Variant report

Variant	rs11068908
Chromosome Location	chr12:118765070-118765071
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:118756336..118758349-chr12:118762596..118765319,2	K562	blood:
2	chr12:118758501..118762498-chr12:118764368..118769658,5	K562	blood:
3	chr12:118763625..118770467-chr12:118808483..118814296,9	K562	blood:
4	chr12:118763801..118766450-chr12:118767353..118769145,2	MCF-7	breast:
5	chr12:118764089..118768365-chr12:118776795..118780945,4	K562	blood:
6	chr12:118764873..118767351-chr12:118794759..118796919,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111707	Chromatin interaction
ENSG00000135090	Chromatin interaction
ENSG00000270482	Chromatin interaction

Extended variants
information (count: 185 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:180)

rs_ID	r²[population]
rs10507286	0.92[CEU][hapmap];0.86[TSI][hapmap];0.81[EUR][1000 genomes]
rs1060964	0.92[CEU][hapmap]
rs10850967	0.93[CEU][hapmap]
rs10850968	0.88[CHB][hapmap];0.94[CHD][hapmap];0.87[JPT][hapmap]
rs11068853	0.88[CHB][hapmap]
rs11068854	0.88[CHB][hapmap]
rs11068855	0.88[CHB][hapmap];0.80[JPT][hapmap]
rs11068856	0.88[CHB][hapmap];0.80[JPT][hapmap]
rs11068860	0.88[CHB][hapmap]
rs11068864	0.88[CHB][hapmap]
rs11068865	0.88[CHB][hapmap];0.80[JPT][hapmap]
rs11068870	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11068878	0.90[ASN][1000 genomes]
rs11068880	0.94[CHB][hapmap];0.87[JPT][hapmap];0.91[ASN][1000 genomes]
rs11068881	0.91[ASN][1000 genomes]
rs11068887	0.90[ASN][1000 genomes]
rs11068888	0.90[ASN][1000 genomes]
rs11068889	0.90[ASN][1000 genomes]
rs11068891	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]
rs11068892	0.93[ASN][1000 genomes]
rs11068893	0.94[CHB][hapmap];0.87[JPT][hapmap];0.93[ASN][1000 genomes]
rs11068896	0.90[ASN][1000 genomes]
rs11068898	0.94[CHB][hapmap];0.94[CHD][hapmap];0.87[JPT][hapmap];0.95[ASN][1000 genomes]
rs11068899	0.95[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];0.95[ASN][1000 genomes]
rs11068904	0.88[CHB][hapmap];0.87[JPT][hapmap];0.95[ASN][1000 genomes]
rs11068906	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11068909	0.94[CHB][hapmap];0.97[CHD][hapmap];0.86[JPT][hapmap];0.95[ASN][1000 genomes]
rs11068910	0.95[EUR][1000 genomes]
rs11068914	0.89[ASN][1000 genomes]
rs11068915	0.94[CHB][hapmap];0.89[ASN][1000 genomes]
rs11068916	0.94[CHB][hapmap];0.80[JPT][hapmap];0.86[ASN][1000 genomes]
rs11068917	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.85[GIH][hapmap];0.93[JPT][hapmap];0.95[LWK][hapmap];0.88[MEX][hapmap];0.91[MKK][hapmap];0.90[TSI][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11068919	0.92[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.81[YRI][hapmap];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11068920	0.86[ASN][1000 genomes]
rs11068922	0.85[ASN][1000 genomes]
rs11068923	0.88[CHB][hapmap];0.94[CHD][hapmap];0.93[JPT][hapmap];0.83[ASN][1000 genomes]
rs11068924	0.84[ASN][1000 genomes]
rs11068926	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11068933	0.88[CHB][hapmap];0.94[CHD][hapmap];0.87[JPT][hapmap]
rs11068937	0.88[CHB][hapmap];0.94[CHD][hapmap];0.87[JPT][hapmap]
rs12227411	0.88[CHB][hapmap];0.97[CHD][hapmap];0.86[JPT][hapmap];0.95[ASN][1000 genomes]
rs12227974	0.94[CHB][hapmap];0.94[CHD][hapmap];0.87[JPT][hapmap];0.95[ASN][1000 genomes]
rs12228425	0.94[CHB][hapmap];0.94[CHD][hapmap];0.87[JPT][hapmap];0.95[ASN][1000 genomes]
rs12229607	1.00[CEU][hapmap];0.93[CHB][hapmap];0.86[JPT][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12231358	0.86[ASN][1000 genomes]
rs12231845	0.93[ASN][1000 genomes]
rs12308475	0.94[EUR][1000 genomes]
rs16948193	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs16948197	1.00[CEU][hapmap];0.86[TSI][hapmap];0.86[EUR][1000 genomes]
