Variant report

Variant	rs17139619
Chromosome Location	chr7:18723347-18723348
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10240305	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs11505303	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11970952	1.00[AMR][1000 genomes]
rs11970990	1.00[AMR][1000 genomes]
rs11977498	0.85[YRI][hapmap]
rs11982882	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17139344	1.00[YRI][hapmap]
rs17139554	1.00[JPT][hapmap];1.00[YRI][hapmap]
rs17139557	0.82[YRI][hapmap]
rs17150249	1.00[JPT][hapmap];1.00[YRI][hapmap]
rs212667	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs3852248	1.00[CHB][hapmap]
rs4605958	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs61356214	0.81[ASN][1000 genomes]
rs7777856	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7812153	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs812395	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2755157	chr7:18337660-18805860	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv830917	chr7:18612436-18817712	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv531368	chr7:18677922-18836920	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv498112	chr7:18677922-18991946	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv887813	chr7:18720135-18995552	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:18688800-18746400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr7:18698000-18743400	Weak transcription	HSMMtube	muscle
3	chr7:18699600-18776000	Weak transcription	Aorta	Aorta
4	chr7:18715400-18732800	Weak transcription	Primary B cells from peripheral blood	blood
5	chr7:18716200-18733600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr7:18720400-18725400	Weak transcription	Osteobl	bone
7	chr7:18721000-18724000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr7:18722800-18723400	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr7:18723000-18726200	Strong transcription	Primary B cells from cord blood	blood
10	chr7:18723200-18732800	Weak transcription	Primary monocytes fromperipheralblood	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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