Variant report

Variant	rs12315191
Chromosome Location	chr12:10813691-10813692
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11053888	1.00[EUR][1000 genomes]
rs11053890	1.00[EUR][1000 genomes]
rs11053891	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12299672	1.00[EUR][1000 genomes]
rs12302213	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12304656	1.00[EUR][1000 genomes]
rs12311784	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12315090	1.00[EUR][1000 genomes]
rs12319401	0.81[AFR][1000 genomes]
rs12321785	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12322404	0.81[AFR][1000 genomes]
rs4763212	1.00[EUR][1000 genomes]
rs73256092	1.00[EUR][1000 genomes]
rs74060471	1.00[EUR][1000 genomes]
rs74060473	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7968001	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832329	chr12:10677094-10845946	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv607	chr12:10776867-10821535	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1050613	chr12:10809805-10844399	Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10799800-10813800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr12:10809800-10818400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:10809800-10818600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr12:10810000-10818600	Weak transcription	HMEC	breast
5	chr12:10810600-10821200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr12:10811800-10819200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr12:10812000-10819800	Weak transcription	HUVEC	blood vessel
8	chr12:10813000-10815400	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr12:10813400-10815000	Enhancers	Stomach Mucosa	stomach
10	chr12:10813600-10814000	Active TSS	Rectal Mucosa Donor 29	rectum

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