Variant report

Variant	rs7599216
Chromosome Location	chr2:190118691-190118692
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:190118168..190119811-chr2:190148102..190150928,2	MCF-7	breast:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10193669	1.00[JPT][hapmap]
rs10196323	1.00[JPT][hapmap]
rs10196675	1.00[JPT][hapmap]
rs10202907	1.00[JPT][hapmap]
rs10206086	1.00[JPT][hapmap]
rs10207860	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10469738	1.00[ASN][1000 genomes]
rs12886	0.83[ASN][1000 genomes]
rs13405433	0.87[EUR][1000 genomes]
rs13424586	0.87[EUR][1000 genomes]
rs13427051	1.00[JPT][hapmap]
rs13430879	1.00[JPT][hapmap]
rs13430915	1.00[JPT][hapmap]
rs1464136	0.86[AFR][1000 genomes]
rs1606931	0.85[AFR][1000 genomes]
rs28545536	0.87[EUR][1000 genomes]
rs55749146	0.83[ASN][1000 genomes]
rs55881040	0.83[ASN][1000 genomes]
rs56339059	0.83[ASN][1000 genomes]
rs59291399	0.83[ASN][1000 genomes]
rs59631824	0.83[ASN][1000 genomes]
rs6414123	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6725458	1.00[JPT][hapmap]
rs6754272	1.00[JPT][hapmap]
rs6761847	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73978837	0.83[ASN][1000 genomes]
rs73981481	0.83[ASN][1000 genomes]
rs73981485	0.83[ASN][1000 genomes]
rs73981487	0.83[ASN][1000 genomes]
rs73981488	0.83[ASN][1000 genomes]
rs73981489	0.83[ASN][1000 genomes]
rs7419916	0.83[ASN][1000 genomes]
rs7572416	1.00[JPT][hapmap]
rs7577872	0.87[AFR][1000 genomes]
rs7582435	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7586	0.83[ASN][1000 genomes]
rs7586032	1.00[JPT][hapmap]
rs7596033	0.92[AFR][1000 genomes]
rs7599676	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7606355	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs870922	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv1014747	chr2:190097979-190132854	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	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

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190115200-190119000	Weak transcription	Aorta	Aorta
2	chr2:190115200-190119000	Weak transcription	Ovary	ovary
3	chr2:190115600-190126200	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr2:190117600-190119000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:190117600-190119000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr2:190117600-190119000	Enhancers	Osteobl	bone
7	chr2:190117600-190119200	Enhancers	Muscle Satellite Cultured Cells	--
8	chr2:190117800-190119000	Enhancers	HSMMtube	muscle
9	chr2:190117800-190119600	Flanking Active TSS	A549	lung
10	chr2:190117800-190119800	Flanking Active TSS	NHDF-Ad	bronchial
11	chr2:190117800-190120000	Enhancers	HSMM	muscle
12	chr2:190117800-190120000	Enhancers	NHLF	lung
13	chr2:190118000-190119400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:190118000-190119800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:190118000-190119800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:190118000-190119800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:190118000-190119800	Enhancers	Fetal Lung	lung
18	chr2:190118200-190119000	Enhancers	NHEK	skin
19	chr2:190118200-190119200	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr2:190118200-190119400	Enhancers	Hela-S3	cervix
21	chr2:190118200-190119800	Enhancers	NH-A	brain
22	chr2:190118200-190120000	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr2:190118200-190120000	Enhancers	HMEC	breast
24	chr2:190118400-190119400	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr2:190118400-190119800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr2:190118400-190120000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr2:190118600-190118800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:190118600-190119000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr2:190118600-190119400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:190118600-190119600	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr2:190118600-190119600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr2:190118600-190119800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr2:190118600-190119800	Enhancers	Colon Smooth Muscle	Colon
34	chr2:190118600-190119800	Enhancers	Fetal Stomach	stomach

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