Variant report

Variant	rs12042344
Chromosome Location	chr1:186858135-186858136
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12720519	0.92[AFR][1000 genomes]
rs16826055	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16826060	0.88[CEU][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2064115	0.89[EUR][1000 genomes]
rs2223308	0.84[AFR][1000 genomes]
rs2223309	1.00[ASW][hapmap];0.88[LWK][hapmap];0.80[MEX][hapmap];0.82[TSI][hapmap];0.83[AFR][1000 genomes]
rs60328504	0.80[AFR][1000 genomes]
rs7512281	0.81[AFR][1000 genomes]
rs7534926	0.81[AFR][1000 genomes]
rs7540602	0.89[CEU][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv872590	chr1:186557453-187500338	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186839200-186884800	Weak transcription	Duodenum Mucosa	Duodenum
2	chr1:186841800-186862400	Weak transcription	Hela-S3	cervix
3	chr1:186850800-186862200	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr1:186850800-186863400	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr1:186850800-186865400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:186852800-186865600	Weak transcription	NHDF-Ad	bronchial
7	chr1:186854000-186869400	Weak transcription	Pancreas	Pancrea
8	chr1:186854000-186897200	Weak transcription	Lung	lung
9	chr1:186854400-186880000	Weak transcription	Fetal Intestine Small	intestine
10	chr1:186854800-186868000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr1:186855600-186864000	Weak transcription	Primary hematopoietic stem cells	blood
12	chr1:186855800-186858600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:186856400-186864000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:186857200-186864400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:186857200-186864800	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr1:186857200-186865400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr1:186857600-186863000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:186857600-186865600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:186857800-186861800	Weak transcription	Colon Smooth Muscle	Colon
20	chr1:186857800-186864800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:186858000-186862200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:186858000-186862200	Weak transcription	Aorta	Aorta
23	chr1:186858000-186862200	Weak transcription	NHEK	skin

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