Variant report

Variant	rs2483532
Chromosome Location	chr10:116312139-116312140
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:116229710..116232429-chr10:116312044..116314451,2	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17092023	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1999567	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2483561	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2483582	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2497713	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2497714	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4255463	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs914938	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	esv3336522	chr10:116310912-116312672	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:116305000-116317600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr10:116305200-116316000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr10:116305200-116318200	Weak transcription	Fetal Intestine Large	intestine
4	chr10:116307600-116313400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr10:116307600-116316000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr10:116307800-116317600	Weak transcription	Fetal Intestine Small	intestine
7	chr10:116308600-116312600	Weak transcription	Primary B cells from peripheral blood	blood
8	chr10:116308600-116313200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr10:116308600-116315800	Weak transcription	HepG2	liver
10	chr10:116308800-116313200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr10:116309000-116316400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr10:116310600-116313000	Enhancers	Fetal Muscle Leg	muscle
13	chr10:116310800-116312400	Enhancers	Psoas Muscle	Psoas
14	chr10:116310800-116312400	Enhancers	Stomach Mucosa	stomach
15	chr10:116310800-116317400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr10:116311000-116312200	Enhancers	Brain Cingulate Gyrus	brain
17	chr10:116311000-116312200	Enhancers	Brain Germinal Matrix	brain
18	chr10:116311000-116312400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr10:116311000-116312600	Enhancers	Muscle Satellite Cultured Cells	--
20	chr10:116311000-116314000	Weak transcription	Aorta	Aorta
21	chr10:116311000-116317400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr10:116311000-116331400	Weak transcription	Fetal Brain Male	brain
23	chr10:116311200-116312200	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr10:116311200-116312200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr10:116311400-116312200	Enhancers	Brain Hippocampus Middle	brain
26	chr10:116311400-116312200	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr10:116311400-116312200	Enhancers	Rectal Smooth Muscle	rectum
28	chr10:116311600-116312200	Enhancers	Adipose Nuclei	Adipose
29	chr10:116311600-116312600	Enhancers	Liver	Liver
30	chr10:116311600-116312800	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr10:116311600-116336600	Weak transcription	Colonic Mucosa	Colon
32	chr10:116311800-116312400	Enhancers	Fetal Lung	lung
33	chr10:116311800-116312400	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr10:116311800-116312400	Enhancers	Stomach Smooth Muscle	stomach
35	chr10:116311800-116312400	Enhancers	HSMM	muscle
36	chr10:116311800-116312800	Weak transcription	Colon Smooth Muscle	Colon
37	chr10:116311800-116313400	Weak transcription	Brain Angular Gyrus	brain
38	chr10:116311800-116317800	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr10:116312000-116312200	Active TSS	Rectal Mucosa Donor 29	rectum
40	chr10:116312000-116312800	Weak transcription	Brain Anterior Caudate	brain
41	chr10:116312000-116312800	Weak transcription	Left Ventricle	heart
42	chr10:116312000-116312800	Weak transcription	Right Ventricle	heart
43	chr10:116312000-116313400	Weak transcription	Brain Substantia Nigra	brain
44	chr10:116312000-116313400	Weak transcription	Right Atrium	heart
45	chr10:116312000-116313400	Enhancers	HSMMtube	muscle
46	chr10:116312000-116316800	Weak transcription	Lung	lung
47	chr10:116312000-116317200	Enhancers	Fetal Heart	heart
48	chr10:116312000-116324800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr10:116312000-116331000	Weak transcription	Ovary	ovary
50	chr10:116312000-116334600	Weak transcription	Esophagus	oesophagus

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