Variant report

Variant	rs2483611
Chromosome Location	chr10:116393980-116393981
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:116391283..116394049-chr10:116397576..116399844,2	K562	blood:
2	chr10:116393656..116396167-chr10:116399745..116401375,2	K562	blood:
3	chr10:116381677..116383578-chr10:116393467..116395747,2	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	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2483604	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2483605	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2483608	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2483610	0.83[AFR][1000 genomes]
rs2483613	0.83[AFR][1000 genomes]
rs2497669	1.00[AMR][1000 genomes]
rs2497670	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2497671	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2497674	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2497675	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2497676	0.87[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:83 , 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	chr10:116392000-116395000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr10:116392200-116395000	Enhancers	Primary hematopoietic stem cells	blood
5	chr10:116392200-116395400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr10:116392200-116395400	Enhancers	HMEC	breast
7	chr10:116392200-116395400	Enhancers	NHEK	skin
8	chr10:116392200-116395800	Enhancers	Placenta	Placenta
9	chr10:116392400-116394600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr10:116392400-116395200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr10:116392400-116395200	Enhancers	HUVEC	blood vessel
12	chr10:116392400-116395400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr10:116392400-116395400	Enhancers	Fetal Lung	lung
14	chr10:116392400-116395600	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr10:116392400-116396400	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr10:116392800-116394200	Enhancers	Fetal Muscle Trunk	muscle
17	chr10:116392800-116395800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr10:116392800-116396000	Enhancers	Adipose Nuclei	Adipose
19	chr10:116392800-116396200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr10:116392800-116396200	Enhancers	Fetal Muscle Leg	muscle
21	chr10:116392800-116399000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr10:116393000-116394600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr10:116393000-116395000	Weak transcription	Esophagus	oesophagus
24	chr10:116393000-116395200	Enhancers	Fetal Kidney	kidney
25	chr10:116393000-116395200	Weak transcription	Gastric	stomach
26	chr10:116393000-116395800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr10:116393000-116396200	Enhancers	Liver	Liver
28	chr10:116393200-116395000	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr10:116393200-116395200	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr10:116393200-116395400	Enhancers	Brain Anterior Caudate	brain
31	chr10:116393400-116394400	Enhancers	Colon Smooth Muscle	Colon
32	chr10:116393400-116394800	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr10:116393400-116394800	Enhancers	HepG2	liver
34	chr10:116393400-116395000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr10:116393400-116395000	Weak transcription	Aorta	Aorta
36	chr10:116393400-116395000	Weak transcription	Pancreas	Pancrea
37	chr10:116393400-116395000	Weak transcription	Psoas Muscle	Psoas
38	chr10:116393400-116395200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr10:116393400-116395400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr10:116393400-116396200	Enhancers	Brain Cingulate Gyrus	brain
41	chr10:116393600-116394000	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr10:116393600-116394200	Enhancers	Muscle Satellite Cultured Cells	--
43	chr10:116393600-116394400	Enhancers	Fetal Intestine Small	intestine
44	chr10:116393600-116394600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr10:116393600-116394600	Weak transcription	Brain Angular Gyrus	brain
46	chr10:116393600-116394600	Enhancers	Stomach Smooth Muscle	stomach
47	chr10:116393600-116394600	Enhancers	NH-A	brain
48	chr10:116393600-116394800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr10:116393600-116394800	Weak transcription	Brain Hippocampus Middle	brain
50	chr10:116393600-116394800	Weak transcription	Rectal Mucosa Donor 31	rectum

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