7763266	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7763268	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7768651	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7768724	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7769778	0.93[ASN][1000 genomes]
rs7772722	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7775232	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs992872	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028607	chr6:79853272-80767716	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv886301	chr6:80111104-80339088	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv886302	chr6:80111104-80355973	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1030126	chr6:80113449-80209165	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv1027388	chr6:80113449-80355973	ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv830707	chr6:80134625-80325171	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv1029259	chr6:80142754-80340332	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
8	nsv886303	chr6:80147225-80252423	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80171200-80220000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr6:80171600-80226600	Weak transcription	Brain Hippocampus Middle	brain
3	chr6:80174000-80191800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr6:80178200-80193600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr6:80178200-80196800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr6:80178200-80212800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:80178400-80197200	Weak transcription	HSMM	muscle
8	chr6:80179600-80207400	Weak transcription	Ovary	ovary
9	chr6:80179800-80195600	Weak transcription	Pancreas	Pancrea
10	chr6:80179800-80208600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr6:80179800-80217200	Weak transcription	Aorta	Aorta
12	chr6:80179800-80235000	Weak transcription	HSMMtube	muscle
13	chr6:80180400-80215400	Weak transcription	Fetal Lung	lung
14	chr6:80181400-80222000	Weak transcription	Left Ventricle	heart
15	chr6:80187600-80200400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr6:80188600-80204800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr6:80188800-80191600	Weak transcription	Brain Angular Gyrus	brain
18	chr6:80188800-80198400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr6:80189600-80216600	Weak transcription	Fetal Brain Female	brain
20	chr6:80189600-80225200	Weak transcription	Stomach Smooth Muscle	stomach
21	chr6:80190200-80203000	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr6:80190200-80234400	Weak transcription	Fetal Intestine Large	intestine
23	chr6:80190600-80190800	Enhancers	Pancreatic Islets	Pancreatic Islet

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