Variant report

Variant	rs12038893
Chromosome Location	chr1:225849637-225849638
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10429871	0.90[ASN][1000 genomes]
rs12027872	0.86[ASN][1000 genomes]
rs12033453	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12038461	0.96[ASN][1000 genomes]
rs12039453	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs12043837	1.00[CHB][hapmap];0.83[JPT][hapmap];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs16845078	1.00[CEU][hapmap]
rs16845153	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs17502858	1.00[CEU][hapmap]
rs17569049	1.00[CEU][hapmap]
rs1870834	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56793390	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs74147627	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[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	nsv832725	chr1:225726998-225910121	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv832736	chr1:225815717-225968619	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 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	chr1:225842000-225865000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:225843000-225852400	Weak transcription	Psoas Muscle	Psoas
3	chr1:225844000-225854000	Weak transcription	Fetal Lung	lung
4	chr1:225845600-225850200	Weak transcription	Lung	lung
5	chr1:225845600-225852200	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr1:225845600-225858400	Weak transcription	Right Atrium	heart
7	chr1:225846000-225858000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:225846400-225850200	Weak transcription	Aorta	Aorta
9	chr1:225848200-225850000	Enhancers	Rectal Smooth Muscle	rectum
10	chr1:225848200-225851200	Enhancers	Colon Smooth Muscle	Colon
11	chr1:225848400-225854000	Weak transcription	HUVEC	blood vessel
12	chr1:225848800-225850200	Weak transcription	Fetal Stomach	stomach
13	chr1:225849000-225850000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:225849000-225853800	Weak transcription	Adipose Nuclei	Adipose
15	chr1:225849400-225850600	Enhancers	Fetal Heart	heart
16	chr1:225849600-225851200	Weak transcription	Stomach Smooth Muscle	stomach

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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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