Variant report

Variant	rs12740982
Chromosome Location	chr1:77999244-77999245
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:76619553..76620451-chr1:77999109..77999974,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12744863	1.00[AFR][1000 genomes]
rs12759796	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34513554	1.00[AFR][1000 genomes]
rs34727511	1.00[AFR][1000 genomes]
rs35789311	1.00[AFR][1000 genomes]
rs36003200	1.00[AFR][1000 genomes];1.00[AMR][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	nsv470719	chr1:77774413-78269207	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv546591	chr1:77774413-78269207	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv871143	chr1:77955577-78031994	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1533	chr1:77990504-78036279	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr1:77980800-77999400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr1:77981800-77999400	Weak transcription	HSMMtube	muscle
3	chr1:77983000-78009200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr1:77985200-77999400	Weak transcription	Brain Substantia Nigra	brain
5	chr1:77985400-77999800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:77988400-77999800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr1:77988600-77999400	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr1:77993400-77999400	Weak transcription	HSMM	muscle
9	chr1:77996600-77999600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:77996600-77999600	Weak transcription	HMEC	breast
11	chr1:77996800-77999800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:77996800-77999800	Weak transcription	NHEK	skin
13	chr1:77996800-78001800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:77998000-78014000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr1:77998200-77999400	Enhancers	Brain Anterior Caudate	brain
16	chr1:77998200-78000000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr1:77998200-78000000	Enhancers	NHDF-Ad	bronchial
18	chr1:77998200-78000200	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr1:77998200-78000200	Enhancers	Brain Angular Gyrus	brain
20	chr1:77998200-78000400	Enhancers	Brain Hippocampus Middle	brain
21	chr1:77998200-78000600	Enhancers	Muscle Satellite Cultured Cells	--
22	chr1:77998200-78005000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:77998400-77999600	Enhancers	Fetal Muscle Leg	muscle
24	chr1:77998400-77999600	Enhancers	Osteobl	bone
25	chr1:77998400-78000600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr1:77998600-77999400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr1:77998600-77999600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr1:77998600-77999600	Weak transcription	Brain Cingulate Gyrus	brain
29	chr1:77998800-77999600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr1:77999000-78000000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr1:77999000-78000000	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr1:77999200-77999400	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr1:77999200-77999600	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr1:77999200-77999600	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr1:77999200-77999600	Enhancers	Primary T cells from cord blood	blood
36	chr1:77999200-77999600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr1:77999200-77999600	Enhancers	HepG2	liver
38	chr1:77999200-77999800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr1:77999200-77999800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr1:77999200-77999800	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr1:77999200-78000000	Enhancers	Primary T cells fromperipheralblood	blood
42	chr1:77999200-78000000	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr1:77999200-78000000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr1:77999200-78000000	Enhancers	Liver	Liver
45	chr1:77999200-78000600	Enhancers	NHLF	lung
46	chr1:77999200-78000800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr1:77999200-78001000	Enhancers	HUVEC	blood vessel
48	chr1:77999200-78002000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr1:77999200-78004600	Enhancers	NH-A	brain

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