Variant report

Variant	rs12359503
Chromosome Location	chr10:116374736-116374737
allele	C/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: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10444096	1.00[AFR][1000 genomes]
rs11196804	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11196806	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11196810	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11196813	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11196814	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11196825	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11196826	0.86[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs11196841	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs11196854	1.00[AFR][1000 genomes]
rs12146316	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12360417	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12763337	0.81[ASN][1000 genomes]
rs12768716	1.00[AFR][1000 genomes]
rs12772864	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs17719647	0.86[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs34811081	0.87[EUR][1000 genomes]
rs4237504	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4751620	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4752039	0.94[ASN][1000 genomes]
rs4752040	0.94[ASN][1000 genomes]
rs4752044	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4752047	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4752071	0.83[ASN][1000 genomes]
rs955634	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[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	chr10:116360600-116380600	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	chr10:116365400-116380600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr10:116365400-116382400	Weak transcription	Brain Hippocampus Middle	brain
9	chr10:116365600-116375000	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr10:116365600-116378400	Weak transcription	Aorta	Aorta
11	chr10:116365800-116378400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr10:116365800-116382000	Weak transcription	Gastric	stomach
13	chr10:116367800-116382600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr10:116368600-116376400	Enhancers	Liver	Liver
15	chr10:116368600-116376400	Enhancers	Right Atrium	heart
16	chr10:116370600-116382600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr10:116371000-116376200	Enhancers	Stomach Mucosa	stomach
18	chr10:116371400-116376600	Enhancers	Right Ventricle	heart
19	chr10:116371600-116375000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr10:116371600-116375600	Weak transcription	NHDF-Ad	bronchial
21	chr10:116371800-116382400	Weak transcription	HMEC	breast
22	chr10:116372000-116375000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr10:116372000-116382400	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr10:116372000-116383600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr10:116372200-116382200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr10:116372400-116375400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr10:116372400-116382200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr10:116372400-116382600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr10:116373200-116376400	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr10:116373400-116375200	Enhancers	Pancreas	Pancrea
31	chr10:116373400-116376200	Enhancers	Small Intestine	intestine
32	chr10:116373600-116375600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr10:116373600-116375800	Enhancers	Rectal Mucosa Donor 29	rectum
34	chr10:116373600-116376400	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr10:116373800-116375000	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr10:116373800-116375400	Weak transcription	Brain Anterior Caudate	brain
37	chr10:116373800-116375800	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr10:116373800-116378400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr10:116374000-116375000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr10:116374000-116375000	Weak transcription	Stomach Smooth Muscle	stomach
41	chr10:116374000-116375000	Weak transcription	A549	lung
42	chr10:116374200-116375000	Weak transcription	Left Ventricle	heart
43	chr10:116374200-116375000	Weak transcription	Lung	lung
44	chr10:116374200-116375000	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr10:116374200-116375200	Weak transcription	Adipose Nuclei	Adipose
46	chr10:116374200-116375200	Weak transcription	Fetal Heart	heart
47	chr10:116374200-116376000	Weak transcription	Esophagus	oesophagus
48	chr10:116374400-116375200	Weak transcription	Fetal Intestine Large	intestine
49	chr10:116374400-116378200	Weak transcription	HSMMtube	muscle
50	chr10:116374400-116382000	Weak transcription	HepG2	liver

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