Variant report

Variant	rs2483597
Chromosome Location	chr10:116373022-116373023
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:116372918..116375665-chr10:116413630..116415151,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1041623	0.96[CEU][hapmap];0.81[CHB][hapmap];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2483519	0.84[CEU][hapmap]
rs2483594	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2483598	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2483607	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4751625	0.84[CEU][hapmap]
rs4752090	0.80[CEU][hapmap]
rs7904453	0.87[CEU][hapmap]

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:59 , 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	chr10:116360600-116380600	Weak transcription	Primary hematopoietic stem cells	blood
4	chr10:116361400-116379000	Weak transcription	Fetal Muscle Trunk	muscle
5	chr10:116361600-116378200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr10:116365000-116382400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr10:116365200-116373600	Weak transcription	Stomach Smooth Muscle	stomach
8	chr10:116365400-116380600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr10:116365400-116382400	Weak transcription	Brain Hippocampus Middle	brain
10	chr10:116365600-116375000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr10:116365600-116378400	Weak transcription	Aorta	Aorta
12	chr10:116365800-116378400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr10:116365800-116382000	Weak transcription	Gastric	stomach
14	chr10:116366600-116373200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr10:116367800-116382600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr10:116368200-116373400	Weak transcription	Pancreas	Pancrea
17	chr10:116368600-116376400	Enhancers	Liver	Liver
18	chr10:116368600-116376400	Enhancers	Right Atrium	heart
19	chr10:116369000-116373800	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr10:116369600-116373400	Enhancers	Fetal Heart	heart
21	chr10:116369600-116374200	Enhancers	Left Ventricle	heart
22	chr10:116370400-116373400	Weak transcription	Psoas Muscle	Psoas
23	chr10:116370600-116382600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr10:116371000-116373200	Enhancers	Rectal Mucosa Donor 29	rectum
25	chr10:116371000-116376200	Enhancers	Stomach Mucosa	stomach
26	chr10:116371200-116373200	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr10:116371200-116374200	Enhancers	Adipose Nuclei	Adipose
28	chr10:116371400-116373800	Weak transcription	Colonic Mucosa	Colon
29	chr10:116371400-116376600	Enhancers	Right Ventricle	heart
30	chr10:116371600-116374200	Enhancers	Esophagus	oesophagus
31	chr10:116371600-116375000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr10:116371600-116375600	Weak transcription	NHDF-Ad	bronchial
33	chr10:116371800-116373400	Weak transcription	Lung	lung
34	chr10:116371800-116373800	Enhancers	Pancreatic Islets	Pancreatic Islet
35	chr10:116371800-116374000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr10:116371800-116374400	Enhancers	Duodenum Mucosa	Duodenum
37	chr10:116371800-116374400	Enhancers	Fetal Intestine Large	intestine
38	chr10:116371800-116374400	Enhancers	Fetal Intestine Small	intestine
39	chr10:116371800-116382400	Weak transcription	HMEC	breast
40	chr10:116372000-116373200	Weak transcription	Brain Anterior Caudate	brain
41	chr10:116372000-116373400	Weak transcription	HSMMtube	muscle
42	chr10:116372000-116375000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr10:116372000-116382400	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr10:116372000-116383600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr10:116372200-116382200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr10:116372400-116373200	Weak transcription	Brain Cingulate Gyrus	brain
47	chr10:116372400-116373600	Flanking Active TSS	A549	lung
48	chr10:116372400-116375400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr10:116372400-116382200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr10:116372400-116382600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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