Variant report

Variant	rs10496338
Chromosome Location	chr2:100276366-100276367
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12466624	1.00[AFR][1000 genomes]
rs12467621	1.00[AFR][1000 genomes]
rs12468845	1.00[AFR][1000 genomes]
rs1451248	1.00[CEU][hapmap]
rs2163042	1.00[ASN][1000 genomes]
rs28369939	1.00[AFR][1000 genomes]
rs6718629	1.00[AFR][1000 genomes]
rs6756248	1.00[ASN][1000 genomes]
rs72817037	1.00[AFR][1000 genomes]
rs72817082	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431424	chr2:99652682-100494682	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv962113	chr2:100022168-100317461	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1003343	chr2:100241560-100848900	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv535843	chr2:100241560-100848900	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100253200-100308800	Weak transcription	Gastric	stomach
2	chr2:100255400-100285400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr2:100255400-100285400	Weak transcription	Dnd41	blood
4	chr2:100257600-100308600	Weak transcription	Thymus	Thymus
5	chr2:100260200-100283600	Strong transcription	Primary B cells from peripheral blood	blood
6	chr2:100261400-100279000	Weak transcription	Fetal Kidney	kidney
7	chr2:100264000-100328600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr2:100264200-100281800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr2:100266400-100277200	Weak transcription	Brain Germinal Matrix	brain
10	chr2:100268400-100287800	Strong transcription	Primary B cells from cord blood	blood
11	chr2:100268800-100282400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr2:100269200-100288800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:100269600-100280200	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr2:100269800-100277200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr2:100270000-100278800	Weak transcription	NH-A	brain
16	chr2:100271600-100279400	Weak transcription	Brain Substantia Nigra	brain
17	chr2:100271600-100280200	Weak transcription	Fetal Brain Female	brain
18	chr2:100271800-100279200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr2:100272200-100277000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr2:100272800-100281800	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr2:100273200-100280800	Enhancers	Adipose Nuclei	Adipose
22	chr2:100273800-100277000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:100273800-100277600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:100274000-100277000	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr2:100274000-100277200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:100274000-100277400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr2:100274000-100279200	Weak transcription	Psoas Muscle	Psoas
28	chr2:100274000-100279200	Weak transcription	Rectal Smooth Muscle	rectum
29	chr2:100274000-100279200	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr2:100274000-100279400	Weak transcription	Fetal Lung	lung
31	chr2:100274000-100282000	Weak transcription	Aorta	Aorta
32	chr2:100274200-100297400	Weak transcription	Liver	Liver
33	chr2:100274400-100276600	Enhancers	Right Atrium	heart
34	chr2:100274600-100276600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr2:100274600-100276800	Strong transcription	Primary T cells from cord blood	blood
36	chr2:100274800-100277200	Weak transcription	Colon Smooth Muscle	Colon
37	chr2:100275400-100277200	Weak transcription	Brain Hippocampus Middle	brain
38	chr2:100275400-100278800	Enhancers	Fetal Muscle Leg	muscle
39	chr2:100275800-100291000	Weak transcription	Lung	lung
40	chr2:100276200-100276400	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr2:100276200-100276400	Enhancers	Left Ventricle	heart
42	chr2:100276200-100276600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr2:100276200-100277400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr2:100276200-100277800	Enhancers	Ovary	ovary
45	chr2:100276200-100278000	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr2:100276200-100278200	Enhancers	Primary monocytes fromperipheralblood	blood

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