Variant report

Variant	rs16908072
Chromosome Location	chr12:12594137-12594138
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:12590405..12593794-chr12:12593958..12596387,3	MCF-7	breast:
2	chr12:12593955..12596511-chr12:12738215..12739887,2	MCF-7	breast:
3	chr12:12586894..12590134-chr12:12591817..12594282,3	K562	blood:
4	chr12:12584022..12586208-chr12:12592875..12596434,3	MCF-7	breast:
5	chr12:12588163..12590134-chr12:12591817..12594282,2	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10505765	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10505767	0.82[EUR][1000 genomes]
rs10772566	0.88[JPT][hapmap];0.87[ASN][1000 genomes]
rs10772567	0.88[JPT][hapmap];0.87[ASN][1000 genomes]
rs10845542	0.87[ASN][1000 genomes]
rs10845544	0.87[ASN][1000 genomes]
rs11054894	0.80[ASN][1000 genomes]
rs11054963	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs11829916	0.87[ASN][1000 genomes]
rs1544682	0.87[ASN][1000 genomes]
rs16907990	1.00[CEU][hapmap];0.94[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16908050	0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16908059	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16908062	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16908076	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16908101	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16908146	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs16908151	0.85[EUR][1000 genomes]
rs16908167	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs16908171	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs16908188	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs16908204	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs16908209	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs16908214	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs16916539	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs17312766	0.81[EUR][1000 genomes]
rs17378260	0.81[EUR][1000 genomes]
rs2160586	0.88[JPT][hapmap];0.87[ASN][1000 genomes]
rs2193269	0.83[ASN][1000 genomes]
rs2193270	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs2287204	0.85[EUR][1000 genomes]
rs2287205	0.85[EUR][1000 genomes]
rs28853875	0.83[ASN][1000 genomes]
rs3088226	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs3751262	1.00[CEU][hapmap];0.81[CHB][hapmap];0.87[EUR][1000 genomes]
rs3803098	1.00[CEU][hapmap];0.81[CHB][hapmap]
rs4633541	0.81[EUR][1000 genomes]
rs56089442	0.84[ASN][1000 genomes]
rs56701819	0.89[ASN][1000 genomes]
rs56796062	0.83[ASN][1000 genomes]
rs56915387	0.90[ASN][1000 genomes]
rs57348917	0.80[ASN][1000 genomes]
rs60253266	0.85[ASN][1000 genomes]
rs61543155	0.88[ASN][1000 genomes]
rs7132813	1.00[AFR][1000 genomes]
rs7135655	0.87[CHB][hapmap]
rs7300150	0.82[ASN][1000 genomes]
rs745632	0.82[EUR][1000 genomes]
rs7486371	1.00[CEU][hapmap];0.87[CHB][hapmap];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7963695	1.00[CEU][hapmap]
rs7967111	0.82[ASN][1000 genomes]
rs9645752	0.83[JPT][hapmap]

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	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12582600-12595000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr12:12582600-12599400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr12:12582800-12596400	Weak transcription	Spleen	Spleen
4	chr12:12584000-12598600	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr12:12585600-12595200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr12:12585800-12595400	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr12:12586000-12594200	Weak transcription	Hela-S3	cervix
8	chr12:12586000-12595000	Weak transcription	Adipose Nuclei	Adipose
9	chr12:12586200-12595000	Weak transcription	Colon Smooth Muscle	Colon
10	chr12:12586200-12595400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr12:12586600-12594200	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr12:12587000-12594800	Weak transcription	Aorta	Aorta
13	chr12:12587000-12594800	Weak transcription	Esophagus	oesophagus
14	chr12:12587000-12594800	Weak transcription	Placenta	Placenta
15	chr12:12587200-12594200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr12:12587200-12595200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr12:12587200-12596400	Weak transcription	Fetal Muscle Trunk	muscle
18	chr12:12587200-12596400	Weak transcription	Gastric	stomach
19	chr12:12587400-12594200	Weak transcription	Brain Cingulate Gyrus	brain
20	chr12:12587400-12594800	Weak transcription	NHLF	lung
21	chr12:12587400-12595000	Weak transcription	NHDF-Ad	bronchial
22	chr12:12587400-12595400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr12:12587400-12595400	Weak transcription	Stomach Smooth Muscle	stomach
24	chr12:12587400-12595800	Weak transcription	Fetal Stomach	stomach
25	chr12:12587400-12600200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr12:12587400-12600200	Weak transcription	Ovary	ovary
27	chr12:12588000-12594200	Weak transcription	Fetal Intestine Large	intestine
28	chr12:12588000-12595800	Weak transcription	Rectal Smooth Muscle	rectum
29	chr12:12588400-12595400	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr12:12588600-12599400	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr12:12589200-12594800	Weak transcription	Brain Hippocampus Middle	brain
32	chr12:12589400-12595600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr12:12589600-12594200	Weak transcription	Primary hematopoietic stem cells	blood
34	chr12:12589600-12594200	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr12:12589800-12607200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr12:12590000-12599400	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr12:12590200-12594800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr12:12590400-12594400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr12:12590400-12599200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr12:12590400-12601800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr12:12590600-12599600	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr12:12590600-12614600	Weak transcription	Primary B cells from cord blood	blood
43	chr12:12590800-12599600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
44	chr12:12591000-12594200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr12:12591000-12594200	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr12:12591000-12594200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr12:12591000-12594200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr12:12591800-12596800	Enhancers	NHEK	skin
49	chr12:12592000-12594400	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr12:12592000-12594600	Enhancers	Primary T cells fromperipheralblood	blood

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