Variant report

Variant	rs1485372
Chromosome Location	chr6:80177858-80177859
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	chr6:80175533..80178362-chr6:80187176..80190126,2	K562	blood:
2	chr6:79789634..79791337-chr6:80176211..80178981,2	K562	blood:

Extended variants
information (count: 93 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10498921	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1158770	1.00[CEU][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1158771	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11965020	0.93[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11966497	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1385536	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes]
rs1385537	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes]
rs1485370	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1485377	0.81[CEU][hapmap];0.90[EUR][1000 genomes]
rs1504368	0.93[ASN][1000 genomes]
rs16890774	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16890835	0.86[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	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16890875	1.00[JPT][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17335231	1.00[JPT][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17727505	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2437702	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2575204	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2575208	0.92[CEU][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2629472	0.98[EUR][1000 genomes]
rs2629473	0.96[EUR][1000 genomes]
rs2655666	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2655677	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2655679	0.86[ASN][1000 genomes]
rs2655680	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2655703	0.85[CEU][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2803188	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2803189	1.00[ASN][1000 genomes]
rs2803197	0.86[CEU][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41269343	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55830218	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55989614	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56087572	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56745436	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61152095	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62411324	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62411332	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62411348	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62413360	0.86[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	0.85[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	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62413385	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62413387	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62413388	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62413389	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62413390	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62413391	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62413395	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62413396	0.80[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	0.85[CEU][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6917186	0.93[ASN][1000 genomes]
rs6920635	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6921102	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6925212	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6926534	0.80[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];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7745429	1.00[JPT][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7749776	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7760677	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7761245	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7763266	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7763268	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7767034	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7768651	0.80[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	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7775232	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs992872	0.90[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:31 , 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	chr6:80173200-80179600	Enhancers	HepG2	liver
4	chr6:80174000-80191800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr6:80175800-80178200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr6:80176000-80179000	Weak transcription	HUVEC	blood vessel
7	chr6:80176200-80178400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr6:80176200-80179600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr6:80177200-80178000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr6:80177200-80178400	Enhancers	HSMM	muscle
11	chr6:80177200-80179400	Enhancers	K562	blood
12	chr6:80177400-80178200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr6:80177400-80178200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr6:80177400-80178200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr6:80177400-80178200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr6:80177400-80178200	Enhancers	Adipose Nuclei	Adipose
17	chr6:80177400-80178200	Enhancers	Placenta Amnion	Placenta Amnion
18	chr6:80177400-80178400	Enhancers	Muscle Satellite Cultured Cells	--
19	chr6:80177400-80178400	Enhancers	Placenta	Placenta
20	chr6:80177400-80178600	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr6:80177400-80178600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr6:80177400-80179200	Enhancers	Osteobl	bone
23	chr6:80177400-80179600	Enhancers	NHDF-Ad	bronchial
24	chr6:80177400-80179800	Enhancers	HSMMtube	muscle
25	chr6:80177600-80178200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr6:80177600-80178200	Enhancers	NHEK	skin
27	chr6:80177800-80178000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr6:80177800-80178200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr6:80177800-80178200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr6:80177800-80178200	Enhancers	Pancreas	Pancrea
31	chr6:80177800-80178400	Enhancers	Fetal Lung	lung

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