Variant report

Variant	rs2430482
Chromosome Location	chr7:104533932-104533933
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1075228	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17173	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73184020	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831086	chr7:104422503-104596766	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv981792	chr7:104524351-104538104	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104524800-104534600	Weak transcription	Fetal Kidney	kidney
2	chr7:104524800-104535200	Weak transcription	Colonic Mucosa	Colon
3	chr7:104524800-104540800	Weak transcription	Brain Anterior Caudate	brain
4	chr7:104525400-104534600	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr7:104525400-104540400	Weak transcription	Brain Substantia Nigra	brain
6	chr7:104525600-104534400	Strong transcription	Fetal Intestine Small	intestine
7	chr7:104527800-104539600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr7:104531400-104541800	Weak transcription	Pancreas	Pancrea
9	chr7:104531400-104542000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr7:104532400-104535000	Weak transcription	Fetal Intestine Large	intestine
11	chr7:104532600-104534600	Enhancers	GM12878-XiMat	blood
12	chr7:104532800-104534600	Weak transcription	Duodenum Mucosa	Duodenum

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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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