Variant report

Variant	rs2483594
Chromosome Location	chr10:116370791-116370792
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1041623	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2483597	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2483598	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2483607	0.92[ASN][1000 genomes]
rs2497686	0.80[ASN][1000 genomes]
rs7904453	0.80[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:51 , 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	chr10:116360600-116380600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr10:116361400-116379000	Weak transcription	Fetal Muscle Trunk	muscle
6	chr10:116361600-116378200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr10:116365000-116371400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr10:116365000-116372400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr10:116365000-116382400	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr10:116365200-116371600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr10:116365200-116371800	Weak transcription	Duodenum Mucosa	Duodenum
12	chr10:116365200-116373600	Weak transcription	Stomach Smooth Muscle	stomach
13	chr10:116365400-116372400	Weak transcription	Small Intestine	intestine
14	chr10:116365400-116380600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr10:116365400-116382400	Weak transcription	Brain Hippocampus Middle	brain
16	chr10:116365600-116375000	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr10:116365600-116378400	Weak transcription	Aorta	Aorta
18	chr10:116365800-116371200	Weak transcription	Hela-S3	cervix
19	chr10:116365800-116371600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr10:116365800-116371600	Weak transcription	Brain Anterior Caudate	brain
21	chr10:116365800-116371800	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr10:116365800-116378400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr10:116365800-116382000	Weak transcription	Gastric	stomach
24	chr10:116366000-116371200	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr10:116366000-116371400	Weak transcription	HepG2	liver
26	chr10:116366600-116371600	Weak transcription	Esophagus	oesophagus
27	chr10:116366600-116371800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr10:116366600-116373200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr10:116367600-116371000	Weak transcription	Stomach Mucosa	stomach
30	chr10:116367800-116371200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr10:116367800-116371200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr10:116367800-116371200	Weak transcription	A549	lung
33	chr10:116367800-116371200	Weak transcription	HMEC	breast
34	chr10:116367800-116371400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr10:116367800-116382600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr10:116368200-116371200	Weak transcription	Adipose Nuclei	Adipose
37	chr10:116368200-116373400	Weak transcription	Pancreas	Pancrea
38	chr10:116368600-116376400	Enhancers	Liver	Liver
39	chr10:116368600-116376400	Enhancers	Right Atrium	heart
40	chr10:116369000-116373800	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr10:116369200-116371600	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr10:116369600-116371000	Enhancers	Right Ventricle	heart
43	chr10:116369600-116373400	Enhancers	Fetal Heart	heart
44	chr10:116369600-116374200	Enhancers	Left Ventricle	heart
45	chr10:116369800-116370800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr10:116370000-116371600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr10:116370000-116372600	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr10:116370400-116371800	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr10:116370400-116373400	Weak transcription	Psoas Muscle	Psoas
50	chr10:116370600-116371800	Enhancers	Lung	lung

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