Variant report

Variant	rs6752597
Chromosome Location	chr2:62823444-62823445
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	chr2:62805472..62807401-chr2:62822491..62825176,2	MCF-7	breast:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10186082	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10192894	0.91[ASN][1000 genomes]
rs10204410	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1038572	0.81[CEU][hapmap]
rs10496099	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs11125929	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11125930	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12713462	0.90[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs13404126	0.95[ASN][1000 genomes]
rs13417156	0.97[ASN][1000 genomes]
rs1386399	1.00[YRI][hapmap]
rs1386401	0.96[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.83[EUR][1000 genomes]
rs1406002	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1487074	0.84[CEU][hapmap]
rs1534418	0.84[CEU][hapmap]
rs1534420	0.84[CEU][hapmap];1.00[YRI][hapmap]
rs1601673	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2204656	0.81[CEU][hapmap];1.00[YRI][hapmap]
rs28798215	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62180020	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6545957	0.84[EUR][1000 genomes]
rs6545960	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6545961	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6545962	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6545963	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6545969	0.84[CEU][hapmap]
rs6714927	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6757128	0.84[CEU][hapmap]
rs7558681	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7564277	0.84[EUR][1000 genomes]
rs7564393	0.83[EUR][1000 genomes]
rs7578229	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7583570	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7607678	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9989741	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv535766	chr2:62177655-62929746	Bivalent/Poised TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv916190	chr2:62233785-63006200	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv932487	chr2:62258290-63006200	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv535767	chr2:62461582-63413596	Bivalent Enhancer Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
5	nsv834226	chr2:62745027-62894013	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv874232	chr2:62758044-62906084	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv834237	chr2:62762743-62926036	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 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	chr2:62820800-62825400	Enhancers	Fetal Intestine Large	intestine
2	chr2:62822000-62825600	Enhancers	NHDF-Ad	bronchial
3	chr2:62822400-62823800	Enhancers	Osteobl	bone
4	chr2:62822400-62825000	Enhancers	Fetal Stomach	stomach
5	chr2:62822400-62825200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr2:62822400-62825400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:62822600-62824800	Enhancers	Ovary	ovary
8	chr2:62822600-62825000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:62822600-62825000	Enhancers	NH-A	brain
10	chr2:62822600-62825400	Enhancers	NHLF	lung
11	chr2:62822800-62824800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:62822800-62824800	Enhancers	Colon Smooth Muscle	Colon
13	chr2:62823000-62823800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:62823000-62824200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:62823000-62824800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:62823000-62824800	Enhancers	Muscle Satellite Cultured Cells	--
17	chr2:62823000-62825000	Enhancers	Liver	Liver
18	chr2:62823200-62823600	Enhancers	Fetal Brain Male	brain
19	chr2:62823200-62823800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr2:62823200-62823800	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr2:62823200-62823800	Enhancers	A549	lung
22	chr2:62823200-62823800	Enhancers	HMEC	breast
23	chr2:62823200-62823800	Enhancers	HUVEC	blood vessel
24	chr2:62823200-62824000	Enhancers	NHEK	skin
25	chr2:62823200-62825000	Enhancers	Fetal Lung	lung
26	chr2:62823200-62825000	Enhancers	HSMM	muscle
27	chr2:62823200-62825400	Enhancers	HepG2	liver
28	chr2:62823200-62826000	Weak transcription	Fetal Intestine Small	intestine
29	chr2:62823400-62823600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr2:62823400-62823800	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr2:62823400-62824800	Enhancers	Cortex derived primary cultured neurospheres	brain

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