Variant report

Variant	rs12315848
Chromosome Location	chr12:39250766-39250767
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11169540	0.85[AFR][1000 genomes]
rs11169673	1.00[AFR][1000 genomes]
rs11169784	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs11169804	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs11169841	1.00[AFR][1000 genomes]
rs12304541	1.00[YRI][hapmap]
rs12304745	1.00[YRI][hapmap]
rs12307805	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs12308956	1.00[AFR][1000 genomes]
rs12316541	1.00[YRI][hapmap]
rs12318843	1.00[AFR][1000 genomes]
rs12319976	0.85[AFR][1000 genomes]
rs12322751	0.85[AFR][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	nsv1047623	chr12:39187817-39539939	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv3389115	chr12:39221256-39448458	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 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	chr12:39203200-39276000	Weak transcription	Aorta	Aorta
2	chr12:39204000-39284800	Weak transcription	Lung	lung
3	chr12:39221800-39251800	Weak transcription	Liver	Liver
4	chr12:39229400-39252200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:39238800-39271600	Weak transcription	NHEK	skin
6	chr12:39239200-39284000	Weak transcription	Hela-S3	cervix
7	chr12:39242200-39252400	Weak transcription	Ovary	ovary
8	chr12:39242400-39251200	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr12:39244200-39252000	Weak transcription	Left Ventricle	heart
10	chr12:39245000-39252200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr12:39247600-39255000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr12:39247600-39257800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr12:39248800-39251800	Weak transcription	A549	lung
14	chr12:39249400-39251800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr12:39249600-39251600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr12:39250000-39252000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr12:39250400-39251800	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr12:39250600-39273200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

Quick Search:

Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

what's new

Quick links