Variant report

Variant	rs11068893
Chromosome Location	chr12:118702190-118702191
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:118702115..118703635-chr12:118708440..118710565,2	MCF-7	breast:

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10850968	0.94[CHB][hapmap]
rs11068853	0.94[CHB][hapmap];0.93[JPT][hapmap];0.83[YRI][hapmap]
rs11068854	0.94[CHB][hapmap];0.84[JPT][hapmap];0.90[YRI][hapmap]
rs11068855	0.94[CHB][hapmap];0.93[JPT][hapmap];0.83[YRI][hapmap]
rs11068856	0.94[CHB][hapmap];0.93[JPT][hapmap]
rs11068860	0.94[CHB][hapmap];0.92[JPT][hapmap];1.00[EUR][1000 genomes]
rs11068864	0.94[CHB][hapmap];0.92[JPT][hapmap];0.82[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11068865	0.94[CHB][hapmap];0.93[JPT][hapmap];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11068871	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11068872	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11068878	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11068880	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11068881	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11068883	0.85[ASN][1000 genomes]
rs11068887	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11068888	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11068889	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11068891	0.94[CHB][hapmap];0.87[JPT][hapmap];0.95[ASN][1000 genomes]
rs11068892	1.00[ASN][1000 genomes]
rs11068896	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11068898	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11068899	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11068900	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs11068901	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11068904	0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11068906	0.93[ASN][1000 genomes]
rs11068908	0.94[CHB][hapmap];0.87[JPT][hapmap];0.93[ASN][1000 genomes]
rs11068909	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11068914	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11068915	1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11068916	1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11068917	0.94[CHB][hapmap];0.83[ASN][1000 genomes]
rs11068919	0.89[CHB][hapmap];0.82[ASN][1000 genomes]
rs11068920	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11068922	0.84[ASN][1000 genomes]
rs11068923	0.94[CHB][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11068924	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11068926	0.80[ASN][1000 genomes]
rs11068930	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11068933	0.94[CHB][hapmap]
rs11068937	0.94[CHB][hapmap];1.00[EUR][1000 genomes]
rs11068940	1.00[EUR][1000 genomes]
rs11068941	1.00[EUR][1000 genomes]
rs11068943	1.00[EUR][1000 genomes]
rs11068945	1.00[EUR][1000 genomes]
rs12227411	0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12227974	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12228425	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12229607	0.87[CHB][hapmap];0.89[ASN][1000 genomes]
rs12230104	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12231358	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12231845	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16948250	0.89[CHB][hapmap];0.86[JPT][hapmap]
rs17586342	0.88[CHB][hapmap]
rs17586582	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17619569	0.94[CHB][hapmap];0.93[JPT][hapmap];0.83[YRI][hapmap]
rs17619702	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17619805	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17619932	0.94[CHB][hapmap];0.87[ASN][1000 genomes]
rs2036314	0.80[ASN][1000 genomes]
rs2062520	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2271007	0.94[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2280711	0.88[CHB][hapmap]
rs3741444	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4442583	0.80[ASN][1000 genomes]
rs61943365	0.88[ASN][1000 genomes]
rs61943369	0.80[ASN][1000 genomes]
rs61945207	0.91[ASN][1000 genomes]
rs61945219	0.95[ASN][1000 genomes]
rs6490177	0.83[ASN][1000 genomes]
rs7132582	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7136216	0.88[CHB][hapmap]
rs7296216	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73222058	0.93[ASN][1000 genomes]
rs7963464	0.95[ASN][1000 genomes]
rs7974718	0.94[CHB][hapmap];0.87[JPT][hapmap];0.93[ASN][1000 genomes]
rs9888447	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv1035497	chr12:118599539-118732144	Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv541612	chr12:118599539-118732144	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv524938	chr12:118624736-118740675	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118637400-118703800	Weak transcription	Esophagus	oesophagus
2	chr12:118637400-118724000	Weak transcription	Aorta	Aorta
3	chr12:118652200-118727800	Weak transcription	NHLF	lung
4	chr12:118667200-118704600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:118669000-118709000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr12:118669000-118725200	Weak transcription	K562	blood
7	chr12:118673400-118705400	Weak transcription	Colonic Mucosa	Colon
8	chr12:118673400-118710400	Weak transcription	Placenta	Placenta
9	chr12:118673400-118737600	Weak transcription	Brain Hippocampus Middle	brain
10	chr12:118673600-118712000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr12:118673800-118703000	Weak transcription	Thymus	Thymus
12	chr12:118673800-118709200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr12:118673800-118737800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr12:118674000-118706200	Weak transcription	Left Ventricle	heart
15	chr12:118674000-118726200	Weak transcription	Lung	lung
16	chr12:118676000-118745200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr12:118676200-118707400	Weak transcription	HSMM	muscle
18	chr12:118676400-118705000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr12:118676400-118718400	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr12:118676800-118720400	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr12:118677000-118708000	Weak transcription	NHEK	skin
22	chr12:118677000-118708800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr12:118677000-118739800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr12:118683400-118739800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr12:118691000-118702800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr12:118692400-118728000	Weak transcription	Adipose Nuclei	Adipose
27	chr12:118693400-118725600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr12:118693400-118745000	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr12:118693600-118712000	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr12:118693600-118728200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr12:118694200-118702200	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr12:118694400-118703200	Weak transcription	NHDF-Ad	bronchial
33	chr12:118694600-118702200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr12:118694600-118705600	Weak transcription	Fetal Lung	lung
35	chr12:118694600-118707600	Weak transcription	Brain Anterior Caudate	brain
36	chr12:118694600-118739800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr12:118694800-118719800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr12:118695000-118705000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr12:118697000-118705000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr12:118697200-118703800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr12:118697400-118702400	Strong transcription	Primary hematopoietic stem cells	blood
42	chr12:118697400-118704800	Weak transcription	Small Intestine	intestine
43	chr12:118697600-118723600	Weak transcription	Pancreas	Pancrea
44	chr12:118698200-118705000	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr12:118698400-118705000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr12:118698600-118703800	Strong transcription	Dnd41	blood
47	chr12:118698800-118703000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr12:118699000-118703800	Strong transcription	Primary B cells from peripheral blood	blood
49	chr12:118699000-118703800	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr12:118699200-118703800	Strong transcription	Primary T cells fromperipheralblood	blood

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