Variant report

Variant	rs4636162
Chromosome Location	chr8:130639540-130639541
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 3 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10100356	0.84[GIH][hapmap];0.91[MEX][hapmap]
rs16904127	0.89[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv612230	chr8:130624121-130661901	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4636162	PHF20L1	cis	cerebellum	SCAN
rs4636162	FAM49B	cis	cerebellum	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130636800-130651600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr8:130638200-130647600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:130638600-130639800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr8:130638600-130642800	Enhancers	NHEK	skin
5	chr8:130638800-130640200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:130638800-130642800	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr8:130639000-130639800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:130639200-130639600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr8:130639400-130639800	Enhancers	Brain Cingulate Gyrus	brain
10	chr8:130639400-130640200	Enhancers	Fetal Muscle Leg	muscle
11	chr8:130639400-130640400	Enhancers	K562	blood
12	chr8:130639400-130641400	Enhancers	Brain Germinal Matrix	brain

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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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