Variant report

Variant	rs2483591
Chromosome Location	chr10:116367884-116367885
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10787539	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10787540	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10787541	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11196798	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11196800	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11196802	0.98[ASN][1000 genomes]
rs7080854	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7094673	0.83[EUR][1000 genomes]
rs71484950	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:116345000-116382400	Weak transcription	HSMM	muscle
2	chr10:116354800-116378600	Weak transcription	Fetal Stomach	stomach
3	chr10:116355400-116371000	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr10:116360600-116370600	Weak transcription	Lung	lung
5	chr10:116360600-116380600	Weak transcription	Primary hematopoietic stem cells	blood
6	chr10:116361400-116379000	Weak transcription	Fetal Muscle Trunk	muscle
7	chr10:116361600-116378200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr10:116364000-116368200	Enhancers	Adipose Nuclei	Adipose
9	chr10:116365000-116371400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr10:116365000-116372400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr10:116365000-116382400	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr10:116365200-116371600	Weak transcription	Brain Cingulate Gyrus	brain
13	chr10:116365200-116371800	Weak transcription	Duodenum Mucosa	Duodenum
14	chr10:116365200-116373600	Weak transcription	Stomach Smooth Muscle	stomach
15	chr10:116365400-116369800	Weak transcription	Brain Angular Gyrus	brain
16	chr10:116365400-116372400	Weak transcription	Small Intestine	intestine
17	chr10:116365400-116380600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr10:116365400-116382400	Weak transcription	Brain Hippocampus Middle	brain
19	chr10:116365600-116369800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr10:116365600-116375000	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr10:116365600-116378400	Weak transcription	Aorta	Aorta
22	chr10:116365800-116369000	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr10:116365800-116369800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr10:116365800-116370000	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr10:116365800-116371200	Weak transcription	Hela-S3	cervix
26	chr10:116365800-116371600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr10:116365800-116371600	Weak transcription	Brain Anterior Caudate	brain
28	chr10:116365800-116371800	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr10:116365800-116378400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr10:116365800-116382000	Weak transcription	Gastric	stomach
31	chr10:116366000-116371200	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr10:116366000-116371400	Weak transcription	HepG2	liver
33	chr10:116366600-116369800	Weak transcription	Psoas Muscle	Psoas
34	chr10:116366600-116371600	Weak transcription	Esophagus	oesophagus
35	chr10:116366600-116371800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr10:116366600-116373200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr10:116366800-116368600	Weak transcription	Right Atrium	heart
38	chr10:116366800-116370200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr10:116367200-116368000	Enhancers	HUVEC	blood vessel
40	chr10:116367200-116369000	Weak transcription	Left Ventricle	heart
41	chr10:116367200-116369600	Weak transcription	Right Ventricle	heart
42	chr10:116367600-116368000	Weak transcription	Pancreas	Pancrea
43	chr10:116367600-116369600	Weak transcription	Fetal Heart	heart
44	chr10:116367600-116370000	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr10:116367600-116371000	Weak transcription	Stomach Mucosa	stomach
46	chr10:116367800-116368600	Weak transcription	Liver	Liver
47	chr10:116367800-116371200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr10:116367800-116371200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr10:116367800-116371200	Weak transcription	A549	lung
50	chr10:116367800-116371200	Weak transcription	HMEC	breast

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