Variant report

Variant	rs790676
Chromosome Location	chr12:121192324-121192325
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1168937	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs516105	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs519510	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs526345	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs534803	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs580076	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs589667	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs591845	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs617540	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs618547	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs619074	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs628114	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs662690	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs693018	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs811005	0.89[AFR][1000 genomes];1.00[AMR][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	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1041153	chr12:121171986-121208826	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121168600-121196400	Weak transcription	Fetal Brain Female	brain
2	chr12:121177800-121197800	Weak transcription	Gastric	stomach
3	chr12:121178000-121194400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr12:121179800-121197400	Weak transcription	Spleen	Spleen
5	chr12:121180200-121197400	Weak transcription	Pancreas	Pancrea
6	chr12:121183200-121197600	Weak transcription	Esophagus	oesophagus
7	chr12:121186400-121198400	Weak transcription	Right Ventricle	heart
8	chr12:121186600-121192400	Weak transcription	Fetal Intestine Small	intestine
9	chr12:121189600-121197000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr12:121190400-121197800	Weak transcription	Right Atrium	heart
11	chr12:121191800-121192400	Weak transcription	GM12878-XiMat	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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