rs16948204	1.00[CEU][hapmap];0.86[TSI][hapmap];0.85[EUR][1000 genomes]
rs16948230	0.93[CEU][hapmap];0.86[TSI][hapmap];0.86[EUR][1000 genomes]
rs16948234	1.00[CEU][hapmap];0.86[TSI][hapmap];0.88[EUR][1000 genomes]
rs16948250	0.93[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs17433217	0.86[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];0.80[EUR][1000 genomes]
rs17440433	0.92[CEU][hapmap];0.86[TSI][hapmap];0.82[EUR][1000 genomes]
rs17440669	0.93[CEU][hapmap];0.89[EUR][1000 genomes]
rs17440774	0.93[CEU][hapmap];0.88[EUR][1000 genomes]
rs17440823	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
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];0.81[EUR][1000 genomes]
rs17512198	0.92[CEU][hapmap];0.86[TSI][hapmap];0.81[EUR][1000 genomes]
rs17512219	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs17512407	1.00[CEU][hapmap]
rs17512483	0.93[CEU][hapmap]
rs17512525	0.93[CEU][hapmap];0.89[EUR][1000 genomes]
rs17512574	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
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];0.94[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap]
rs17586582	0.94[CHB][hapmap];0.87[JPT][hapmap];0.92[ASN][1000 genomes]
rs17619569	0.88[CHB][hapmap];0.80[JPT][hapmap]
rs17619702	0.93[CHB][hapmap];0.86[JPT][hapmap];0.91[ASN][1000 genomes]
rs17619805	0.94[CHB][hapmap];0.87[JPT][hapmap];0.95[ASN][1000 genomes]
rs17619932	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.94[GIH][hapmap];0.93[JPT][hapmap];1.00[LWK][hapmap];0.88[MEX][hapmap];0.91[MKK][hapmap];0.90[TSI][hapmap];0.95[YRI][hapmap];0.99[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2036314	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2055534	0.93[CEU][hapmap]
rs2062519	0.93[CEU][hapmap];0.85[TSI][hapmap]
rs2062520	0.84[ASN][1000 genomes]
rs2271007	0.88[CHB][hapmap];0.94[CHD][hapmap];0.87[JPT][hapmap]
rs2280711	0.92[CEU][hapmap];0.94[CHB][hapmap];0.94[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2784	0.93[CEU][hapmap]
rs3852532	0.86[EUR][1000 genomes]
rs4442583	0.82[EUR][1000 genomes];0.87[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	0.88[EUR][1000 genomes]
rs56033674	0.86[EUR][1000 genomes]
rs56284927	0.81[EUR][1000 genomes]
rs56708462	0.88[EUR][1000 genomes]
rs58113338	0.86[EUR][1000 genomes]
rs61943364	0.91[EUR][1000 genomes]
rs61943365	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61943369	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61943370	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61943371	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61945175	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61945176	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61945177	0.81[EUR][1000 genomes]
rs61945180	0.83[EUR][1000 genomes]
rs61945181	0.83[EUR][1000 genomes]
rs61945182	0.86[EUR][1000 genomes]
rs61945183	0.86[EUR][1000 genomes]
rs61945184	0.86[EUR][1000 genomes]
rs61945187	0.86[EUR][1000 genomes]
rs61945188	0.86[EUR][1000 genomes]
rs61945190	0.84[EUR][1000 genomes]
rs61945192	0.86[EUR][1000 genomes]
rs61945206	0.86[EUR][1000 genomes]
rs61945207	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61945210	0.85[EUR][1000 genomes]
rs61945212	0.86[EUR][1000 genomes]
rs61945216	0.86[EUR][1000 genomes]
rs61945218	0.85[EUR][1000 genomes]
rs61945219	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61945220	0.86[EUR][1000 genomes]
rs61945221	0.86[EUR][1000 genomes]
rs61945226	0.86[EUR][1000 genomes]
rs61945228	0.88[EUR][1000 genomes]
rs61946063	0.94[EUR][1000 genomes]
rs61946067	0.87[EUR][1000 genomes]
rs61946068	0.89[EUR][1000 genomes]
rs6490173	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs6490175	0.91[EUR][1000 genomes]
