Variant report

Variant	rs10783819
Chromosome Location	chr12:57667261-57667262
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:57665262..57667512-chr12:57847021..57849569,2	K562	blood:
2	chr12:57662430..57665295-chr12:57666065..57668368,2	K562	blood:
3	chr12:57663318..57665295-chr12:57666065..57669203,3	K562	blood:

Variant related genes	Relation type
ENSG00000139269	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10747777	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10747778	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10783818	1.00[CEU][hapmap];0.87[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10783820	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10783823	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10876976	1.00[CEU][hapmap];0.87[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes]
rs10876978	0.80[AMR][1000 genomes]
rs11172156	0.96[CEU][hapmap];0.87[CHB][hapmap];0.82[JPT][hapmap];0.91[EUR][1000 genomes]
rs11172160	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11172165	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11172169	0.89[CEU][hapmap];0.88[CHB][hapmap];0.83[JPT][hapmap]
rs11172170	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11172190	0.93[CEU][hapmap];0.87[CHB][hapmap];0.82[JPT][hapmap]
rs11609986	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs12296766	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12310220	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12579911	1.00[CEU][hapmap]
rs12812140	0.96[CEU][hapmap];0.91[CHB][hapmap];0.81[JPT][hapmap];0.81[EUR][1000 genomes]
rs1798710	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2063778	0.96[CEU][hapmap];0.87[CHB][hapmap];0.82[JPT][hapmap]
rs2280139	0.80[JPT][hapmap]
rs35032945	0.82[EUR][1000 genomes]
rs3923885	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4075325	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4760192	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4760193	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4760228	0.82[AMR][1000 genomes]
rs4760236	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes]
rs4760308	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4760348	1.00[CEU][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4760356	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4760357	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs481196	1.00[CEU][hapmap]
rs491750	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs512223	0.82[AMR][1000 genomes]
rs533975	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap]
rs537482	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs543410	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap]
rs560048	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap]
rs568793	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs575153	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6581131	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6581134	0.95[CHB][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6581135	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6581136	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6581139	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7132367	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7133366	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7133939	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7135142	0.96[CEU][hapmap];0.87[CHB][hapmap];0.82[JPT][hapmap];0.91[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7298418	1.00[CEU][hapmap];0.87[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7307059	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7309659	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7313824	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7314266	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7358684	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7398058	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.95[YRI][hapmap];0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7486863	0.96[CEU][hapmap];0.87[CHB][hapmap];0.82[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7975649	0.84[ASN][1000 genomes]
rs7977908	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS 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 miRNA target site	181 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	chr12:57638800-57673600	Weak transcription	Stomach Mucosa	stomach
2	chr12:57646000-57667600	Strong transcription	Thymus	Thymus
3	chr12:57647200-57668200	Strong transcription	Fetal Stomach	stomach
4	chr12:57652000-57673600	Weak transcription	Hela-S3	cervix
5	chr12:57653400-57671400	Weak transcription	Small Intestine	intestine
6	chr12:57654800-57705400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:57655800-57674000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr12:57656200-57673800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr12:57656600-57682800	Weak transcription	Fetal Brain Male	brain
10	chr12:57658200-57667800	Strong transcription	Primary T cells from cord blood	blood
11	chr12:57658200-57668000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr12:57658200-57668400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr12:57658200-57668800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr12:57658200-57673600	Strong transcription	Fetal Thymus	thymus
15	chr12:57658400-57668400	Strong transcription	Primary B cells from cord blood	blood
16	chr12:57658400-57668600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:57658400-57668600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr12:57658600-57667400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr12:57658600-57667800	Strong transcription	Primary T helper cells PMA-I stimulated	--
20	chr12:57658600-57668000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr12:57658600-57668200	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr12:57658600-57668400	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr12:57658600-57668600	Strong transcription	Stomach Smooth Muscle	stomach
24	chr12:57658600-57668800	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr12:57658800-57668000	Strong transcription	Placenta	Placenta
26	chr12:57658800-57668400	Strong transcription	Liver	Liver
27	chr12:57658800-57668600	Strong transcription	Rectal Mucosa Donor 31	rectum
28	chr12:57658800-57668800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr12:57659000-57667800	Strong transcription	Brain Anterior Caudate	brain
30	chr12:57659200-57667800	Strong transcription	Dnd41	blood
31	chr12:57659200-57668600	Strong transcription	Fetal Intestine Large	intestine
32	chr12:57659400-57668200	Strong transcription	Brain Germinal Matrix	brain
33	chr12:57659600-57668200	Strong transcription	Duodenum Mucosa	Duodenum
34	chr12:57660400-57668200	Strong transcription	Primary B cells from peripheral blood	blood
35	chr12:57660400-57668400	Strong transcription	Primary T killer memory cells from peripheral blood	blood
36	chr12:57660600-57667400	Strong transcription	Fetal Brain Female	brain
37	chr12:57660600-57674200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr12:57661400-57668000	Strong transcription	HepG2	liver
39	chr12:57662400-57668800	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr12:57662600-57668800	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr12:57662800-57668000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr12:57662800-57668400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr12:57662800-57674200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr12:57662800-57706000	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr12:57663000-57667800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr12:57663000-57674000	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr12:57663400-57671800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr12:57663800-57671400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr12:57663800-57671600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr12:57663800-57671800	Weak transcription	Placenta Amnion	Placenta Amnion

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