Variant report

Variant	rs4319596
Chromosome Location	chr12:12564051-12564052
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10845537	0.83[AMR][1000 genomes]
rs11532310	0.84[AMR][1000 genomes]
rs2417187	0.82[AMR][1000 genomes]
rs7954752	0.80[AMR][1000 genomes]
rs7969270	0.84[AMR][1000 genomes];0.82[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	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv1812889	chr12:12510842-12593406	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12537200-12576000	Weak transcription	Primary B cells from cord blood	blood
2	chr12:12552000-12569000	Weak transcription	Hela-S3	cervix
3	chr12:12557200-12572400	Weak transcription	Primary T cells from cord blood	blood
4	chr12:12557800-12565000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:12558000-12586000	Weak transcription	Pancreas	Pancrea
6	chr12:12559200-12564800	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr12:12559400-12564800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:12560200-12564800	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr12:12560200-12564800	Weak transcription	HepG2	liver
10	chr12:12562000-12564200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr12:12562000-12564800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr12:12562000-12565600	Weak transcription	GM12878-XiMat	blood
13	chr12:12562200-12564600	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr12:12562400-12576200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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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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