Variant report

Variant	rs11068891
Chromosome Location	chr12:118697619-118697620
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	chr12:118697555..118699270-chr12:118703351..118704934,2	K562	blood:

Extended variants
information (count: 190 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:183)

rs_ID	r²[population]
rs10507286	0.92[CEU][hapmap];0.86[TSI][hapmap];0.85[EUR][1000 genomes]
rs1060964	0.92[CEU][hapmap]
rs10850967	0.93[CEU][hapmap]
rs10850968	0.88[CHB][hapmap];0.88[CHD][hapmap];0.87[JPT][hapmap]
rs11068853	0.88[CHB][hapmap]
rs11068854	0.88[CHB][hapmap]
rs11068855	0.88[CHB][hapmap];0.88[CHD][hapmap];0.81[JPT][hapmap]
rs11068856	0.88[CHB][hapmap];0.81[JPT][hapmap]
rs11068860	0.88[CHB][hapmap];0.82[CHD][hapmap]
rs11068864	0.88[CHB][hapmap]
rs11068865	0.88[CHB][hapmap];0.88[CHD][hapmap];0.81[JPT][hapmap]
rs11068870	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11068878	0.91[ASN][1000 genomes]
rs11068880	0.94[CHB][hapmap];0.87[JPT][hapmap];0.95[YRI][hapmap];0.80[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs11068881	0.93[ASN][1000 genomes]
rs11068883	0.81[ASN][1000 genomes]
rs11068887	0.91[ASN][1000 genomes]
rs11068888	0.92[ASN][1000 genomes]
rs11068889	0.92[ASN][1000 genomes]
rs11068892	0.95[ASN][1000 genomes]
rs11068893	0.94[CHB][hapmap];0.87[JPT][hapmap];0.95[ASN][1000 genomes]
rs11068896	0.88[ASN][1000 genomes]
rs11068898	0.94[CHB][hapmap];0.94[CHD][hapmap];0.87[JPT][hapmap];0.93[ASN][1000 genomes]
rs11068899	0.93[ASN][1000 genomes]
rs11068900	0.94[CHB][hapmap];0.87[JPT][hapmap]
rs11068901	0.94[CHB][hapmap];0.94[CHD][hapmap];0.87[JPT][hapmap];0.93[ASN][1000 genomes]
rs11068904	0.88[CHB][hapmap];0.87[JPT][hapmap];0.93[ASN][1000 genomes]
rs11068906	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11068908	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11068909	0.94[CHB][hapmap];0.91[CHD][hapmap];0.86[JPT][hapmap];0.93[ASN][1000 genomes]
rs11068910	0.90[EUR][1000 genomes]
rs11068914	0.87[ASN][1000 genomes]
rs11068915	0.94[CHB][hapmap];0.87[ASN][1000 genomes]
rs11068916	0.94[CHB][hapmap];0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs11068917	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.93[JPT][hapmap];0.88[MEX][hapmap];0.90[TSI][hapmap];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11068919	0.92[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11068920	0.82[ASN][1000 genomes]
rs11068922	0.83[ASN][1000 genomes]
rs11068923	0.88[CHB][hapmap];0.88[CHD][hapmap];0.93[JPT][hapmap];0.81[ASN][1000 genomes]
rs11068924	0.80[ASN][1000 genomes]
rs11068926	0.83[ASN][1000 genomes]
rs11068933	0.88[CHB][hapmap];0.88[CHD][hapmap];0.87[JPT][hapmap]
rs11068937	0.88[CHB][hapmap];0.88[CHD][hapmap];0.87[JPT][hapmap]
rs12227411	0.89[ASW][hapmap];0.88[CHB][hapmap];0.91[CHD][hapmap];0.86[JPT][hapmap];0.92[LWK][hapmap];0.95[YRI][hapmap];0.93[ASN][1000 genomes]
rs12227974	0.94[CHB][hapmap];0.94[CHD][hapmap];0.87[JPT][hapmap];0.93[ASN][1000 genomes]
rs12228425	0.94[CHB][hapmap];0.94[CHD][hapmap];0.87[JPT][hapmap];0.93[ASN][1000 genomes]
rs12229607	1.00[CEU][hapmap];0.93[CHB][hapmap];0.86[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12231358	0.82[ASN][1000 genomes]
rs12231845	0.91[ASN][1000 genomes]
rs12308475	0.91[EUR][1000 genomes]
rs16948193	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs16948197	1.00[CEU][hapmap];0.86[TSI][hapmap];0.91[EUR][1000 genomes]
rs16948204	1.00[CEU][hapmap];0.86[TSI][hapmap];0.89[EUR][1000 genomes]
rs16948230	0.93[CEU][hapmap];0.86[TSI][hapmap];0.91[EUR][1000 genomes]
rs16948234	1.00[CEU][hapmap];0.86[TSI][hapmap];0.89[EUR][1000 genomes]
rs16948250	0.93[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs17433217	0.91[EUR][1000 genomes]
rs17440315	0.92[CEU][hapmap];0.83[TSI][hapmap]
rs17440336	0.92[CEU][hapmap];0.86[TSI][hapmap]
rs17440364	0.92[CEU][hapmap];0.83[TSI][hapmap];0.85[EUR][1000 genomes]
rs17440433	0.92[CEU][hapmap];0.86[TSI][hapmap];0.86[EUR][1000 genomes]
rs17440669	0.93[CEU][hapmap];0.85[EUR][1000 genomes]
rs17440774	0.93[CEU][hapmap];0.84[EUR][1000 genomes]
rs17440823	1.00[CEU][hapmap]
rs17440893	0.93[CEU][hapmap]
rs17440942	0.93[CEU][hapmap]
rs17440956	0.93[CEU][hapmap]
rs17441033	0.83[CEU][hapmap]
rs17441061	0.93[CEU][hapmap]
rs17441075	0.84[CEU][hapmap]
rs17512142	0.92[CEU][hapmap]
rs17512177	0.91[CEU][hapmap];0.85[EUR][1000 genomes]
rs17512198	0.92[CEU][hapmap];0.86[TSI][hapmap];0.85[EUR][1000 genomes]
rs17512219	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs17512407	1.00[CEU][hapmap]
rs17512483	0.93[CEU][hapmap]
rs17512525	0.93[CEU][hapmap];0.85[EUR][1000 genomes]
rs17512574	1.00[CEU][hapmap]
rs17512609	1.00[CEU][hapmap]
rs17512644	0.93[CEU][hapmap]
rs17512652	0.92[CEU][hapmap]
