Variant report

Variant	rs7589635
Chromosome Location	chr2:86579685-86579686
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1105865	0.82[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs12714182	0.89[LWK][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes]
rs13387570	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13425101	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56026070	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56673455	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6547685	0.82[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs6706736	0.87[ASN][1000 genomes]
rs6743884	0.87[ASN][1000 genomes]
rs6751871	0.82[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs6755760	0.82[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7586057	0.92[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	esv3412938	chr2:86370969-86867936	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs7589635	IMMT	cis	cerebellum	SCAN
rs7589635	KRCC1	cis	cerebellum	SCAN
rs7589635	MRPL35	cis	cerebellum	SCAN
rs7589635	VPS24	cis	parietal	SCAN
rs7589635	MRPL35	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86577000-86581800	Weak transcription	Right Atrium	heart
2	chr2:86578800-86580400	Enhancers	Hela-S3	cervix
3	chr2:86578800-86580600	Enhancers	Pancreas	Pancrea
4	chr2:86579200-86579800	Enhancers	Fetal Intestine Large	intestine
5	chr2:86579200-86580400	Enhancers	Psoas Muscle	Psoas
6	chr2:86579200-86580600	Bivalent Enhancer	Fetal Muscle Leg	muscle
7	chr2:86579200-86580600	Enhancers	HSMMtube	muscle
8	chr2:86579400-86579800	Enhancers	Duodenum Mucosa	Duodenum
9	chr2:86579400-86579800	Enhancers	Fetal Intestine Small	intestine
10	chr2:86579400-86579800	Enhancers	Fetal Muscle Trunk	muscle
11	chr2:86579400-86579800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
12	chr2:86579400-86579800	Bivalent Enhancer	A549	lung
13	chr2:86579400-86580000	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr2:86579600-86579800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr2:86579600-86580400	Enhancers	Skeletal Muscle Male	skeletal muscle

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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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