Variant report

Variant	rs2483517
Chromosome Location	chr10:116399743-116399744
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	chr10:116391283..116394049-chr10:116397576..116399844,2	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs2483518	1.00[AMR][1000 genomes]
rs2483520	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	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2483613	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2497678	1.00[AMR][1000 genomes]
rs2497680	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2497683	1.00[AMR][1000 genomes]
rs2497685	1.00[AMR][1000 genomes]
rs2497690	1.00[AMR][1000 genomes]
rs2497691	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	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:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:116393600-116405800	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr10:116394400-116422600	Weak transcription	Fetal Intestine Small	intestine
3	chr10:116395200-116402000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr10:116395800-116408400	Weak transcription	Psoas Muscle	Psoas
5	chr10:116396000-116401400	Weak transcription	Lung	lung
6	chr10:116396000-116402600	Weak transcription	Adipose Nuclei	Adipose
7	chr10:116396200-116400000	Enhancers	Fetal Heart	heart
8	chr10:116396200-116404400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr10:116396200-116404600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr10:116396200-116408800	Weak transcription	Esophagus	oesophagus
11	chr10:116396600-116404600	Weak transcription	Pancreas	Pancrea
12	chr10:116397200-116409400	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr10:116397800-116399800	Enhancers	HMEC	breast
14	chr10:116397800-116400000	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr10:116398000-116399800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr10:116398000-116400000	Enhancers	Muscle Satellite Cultured Cells	--
17	chr10:116398200-116399800	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr10:116398200-116399800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr10:116398200-116399800	Enhancers	Left Ventricle	heart
20	chr10:116398200-116399800	Enhancers	NHDF-Ad	bronchial
21	chr10:116398200-116399800	Enhancers	NHLF	lung
22	chr10:116398200-116399800	Enhancers	Osteobl	bone
23	chr10:116398200-116400000	Enhancers	Right Ventricle	heart
24	chr10:116398200-116400200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr10:116398400-116399800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr10:116398400-116399800	Enhancers	A549	lung
27	chr10:116398600-116399800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr10:116398600-116399800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr10:116398600-116399800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr10:116398600-116399800	Flanking Active TSS	NH-A	brain
31	chr10:116398800-116399800	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr10:116399000-116399800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr10:116399000-116399800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr10:116399000-116399800	Flanking Active TSS	HSMMtube	muscle
35	chr10:116399200-116410400	Weak transcription	Brain Angular Gyrus	brain
36	chr10:116399400-116400200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr10:116399400-116401400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr10:116399400-116404200	Weak transcription	HUVEC	blood vessel
39	chr10:116399400-116404400	Weak transcription	NHEK	skin
40	chr10:116399400-116404600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr10:116399400-116404600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr10:116399400-116404600	Weak transcription	Right Atrium	heart
43	chr10:116399600-116399800	Enhancers	Spleen	Spleen
44	chr10:116399600-116400000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr10:116399600-116400000	Enhancers	HSMM	muscle
46	chr10:116399600-116402800	Weak transcription	Brain Anterior Caudate	brain
47	chr10:116399600-116404400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr10:116399600-116404800	Weak transcription	Fetal Lung	lung
49	chr10:116399600-116408600	Weak transcription	Primary hematopoietic stem cells	blood

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