Variant report

Variant	rs2248365
Chromosome Location	chr12:119123343-119123344
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10851006	0.84[ASN][1000 genomes]
rs11069011	0.81[ASN][1000 genomes]
rs11069050	0.85[ASN][1000 genomes]
rs11614043	0.84[ASN][1000 genomes]
rs11614956	0.85[ASN][1000 genomes]
rs1402339	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1402340	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1818055	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1851093	0.81[JPT][hapmap]
rs2203993	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2248364	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2649957	0.97[EUR][1000 genomes]
rs2649958	0.97[EUR][1000 genomes]
rs2682776	0.90[EUR][1000 genomes]
rs2682777	0.97[EUR][1000 genomes]
rs2730747	0.97[EUR][1000 genomes]
rs7301920	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv930978	chr12:118866332-119450600	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv1039515	chr12:119085196-119218918	ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1045363	chr12:119091734-119219659	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv519756	chr12:119092357-119227242	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119118400-119127800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:119118400-119131200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr12:119118800-119123800	Weak transcription	Fetal Muscle Leg	muscle
4	chr12:119120600-119126400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr12:119122800-119125000	Enhancers	Fetal Intestine Large	intestine
6	chr12:119123000-119124600	Enhancers	Fetal Intestine Small	intestine
7	chr12:119123200-119123400	Enhancers	Colon Smooth Muscle	Colon
8	chr12:119123200-119124400	Enhancers	Duodenum Mucosa	Duodenum
9	chr12:119123200-119125400	Enhancers	Rectal Smooth Muscle	rectum

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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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