Variant report

Variant	rs7805803
Chromosome Location	chr7:50225391-50225392
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs13231384	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs1379183	0.80[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs6957965	0.86[CHB][hapmap];0.87[ASN][1000 genomes]
rs921917	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv464444	chr7:49671882-50454736	Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv606897	chr7:49671883-50454736	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv498090	chr7:49708644-50427714	Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv1020869	chr7:49712860-50457544	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1024102	chr7:50195864-50418159	Genic enhancers Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Total ventricular volume	21116278	GWAS catalog

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50219600-50225600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr7:50220000-50226200	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr7:50220200-50225400	Enhancers	Primary hematopoietic stem cells	blood
4	chr7:50220200-50226000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr7:50221200-50225800	Weak transcription	Placenta	Placenta
6	chr7:50222400-50225800	Enhancers	Fetal Thymus	thymus
7	chr7:50223000-50228800	Weak transcription	Adipose Nuclei	Adipose
8	chr7:50223200-50225400	Enhancers	Thymus	Thymus
9	chr7:50223400-50225800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr7:50224200-50225400	Enhancers	Primary B cells from cord blood	blood
11	chr7:50224400-50225400	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr7:50224600-50225400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr7:50224600-50225800	Enhancers	Primary B cells from peripheral blood	blood
14	chr7:50224800-50225400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr7:50225000-50226400	Enhancers	Primary hematopoietic stem cells short term culture	blood

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

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