Variant report

Variant	rs12466624
Chromosome Location	chr2:100315732-100315733
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10469849	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10496338	1.00[AFR][1000 genomes]
rs12467621	1.00[AFR][1000 genomes]
rs12468845	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28369939	1.00[AFR][1000 genomes]
rs6718629	1.00[AFR][1000 genomes]
rs72817037	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs72817082	1.00[AFR][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:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100264000-100328600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr2:100286600-100336800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr2:100294600-100318400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:100303600-100336800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr2:100305200-100318000	Weak transcription	Primary T cells from cord blood	blood
6	chr2:100306000-100317200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:100309000-100317200	Weak transcription	Esophagus	oesophagus
8	chr2:100309000-100317200	Weak transcription	Lung	lung
9	chr2:100309200-100320800	Weak transcription	Gastric	stomach
10	chr2:100309200-100323200	Weak transcription	Spleen	Spleen
11	chr2:100310800-100316000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:100310800-100323400	Strong transcription	Primary B cells from cord blood	blood
13	chr2:100311000-100317400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:100311000-100317600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr2:100312000-100320800	Weak transcription	Left Ventricle	heart
16	chr2:100312200-100317200	Weak transcription	Fetal Muscle Leg	muscle
17	chr2:100312200-100318200	Weak transcription	Fetal Brain Male	brain
18	chr2:100312400-100321800	Weak transcription	Fetal Brain Female	brain
19	chr2:100313000-100317200	Weak transcription	Fetal Lung	lung
20	chr2:100313200-100316400	Enhancers	Ovary	ovary
21	chr2:100313600-100317200	Weak transcription	Right Atrium	heart
22	chr2:100313600-100318000	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr2:100313600-100321800	Strong transcription	Primary B cells from peripheral blood	blood
24	chr2:100314000-100316000	Enhancers	Osteobl	bone
25	chr2:100314400-100315800	Enhancers	NHDF-Ad	bronchial
26	chr2:100314600-100315800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr2:100314600-100316000	Bivalent Enhancer	NHEK	skin
28	chr2:100314800-100315800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr2:100314800-100316000	Enhancers	HMEC	breast
30	chr2:100315000-100320600	Weak transcription	Fetal Heart	heart
31	chr2:100315000-100322600	Weak transcription	Adipose Nuclei	Adipose
32	chr2:100315000-100336800	Weak transcription	Aorta	Aorta
33	chr2:100315200-100316000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr2:100315200-100316200	Enhancers	NH-A	brain
35	chr2:100315400-100315800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr2:100315400-100316200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr2:100315400-100322800	Weak transcription	Fetal Kidney	kidney
38	chr2:100315600-100315800	Bivalent Enhancer	HSMMtube	muscle
39	chr2:100315600-100316000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin

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