Variant report

Variant	rs11942834
Chromosome Location	chr2:68636006-68636007
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1382084	0.89[ASN][1000 genomes]
rs3762882	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72624196	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][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	nsv1012694	chr2:68447767-68651086	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv874250	chr2:68579972-68647095	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Strong transcription 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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:68624800-68644800	Weak transcription	Spleen	Spleen
2	chr2:68625600-68638200	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr2:68627400-68638600	Weak transcription	Primary hematopoietic stem cells	blood
4	chr2:68630400-68637400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr2:68630800-68645200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr2:68631000-68637400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr2:68631000-68638400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr2:68631000-68643400	Weak transcription	Left Ventricle	heart
9	chr2:68631600-68638400	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr2:68631600-68638600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr2:68632200-68638400	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr2:68632200-68638400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr2:68632400-68645800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr2:68632800-68638600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr2:68633200-68639200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr2:68633400-68636200	Weak transcription	Primary B cells from peripheral blood	blood
17	chr2:68636000-68636400	Enhancers	Primary B cells from cord blood	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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