Variant report

Variant	rs1462531
Chromosome Location	chr2:184095979-184095980
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs17707250	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17707395	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17707433	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17707584	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17708186	0.81[CEU][hapmap];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17757979	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17758140	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17759033	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17759145	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62188074	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62188079	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62188084	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62188085	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62188088	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62188095	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62188096	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62188098	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62188100	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv875485	chr2:183827018-184195265	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1010799	chr2:183855680-184244721	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv536072	chr2:183855680-184244721	Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv875486	chr2:184016627-184095979	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv3067	chr2:184079419-184119957	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
7	nsv508187	chr2:184080265-184100539	Enhancers Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
8	esv2763254	chr2:184084153-184097520	Enhancers Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
9	nsv999917	chr2:184084153-184102657	Enhancers Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
10	nsv1011473	chr2:184084153-184104561	Enhancers Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
11	nsv1007287	chr2:184084153-184106849	Weak transcription Enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
12	nsv1014008	chr2:184085441-184111385	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
13	nsv517040	chr2:184085788-184095979	Enhancers Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
14	nsv583932	chr2:184085788-184095979	Enhancers Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:184085200-184097000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:184092200-184096800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr2:184094000-184096600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:184095200-184096000	Enhancers	Fetal Muscle Leg	muscle
5	chr2:184095800-184096000	Enhancers	Brain Hippocampus Middle	brain

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

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