Variant report

Variant	rs40244
Chromosome Location	chr7:11490005-11490006
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10224183	0.92[CHB][hapmap];0.83[JPT][hapmap]
rs10950347	0.80[CEU][hapmap];0.90[CHB][hapmap]
rs11979605	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs12055997	0.90[CHB][hapmap]
rs17164600	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs2189351	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs2301743	0.92[CHB][hapmap]
rs4351330	1.00[CHB][hapmap];0.83[JPT][hapmap]
rs6460812	0.92[CHB][hapmap]
rs6460814	0.92[CHB][hapmap]
rs6962687	1.00[CHB][hapmap]
rs7777246	0.92[CHB][hapmap]
rs7792678	0.92[CHB][hapmap];0.83[JPT][hapmap]
rs7796686	0.85[CHB][hapmap];0.83[JPT][hapmap]
rs7803385	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs7807369	0.92[CHB][hapmap];0.83[JPT][hapmap]
rs7811128	0.92[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019888	chr7:10712858-11496785	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1029836	chr7:10713523-11492751	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv538730	chr7:10713523-11492751	Weak transcription Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv1024171	chr7:10810444-11559156	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	nsv817291	chr7:10875417-11562683	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv1028326	chr7:11221209-11754436	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv538733	chr7:11221209-11754436	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv830902	chr7:11336527-11523904	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv830903	chr7:11384957-11586376	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv1023665	chr7:11457493-11773517	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv887606	chr7:11473561-11771288	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs40244	THSD7A	cis	parietal	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11464800-11513400	Weak transcription	Fetal Kidney	kidney
2	chr7:11468800-11500200	Weak transcription	Pancreas	Pancrea
3	chr7:11476600-11495600	Weak transcription	A549	lung
4	chr7:11480400-11523200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr7:11483400-11490200	Weak transcription	Fetal Stomach	stomach
6	chr7:11483600-11497400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:11486800-11490400	Enhancers	Fetal Intestine Large	intestine
8	chr7:11487000-11494600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr7:11487200-11500000	Weak transcription	Placenta	Placenta
10	chr7:11488800-11491600	Enhancers	HUVEC	blood vessel
11	chr7:11488800-11492600	Enhancers	Fetal Lung	lung
12	chr7:11489400-11491000	Enhancers	Stomach Mucosa	stomach
13	chr7:11489600-11498200	Weak transcription	Fetal Intestine Small	intestine
14	chr7:11490000-11490400	Enhancers	Muscle Satellite Cultured Cells	--

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