Variant report

Variant	rs2638851
Chromosome Location	chr12:44402237-44402238
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10785490	1.00[AMR][1000 genomes]
rs10880615	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1688727	1.00[AMR][1000 genomes]
rs1701090	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1910903	1.00[AMR][1000 genomes]
rs2638848	1.00[AMR][1000 genomes]
rs2638850	1.00[AMR][1000 genomes]
rs2638852	1.00[AMR][1000 genomes]
rs2699990	1.00[AMR][1000 genomes]
rs2933345	1.00[AMR][1000 genomes]
rs712105	1.00[AMR][1000 genomes]
rs7137909	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7303328	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs842200	1.00[AMR][1000 genomes]
rs842201	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs842203	1.00[AMR][1000 genomes]
rs842204	1.00[AMR][1000 genomes]
rs842205	1.00[AMR][1000 genomes]
rs863579	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832390	chr12:44318071-44512114	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1041188	chr12:44331098-44528712	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv832391	chr12:44394137-44552555	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44383200-44402400	Weak transcription	HSMMtube	muscle
2	chr12:44390800-44439200	Weak transcription	Esophagus	oesophagus
3	chr12:44394600-44403200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr12:44398000-44402400	Weak transcription	HSMM	muscle
5	chr12:44401400-44403600	ZNF genes & repeats	Fetal Intestine Large	intestine
6	chr12:44401400-44403800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr12:44401400-44404000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:44401600-44403400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
9	chr12:44401800-44402600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr12:44401800-44403000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
11	chr12:44401800-44403200	ZNF genes & repeats	HMEC	breast
12	chr12:44402000-44432200	Weak transcription	Aorta	Aorta

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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