Variant report

Variant	rs13015183
Chromosome Location	chr2:190070927-190070928
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:190070733..190073689-chr2:190074738..190076938,2	MCF-7	breast:
2	chr2:190062458..190066163-chr2:190067446..190071057,3	K562	blood:
3	chr2:190070368..190072628-chr2:190306962..190308655,2	K562	blood:
4	chr2:190068274..190071014-chr2:190073430..190076156,3	K562	blood:
5	chr2:190069482..190073456-chr2:190088390..190091249,3	MCF-7	breast:
6	chr2:190069982..190071927-chr2:190089860..190092492,2	MCF-7	breast:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10165257	0.91[ASN][1000 genomes]
rs10166385	0.95[ASN][1000 genomes]
rs10167242	0.84[ASN][1000 genomes]
rs10172607	0.93[ASN][1000 genomes]
rs10173224	0.94[ASN][1000 genomes]
rs10184895	0.93[ASN][1000 genomes]
rs10755002	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10931401	0.89[ASN][1000 genomes]
rs10931403	0.92[ASN][1000 genomes]
rs10931405	0.86[ASN][1000 genomes]
rs10931411	0.80[ASN][1000 genomes]
rs11901914	0.93[ASN][1000 genomes]
rs12474942	0.93[ASN][1000 genomes]
rs12621657	0.84[ASN][1000 genomes]
rs12999122	0.83[AFR][1000 genomes]
rs12999125	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13006065	0.92[ASN][1000 genomes]
rs13012327	0.83[AFR][1000 genomes]
rs13028226	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13031609	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs13408928	0.96[ASN][1000 genomes]
rs13411992	0.95[ASN][1000 genomes]
rs13413518	0.96[ASN][1000 genomes]
rs1356161	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1356166	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1399992	0.82[AFR][1000 genomes]
rs1464135	0.91[ASN][1000 genomes]
rs1474000	0.85[ASN][1000 genomes]
rs1515866	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1515874	0.81[AFR][1000 genomes]
rs1533618	0.85[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs1546617	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1913892	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1973666	0.92[ASN][1000 genomes]
rs1983318	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2351631	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2351632	0.92[ASN][1000 genomes]
rs2351633	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2351635	0.83[ASN][1000 genomes]
rs4667268	0.89[ASN][1000 genomes]
rs4667270	0.96[ASN][1000 genomes]
rs4667271	0.86[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs4667275	0.83[ASN][1000 genomes]
rs6434334	0.87[ASN][1000 genomes]
rs6434337	0.85[ASN][1000 genomes]
rs6704568	0.84[ASN][1000 genomes]
rs6728877	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6732534	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6761868	0.84[ASN][1000 genomes]
rs7574281	0.85[ASN][1000 genomes]
rs7587147	0.82[AFR][1000 genomes]
rs7587956	0.83[AFR][1000 genomes]
rs7599222	0.95[ASN][1000 genomes]
rs7603704	0.89[ASN][1000 genomes]
rs939158	0.83[ASN][1000 genomes]
rs939160	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190064800-190073200	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr2:190065000-190073000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:190068800-190071200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:190069200-190071600	Enhancers	Hela-S3	cervix
5	chr2:190069600-190072200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:190069600-190072800	Weak transcription	HUVEC	blood vessel
7	chr2:190069600-190073000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr2:190069600-190073200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr2:190069800-190072200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:190069800-190073200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr2:190069800-190073200	Weak transcription	HSMM	muscle
12	chr2:190069800-190073200	Weak transcription	NH-A	brain
13	chr2:190069800-190073600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr2:190069800-190074400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:190070000-190073000	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr2:190070000-190074600	Weak transcription	HMEC	breast
17	chr2:190070200-190072800	Weak transcription	NHDF-Ad	bronchial
18	chr2:190070200-190072800	Weak transcription	NHLF	lung
19	chr2:190070200-190074000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:190070200-190074200	Weak transcription	NHEK	skin
21	chr2:190070400-190072800	Enhancers	A549	lung
22	chr2:190070400-190072800	Weak transcription	Osteobl	bone
23	chr2:190070400-190073000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:190070400-190073200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr2:190070400-190074400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr2:190070600-190071200	Enhancers	K562	blood
27	chr2:190070800-190071200	Enhancers	H9 Cell Line	embryonic stem cell
28	chr2:190070800-190071200	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr2:190070800-190071200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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