Variant report

Variant	rs73008238
Chromosome Location	chr2:144923278-144923279
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10496958	1.00[AMR][1000 genomes]
rs10496959	1.00[AMR][1000 genomes]
rs10496960	1.00[AMR][1000 genomes]
rs16823490	1.00[AMR][1000 genomes]
rs16823495	1.00[AMR][1000 genomes]
rs16823497	1.00[AMR][1000 genomes]
rs16823498	1.00[AMR][1000 genomes]
rs16823501	1.00[AMR][1000 genomes]
rs16823512	1.00[AMR][1000 genomes]
rs16823515	1.00[AMR][1000 genomes]
rs16823517	1.00[AMR][1000 genomes]
rs16823525	1.00[AMR][1000 genomes]
rs16823539	1.00[AMR][1000 genomes]
rs16823540	1.00[AMR][1000 genomes]
rs16823544	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16823552	1.00[AMR][1000 genomes]
rs16823556	1.00[AMR][1000 genomes]
rs16823563	1.00[AMR][1000 genomes]
rs16823564	1.00[AMR][1000 genomes]
rs16855310	1.00[AMR][1000 genomes]
rs2042997	1.00[AMR][1000 genomes]
rs6430051	1.00[AMR][1000 genomes]
rs6430052	1.00[AMR][1000 genomes]
rs6760118	1.00[AMR][1000 genomes]
rs73006237	1.00[AMR][1000 genomes]
rs73006270	1.00[AMR][1000 genomes]
rs73006274	1.00[AMR][1000 genomes]
rs73006276	1.00[AMR][1000 genomes]
rs73006286	1.00[AMR][1000 genomes]
rs73006287	1.00[AMR][1000 genomes]
rs73006289	1.00[AMR][1000 genomes]
rs73006290	1.00[AMR][1000 genomes]
rs73006297	1.00[AMR][1000 genomes]
rs73006298	1.00[AMR][1000 genomes]
rs73006302	1.00[AMR][1000 genomes]
rs73008203	1.00[AMR][1000 genomes]
rs73008204	1.00[AMR][1000 genomes]
rs73008206	1.00[AMR][1000 genomes]
rs73008211	1.00[AMR][1000 genomes]
rs73008212	1.00[AMR][1000 genomes]
rs73008213	1.00[AMR][1000 genomes]
rs73008221	1.00[AMR][1000 genomes]
rs73008245	1.00[AMR][1000 genomes]
rs73008248	1.00[AMR][1000 genomes]
rs73008250	1.00[AMR][1000 genomes]
rs7571370	1.00[AMR][1000 genomes]
rs7575019	1.00[AMR][1000 genomes]
rs7585915	1.00[AMR][1000 genomes]
rs7586117	1.00[AMR][1000 genomes]
rs7595013	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532755	chr2:144631279-145270874	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1006344	chr2:144657716-145334899	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv535951	chr2:144657716-145334899	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1067624	chr2:144657717-145425705	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv531413	chr2:144657717-145425705	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv532756	chr2:144746353-145315596	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv1005376	chr2:144803630-144968946	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1013338	chr2:144806920-144969818	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1008032	chr2:144840552-145234229	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription 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	7 gene(s)	inside rSNPs	diseases
10	nsv834396	chr2:144842187-145019465	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv997624	chr2:144906679-145294503	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
12	nsv535952	chr2:144906679-145294503	Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
13	nsv532757	chr2:144922143-145263446	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:144902000-144931200	Weak transcription	Primary B cells from cord blood	blood
2	chr2:144910800-144923600	Weak transcription	NHDF-Ad	bronchial
3	chr2:144913600-144935600	Weak transcription	Fetal Lung	lung
4	chr2:144915200-144931600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:144923000-144923600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:144923000-144923800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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