Variant report

Variant	rs4666621
Chromosome Location	chr2:184097520-184097521
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10174749	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10931071	0.84[CEU][hapmap];0.83[CHB][hapmap];0.87[GIH][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes]
rs13400995	0.98[ASN][1000 genomes]
rs1462530	0.88[ASN][1000 genomes]
rs1516242	1.00[ASW][hapmap];1.00[YRI][hapmap]
rs16824185	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1979359	0.91[EUR][1000 genomes]
rs2368358	0.91[EUR][1000 genomes]
rs4666900	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6717880	0.88[ASN][1000 genomes]
rs7567074	0.83[CHB][hapmap]
rs7605798	0.92[EUR][1000 genomes]
rs898946	0.91[EUR][1000 genomes]
rs9679439	0.92[EUR][1000 genomes]
rs981867	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv3067	chr2:184079419-184119957	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
6	nsv508187	chr2:184080265-184100539	Enhancers Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
7	esv2763254	chr2:184084153-184097520	Enhancers Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
8	nsv999917	chr2:184084153-184102657	Enhancers Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
9	nsv1011473	chr2:184084153-184104561	Enhancers Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
10	nsv1007287	chr2:184084153-184106849	Weak transcription Enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
11	nsv1014008	chr2:184085441-184111385	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:184096600-184102000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:184096800-184097600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr2:184097000-184097600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:184097000-184097600	Enhancers	Fetal Lung	lung

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

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