Variant report

Variant	rs12095957
Chromosome Location	chr1:180699905-180699906
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10914092	1.00[AMR][1000 genomes]
rs10914097	1.00[AMR][1000 genomes]
rs10914099	1.00[AMR][1000 genomes]
rs10914100	1.00[AMR][1000 genomes]
rs12058670	1.00[AMR][1000 genomes]
rs12059839	1.00[AMR][1000 genomes]
rs12060280	1.00[AMR][1000 genomes]
rs12062543	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12062549	1.00[AMR][1000 genomes]
rs12064761	1.00[AMR][1000 genomes]
rs12068825	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12070554	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12073278	1.00[AMR][1000 genomes]
rs12076029	1.00[AMR][1000 genomes]
rs12076333	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12076671	1.00[AMR][1000 genomes]
rs12082348	1.00[AMR][1000 genomes]
rs12083109	1.00[AMR][1000 genomes]
rs12084562	1.00[AMR][1000 genomes]
rs12085100	1.00[AMR][1000 genomes]
rs12087750	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12088793	1.00[AMR][1000 genomes]
rs12089474	1.00[AMR][1000 genomes]
rs12089522	1.00[AMR][1000 genomes]
rs12089583	1.00[AMR][1000 genomes]
rs12089730	1.00[AMR][1000 genomes]
rs12090598	1.00[AMR][1000 genomes]
rs12092799	1.00[AMR][1000 genomes]
rs12093156	1.00[AMR][1000 genomes]
rs12093183	0.86[AFR][1000 genomes]
rs12093933	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12094697	1.00[AMR][1000 genomes]
rs12095275	1.00[AMR][1000 genomes]
rs12096142	1.00[AMR][1000 genomes]
rs12097202	1.00[AMR][1000 genomes]
rs57004467	1.00[AMR][1000 genomes]
rs59193426	1.00[AMR][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	nsv1003359	chr1:180300936-180727561	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
2	nsv872578	chr1:180510771-180842344	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 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	chr1:180687000-180700400	Weak transcription	K562	blood
2	chr1:180691400-180701800	Weak transcription	Left Ventricle	heart
3	chr1:180698000-180704200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:180698400-180700200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:180698800-180703200	Weak transcription	Psoas Muscle	Psoas
6	chr1:180699200-180700600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:180699400-180700200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr1:180699600-180701200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:180699800-180700000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:180699800-180700000	ZNF genes & repeats	Aorta	Aorta
11	chr1:180699800-180700600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet

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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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