Variant report

Variant	rs1323443
Chromosome Location	chr10:116516547-116516548
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17092493	1.00[AMR][1000 genomes]
rs59116647	1.00[AMR][1000 genomes]
rs61078246	1.00[AMR][1000 genomes]
rs73357617	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73362063	1.00[AMR][1000 genomes]
rs73362076	1.00[AMR][1000 genomes]
rs73371871	1.00[AMR][1000 genomes]
rs73373722	1.00[AMR][1000 genomes]
rs73373727	1.00[AMR][1000 genomes]
rs73373777	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs763863	1.00[AMR][1000 genomes]
rs7911471	1.00[AMR][1000 genomes]
rs7914014	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1037308	chr10:116141946-116519765	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv540780	chr10:116141946-116519765	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv949138	chr10:116311531-116874477	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1038050	chr10:116315109-116895719	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv533027	chr10:116344641-116856352	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	esv3435429	chr10:116394152-117006347	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:116509000-116517200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr10:116513800-116527000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr10:116514600-116517800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr10:116514800-116517400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr10:116514800-116517600	Weak transcription	NHEK	skin
6	chr10:116514800-116517800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr10:116515000-116517200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr10:116515000-116517200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr10:116515000-116517200	Weak transcription	HMEC	breast
10	chr10:116515000-116517400	Weak transcription	Brain Cingulate Gyrus	brain
11	chr10:116515000-116518000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr10:116515000-116519400	Weak transcription	Brain Substantia Nigra	brain
13	chr10:116515000-116527400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr10:116515200-116517600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr10:116515200-116518200	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr10:116515400-116516600	Weak transcription	Brain Anterior Caudate	brain
17	chr10:116515400-116516600	Weak transcription	Fetal Heart	heart
18	chr10:116515400-116521200	Weak transcription	Right Ventricle	heart
19	chr10:116515600-116516600	Weak transcription	Primary hematopoietic stem cells	blood
20	chr10:116515600-116517400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr10:116515600-116517600	Weak transcription	Left Ventricle	heart
22	chr10:116515600-116521000	Weak transcription	Right Atrium	heart
23	chr10:116515600-116524400	Weak transcription	Adipose Nuclei	Adipose
24	chr10:116515600-116526200	Weak transcription	Fetal Intestine Small	intestine
25	chr10:116516000-116516800	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr10:116516200-116516800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr10:116516200-116519600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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