Variant report

Variant	rs73082652
Chromosome Location	chr12:21625064-21625065
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs73067212	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73067231	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73067241	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73067963	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73067965	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73067973	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73067991	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73067995	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73068002	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73069804	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73071746	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73071748	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73071754	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73071759	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73071777	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73071781	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73071793	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73082666	1.00[EUR][1000 genomes]
rs73082672	0.81[EUR][1000 genomes]
rs73083854	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73083865	1.00[AMR][1000 genomes];1.00[EUR][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	nsv898896	chr12:21561645-21695584	Strong transcription Bivalent Enhancer Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1043936	chr12:21562673-21979030	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv557741	chr12:21578559-22169854	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv1054220	chr12:21612158-21692103	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21592000-21631000	Weak transcription	Psoas Muscle	Psoas
2	chr12:21592800-21631400	Weak transcription	K562	blood
3	chr12:21595600-21626200	Weak transcription	Right Ventricle	heart
4	chr12:21595800-21631400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr12:21595800-21632600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr12:21595800-21633200	Weak transcription	Gastric	stomach
7	chr12:21595800-21650000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr12:21596000-21631600	Weak transcription	Pancreas	Pancrea
9	chr12:21597400-21636000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr12:21599000-21629600	Weak transcription	Stomach Mucosa	stomach
11	chr12:21607000-21645800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:21610600-21626200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr12:21611000-21652800	Weak transcription	Small Intestine	intestine
14	chr12:21611000-21653600	Weak transcription	Esophagus	oesophagus
15	chr12:21611200-21631400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr12:21611200-21640800	Weak transcription	Fetal Heart	heart
17	chr12:21611800-21626600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr12:21612200-21630800	Weak transcription	Spleen	Spleen
19	chr12:21612400-21625200	Weak transcription	Aorta	Aorta
20	chr12:21612400-21627200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr12:21612600-21631000	Weak transcription	Lung	lung
22	chr12:21612800-21625400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr12:21613800-21631600	Weak transcription	Fetal Stomach	stomach
24	chr12:21614800-21652800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr12:21616600-21631800	Weak transcription	Fetal Intestine Small	intestine
26	chr12:21617000-21653000	Weak transcription	Colonic Mucosa	Colon
27	chr12:21617400-21630800	Weak transcription	Thymus	Thymus
28	chr12:21617600-21625200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr12:21617600-21626800	Weak transcription	Fetal Lung	lung
30	chr12:21617800-21626200	Weak transcription	Brain Substantia Nigra	brain
31	chr12:21618000-21625200	Weak transcription	Ovary	ovary
32	chr12:21619400-21625400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr12:21619400-21627000	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr12:21619800-21638400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr12:21619800-21652200	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr12:21619800-21652400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr12:21619800-21652400	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr12:21620000-21630000	Strong transcription	Primary neutrophils fromperipheralblood	blood
39	chr12:21620200-21652600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr12:21620400-21626000	Weak transcription	HepG2	liver
41	chr12:21620400-21629800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr12:21620400-21637800	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr12:21620600-21636600	Strong transcription	Dnd41	blood
44	chr12:21620600-21652200	Strong transcription	Primary B cells from peripheral blood	blood
45	chr12:21620800-21636600	Strong transcription	Fetal Thymus	thymus
46	chr12:21621000-21630600	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr12:21621600-21626200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr12:21622800-21625200	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr12:21623000-21635400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr12:21623200-21649400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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