Variant report

Variant	rs11563253
Chromosome Location	chr2:234890972-234890973
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11562970	1.00[YRI][hapmap]
rs11562993	1.00[YRI][hapmap]
rs11563030	1.00[AMR][1000 genomes]
rs11563031	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11563032	1.00[AMR][1000 genomes]
rs11563126	1.00[YRI][hapmap]
rs11563127	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11563128	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11563129	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2190952	1.00[AMR][1000 genomes]
rs28901878	1.00[AMR][1000 genomes]
rs28901880	1.00[YRI][hapmap];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:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234882400-234892200	Enhancers	NHLF	lung
2	chr2:234886200-234891600	Weak transcription	Fetal Brain Male	brain
3	chr2:234886200-234898000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr2:234886200-234898200	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr2:234886400-234892400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:234886400-234901200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:234887800-234891800	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr2:234887800-234892600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:234888200-234892800	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr2:234888600-234892800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr2:234888800-234891400	Enhancers	NHDF-Ad	bronchial
12	chr2:234889200-234892600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:234889600-234892200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:234889600-234892200	Enhancers	HSMM	muscle
15	chr2:234889600-234892200	Enhancers	NHEK	skin
16	chr2:234889800-234891000	Enhancers	Fetal Intestine Large	intestine
17	chr2:234889800-234891200	Enhancers	NH-A	brain
18	chr2:234889800-234891600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr2:234890000-234891000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:234890000-234892000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr2:234890000-234892000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:234890000-234892600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:234890600-234891400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr2:234890600-234891400	Enhancers	A549	lung
25	chr2:234890800-234891000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:234890800-234891000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
27	chr2:234890800-234891000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr2:234890800-234891000	Flanking Active TSS	HepG2	liver
29	chr2:234890800-234891000	Flanking Active TSS	HMEC	breast
30	chr2:234890800-234891200	Flanking Active TSS	Liver	Liver
31	chr2:234890800-234891400	Enhancers	Placenta Amnion	Placenta Amnion
32	chr2:234890800-234891400	Flanking Active TSS	Osteobl	bone
33	chr2:234890800-234891800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr2:234890800-234891800	Flanking Active TSS	HSMMtube	muscle
35	chr2:234890800-234892000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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