Variant report

Variant	rs12231956
Chromosome Location	chr12:10816999-10817000
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 5 )

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

rs_ID	r²[population]
rs10845197	1.00[JPT][hapmap]
rs10845198	0.84[CHB][hapmap];0.83[GIH][hapmap]
rs12316690	1.00[JPT][hapmap]
rs2418095	1.00[JPT][hapmap]
rs4141579	0.88[ASN][1000 genomes]
rs4763573	1.00[JPT][hapmap]
rs7297091	0.82[JPT][hapmap]
rs7313620	0.81[JPT][hapmap]
rs7968284	0.84[CHB][hapmap];0.86[GIH][hapmap]
rs7970568	1.00[JPT][hapmap]

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

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs12231956	TAS2R20	cis	cerebellum	SCAN
rs12231956	SLC2A14	cis	parietal	SCAN
rs12231956	TAS2R31	cis	cerebellum	SCAN
rs12231956	TAS2R19	cis	cerebellum	SCAN
rs12231956	TAS2R13	cis	cerebellum	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10809800-10818400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:10809800-10818600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr12:10810000-10818600	Weak transcription	HMEC	breast
4	chr12:10810600-10821200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr12:10811800-10819200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr12:10812000-10819800	Weak transcription	HUVEC	blood vessel
7	chr12:10814000-10817000	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr12:10815000-10820400	Weak transcription	Stomach Mucosa	stomach
9	chr12:10816600-10817800	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr12:10816800-10817200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr12:10816800-10817600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr12:10816800-10818800	Enhancers	Placenta Amnion	Placenta Amnion

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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

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