Variant report

Variant	rs7594988
Chromosome Location	chr2:190132452-190132453
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10190073	1.00[AMR][1000 genomes]
rs10210890	1.00[AMR][1000 genomes]
rs10211173	1.00[AMR][1000 genomes]
rs10931399	1.00[AMR][1000 genomes]
rs12693529	1.00[AMR][1000 genomes]
rs1399990	1.00[AMR][1000 genomes]
rs1515863	1.00[AMR][1000 genomes]
rs1519180	1.00[AMR][1000 genomes]
rs1818585	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2037170	1.00[AMR][1000 genomes]
rs2037171	1.00[AMR][1000 genomes]
rs34556340	1.00[AMR][1000 genomes]
rs34606082	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3914569	1.00[AMR][1000 genomes]
rs57449412	1.00[AMR][1000 genomes]
rs57484527	1.00[AMR][1000 genomes]
rs58082189	1.00[AMR][1000 genomes]
rs58148508	1.00[AMR][1000 genomes]
rs58624621	1.00[AMR][1000 genomes]
rs59784139	1.00[AMR][1000 genomes]
rs61325916	1.00[AMR][1000 genomes]
rs61621835	1.00[AMR][1000 genomes]
rs6434329	1.00[AMR][1000 genomes]
rs6434331	1.00[AMR][1000 genomes]
rs6434332	1.00[AMR][1000 genomes]
rs6434333	1.00[AMR][1000 genomes]
rs6434336	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6706066	1.00[AMR][1000 genomes]
rs73978807	1.00[AMR][1000 genomes]
rs73978813	1.00[AMR][1000 genomes]
rs73978814	1.00[AMR][1000 genomes]
rs73978816	1.00[AMR][1000 genomes]
rs73978826	1.00[AMR][1000 genomes]
rs73978829	1.00[AMR][1000 genomes]
rs7578627	1.00[AMR][1000 genomes]
rs7606163	1.00[AMR][1000 genomes]
rs939156	0.94[AFR][1000 genomes];1.00[AMR][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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190127200-190133200	Weak transcription	Fetal Lung	lung
2	chr2:190131800-190132600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr2:190131800-190133600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr2:190131800-190133800	Enhancers	NHDF-Ad	bronchial
5	chr2:190131800-190134200	Enhancers	Muscle Satellite Cultured Cells	--
6	chr2:190132000-190132600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:190132000-190133800	Enhancers	HSMM	muscle
8	chr2:190132000-190133800	Enhancers	NHLF	lung
9	chr2:190132000-190134000	Enhancers	Osteobl	bone
10	chr2:190132200-190132600	Enhancers	HSMMtube	muscle
11	chr2:190132200-190133400	Enhancers	A549	lung
12	chr2:190132200-190133400	Enhancers	NH-A	brain
13	chr2:190132400-190132600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:190132400-190133200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:190132400-190133600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:190132400-190133600	Enhancers	Rectal Smooth Muscle	rectum

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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