Variant report

Variant	rs11563030
Chromosome Location	chr2:234897079-234897080
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11562993	0.88[AFR][1000 genomes]
rs11563031	1.00[AMR][1000 genomes]
rs11563032	1.00[AMR][1000 genomes]
rs11563127	1.00[AMR][1000 genomes]
rs11563128	1.00[AMR][1000 genomes]
rs11563129	1.00[AMR][1000 genomes]
rs11563253	1.00[AMR][1000 genomes]
rs2190952	1.00[AMR][1000 genomes]
rs28901878	1.00[AMR][1000 genomes]
rs28901880	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28902182	1.00[AMR][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	nsv1013712	chr2:234558457-235495825	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv532476	chr2:234595695-235134381	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 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	chr2:234886200-234898000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr2:234886200-234898200	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr2:234886400-234901200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:234892200-234897200	Weak transcription	NHLF	lung
5	chr2:234892400-234901000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:234892800-234897400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr2:234893000-234901200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:234893400-234897200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:234893400-234904800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:234895000-234897400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr2:234896600-234903400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr2:234896800-234898200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr2:234896800-234903200	Enhancers	Primary T cells fromperipheralblood	blood
14	chr2:234896800-234903600	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr2:234896800-234905000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr2:234897000-234899000	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr2:234897000-234899400	Enhancers	Liver	Liver

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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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