Variant report

Variant	rs12322158
Chromosome Location	chr12:57793328-57793329
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10083191	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs11172151	1.00[AMR][1000 genomes]
rs11172167	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs11172213	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11172219	0.92[AFR][1000 genomes]
rs12296737	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12310527	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12310686	1.00[AMR][1000 genomes]
rs12312567	1.00[AMR][1000 genomes]
rs12312780	1.00[AMR][1000 genomes]
rs12312858	1.00[AFR][1000 genomes]
rs12314262	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12315459	1.00[AMR][1000 genomes]
rs12316507	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12317318	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12317897	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs12318999	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12319006	1.00[AMR][1000 genomes]
rs12320772	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12322514	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12322636	1.00[AMR][1000 genomes]
rs13377950	1.00[AMR][1000 genomes]
rs34000745	1.00[AMR][1000 genomes]
rs34660894	1.00[AMR][1000 genomes]
rs35958371	1.00[AMR][1000 genomes]
rs9971718	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046013	chr12:57714676-57895167	Active TSS Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
2	nsv541502	chr12:57714676-57895167	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
3	nsv516655	chr12:57763520-57811414	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57695200-57794600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr12:57731600-57796000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr12:57736400-57795000	Weak transcription	Right Ventricle	heart
4	chr12:57753200-57823800	Weak transcription	Esophagus	oesophagus
5	chr12:57762800-57811800	Weak transcription	Pancreas	Pancrea
6	chr12:57763000-57796800	Weak transcription	Colonic Mucosa	Colon
7	chr12:57763000-57799200	Weak transcription	Psoas Muscle	Psoas
8	chr12:57763000-57800400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr12:57766200-57795000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr12:57766200-57816000	Weak transcription	Fetal Lung	lung
11	chr12:57770800-57824000	Weak transcription	Gastric	stomach
12	chr12:57774400-57819200	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr12:57780400-57795000	Weak transcription	Brain Substantia Nigra	brain
14	chr12:57780600-57795000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr12:57780800-57823200	Weak transcription	Spleen	Spleen
16	chr12:57781200-57795000	Weak transcription	Aorta	Aorta
17	chr12:57783400-57794600	Weak transcription	Colon Smooth Muscle	Colon
18	chr12:57783600-57797600	Weak transcription	Hela-S3	cervix
19	chr12:57783600-57805000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr12:57783800-57799200	Weak transcription	Primary B cells from cord blood	blood
21	chr12:57783800-57800200	Weak transcription	HSMMtube	muscle
22	chr12:57783800-57808600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr12:57783800-57809000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr12:57783800-57823200	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr12:57784200-57794600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr12:57784200-57794600	Weak transcription	Fetal Heart	heart
27	chr12:57784200-57795000	Weak transcription	Brain Anterior Caudate	brain
28	chr12:57784200-57809800	Weak transcription	Osteobl	bone
29	chr12:57784200-57818000	Weak transcription	HSMM	muscle
30	chr12:57784400-57794600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr12:57784400-57794600	Weak transcription	HMEC	breast
32	chr12:57784400-57794800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr12:57784400-57794800	Weak transcription	Brain Angular Gyrus	brain
34	chr12:57784400-57795000	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr12:57784400-57808800	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr12:57784400-57813600	Weak transcription	Primary hematopoietic stem cells	blood
37	chr12:57784400-57816400	Weak transcription	NHLF	lung
38	chr12:57784600-57795000	Weak transcription	Brain Cingulate Gyrus	brain
39	chr12:57786400-57794400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr12:57786400-57794400	Weak transcription	NHEK	skin
41	chr12:57786400-57797400	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr12:57786400-57815600	Weak transcription	Fetal Brain Female	brain
43	chr12:57786600-57805600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr12:57786600-57813400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr12:57787000-57811400	Weak transcription	Stomach Mucosa	stomach
46	chr12:57787400-57795000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr12:57787800-57812000	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr12:57788000-57793400	Weak transcription	A549	lung
49	chr12:57788400-57804200	Weak transcription	Primary T cells from cord blood	blood
50	chr12:57788600-57795200	Weak transcription	Duodenum Smooth Muscle	Duodenum

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