Variant report

Variant	rs17211634
Chromosome Location	chr5:126921427-126921428
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17790773	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56300242	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72792006	1.00[ASN][1000 genomes]
rs72792033	1.00[ASN][1000 genomes]
rs72792042	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73783928	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7718377	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7729354	1.00[CHD][hapmap];1.00[GIH][hapmap];0.81[MKK][hapmap];1.00[ASN][1000 genomes]

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	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1019821	chr5:126658200-126934917	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv537894	chr5:126658200-126934917	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv830478	chr5:126721368-126937408	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv830479	chr5:126849254-127053121	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 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	chr5:126920800-126922200	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr5:126921000-126922400	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr5:126921200-126921600	Enhancers	H1 Cell Line	embryonic stem cell
4	chr5:126921200-126921600	Enhancers	H9 Cell Line	embryonic stem cell
5	chr5:126921200-126921600	Enhancers	Primary B cells from peripheral blood	blood
6	chr5:126921200-126921600	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr5:126921200-126922000	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr5:126921200-126922000	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr5:126921200-126922200	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr5:126921200-126922400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:126921200-126922800	Flanking Active TSS	GM12878-XiMat	blood
12	chr5:126921200-126924400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr5:126921400-126921600	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr5:126921400-126921600	Enhancers	Small Intestine	intestine
15	chr5:126921400-126922000	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr5:126921400-126922200	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr5:126921400-126922200	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr5:126921400-126936600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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