Variant report

Variant	rs11068910
Chromosome Location	chr12:118773881-118773882
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:118766497..118768322-chr12:118773115..118775978,2	MCF-7	breast:

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10082823	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10850967	0.90[CHB][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11068870	0.82[EUR][1000 genomes]
rs11068891	0.90[EUR][1000 genomes]
rs11068905	0.90[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs11068906	0.92[EUR][1000 genomes]
rs11068908	0.95[EUR][1000 genomes]
rs11068917	0.84[EUR][1000 genomes]
rs11068919	0.81[EUR][1000 genomes]
rs12229607	0.95[EUR][1000 genomes]
rs12308475	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16948193	0.82[EUR][1000 genomes]
rs16948197	0.82[EUR][1000 genomes]
rs16948204	0.80[EUR][1000 genomes]
rs16948230	0.82[EUR][1000 genomes]
rs16948234	0.84[EUR][1000 genomes]
rs17433217	0.82[EUR][1000 genomes]
rs17440669	0.84[EUR][1000 genomes]
rs17440774	0.83[EUR][1000 genomes]
rs17512525	0.84[EUR][1000 genomes]
rs17619932	0.85[EUR][1000 genomes]
rs2036489	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2062519	0.95[CHB][hapmap];0.94[JPT][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2280711	0.87[EUR][1000 genomes]
rs3852532	0.82[EUR][1000 genomes]
rs4766899	0.89[CHB][hapmap];0.94[JPT][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55833534	0.84[EUR][1000 genomes]
rs56033674	0.82[EUR][1000 genomes]
rs56324376	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56708462	0.84[EUR][1000 genomes]
rs58113338	0.82[EUR][1000 genomes]
rs59594854	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61943364	0.86[EUR][1000 genomes]
rs61943365	0.82[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs61945175	0.86[EUR][1000 genomes]
rs61945176	0.86[EUR][1000 genomes]
rs61945182	0.82[EUR][1000 genomes]
rs61945183	0.82[EUR][1000 genomes]
rs61945184	0.82[EUR][1000 genomes]
rs61945187	0.82[EUR][1000 genomes]
rs61945188	0.82[EUR][1000 genomes]
rs61945192	0.82[EUR][1000 genomes]
rs61945206	0.82[EUR][1000 genomes]
rs61945207	0.87[EUR][1000 genomes]
rs61945210	0.80[EUR][1000 genomes]
rs61945212	0.82[EUR][1000 genomes]
rs61945216	0.82[EUR][1000 genomes]
rs61945218	0.80[EUR][1000 genomes]
rs61945219	0.90[EUR][1000 genomes]
rs61945220	0.82[EUR][1000 genomes]
rs61945221	0.82[EUR][1000 genomes]
rs61945226	0.82[EUR][1000 genomes]
rs61945228	0.84[EUR][1000 genomes]
rs61946063	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61946067	0.83[EUR][1000 genomes]
rs61946068	0.84[EUR][1000 genomes]
rs6490173	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6490175	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6490177	0.83[EUR][1000 genomes]
rs7136216	0.80[EUR][1000 genomes]
rs7294498	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7296214	0.85[ASN][1000 genomes]
rs7303417	0.82[EUR][1000 genomes]
rs7307393	0.84[EUR][1000 genomes]
rs7309671	0.84[EUR][1000 genomes]
rs7315458	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73205512	0.82[EUR][1000 genomes]
rs73205526	0.82[EUR][1000 genomes]
rs73205531	0.84[EUR][1000 genomes]
rs73205551	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73222058	0.90[EUR][1000 genomes]
rs7954330	0.80[EUR][1000 genomes]
rs7957828	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7962185	0.82[EUR][1000 genomes]
rs7963353	0.82[EUR][1000 genomes]
rs7963464	0.90[EUR][1000 genomes]
rs7965350	0.82[EUR][1000 genomes]
rs7970481	0.82[EUR][1000 genomes]
rs7974718	0.90[EUR][1000 genomes]
rs9669004	0.82[EUR][1000 genomes]
rs9943819	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053785	chr12:118490955-118874194	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1038224	chr12:118648415-118791388	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1040061	chr12:118648415-118800437	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv1053417	chr12:118688969-118808530	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv560390	chr12:118756336-118778232	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118720800-118793600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr12:118746000-118783200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr12:118746200-118785000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr12:118752800-118783200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr12:118754600-118775000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:118754600-118782200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr12:118764000-118774600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr12:118767000-118775000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr12:118767200-118774000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr12:118767400-118778600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr12:118767800-118775200	Weak transcription	HSMM	muscle
12	chr12:118768400-118776600	Weak transcription	Fetal Stomach	stomach
13	chr12:118768800-118775800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr12:118768800-118790400	Weak transcription	Primary T cells from cord blood	blood
15	chr12:118769000-118778000	Weak transcription	Stomach Mucosa	stomach
16	chr12:118769000-118783200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr12:118769000-118783200	Weak transcription	Brain Anterior Caudate	brain
18	chr12:118769000-118784000	Weak transcription	Duodenum Mucosa	Duodenum
19	chr12:118769200-118775400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr12:118769200-118776200	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr12:118769200-118776600	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr12:118769200-118782000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr12:118769200-118783200	Weak transcription	Gastric	stomach
24	chr12:118769200-118785000	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr12:118769200-118785800	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr12:118769200-118791000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr12:118769800-118782600	Weak transcription	Fetal Intestine Small	intestine
28	chr12:118770000-118785200	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr12:118770600-118775000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr12:118770600-118776200	Weak transcription	K562	blood
31	chr12:118770600-118780400	Weak transcription	Primary B cells from peripheral blood	blood
32	chr12:118770800-118774600	Weak transcription	Primary B cells from cord blood	blood
33	chr12:118771200-118774600	Weak transcription	Fetal Lung	lung
34	chr12:118771400-118775200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr12:118771800-118776600	Weak transcription	Primary hematopoietic stem cells	blood
36	chr12:118772200-118774200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr12:118772600-118774000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr12:118772600-118774200	Enhancers	Primary neutrophils fromperipheralblood	blood
39	chr12:118772600-118774200	Enhancers	Monocytes-CD14+_RO01746	blood
40	chr12:118773000-118775800	Enhancers	Osteobl	bone
41	chr12:118773000-118776200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr12:118773200-118774200	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr12:118773200-118774200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr12:118773200-118775200	Enhancers	NHLF	lung
45	chr12:118773200-118776400	Enhancers	Hela-S3	cervix
46	chr12:118773600-118780400	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr12:118773800-118774000	Flanking Active TSS	A549	lung
48	chr12:118773800-118774000	ZNF genes & repeats	Dnd41	blood
49	chr12:118773800-118774200	Enhancers	HepG2	liver
50	chr12:118773800-118775600	Weak transcription	GM12878-XiMat	blood

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