Variant report

Variant	rs17312766
Chromosome Location	chr12:12640489-12640490
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:12639514..12642208-chr12:12655232..12658211,2	MCF-7	breast:
2	chr12:12639999..12642301-chr12:12760380..12762267,2	MCF-7	breast:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10505767	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11054963	0.93[EUR][1000 genomes]
rs11054972	0.85[EUR][1000 genomes]
rs16908059	0.81[EUR][1000 genomes]
rs16908062	0.81[EUR][1000 genomes]
rs16908072	0.81[EUR][1000 genomes]
rs16908076	0.81[EUR][1000 genomes]
rs16908101	0.81[EUR][1000 genomes]
rs16908146	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16908151	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16908167	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16908171	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16908188	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16908204	0.98[EUR][1000 genomes]
rs16908209	0.95[EUR][1000 genomes]
rs16908214	0.95[EUR][1000 genomes]
rs16916539	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17313536	1.00[ASN][1000 genomes]
rs17378260	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2287204	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2287205	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2417217	1.00[ASN][1000 genomes]
rs3088226	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3751262	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4633541	0.90[EUR][1000 genomes]
rs6488532	1.00[ASN][1000 genomes]
rs745632	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7486371	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7958768	1.00[ASN][1000 genomes]
rs7963695	0.92[EUR][1000 genomes]
rs7973297	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758295	chr12:12620654-12783124	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	esv2759880	chr12:12620654-12783124	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12610800-12658000	Weak transcription	NHDF-Ad	bronchial
2	chr12:12618400-12642200	Weak transcription	Stomach Mucosa	stomach
3	chr12:12621400-12645400	Weak transcription	Small Intestine	intestine
4	chr12:12621600-12646000	Weak transcription	Psoas Muscle	Psoas
5	chr12:12621600-12646200	Weak transcription	Brain Germinal Matrix	brain
6	chr12:12622600-12653800	Weak transcription	Fetal Heart	heart
7	chr12:12626800-12653600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr12:12627600-12642400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr12:12627800-12646200	Weak transcription	Fetal Brain Male	brain
10	chr12:12628600-12647600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr12:12628800-12655800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr12:12630600-12641200	Weak transcription	HSMM	muscle
13	chr12:12630600-12661200	Weak transcription	NHEK	skin
14	chr12:12630800-12640800	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr12:12630800-12640800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr12:12630800-12641400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr12:12630800-12655800	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr12:12630800-12658200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr12:12630800-12658400	Weak transcription	Rectal Smooth Muscle	rectum
20	chr12:12630800-12659600	Weak transcription	Esophagus	oesophagus
21	chr12:12630800-12681000	Weak transcription	Colonic Mucosa	Colon
22	chr12:12631000-12645200	Weak transcription	Gastric	stomach
23	chr12:12631400-12641000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr12:12632800-12658200	Weak transcription	Ovary	ovary
25	chr12:12633000-12640800	Weak transcription	A549	lung
26	chr12:12633000-12658600	Weak transcription	Fetal Kidney	kidney
27	chr12:12633400-12648800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr12:12633600-12641400	Weak transcription	Osteobl	bone
29	chr12:12634400-12685200	Weak transcription	Hela-S3	cervix
30	chr12:12634800-12658800	Weak transcription	HSMMtube	muscle
31	chr12:12635000-12641200	Strong transcription	Fetal Muscle Leg	muscle
32	chr12:12635000-12647400	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr12:12635600-12644600	Weak transcription	K562	blood
34	chr12:12636000-12645600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr12:12636000-12653400	Weak transcription	Right Ventricle	heart
36	chr12:12636200-12655800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr12:12636600-12646200	Weak transcription	Primary B cells from cord blood	blood
38	chr12:12636800-12640800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr12:12636800-12645400	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr12:12636800-12645600	Weak transcription	Spleen	Spleen
41	chr12:12636800-12647400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr12:12636800-12656800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr12:12637200-12644600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr12:12637200-12651600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr12:12637400-12644600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr12:12637800-12640600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr12:12637800-12640800	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr12:12637800-12641800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
49	chr12:12637800-12642200	Strong transcription	Fetal Muscle Trunk	muscle
50	chr12:12638400-12642400	Strong transcription	H1 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links