Variant report

Variant	rs10743918
Chromosome Location	chr12:10819922-10819923
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10743917	0.87[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10772348	0.92[EUR][1000 genomes]
rs10845199	1.00[CEU][hapmap];0.82[CHD][hapmap];0.88[GIH][hapmap];0.83[MEX][hapmap];0.89[TSI][hapmap];0.97[EUR][1000 genomes]
rs7297205	0.96[CEU][hapmap];0.88[EUR][1000 genomes]
rs7977694	0.87[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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10743918	C12orf33	cis	cerebellum	SCAN
rs10743918	KLRA1	cis	parietal	SCAN
rs10743918	OLR1	cis	parietal	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10810600-10821200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr12:10815000-10820400	Weak transcription	Stomach Mucosa	stomach
3	chr12:10817800-10820000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr12:10818000-10820400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr12:10818600-10821600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr12:10818800-10820800	Weak transcription	NHEK	skin
7	chr12:10819000-10825400	Weak transcription	HMEC	breast
8	chr12:10819200-10820000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr12:10819200-10820400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr12:10819800-10820200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr12:10819800-10821600	Enhancers	HUVEC	blood vessel

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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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