Variant report

Variant	rs2497675
Chromosome Location	chr10:116390054-116390055
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:116380101..116382698-chr10:116387153..116390968,3	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs2483602	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2483604	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2483605	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2483608	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2483610	0.85[AFR][1000 genomes]
rs2483611	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2483613	0.84[AFR][1000 genomes]
rs2497669	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2497670	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2497671	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2497674	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2497676	0.89[AFR][1000 genomes];1.00[AMR][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	chr10:116378800-116391200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr10:116383200-116391200	Weak transcription	Lung	lung
3	chr10:116384000-116391000	Weak transcription	Fetal Intestine Small	intestine
4	chr10:116384200-116390800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr10:116384400-116390200	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr10:116384400-116390400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr10:116385000-116390400	Weak transcription	HUVEC	blood vessel
8	chr10:116385200-116391000	Weak transcription	Stomach Mucosa	stomach
9	chr10:116385200-116391200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr10:116385400-116390800	Weak transcription	Primary hematopoietic stem cells	blood
11	chr10:116385400-116391000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr10:116385600-116390200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr10:116385600-116390800	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr10:116386200-116391000	Weak transcription	Gastric	stomach
15	chr10:116386800-116391000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr10:116388200-116392600	Active TSS	Right Ventricle	heart
17	chr10:116388800-116390800	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr10:116389200-116391000	Enhancers	HepG2	liver
19	chr10:116389400-116390200	Enhancers	Hela-S3	cervix
20	chr10:116389400-116390400	Bivalent Enhancer	NHDF-Ad	bronchial
21	chr10:116389600-116390200	Flanking Active TSS	HSMMtube	muscle
22	chr10:116389600-116390600	Enhancers	A549	lung
23	chr10:116389600-116390600	Enhancers	HMEC	breast
24	chr10:116389600-116390800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr10:116389600-116391000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr10:116389600-116391000	Weak transcription	Pancreas	Pancrea
27	chr10:116389600-116391000	Enhancers	NHEK	skin
28	chr10:116389600-116391200	Active TSS	Left Ventricle	heart
29	chr10:116389600-116392600	Active TSS	Right Atrium	heart
30	chr10:116389800-116390200	Bivalent Enhancer	Fetal Lung	lung
31	chr10:116389800-116390800	Enhancers	Adipose Nuclei	Adipose
32	chr10:116389800-116390800	Weak transcription	Fetal Muscle Leg	muscle
33	chr10:116389800-116391000	Bivalent Enhancer	Brain Angular Gyrus	brain
34	chr10:116389800-116391000	Weak transcription	Esophagus	oesophagus
35	chr10:116389800-116391000	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
36	chr10:116390000-116390200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr10:116390000-116390200	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr10:116390000-116390200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
39	chr10:116390000-116390200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
40	chr10:116390000-116390200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr10:116390000-116390200	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
42	chr10:116390000-116390200	Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr10:116390000-116390400	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
44	chr10:116390000-116390400	Bivalent Enhancer	NH-A	brain
45	chr10:116390000-116390800	Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr10:116390000-116390800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr10:116390000-116390800	Active TSS	Liver	Liver
48	chr10:116390000-116390800	Bivalent/Poised TSS	Fetal Brain Female	brain
49	chr10:116390000-116390800	Active TSS	Psoas Muscle	Psoas
50	chr10:116390000-116390800	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle

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