Variant report

Variant	rs2483530
Chromosome Location	chr10:116407073-116407074
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	chr10:116406281..116408258-chr10:116409177..116411932,2	MCF-7	breast:
2	chr10:116406490..116408753-chr10:116411218..116414182,2	MCF-7	breast:

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs2483517	1.00[AMR][1000 genomes]
rs2483518	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2483520	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2483521	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2483522	1.00[AMR][1000 genomes]
rs2483523	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2483524	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2483525	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2483526	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2483527	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2483528	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2483529	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2483610	1.00[AMR][1000 genomes]
rs2483613	1.00[AMR][1000 genomes]
rs2497678	1.00[AMR][1000 genomes]
rs2497680	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2497683	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2497685	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2497689	0.80[AFR][1000 genomes]
rs2497690	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2497691	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2497692	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2497693	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2497695	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2497696	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2497697	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2497698	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2497699	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2497700	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55776012	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56274206	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56970375	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57898409	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59244961	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60050182	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60982284	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61867927	0.87[AFR][1000 genomes]
rs74158021	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74158023	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74158024	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74158025	0.90[AFR][1000 genomes]
rs74158026	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74158027	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74158028	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74158029	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74158030	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9420167	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9421196	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9421197	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9421198	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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
6	esv3435429	chr10:116394152-117006347	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	esv3316752	chr10:116406727-116407215	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv3316763	chr10:116406727-116407215	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv3507204	chr10:116406852-116407212	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
10	esv3507205	chr10:116406969-116407128	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:116394400-116422600	Weak transcription	Fetal Intestine Small	intestine
2	chr10:116395800-116408400	Weak transcription	Psoas Muscle	Psoas
3	chr10:116396200-116408800	Weak transcription	Esophagus	oesophagus
4	chr10:116397200-116409400	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr10:116399200-116410400	Weak transcription	Brain Angular Gyrus	brain
6	chr10:116399600-116408600	Weak transcription	Primary hematopoietic stem cells	blood
7	chr10:116399800-116413800	Weak transcription	Spleen	Spleen
8	chr10:116400200-116408600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr10:116402000-116408400	Weak transcription	Right Ventricle	heart
10	chr10:116403000-116408000	Weak transcription	Stomach Mucosa	stomach
11	chr10:116403200-116407200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr10:116403200-116408000	Weak transcription	Adipose Nuclei	Adipose
13	chr10:116403200-116412200	Weak transcription	Brain Anterior Caudate	brain
14	chr10:116404400-116407400	Enhancers	A549	lung
15	chr10:116404400-116409400	Weak transcription	Gastric	stomach
16	chr10:116404400-116411000	Enhancers	Fetal Heart	heart
17	chr10:116404600-116411200	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr10:116404800-116407800	Enhancers	Hela-S3	cervix
19	chr10:116404800-116409600	Enhancers	Muscle Satellite Cultured Cells	--
20	chr10:116404800-116412200	Weak transcription	Lung	lung
21	chr10:116405000-116407400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr10:116405000-116409400	Weak transcription	Pancreas	Pancrea
23	chr10:116405200-116413400	Weak transcription	Colonic Mucosa	Colon
24	chr10:116405600-116407200	Weak transcription	NHLF	lung
25	chr10:116405800-116408200	Enhancers	Rectal Mucosa Donor 29	rectum
26	chr10:116406000-116407200	Weak transcription	NHDF-Ad	bronchial
27	chr10:116406000-116407400	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr10:116406200-116407200	Weak transcription	Liver	Liver
29	chr10:116406200-116407600	Enhancers	Right Atrium	heart
30	chr10:116406200-116407800	Enhancers	Left Ventricle	heart
31	chr10:116406200-116408000	Enhancers	HUVEC	blood vessel
32	chr10:116406200-116412800	Weak transcription	Brain Cingulate Gyrus	brain
33	chr10:116406200-116422000	Weak transcription	Fetal Lung	lung
34	chr10:116406400-116407200	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr10:116406400-116407200	Enhancers	Placenta	Placenta
36	chr10:116406400-116407600	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr10:116406600-116407800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr10:116406600-116408000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr10:116406600-116408000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr10:116406800-116410200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr10:116407000-116407400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr10:116407000-116408000	Enhancers	NHEK	skin
43	chr10:116407000-116408600	Enhancers	Osteobl	bone
44	chr10:116407000-116408800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr10:116407000-116408800	Enhancers	NH-A	brain
46	chr10:116407000-116409000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr10:116407000-116409000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr10:116407000-116409600	Enhancers	HMEC	breast
49	chr10:116407000-116409800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr10:116407000-116410400	Enhancers	HSMM	muscle

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