Variant report

Variant	rs7966374
Chromosome Location	chr12:45969426-45969427
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11183116	0.87[ASN][1000 genomes]
rs11183117	0.95[ASN][1000 genomes]
rs11183119	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11183120	0.95[ASN][1000 genomes]
rs12320246	0.95[ASN][1000 genomes]
rs2544099	0.92[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2712579	0.92[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2712606	0.86[AMR][1000 genomes];0.84[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	nsv832395	chr12:45841765-46039297	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv2751099	chr12:45960118-46043633	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45966800-45975400	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr12:45967000-45976400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr12:45967800-45969800	Enhancers	Duodenum Mucosa	Duodenum
4	chr12:45967800-45971600	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr12:45968000-45969600	Enhancers	Primary B cells from cord blood	blood
6	chr12:45968000-45971000	Enhancers	Primary hematopoietic stem cells	blood
7	chr12:45968400-45972000	Enhancers	Primary B cells from peripheral blood	blood
8	chr12:45968600-45969800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr12:45968800-45970800	Weak transcription	Stomach Mucosa	stomach
10	chr12:45969200-45969600	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr12:45969200-45970400	Enhancers	Brain Hippocampus Middle	brain
12	chr12:45969200-45970600	Enhancers	Fetal Thymus	thymus
13	chr12:45969200-45971000	Enhancers	GM12878-XiMat	blood
14	chr12:45969200-45971200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr12:45969200-45972200	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr12:45969400-45970600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr12:45969400-45970600	Enhancers	Brain Substantia Nigra	brain
18	chr12:45969400-45970800	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr12:45969400-45971200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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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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