Variant report

Variant	rs11068880
Chromosome Location	chr12:118674875-118674876
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:118674302..118676883-chr12:118810896..118813058,3	MCF-7	breast:
2	chr12:118629722..118631578-chr12:118673558..118677291,3	K562	blood:
3	chr12:118674498..118676641-chr12:118709744..118711259,2	MCF-7	breast:
4	chr12:118673323..118676031-chr12:118677378..118679199,2	MCF-7	breast:
5	chr12:118673643..118676401-chr12:118686637..118689650,3	K562	blood:

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10850968	0.94[CHB][hapmap]
rs11068853	0.94[CHB][hapmap];0.92[JPT][hapmap]
rs11068854	0.94[CHB][hapmap];0.84[JPT][hapmap]
rs11068855	0.94[CHB][hapmap];0.93[JPT][hapmap]
rs11068856	0.94[CHB][hapmap];0.93[JPT][hapmap]
rs11068860	0.94[CHB][hapmap];0.92[JPT][hapmap];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11068864	0.94[CHB][hapmap];0.92[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11068865	0.94[CHB][hapmap];0.93[JPT][hapmap];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11068870	0.83[AFR][1000 genomes]
rs11068871	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11068872	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11068878	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11068881	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11068883	0.87[ASN][1000 genomes]
rs11068887	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11068888	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11068889	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11068891	0.94[CHB][hapmap];0.87[JPT][hapmap];0.95[YRI][hapmap];0.80[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs11068892	0.98[ASN][1000 genomes]
rs11068893	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11068896	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11068898	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11068899	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11068900	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11068901	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11068904	0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11068906	0.91[ASN][1000 genomes]
rs11068908	0.94[CHB][hapmap];0.87[JPT][hapmap];0.91[ASN][1000 genomes]
rs11068909	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11068914	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11068915	1.00[CHB][hapmap];0.86[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11068916	1.00[CHB][hapmap];0.93[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11068917	0.94[CHB][hapmap];0.81[ASN][1000 genomes]
rs11068919	0.89[CHB][hapmap];0.80[ASN][1000 genomes]
rs11068920	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11068922	0.82[ASN][1000 genomes]
rs11068923	0.94[CHB][hapmap];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11068924	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11068930	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11068933	0.94[CHB][hapmap]
rs11068937	0.94[CHB][hapmap];1.00[EUR][1000 genomes]
rs11068940	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11068941	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11068943	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11068945	1.00[EUR][1000 genomes]
rs12227411	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12227974	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12228425	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12229607	0.87[CHB][hapmap];0.88[ASN][1000 genomes]
rs12230104	1.00[EUR][1000 genomes]
rs12231358	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12231845	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[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];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17619569	0.94[CHB][hapmap];0.93[JPT][hapmap]
rs17619702	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17619805	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17619932	0.94[CHB][hapmap];0.85[ASN][1000 genomes]
rs2062520	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2271007	0.94[CHB][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2280711	0.88[CHB][hapmap];0.82[YRI][hapmap];0.81[ASN][1000 genomes]
rs3741444	1.00[EUR][1000 genomes]
rs61943365	0.86[ASN][1000 genomes]
rs61945207	0.81[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs61945219	0.93[ASN][1000 genomes]
rs6490177	0.81[ASN][1000 genomes]
rs7132582	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7136216	0.88[CHB][hapmap]
rs7296216	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73222056	0.81[ASN][1000 genomes]
rs73222058	0.95[ASN][1000 genomes]
rs7963464	0.80[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs7974718	0.94[CHB][hapmap];0.87[JPT][hapmap];0.86[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs9888447	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[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	esv1815572	chr12:118664823-118685792	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118621000-118682600	Weak transcription	A549	lung
2	chr12:118628400-118697200	Weak transcription	Psoas Muscle	Psoas
3	chr12:118636800-118695000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr12:118637200-118700600	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr12:118637200-118700800	Weak transcription	Fetal Muscle Leg	muscle
6	chr12:118637400-118684200	Weak transcription	Pancreas	Pancrea
7	chr12:118637400-118694200	Weak transcription	Brain Angular Gyrus	brain
8	chr12:118637400-118701400	Weak transcription	Spleen	Spleen
9	chr12:118637400-118703800	Weak transcription	Esophagus	oesophagus
10	chr12:118637400-118724000	Weak transcription	Aorta	Aorta
11	chr12:118638800-118687800	Weak transcription	Gastric	stomach
12	chr12:118650400-118690400	Weak transcription	Stomach Mucosa	stomach
13	chr12:118650600-118679400	Weak transcription	HUVEC	blood vessel
14	chr12:118652200-118727800	Weak transcription	NHLF	lung
15	chr12:118658000-118685400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr12:118659000-118675200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr12:118659000-118693800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr12:118666200-118677000	Strong transcription	Dnd41	blood
19	chr12:118666800-118701000	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr12:118667200-118704600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr12:118667400-118676600	Weak transcription	Hela-S3	cervix
22	chr12:118667800-118677600	Weak transcription	Fetal Intestine Small	intestine
23	chr12:118669000-118709000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr12:118669000-118725200	Weak transcription	K562	blood
25	chr12:118671200-118676000	Strong transcription	NHDF-Ad	bronchial
26	chr12:118671200-118677000	Strong transcription	Duodenum Mucosa	Duodenum
27	chr12:118671200-118677000	Strong transcription	Fetal Intestine Large	intestine
28	chr12:118671200-118677200	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr12:118671200-118701800	Weak transcription	Right Ventricle	heart
30	chr12:118671400-118675200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr12:118671400-118675400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr12:118671400-118676800	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr12:118671400-118677000	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr12:118671400-118677000	Strong transcription	Liver	Liver
35	chr12:118671400-118683400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr12:118672000-118676000	Strong transcription	Adipose Nuclei	Adipose
37	chr12:118672200-118676000	Strong transcription	Fetal Thymus	thymus
38	chr12:118672200-118676200	Strong transcription	HSMM	muscle
39	chr12:118672200-118677000	Strong transcription	Primary T cells from cord blood	blood
40	chr12:118672400-118676200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr12:118672400-118677600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr12:118672600-118675400	Weak transcription	Fetal Brain Male	brain
43	chr12:118672600-118676000	Strong transcription	Duodenum Smooth Muscle	Duodenum
44	chr12:118672800-118675200	Strong transcription	Osteobl	bone
45	chr12:118672800-118681600	Weak transcription	Fetal Stomach	stomach
46	chr12:118673200-118698800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr12:118673200-118701600	Weak transcription	Rectal Smooth Muscle	rectum
48	chr12:118673400-118675600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr12:118673400-118675800	Weak transcription	NH-A	brain
50	chr12:118673400-118677000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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