Variant report

Variant	rs6752545
Chromosome Location	chr2:190244586-190244587
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:190238500..190240603-chr2:190242623..190245183,2	MCF-7	breast:

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10166420	0.85[ASN][1000 genomes]
rs10175108	1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs10188246	0.85[ASN][1000 genomes]
rs10198663	1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs10207812	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes]
rs10210634	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10804029	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10931417	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11676905	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11677167	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11678414	0.89[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs12613903	1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs12621657	0.81[EUR][1000 genomes]
rs12622720	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12693539	0.91[ASN][1000 genomes]
rs12693540	0.82[ASN][1000 genomes]
rs12994482	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13009912	0.85[ASN][1000 genomes]
rs13015207	0.91[ASN][1000 genomes]
rs13018252	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13035381	1.00[ASN][1000 genomes]
rs1356976	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1474000	0.81[EUR][1000 genomes]
rs1520854	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1520856	0.98[ASN][1000 genomes]
rs1520858	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1520866	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1595749	1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs16831454	0.87[ASN][1000 genomes]
rs1851104	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1866605	1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs1898971	0.82[ASN][1000 genomes]
rs1992295	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2304702	0.89[ASN][1000 genomes]
rs2351635	0.81[EUR][1000 genomes]
rs2351932	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2351934	1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs2683012	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2882805	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4309611	0.81[ASN][1000 genomes]
rs4580411	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4666775	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4667280	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4667284	0.94[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs6434337	0.81[EUR][1000 genomes]
rs6434340	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6434342	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6434343	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6704568	0.81[EUR][1000 genomes]
rs6738193	0.91[ASN][1000 genomes]
rs6747222	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6761868	0.81[EUR][1000 genomes]
rs734859	0.85[ASN][1000 genomes]
rs7420765	0.87[ASN][1000 genomes]
rs7422875	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7425383	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs745742	0.82[ASN][1000 genomes]
rs7556928	1.00[ASN][1000 genomes]
rs7566093	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7574403	0.91[ASN][1000 genomes]
rs8179541	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8179732	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs893407	0.82[ASN][1000 genomes]
rs939158	0.81[EUR][1000 genomes]
rs9677436	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv875613	chr2:189999011-190324685	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv875614	chr2:190110841-190254758	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv875615	chr2:190215527-190444392	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	esv3451292	chr2:190225623-190266276	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190243600-190244600	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr2:190243600-190244800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:190243600-190244800	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr2:190243600-190245000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:190243600-190245000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:190243600-190245200	Enhancers	NHEK	skin
7	chr2:190243600-190246400	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr2:190243800-190244600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr2:190243800-190244600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
10	chr2:190243800-190244600	Enhancers	Colon Smooth Muscle	Colon
11	chr2:190243800-190244600	Enhancers	Fetal Lung	lung
12	chr2:190243800-190244800	Enhancers	Fetal Heart	heart
13	chr2:190243800-190245000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:190243800-190245000	Flanking Active TSS	A549	lung
15	chr2:190243800-190245800	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr2:190243800-190246000	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr2:190244000-190244600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:190244000-190244600	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr2:190244000-190244600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr2:190244000-190244600	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr2:190244000-190244600	Flanking Active TSS	NHDF-Ad	bronchial
22	chr2:190244000-190244600	Flanking Active TSS	Osteobl	bone
23	chr2:190244000-190244800	Flanking Active TSS	NH-A	brain
24	chr2:190244000-190245000	Enhancers	Rectal Smooth Muscle	rectum
25	chr2:190244200-190244600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr2:190244200-190244600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr2:190244400-190244600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr2:190244400-190244600	Enhancers	Hela-S3	cervix
29	chr2:190244400-190244600	Enhancers	HMEC	breast
30	chr2:190244400-190244600	Enhancers	NHLF	lung
31	chr2:190244400-190244800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:190244400-190244800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr2:190244400-190244800	Enhancers	HSMM	muscle
34	chr2:190244400-190244800	Enhancers	HSMMtube	muscle
35	chr2:190244400-190245000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr2:190244400-190245200	Enhancers	HUES48 Cell Line	embryonic stem cell

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