Variant report

Variant	rs12074805
Chromosome Location	chr1:93269144-93269145
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11164793	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11164794	1.00[EUR][1000 genomes]
rs11164795	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11164797	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11164802	1.00[EUR][1000 genomes]
rs11164817	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11164834	1.00[EUR][1000 genomes]
rs12059319	1.00[EUR][1000 genomes]
rs12061768	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12064459	1.00[EUR][1000 genomes]
rs12069560	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12077455	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12078923	1.00[EUR][1000 genomes]
rs12082513	0.89[AFR][1000 genomes]
rs12084062	1.00[EUR][1000 genomes]
rs12084412	1.00[EUR][1000 genomes]
rs12091803	1.00[EUR][1000 genomes]
rs12092810	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17271666	1.00[EUR][1000 genomes]
rs28716853	1.00[EUR][1000 genomes]
rs57115390	1.00[EUR][1000 genomes]
rs6700752	1.00[EUR][1000 genomes]
rs72968072	1.00[EUR][1000 genomes]
rs72968080	1.00[EUR][1000 genomes]
rs72968097	1.00[EUR][1000 genomes]
rs72969937	1.00[EUR][1000 genomes]
rs72969957	1.00[EUR][1000 genomes]
rs72969976	1.00[EUR][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	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv947289	chr1:93251307-93276080	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93258000-93270200	Weak transcription	Right Atrium	heart
2	chr1:93258800-93269800	Weak transcription	Fetal Heart	heart
3	chr1:93261200-93270200	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr1:93261600-93270000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:93263800-93270600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:93264000-93269800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr1:93264000-93269800	Weak transcription	NH-A	brain
8	chr1:93264400-93269400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:93268600-93269800	Weak transcription	Osteobl	bone
10	chr1:93268600-93271000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:93268800-93271200	Enhancers	HUVEC	blood vessel
12	chr1:93268800-93272200	Enhancers	Placenta	Placenta
13	chr1:93269000-93270000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:93269000-93270000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr1:93269000-93270200	Weak transcription	HepG2	liver

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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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