Variant report

Variant	rs12130838
Chromosome Location	chr1:193374119-193374120
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:15)

rs_ID	r²[population]
rs12116651	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12117877	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12133955	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12137353	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12140787	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12141455	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17528639	0.86[AMR][1000 genomes]
rs17529089	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17601491	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72740302	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72742104	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72742110	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72742114	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72742119	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72742120	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997891	chr1:193271839-193566441	Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1004003	chr1:193322299-193477254	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv535253	chr1:193322299-193477254	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv832159	chr1:193342434-193525072	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv998663	chr1:193343230-193574004	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv535254	chr1:193343230-193574004	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193357800-193375600	Weak transcription	Fetal Lung	lung
2	chr1:193369600-193378000	Weak transcription	Aorta	Aorta
3	chr1:193370400-193377400	Weak transcription	HSMMtube	muscle
4	chr1:193370600-193377200	Weak transcription	Pancreas	Pancrea
5	chr1:193371800-193377400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr1:193372400-193375000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr1:193372400-193375800	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr1:193372600-193375600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr1:193373000-193376200	Weak transcription	Liver	Liver
10	chr1:193373000-193377200	Weak transcription	Fetal Intestine Large	intestine
11	chr1:193373400-193376200	Weak transcription	Primary T cells from cord blood	blood
12	chr1:193373600-193376000	Weak transcription	Fetal Kidney	kidney
13	chr1:193373800-193381000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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