Variant report

Variant	rs4971224
Chromosome Location	chr1:203390784-203390785
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10753942	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10920639	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16851575	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4638182	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[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	esv2762217	chr1:203378754-203599192	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4971224	TMEM81	cis	parietal	SCAN
rs4971224	NEK7	cis	cerebellum	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:203379000-203392000	Weak transcription	Duodenum Mucosa	Duodenum
2	chr1:203379000-203394000	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr1:203388400-203391600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr1:203389000-203395400	Enhancers	Fetal Intestine Large	intestine
5	chr1:203389400-203392800	Enhancers	Fetal Stomach	stomach
6	chr1:203389800-203391400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:203390600-203391000	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr1:203390600-203391000	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr1:203390600-203392600	Genic enhancers	Fetal Intestine Small	intestine

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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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