Variant report

Variant	rs57961136
Chromosome Location	chr5:118761705-118761706
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10067734	1.00[AMR][1000 genomes]
rs11948223	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11951264	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12657181	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58359191	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59644927	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61553637	0.95[ASN][1000 genomes]
rs6876193	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73244920	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7709833	0.86[ASN][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	nsv1030717	chr5:118709310-118836951	Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv427732	chr5:118730999-119034741	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv965533	chr5:118738884-118762384	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	nsv4974	chr5:118750259-118795376	Genic enhancers Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118753800-118762800	Weak transcription	Colon Smooth Muscle	Colon
2	chr5:118754800-118762200	Weak transcription	K562	blood
3	chr5:118756200-118762200	Weak transcription	Stomach Mucosa	stomach
4	chr5:118756600-118761800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr5:118756800-118761800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr5:118756800-118762400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr5:118756800-118762800	Weak transcription	Placenta	Placenta
8	chr5:118757200-118761800	Weak transcription	Primary B cells from peripheral blood	blood
9	chr5:118757200-118762000	Weak transcription	Primary B cells from cord blood	blood
10	chr5:118759000-118762000	Weak transcription	Adipose Nuclei	Adipose
11	chr5:118759400-118762200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr5:118761200-118762000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:118761400-118763200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr5:118761400-118765000	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr5:118761600-118762000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr5:118761600-118762600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr5:118761600-118764000	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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