rs17512763	0.93[CEU][hapmap]
rs17586342	0.92[CEU][hapmap];0.94[CHB][hapmap];0.88[CHD][hapmap];0.97[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs17586582	0.94[CHB][hapmap];0.87[JPT][hapmap];0.90[ASN][1000 genomes]
rs17619569	0.88[CHB][hapmap];0.88[CHD][hapmap];0.81[JPT][hapmap]
rs17619702	0.93[CHB][hapmap];0.86[JPT][hapmap];0.93[ASN][1000 genomes]
rs17619805	0.94[CHB][hapmap];0.87[JPT][hapmap];0.93[ASN][1000 genomes]
rs17619932	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.86[GIH][hapmap];0.93[JPT][hapmap];0.88[MEX][hapmap];0.90[TSI][hapmap];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2036314	0.83[ASN][1000 genomes]
rs2055534	0.93[CEU][hapmap]
rs2062519	0.93[CEU][hapmap];0.85[TSI][hapmap]
rs2062520	0.80[ASN][1000 genomes]
rs2271007	0.88[CHB][hapmap];0.88[CHD][hapmap];0.87[JPT][hapmap]
rs2280711	0.92[CEU][hapmap];0.94[CHB][hapmap];0.88[CHD][hapmap];0.97[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2784	0.93[CEU][hapmap]
rs3852532	0.91[EUR][1000 genomes]
rs4442583	0.83[ASN][1000 genomes]
rs4766899	0.93[CEU][hapmap];0.85[TSI][hapmap]
rs4766900	0.93[CEU][hapmap]
rs4767669	0.93[CEU][hapmap]
rs4767670	0.93[CEU][hapmap]
rs4767671	0.92[CEU][hapmap]
rs4767672	0.92[CEU][hapmap]
rs55833534	0.89[EUR][1000 genomes]
rs56033674	0.91[EUR][1000 genomes]
rs56708462	0.89[EUR][1000 genomes]
rs58113338	0.91[EUR][1000 genomes]
rs58884645	0.82[EUR][1000 genomes]
rs61943364	0.86[EUR][1000 genomes]
rs61943365	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61943369	0.83[ASN][1000 genomes]
rs61943370	0.81[ASN][1000 genomes]
rs61943371	0.81[ASN][1000 genomes]
rs61943535	0.80[EUR][1000 genomes]
rs61943538	0.80[EUR][1000 genomes]
rs61945175	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61945176	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61945177	0.85[EUR][1000 genomes]
rs61945180	0.87[EUR][1000 genomes]
rs61945181	0.87[EUR][1000 genomes]
rs61945182	0.91[EUR][1000 genomes]
rs61945183	0.91[EUR][1000 genomes]
rs61945184	0.91[EUR][1000 genomes]
rs61945187	0.91[EUR][1000 genomes]
rs61945188	0.91[EUR][1000 genomes]
rs61945190	0.88[EUR][1000 genomes]
rs61945192	0.91[EUR][1000 genomes]
rs61945206	0.91[EUR][1000 genomes]
rs61945207	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61945210	0.89[EUR][1000 genomes]
rs61945212	0.91[EUR][1000 genomes]
rs61945216	0.91[EUR][1000 genomes]
rs61945218	0.89[EUR][1000 genomes]
rs61945219	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61945220	0.91[EUR][1000 genomes]
rs61945221	0.91[EUR][1000 genomes]
rs61945226	0.87[EUR][1000 genomes]
rs61945228	0.85[EUR][1000 genomes]
rs61946063	0.91[EUR][1000 genomes]
rs61946067	0.83[EUR][1000 genomes]
rs61946068	0.85[EUR][1000 genomes]
rs6490173	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs6490175	0.89[EUR][1000 genomes]
rs6490177	0.91[CEU][hapmap];0.86[ASN][1000 genomes]
rs7132582	0.95[ASN][1000 genomes]
rs7136216	0.92[CEU][hapmap];0.94[CHB][hapmap];0.88[CHD][hapmap];0.97[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs7136676	0.93[CEU][hapmap]
rs7137055	0.92[CEU][hapmap]
rs7294498	0.93[CEU][hapmap];0.93[TSI][hapmap];0.88[EUR][1000 genomes]
rs7295288	0.92[CEU][hapmap]
rs7296216	0.83[ASN][1000 genomes]
rs7299040	0.93[CEU][hapmap]
rs7302387	1.00[CEU][hapmap]
rs7303417	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs7304342	0.93[CEU][hapmap]
rs7305647	0.93[CEU][hapmap]
rs7307393	0.93[CEU][hapmap];0.85[EUR][1000 genomes]
rs7309484	0.93[CEU][hapmap]
rs7309671	0.93[CEU][hapmap];0.86[TSI][hapmap];0.85[EUR][1000 genomes]
rs7312555	0.93[CEU][hapmap]
rs7314987	1.00[CEU][hapmap]
rs73205512	0.91[EUR][1000 genomes]
rs73205526	0.91[EUR][1000 genomes]
rs73205531	0.89[EUR][1000 genomes]
rs73205551	0.90[EUR][1000 genomes]
rs73222056	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs73222058	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7954330	0.89[EUR][1000 genomes]
rs7957828	0.91[EUR][1000 genomes]
rs7961312	1.00[CEU][hapmap]
rs7962185	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs7963353	0.91[EUR][1000 genomes]
rs7963464	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7965350	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs7967900	0.85[CEU][hapmap]
rs7970481	0.91[EUR][1000 genomes]
rs7974718	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7977403	0.88[EUR][1000 genomes]
rs884844	0.93[CEU][hapmap]
rs965524	0.93[CEU][hapmap]
rs9669004	0.87[EUR][1000 genomes]
rs9888447	0.94[CHB][hapmap];0.88[CHD][hapmap];0.87[JPT][hapmap];0.93[ASN][1000 genomes]
rs9943819	1.00[CEU][hapmap];0.93[TSI][hapmap];0.90[EUR][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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11068891	PLA2G1B	cis	cerebellum	SCAN
rs11068891	SUDS3	cis	parietal	SCAN

