Variant report

Variant	rs309263
Chromosome Location	chr2:7209215-7209216
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10445713	0.80[EUR][1000 genomes]
rs2460409	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2460410	0.80[EUR][1000 genomes]
rs28293	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs309264	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs309268	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs309273	0.82[EUR][1000 genomes]
rs309276	0.81[EUR][1000 genomes]
rs309278	0.96[ASN][1000 genomes]
rs309283	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs309284	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs309286	0.88[EUR][1000 genomes]
rs309293	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs309295	0.88[EUR][1000 genomes]
rs417248	0.82[EUR][1000 genomes]
rs89983	0.88[EUR][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	nsv469394	chr2:7197199-7230988	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv580914	chr2:7197199-7230988	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv915888	chr2:7197783-7461967	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:7189400-7213800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:7194200-7234000	Weak transcription	Pancreas	Pancrea
3	chr2:7194400-7210800	Weak transcription	Lung	lung
4	chr2:7195000-7217000	Weak transcription	Fetal Muscle Leg	muscle
5	chr2:7203000-7211400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr2:7203000-7214400	Weak transcription	Fetal Kidney	kidney
7	chr2:7203000-7217600	Weak transcription	Adipose Nuclei	Adipose
8	chr2:7203400-7214000	Weak transcription	Fetal Stomach	stomach
9	chr2:7204000-7214000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:7204400-7218600	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr2:7205000-7210600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr2:7205000-7210800	Weak transcription	Primary T cells from cord blood	blood
13	chr2:7205400-7211400	Weak transcription	Dnd41	blood
14	chr2:7208200-7209400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr2:7209000-7211800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr2:7209200-7209400	Enhancers	Primary T cells fromperipheralblood	blood

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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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