Variant report

Variant	rs2483613
Chromosome Location	chr10:116395193-116395194
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	chr10:116393656..116396167-chr10:116399745..116401375,2	K562	blood:
2	chr10:116381677..116383578-chr10:116393467..116395747,2	MCF-7	breast:

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs2483517	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2483518	1.00[AMR][1000 genomes]
rs2483520	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2483521	1.00[AMR][1000 genomes]
rs2483522	1.00[AMR][1000 genomes]
rs2483523	1.00[AMR][1000 genomes]
rs2483524	1.00[AMR][1000 genomes]
rs2483525	1.00[AMR][1000 genomes]
rs2483526	1.00[AMR][1000 genomes]
rs2483527	1.00[AMR][1000 genomes]
rs2483528	1.00[AMR][1000 genomes]
rs2483529	1.00[AMR][1000 genomes]
rs2483530	1.00[AMR][1000 genomes]
rs2483610	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2483611	0.83[AFR][1000 genomes]
rs2497675	0.84[AFR][1000 genomes]
rs2497678	1.00[AMR][1000 genomes]
rs2497680	1.00[AMR][1000 genomes]
rs2497683	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2497685	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2497690	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2497691	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2497692	1.00[AMR][1000 genomes]
rs2497693	1.00[AMR][1000 genomes]
rs2497695	1.00[AMR][1000 genomes]
rs2497696	1.00[AMR][1000 genomes]
rs2497697	1.00[AMR][1000 genomes]
rs2497698	1.00[AMR][1000 genomes]
rs2497699	1.00[AMR][1000 genomes]
rs2497700	1.00[AMR][1000 genomes]
rs55776012	1.00[AMR][1000 genomes]
rs56274206	1.00[AMR][1000 genomes]
rs56970375	1.00[AMR][1000 genomes]
rs57898409	1.00[AMR][1000 genomes]
rs59244961	1.00[AMR][1000 genomes]
rs60050182	1.00[AMR][1000 genomes]
rs60982284	1.00[AMR][1000 genomes]
rs74158021	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74158023	1.00[AMR][1000 genomes]
rs74158024	1.00[AMR][1000 genomes]
rs74158026	1.00[AMR][1000 genomes]
rs74158027	1.00[AMR][1000 genomes]
rs74158028	1.00[AMR][1000 genomes]
rs74158029	1.00[AMR][1000 genomes]
rs74158030	1.00[AMR][1000 genomes]
rs9420167	1.00[AMR][1000 genomes]
rs9421196	1.00[AMR][1000 genomes]
rs9421197	1.00[AMR][1000 genomes]
rs9421198	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:116391400-116395800	Weak transcription	Spleen	Spleen
2	chr10:116391800-116395200	Enhancers	Placenta Amnion	Placenta Amnion
3	chr10:116392200-116395400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr10:116392200-116395400	Enhancers	HMEC	breast
5	chr10:116392200-116395400	Enhancers	NHEK	skin
6	chr10:116392200-116395800	Enhancers	Placenta	Placenta
7	chr10:116392400-116395200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr10:116392400-116395200	Enhancers	HUVEC	blood vessel
9	chr10:116392400-116395400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr10:116392400-116395400	Enhancers	Fetal Lung	lung
11	chr10:116392400-116395600	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr10:116392400-116396400	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr10:116392800-116395800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr10:116392800-116396000	Enhancers	Adipose Nuclei	Adipose
15	chr10:116392800-116396200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr10:116392800-116396200	Enhancers	Fetal Muscle Leg	muscle
17	chr10:116392800-116399000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr10:116393000-116395200	Enhancers	Fetal Kidney	kidney
19	chr10:116393000-116395200	Weak transcription	Gastric	stomach
20	chr10:116393000-116395800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr10:116393000-116396200	Enhancers	Liver	Liver
22	chr10:116393200-116395200	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr10:116393200-116395400	Enhancers	Brain Anterior Caudate	brain
24	chr10:116393400-116395200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr10:116393400-116395400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr10:116393400-116396200	Enhancers	Brain Cingulate Gyrus	brain
27	chr10:116393600-116395200	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr10:116393600-116395200	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr10:116393600-116395200	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr10:116393600-116395200	Weak transcription	Lung	lung
31	chr10:116393600-116395200	Enhancers	Rectal Smooth Muscle	rectum
32	chr10:116393600-116395400	Enhancers	K562	blood
33	chr10:116393600-116395800	Enhancers	NHDF-Ad	bronchial
34	chr10:116393600-116396000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr10:116393600-116396000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr10:116393600-116398200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr10:116393600-116405800	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr10:116393800-116395400	Enhancers	NHLF	lung
39	chr10:116393800-116396000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr10:116393800-116397200	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr10:116394200-116395200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
42	chr10:116394200-116395200	Weak transcription	Fetal Muscle Trunk	muscle
43	chr10:116394400-116395400	Flanking Active TSS	Fetal Heart	heart
44	chr10:116394400-116422600	Weak transcription	Fetal Intestine Small	intestine
45	chr10:116394600-116395200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr10:116394600-116395200	Active TSS	Stomach Smooth Muscle	stomach
47	chr10:116394600-116395200	Flanking Active TSS	NH-A	brain
48	chr10:116394600-116395400	Flanking Active TSS	HSMMtube	muscle
49	chr10:116394800-116395200	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr10:116394800-116395200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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