Variant report

Variant	rs12657597
Chromosome Location	chr5:167210626-167210627
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10060956	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10516040	0.82[CHB][hapmap]
rs12656874	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12657312	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13358649	0.80[ASN][1000 genomes]
rs1549309	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17069029	1.00[CEU][hapmap]
rs2287764	1.00[CEU][hapmap];0.85[CHB][hapmap]
rs2337016	1.00[CEU][hapmap]
rs279412	1.00[CEU][hapmap]
rs41416744	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs55855842	0.80[ASN][1000 genomes]
rs72494509	1.00[AMR][1000 genomes]
rs7701095	1.00[CEU][hapmap];0.82[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932627	chr5:166744408-167290959	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1032559	chr5:167070888-167210684	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1027805	chr5:167082800-167285008	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167203600-167218800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:167205400-167212200	Weak transcription	HSMM	muscle
3	chr5:167209400-167210800	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr5:167209400-167214600	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr5:167209800-167211600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:167210000-167211000	Enhancers	Fetal Muscle Leg	muscle
7	chr5:167210200-167211000	Enhancers	HMEC	breast
8	chr5:167210200-167211000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr5:167210400-167210800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr5:167210400-167210800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr5:167210400-167210800	Flanking Active TSS	Fetal Lung	lung
12	chr5:167210400-167211600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr5:167210400-167212800	Enhancers	Primary hematopoietic stem cells short term culture	blood

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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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