Variant report

Variant	rs73249909
Chromosome Location	chr12:21629232-21629233
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:21628982..21633807-chr12:21637504..21641052,4	K562	blood:
2	chr12:21627258..21630127-chr12:21631085..21633141,2	K562	blood:
3	chr12:21628037..21630683-chr12:21643280..21645619,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11046128	1.00[EUR][1000 genomes]
rs55785938	1.00[EUR][1000 genomes]
rs56317413	1.00[EUR][1000 genomes]
rs57358745	1.00[EUR][1000 genomes]
rs57595949	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58874042	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58884256	1.00[EUR][1000 genomes]
rs60848157	1.00[EUR][1000 genomes]
rs73244989	1.00[EUR][1000 genomes]
rs73246509	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73248030	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73248054	1.00[EUR][1000 genomes]
rs73249910	0.92[AFR][1000 genomes]
rs73249914	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73251658	1.00[EUR][1000 genomes]
rs74066470	1.00[EUR][1000 genomes]
rs74066472	1.00[EUR][1000 genomes]
rs74066477	1.00[EUR][1000 genomes]
rs74066478	1.00[EUR][1000 genomes]
rs74066715	1.00[EUR][1000 genomes]
rs74066717	1.00[EUR][1000 genomes]
rs74067190	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74067201	0.92[AFR][1000 genomes]
rs74069429	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	chr12:21595800-21631400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr12:21595800-21632600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr12:21595800-21633200	Weak transcription	Gastric	stomach
6	chr12:21595800-21650000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr12:21596000-21631600	Weak transcription	Pancreas	Pancrea
8	chr12:21597400-21636000	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr12:21599000-21629600	Weak transcription	Stomach Mucosa	stomach
10	chr12:21607000-21645800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:21611000-21652800	Weak transcription	Small Intestine	intestine
12	chr12:21611000-21653600	Weak transcription	Esophagus	oesophagus
13	chr12:21611200-21631400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr12:21611200-21640800	Weak transcription	Fetal Heart	heart
15	chr12:21612200-21630800	Weak transcription	Spleen	Spleen
16	chr12:21612600-21631000	Weak transcription	Lung	lung
17	chr12:21613800-21631600	Weak transcription	Fetal Stomach	stomach
18	chr12:21614800-21652800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr12:21616600-21631800	Weak transcription	Fetal Intestine Small	intestine
20	chr12:21617000-21653000	Weak transcription	Colonic Mucosa	Colon
21	chr12:21617400-21630800	Weak transcription	Thymus	Thymus
22	chr12:21619800-21638400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr12:21619800-21652200	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr12:21619800-21652400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr12:21619800-21652400	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr12:21620000-21630000	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr12:21620200-21652600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:21620400-21629800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr12:21620400-21637800	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr12:21620600-21636600	Strong transcription	Dnd41	blood
31	chr12:21620600-21652200	Strong transcription	Primary B cells from peripheral blood	blood
32	chr12:21620800-21636600	Strong transcription	Fetal Thymus	thymus
33	chr12:21621000-21630600	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr12:21623000-21635400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr12:21623200-21649400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr12:21623400-21633400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr12:21623800-21629600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr12:21623800-21629800	Strong transcription	NH-A	brain
39	chr12:21623800-21630000	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr12:21623800-21636600	Strong transcription	Liver	Liver
41	chr12:21623800-21636800	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr12:21623800-21637000	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr12:21623800-21638000	Strong transcription	Placenta	Placenta
44	chr12:21623800-21639000	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr12:21623800-21639600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr12:21624000-21629800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr12:21624000-21633200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr12:21624000-21636600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr12:21624000-21636600	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr12:21624000-21636600	Strong transcription	GM12878-XiMat	blood

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