Variant report

Variant	rs4951682
Chromosome Location	chr1:210804430-210804431
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs4951497	0.80[MKK][hapmap];0.87[YRI][hapmap]
rs4951675	0.94[CHB][hapmap];0.89[CHD][hapmap];0.90[JPT][hapmap];0.87[YRI][hapmap];0.93[ASN][1000 genomes]
rs4951688	0.88[ASN][1000 genomes]
rs6658987	0.89[CHB][hapmap];0.81[GIH][hapmap];0.82[JPT][hapmap];0.91[LWK][hapmap];0.88[MEX][hapmap];0.90[MKK][hapmap];0.93[YRI][hapmap];0.83[AFR][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	nsv873148	chr1:210665583-210994339	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv522480	chr1:210779936-210848344	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA miRNA target site	n/a	inside rSNPs	diseases
3	esv1825229	chr1:210789477-210854976	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA miRNA target site	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4951682	CR2	cis	cerebellum	SCAN
rs4951682	AVPR1B	cis	parietal	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210790600-210807000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:210795400-210822600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr1:210795800-210806600	Weak transcription	Primary hematopoietic stem cells	blood
4	chr1:210798600-210806200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr1:210799000-210804600	Weak transcription	Brain Angular Gyrus	brain
6	chr1:210799000-210804600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr1:210799200-210805000	Weak transcription	Brain Anterior Caudate	brain
8	chr1:210799200-210807000	Weak transcription	HSMM	muscle
9	chr1:210801000-210806600	Weak transcription	Right Atrium	heart
10	chr1:210801600-210823000	Weak transcription	Aorta	Aorta
11	chr1:210802000-210804600	Weak transcription	Brain Hippocampus Middle	brain
12	chr1:210802000-210804600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr1:210802000-210815000	Weak transcription	Pancreas	Pancrea
14	chr1:210803800-210804600	Strong transcription	HSMMtube	muscle
15	chr1:210804200-210804800	Weak transcription	Left Ventricle	heart
16	chr1:210804400-210805000	Enhancers	Brain Substantia Nigra	brain
17	chr1:210804400-210805600	Enhancers	Fetal Heart	heart

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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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