Variant report

Variant	rs73399483
Chromosome Location	chr12:117447544-117447545
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:117441591..117444664-chr12:117447106..117450120,5	MCF-7	breast:
2	chr12:117446881..117449437-chr12:117449689..117452192,3	K562	blood:
3	chr12:117438803..117441545-chr12:117447187..117449859,2	K562	blood:
4	chr12:117447389..117449402-chr12:117456865..117458856,2	MCF-7	breast:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1032528	0.80[EUR][1000 genomes]
rs1051879	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11068246	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11068255	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11833966	0.80[EUR][1000 genomes]
rs11836743	0.93[EUR][1000 genomes]
rs12099584	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12308592	0.89[AMR][1000 genomes]
rs12313248	0.89[AMR][1000 genomes]
rs12316811	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12317604	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12321592	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16947122	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16947131	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16947144	1.00[EUR][1000 genomes]
rs16947209	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16947233	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16947295	0.86[EUR][1000 genomes]
rs4094199	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41364651	0.86[EUR][1000 genomes]
rs4451816	0.89[AMR][1000 genomes]
rs57135901	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58882507	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59373313	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs59623332	0.93[EUR][1000 genomes]
rs60272946	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61178788	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61207925	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61288722	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7133142	0.89[AMR][1000 genomes]
rs7133609	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7136880	0.89[AMR][1000 genomes]
rs7302713	0.89[AMR][1000 genomes]
rs7305313	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7314897	1.00[EUR][1000 genomes]
rs73395566	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73395571	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73395601	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73397424	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73397478	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73397488	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73399480	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73399502	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73403259	0.80[EUR][1000 genomes]
rs73403260	0.80[EUR][1000 genomes]
rs73403261	0.80[EUR][1000 genomes]
rs73403264	0.80[EUR][1000 genomes]
rs73403270	0.80[EUR][1000 genomes]
rs7958175	0.93[EUR][1000 genomes]
rs7959860	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7963012	0.89[AMR][1000 genomes];0.86[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	nsv832524	chr12:117314110-117496576	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv519118	chr12:117386085-117521180	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv899541	chr12:117414974-117497066	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr12:117384800-117450400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr12:117387800-117463600	Weak transcription	HMEC	breast
3	chr12:117393800-117471000	Weak transcription	Small Intestine	intestine
4	chr12:117408400-117452200	Weak transcription	Thymus	Thymus
5	chr12:117411600-117451800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr12:117417200-117452400	Weak transcription	Psoas Muscle	Psoas
7	chr12:117417400-117453600	Weak transcription	GM12878-XiMat	blood
8	chr12:117426200-117466600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr12:117428200-117447600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr12:117434200-117449800	Weak transcription	NHEK	skin
11	chr12:117435600-117449800	Weak transcription	Stomach Mucosa	stomach
12	chr12:117437000-117447800	Weak transcription	Colon Smooth Muscle	Colon
13	chr12:117437400-117451600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr12:117437600-117448000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr12:117438200-117447600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr12:117440400-117452200	Weak transcription	Brain Cingulate Gyrus	brain
17	chr12:117441200-117449800	Weak transcription	Right Atrium	heart
18	chr12:117441200-117451200	Weak transcription	Fetal Brain Female	brain
19	chr12:117442400-117449600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr12:117442600-117447800	Weak transcription	Brain Germinal Matrix	brain
21	chr12:117443200-117449600	Weak transcription	Fetal Brain Male	brain
22	chr12:117443400-117449200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr12:117443400-117449400	Weak transcription	NHDF-Ad	bronchial
24	chr12:117443400-117449800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr12:117443600-117447800	Weak transcription	Brain Substantia Nigra	brain
26	chr12:117443600-117448000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:117443600-117448400	Weak transcription	Brain Hippocampus Middle	brain
28	chr12:117443600-117449200	Weak transcription	NH-A	brain
29	chr12:117443800-117447600	Weak transcription	Fetal Lung	lung
30	chr12:117443800-117447800	Weak transcription	Hela-S3	cervix
31	chr12:117443800-117452000	Weak transcription	Fetal Heart	heart
32	chr12:117443800-117461600	Weak transcription	Colonic Mucosa	Colon
33	chr12:117444000-117447600	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr12:117444000-117447800	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr12:117444000-117447800	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr12:117444000-117450800	Weak transcription	Fetal Kidney	kidney
37	chr12:117444000-117462800	Weak transcription	K562	blood
38	chr12:117444400-117447600	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr12:117444400-117448000	Weak transcription	NHLF	lung
40	chr12:117444400-117449800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr12:117444400-117451800	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr12:117444400-117452200	Weak transcription	Brain Angular Gyrus	brain
43	chr12:117444600-117447600	Weak transcription	Fetal Intestine Small	intestine
44	chr12:117444600-117447600	Weak transcription	Pancreas	Pancrea
45	chr12:117444600-117447800	Weak transcription	Lung	lung
46	chr12:117444600-117447800	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr12:117444600-117447800	Weak transcription	Spleen	Spleen
48	chr12:117444600-117448000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr12:117444600-117448000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr12:117444600-117448000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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