Variant report

Variant	rs999184
Chromosome Location	chr12:10113245-10113246
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11832249	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs11835745	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs2961539	0.89[AMR][1000 genomes]
rs4502063	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55816893	0.89[AMR][1000 genomes]
rs56335515	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56388724	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7137050	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs74065414	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs74065416	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs74065422	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74065423	1.00[AFR][1000 genomes];1.00[AMR][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	nsv1044587	chr12:10029514-10123414	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription 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	9 gene(s)	inside rSNPs	diseases
2	nsv523050	chr12:10031880-10124373	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv898755	chr12:10069302-10186284	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv975404	chr12:10102404-10114263	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 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	chr12:10110200-10114200	Enhancers	Primary B cells from peripheral blood	blood
2	chr12:10110200-10115400	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr12:10110800-10113400	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr12:10111200-10113400	Weak transcription	Dnd41	blood
5	chr12:10111400-10113400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr12:10111400-10113400	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr12:10111400-10113400	Weak transcription	Fetal Thymus	thymus
8	chr12:10111400-10113600	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr12:10111600-10113400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr12:10112400-10114000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr12:10112800-10113400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr12:10113000-10113800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:10113000-10114000	Enhancers	Primary B cells from cord blood	blood
14	chr12:10113000-10114000	Enhancers	GM12878-XiMat	blood
15	chr12:10113200-10113600	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr12:10113200-10113800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr12:10113200-10114000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr12:10113200-10114400	Enhancers	Primary T cells from cord blood	blood

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

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