Variant report

Variant	rs17631187
Chromosome Location	chr13:30433847-30433848
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10492458	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11147399	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17625384	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs278046	0.81[ASN][1000 genomes]
rs278050	0.87[CHB][hapmap];0.82[ASN][1000 genomes]
rs278051	1.00[CEU][hapmap];0.87[CHB][hapmap];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs278052	0.84[ASN][1000 genomes]
rs9314983	0.80[CHB][hapmap]
rs9550497	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9550500	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs9551740	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9551742	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9551746	0.86[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9551747	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9551757	0.87[CHB][hapmap]
rs9551765	0.81[CHB][hapmap]
rs9551766	0.80[CHB][hapmap]
rs9634356	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs980524	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[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	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30427200-30434000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr13:30427400-30434200	Weak transcription	HSMM	muscle
3	chr13:30427600-30435600	Weak transcription	A549	lung
4	chr13:30430000-30435400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr13:30430200-30435400	Weak transcription	Placenta	Placenta
6	chr13:30430800-30436600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr13:30432000-30435600	Enhancers	Osteobl	bone
8	chr13:30432200-30434200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr13:30432600-30435400	Weak transcription	NHEK	skin
10	chr13:30432600-30436400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr13:30432800-30434200	Weak transcription	NHLF	lung
12	chr13:30433000-30434800	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr13:30433000-30435000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr13:30433200-30435400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr13:30433200-30435400	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr13:30433200-30435400	Weak transcription	NHDF-Ad	bronchial
17	chr13:30433600-30434800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr13:30433800-30435800	Enhancers	Placenta Amnion	Placenta Amnion

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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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