Variant report

Variant	rs73071996
Chromosome Location	chr12:29310465-29310466
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs11050001	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11050015	1.00[EUR][1000 genomes]
rs11050022	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11050023	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11050031	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11050102	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11050109	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11050127	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11050130	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11050131	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11834972	1.00[EUR][1000 genomes]
rs12298807	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12299296	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12299378	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12302693	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12304835	0.83[AFR][1000 genomes]
rs12305640	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12305958	1.00[EUR][1000 genomes]
rs12306317	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12308307	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12309725	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12311253	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12313631	1.00[EUR][1000 genomes]
rs12314772	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12315253	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12315255	1.00[EUR][1000 genomes]
rs12316813	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12318343	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12319491	1.00[EUR][1000 genomes]
rs12319600	0.83[AFR][1000 genomes]
rs12319668	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12322477	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56235020	1.00[EUR][1000 genomes]
rs59858313	1.00[EUR][1000 genomes]
rs67200761	1.00[EUR][1000 genomes]
rs73061729	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73061748	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73061899	1.00[EUR][1000 genomes]
rs73063608	1.00[EUR][1000 genomes]
rs73063634	1.00[EUR][1000 genomes]
rs73063636	1.00[EUR][1000 genomes]
rs73063639	1.00[EUR][1000 genomes]
rs73063778	1.00[EUR][1000 genomes]
rs73063781	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73063782	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73063783	1.00[EUR][1000 genomes]
rs73065614	1.00[EUR][1000 genomes]
rs73065622	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73065637	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73067717	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73067752	1.00[EUR][1000 genomes]
rs73068496	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73070471	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73070475	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73070476	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73071945	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73071951	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73071976	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73072288	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73073756	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73073757	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73073782	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73073797	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73073798	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73075593	1.00[EUR][1000 genomes]
rs73077508	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73077524	1.00[EUR][1000 genomes]
rs73077528	1.00[EUR][1000 genomes]
rs73077530	1.00[EUR][1000 genomes]
rs73077591	1.00[EUR][1000 genomes]
rs73077598	1.00[EUR][1000 genomes]
rs73079508	1.00[EUR][1000 genomes]
rs73079510	1.00[EUR][1000 genomes]
rs73079530	1.00[EUR][1000 genomes]
rs7966961	1.00[EUR][1000 genomes]
rs7980369	1.00[EUR][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	nsv532233	chr12:29009388-29496179	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv995123	chr12:29095272-29571558	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv1053641	chr12:29268813-29854413	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29303400-29311400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr12:29303400-29312200	Weak transcription	Spleen	Spleen
3	chr12:29303400-29316600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr12:29303400-29317000	Weak transcription	Colonic Mucosa	Colon
5	chr12:29303400-29317800	Weak transcription	Fetal Kidney	kidney
6	chr12:29303600-29313400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr12:29304000-29312600	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr12:29306000-29312400	Weak transcription	Duodenum Mucosa	Duodenum
9	chr12:29306400-29313000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr12:29306400-29313200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr12:29306600-29310600	Weak transcription	Adipose Nuclei	Adipose
12	chr12:29306600-29312600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr12:29306600-29312600	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr12:29306600-29313000	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr12:29306600-29324600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr12:29306800-29313200	Weak transcription	Fetal Thymus	thymus
17	chr12:29306800-29324400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr12:29308400-29312600	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr12:29308400-29312600	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr12:29308400-29312600	Weak transcription	K562	blood
21	chr12:29308400-29313200	Weak transcription	Brain Anterior Caudate	brain
22	chr12:29308400-29317000	Weak transcription	Fetal Intestine Small	intestine
23	chr12:29308400-29324000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr12:29308400-29324400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr12:29308600-29311200	Weak transcription	GM12878-XiMat	blood
26	chr12:29308600-29312600	Weak transcription	Small Intestine	intestine
27	chr12:29308800-29317200	Weak transcription	Dnd41	blood
28	chr12:29309200-29312600	Enhancers	HUVEC	blood vessel
29	chr12:29309400-29311400	Active TSS	Brain Hippocampus Middle	brain
30	chr12:29309400-29314400	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr12:29309600-29311600	Enhancers	Muscle Satellite Cultured Cells	--
32	chr12:29309800-29311000	Enhancers	Primary B cells from cord blood	blood
33	chr12:29309800-29311400	Enhancers	NHDF-Ad	bronchial
34	chr12:29309800-29312000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr12:29310200-29310800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr12:29310200-29310800	Enhancers	NHEK	skin
37	chr12:29310200-29311000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
38	chr12:29310200-29311000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr12:29310200-29311000	Enhancers	HMEC	breast
40	chr12:29310200-29311400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr12:29310200-29311600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr12:29310200-29311600	Enhancers	Osteobl	bone
43	chr12:29310200-29313400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr12:29310200-29313400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr12:29310200-29313800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
46	chr12:29310400-29310600	Flanking Active TSS	Primary hematopoietic stem cells	blood
47	chr12:29310400-29310600	Enhancers	NH-A	brain
48	chr12:29310400-29310800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr12:29310400-29310800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
50	chr12:29310400-29310800	Active TSS	Brain Inferior Temporal Lobe	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links