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118637200-118700600	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr12:118637200-118700800	Weak transcription	Fetal Muscle Leg	muscle
3	chr12:118637400-118701400	Weak transcription	Spleen	Spleen
4	chr12:118637400-118703800	Weak transcription	Esophagus	oesophagus
5	chr12:118637400-118724000	Weak transcription	Aorta	Aorta
6	chr12:118652200-118727800	Weak transcription	NHLF	lung
7	chr12:118666800-118701000	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr12:118667200-118704600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:118669000-118709000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr12:118669000-118725200	Weak transcription	K562	blood
11	chr12:118671200-118701800	Weak transcription	Right Ventricle	heart
12	chr12:118673200-118698800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr12:118673200-118701600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr12:118673400-118705400	Weak transcription	Colonic Mucosa	Colon
15	chr12:118673400-118710400	Weak transcription	Placenta	Placenta
16	chr12:118673400-118737600	Weak transcription	Brain Hippocampus Middle	brain
17	chr12:118673600-118712000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr12:118673800-118703000	Weak transcription	Thymus	Thymus
19	chr12:118673800-118709200	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr12:118673800-118737800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr12:118674000-118700800	Weak transcription	Stomach Smooth Muscle	stomach
22	chr12:118674000-118706200	Weak transcription	Left Ventricle	heart
23	chr12:118674000-118726200	Weak transcription	Lung	lung
24	chr12:118676000-118745200	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr12:118676200-118707400	Weak transcription	HSMM	muscle
26	chr12:118676400-118705000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr12:118676400-118718400	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr12:118676800-118720400	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr12:118677000-118708000	Weak transcription	NHEK	skin
30	chr12:118677000-118708800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr12:118677000-118739800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr12:118682400-118699200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr12:118683200-118699600	Weak transcription	Fetal Intestine Small	intestine
34	chr12:118683400-118699200	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr12:118683400-118739800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr12:118685600-118699400	Weak transcription	Ovary	ovary
37	chr12:118691000-118702800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr12:118692400-118728000	Weak transcription	Adipose Nuclei	Adipose
39	chr12:118693400-118698800	Weak transcription	Duodenum Mucosa	Duodenum
40	chr12:118693400-118698800	Weak transcription	Fetal Intestine Large	intestine
41	chr12:118693400-118698800	Weak transcription	Fetal Stomach	stomach
42	chr12:118693400-118725600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr12:118693400-118745000	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr12:118693600-118698800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr12:118693600-118702000	Weak transcription	Liver	Liver
46	chr12:118693600-118712000	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr12:118693600-118728200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr12:118694200-118698800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr12:118694200-118699000	Weak transcription	Osteobl	bone
50	chr12:118694200-118702200	Weak transcription	Primary T helper cells PMA-I stimulated	--

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