Variant report

Variant	rs12998350
Chromosome Location	chr2:64596035-64596036
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs34701418	1.00[AFR][1000 genomes]
rs34902109	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs35292272	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71424121	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013132	chr2:64235175-64631084	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer 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 lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1006553	chr2:64339907-64764771	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv834244	chr2:64480943-64646259	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
4	nsv874238	chr2:64575738-64614241	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64591200-64599000	Weak transcription	Esophagus	oesophagus
2	chr2:64591400-64598400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:64591800-64602600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:64591800-64602600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:64592800-64603600	Weak transcription	Pancreas	Pancrea
6	chr2:64594800-64597200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:64595400-64597400	Enhancers	HMEC	breast
8	chr2:64595400-64601000	Weak transcription	Right Atrium	heart
9	chr2:64595600-64596800	Enhancers	NHEK	skin
10	chr2:64595600-64627800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr2:64595800-64597400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr2:64595800-64597600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:64595800-64598400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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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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