Variant report

Variant	rs7607942
Chromosome Location	chr2:212896571-212896572
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10175279	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs10497960	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs12694257	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12994785	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs17343843	1.00[YRI][hapmap]
rs4473336	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs56124618	0.95[ASN][1000 genomes]
rs954310	1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875792	chr2:212824999-212896571	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv584343	chr2:212830200-212906355	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1012269	chr2:212837487-212915640	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv525127	chr2:212839046-212916758	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1011572	chr2:212840066-213152279	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv875798	chr2:212852669-212961992	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv875800	chr2:212856539-212896571	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv875801	chr2:212856539-212929014	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv875802	chr2:212867291-213004603	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv875803	chr2:212874828-212969560	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv1014136	chr2:212883977-212915640	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv875804	chr2:212891401-212997024	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	nsv875805	chr2:212891401-213164837	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7607942	ERBB4	cis	cerebellum	SCAN
rs7607942	VWC2L	cis	parietal	SCAN
rs7607942	UNC80	cis	cerebellum	SCAN

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:212887400-212896600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr2:212893000-212896800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:212893200-212902000	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr2:212894800-212899800	Weak transcription	Fetal Heart	heart
5	chr2:212895000-212898600	Enhancers	Osteobl	bone
6	chr2:212895000-212898800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:212895600-212897200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr2:212895600-212898200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:212895600-212898400	Enhancers	NH-A	brain
10	chr2:212896200-212897200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:212896200-212897200	Enhancers	Muscle Satellite Cultured Cells	--
12	chr2:212896200-212897200	Enhancers	NHDF-Ad	bronchial
13	chr2:212896200-212897200	Enhancers	NHLF	lung
14	chr2:212896200-212897600	Enhancers	Brain Anterior Caudate	brain
15	chr2:212896200-212897600	Enhancers	HSMMtube	muscle
16	chr2:212896200-212898000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr2:212896200-212898000	Enhancers	HSMM	muscle
18	chr2:212896400-212897600	Enhancers	HUVEC	blood vessel
19	chr2:212896400-212897800	Enhancers	Hela-S3	cervix

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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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