Variant report

Variant	rs2483590
Chromosome Location	chr10:116304456-116304457
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	chr10:116302698..116304630-chr10:116307887..116309527,2	MCF-7	breast:

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs11196778	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12413487	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1333688	0.82[AMR][1000 genomes]
rs2483534	0.82[AMR][1000 genomes]
rs2483535	0.82[AMR][1000 genomes]
rs2483536	0.82[AMR][1000 genomes]
rs2483537	0.82[AMR][1000 genomes]
rs2483538	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2483539	0.82[AMR][1000 genomes]
rs2483540	0.82[AMR][1000 genomes]
rs2483541	0.82[AMR][1000 genomes]
rs2483542	0.82[AMR][1000 genomes]
rs2483543	0.80[AMR][1000 genomes]
rs2483544	0.82[AMR][1000 genomes]
rs2483545	0.82[AMR][1000 genomes]
rs2483546	0.82[AMR][1000 genomes]
rs2483548	0.82[AMR][1000 genomes]
rs2483549	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2483550	0.82[AMR][1000 genomes]
rs2483552	0.82[AMR][1000 genomes]
rs2483553	0.82[AMR][1000 genomes]
rs2483554	0.82[AMR][1000 genomes]
rs2483555	0.82[AMR][1000 genomes]
rs2483556	0.82[AMR][1000 genomes]
rs2483557	0.86[AMR][1000 genomes]
rs2483558	0.86[AMR][1000 genomes]
rs2483559	0.85[AMR][1000 genomes]
rs2483560	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2483568	0.87[EUR][1000 genomes]
rs2483583	0.84[EUR][1000 genomes]
rs2497663	0.84[EUR][1000 genomes]
rs2497725	0.82[AMR][1000 genomes]
rs2497726	0.81[AMR][1000 genomes]
rs2497727	0.82[AMR][1000 genomes]
rs2497728	0.82[AMR][1000 genomes]
rs2497729	0.82[AMR][1000 genomes]
rs2497730	0.82[AMR][1000 genomes]
rs2497731	0.82[AMR][1000 genomes]
rs2497732	0.82[AMR][1000 genomes]
rs2497733	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2497735	0.81[AMR][1000 genomes]
rs2497736	0.82[AMR][1000 genomes]
rs2497737	0.82[AMR][1000 genomes]
rs2497738	0.82[AMR][1000 genomes]
rs2497739	0.82[AMR][1000 genomes]
rs2497740	0.85[AMR][1000 genomes]
rs2497741	0.85[AMR][1000 genomes]
rs2497742	0.85[AMR][1000 genomes]
rs2497743	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2497744	0.81[AMR][1000 genomes]
rs2497747	0.88[EUR][1000 genomes]
rs2497748	0.88[EUR][1000 genomes]
rs2497749	0.88[EUR][1000 genomes]
rs4128920	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58938015	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60588618	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7085345	0.80[AMR][1000 genomes]
rs7091986	0.82[AMR][1000 genomes]
rs72826986	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72826987	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7913199	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7915116	0.82[AMR][1000 genomes]
rs7915452	0.81[AMR][1000 genomes]
rs9325544	0.86[AMR][1000 genomes]
rs9421186	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9421190	0.84[EUR][1000 genomes]
rs985273	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:116287200-116307200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr10:116287400-116310600	Weak transcription	Brain Angular Gyrus	brain
3	chr10:116287400-116310600	Weak transcription	Stomach Smooth Muscle	stomach
4	chr10:116297600-116305200	Enhancers	Dnd41	blood
5	chr10:116297600-116308600	Enhancers	Primary B cells from peripheral blood	blood
6	chr10:116297800-116308600	Enhancers	Stomach Mucosa	stomach
7	chr10:116298000-116308800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr10:116298200-116307800	Strong transcription	Fetal Intestine Small	intestine
9	chr10:116298400-116307200	Strong transcription	Liver	Liver
10	chr10:116298400-116307600	Weak transcription	Brain Substantia Nigra	brain
11	chr10:116298400-116310200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr10:116298600-116304800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr10:116298600-116311600	Weak transcription	Gastric	stomach
14	chr10:116298800-116310400	Weak transcription	Small Intestine	intestine
15	chr10:116298800-116310600	Weak transcription	Colonic Mucosa	Colon
16	chr10:116299600-116308200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr10:116299800-116308800	Genic enhancers	Left Ventricle	heart
18	chr10:116300000-116306400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr10:116300200-116307400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr10:116300400-116307600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr10:116300600-116310600	Weak transcription	Brain Hippocampus Middle	brain
22	chr10:116300800-116305000	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr10:116301800-116304800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr10:116301800-116307400	Weak transcription	Placenta	Placenta
25	chr10:116301800-116310600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr10:116301800-116310600	Weak transcription	Fetal Lung	lung
27	chr10:116301800-116310800	Weak transcription	HSMM	muscle
28	chr10:116302000-116304600	Weak transcription	Fetal Muscle Leg	muscle
29	chr10:116302400-116305000	Strong transcription	HSMMtube	muscle
30	chr10:116302600-116305000	Enhancers	Duodenum Mucosa	Duodenum
31	chr10:116302800-116307200	Weak transcription	Right Atrium	heart
32	chr10:116303000-116304800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
33	chr10:116303000-116305200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr10:116303200-116304600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
35	chr10:116303200-116305000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
36	chr10:116303200-116305200	Enhancers	NHEK	skin
37	chr10:116303200-116305400	Enhancers	HMEC	breast
38	chr10:116303200-116306800	Weak transcription	HUVEC	blood vessel
39	chr10:116303400-116304600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
40	chr10:116303400-116304800	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr10:116303400-116305200	Strong transcription	Lung	lung
42	chr10:116303400-116305600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr10:116303400-116306000	Enhancers	Primary hematopoietic stem cells	blood
44	chr10:116303400-116306000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr10:116303600-116304600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
46	chr10:116303600-116304800	Strong transcription	Adipose Nuclei	Adipose
47	chr10:116303600-116305200	Strong transcription	Fetal Intestine Large	intestine
48	chr10:116303600-116305200	Strong transcription	Skeletal Muscle Male	skeletal muscle
49	chr10:116303600-116305600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr10:116303800-116305200	Enhancers	Placenta Amnion	Placenta Amnion

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