rs6490177	0.91[CEU][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7132582	0.93[ASN][1000 genomes]
rs7136216	0.92[CEU][hapmap];0.94[CHB][hapmap];0.94[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes]
rs7136676	0.93[CEU][hapmap]
rs7137055	0.92[CEU][hapmap]
rs7294498	0.93[CEU][hapmap];0.93[TSI][hapmap];0.92[EUR][1000 genomes]
rs7295288	0.92[CEU][hapmap]
rs7296216	0.85[ASN][1000 genomes]
rs7299040	0.93[CEU][hapmap]
rs7302387	1.00[CEU][hapmap]
rs7303417	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs7304342	0.93[CEU][hapmap]
rs7305647	0.93[CEU][hapmap]
rs7307393	0.93[CEU][hapmap];0.89[EUR][1000 genomes]
rs7309484	0.93[CEU][hapmap]
rs7309671	0.93[CEU][hapmap];0.86[TSI][hapmap];0.89[EUR][1000 genomes]
rs7312555	0.93[CEU][hapmap]
rs7314987	1.00[CEU][hapmap]
rs73205512	0.86[EUR][1000 genomes]
rs73205526	0.86[EUR][1000 genomes]
rs73205531	0.88[EUR][1000 genomes]
rs73205551	0.94[EUR][1000 genomes]
rs73222056	0.80[ASN][1000 genomes]
rs73222058	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7954330	0.85[EUR][1000 genomes]
rs7957828	0.94[EUR][1000 genomes]
rs7961312	1.00[CEU][hapmap]
rs7962185	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs7963353	0.86[EUR][1000 genomes]
rs7963464	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7965350	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs7967900	0.85[CEU][hapmap]
rs7970481	0.86[EUR][1000 genomes]
rs7974718	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7977403	0.84[EUR][1000 genomes]
rs884844	0.93[CEU][hapmap]
rs965524	0.93[CEU][hapmap]
rs9669004	0.86[EUR][1000 genomes]
rs9888447	0.94[CHB][hapmap];1.00[CHD][hapmap];0.87[JPT][hapmap];0.95[ASN][1000 genomes]
rs9943819	1.00[CEU][hapmap];0.93[TSI][hapmap];0.95[EUR][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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11068908	SUDS3	cis	parietal	SCAN
rs11068908	PLA2G1B	cis	cerebellum	SCAN

Chromatin state (count:52 , 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	chr12:118732800-118767600	Weak transcription	Primary T cells from cord blood	blood
3	chr12:118745400-118768000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr12:118745800-118766800	Weak transcription	Fetal Intestine Small	intestine
5	chr12:118745800-118767600	Weak transcription	Duodenum Mucosa	Duodenum
6	chr12:118746000-118783200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr12:118746200-118766800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr12:118746200-118785000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr12:118746600-118766600	Weak transcription	HSMM	muscle
10	chr12:118748000-118772400	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr12:118749200-118765800	Weak transcription	Psoas Muscle	Psoas
12	chr12:118752400-118765600	Weak transcription	Primary B cells from cord blood	blood
13	chr12:118752800-118766400	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr12:118752800-118783200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr12:118754600-118766000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr12:118754600-118775000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr12:118754600-118782200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr12:118754800-118768200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr12:118755800-118766800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr12:118756800-118765800	Weak transcription	Primary B cells from peripheral blood	blood
21	chr12:118757200-118769000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr12:118758400-118769000	Weak transcription	Pancreas	Pancrea
23	chr12:118759200-118765400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr12:118759200-118766400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr12:118759400-118765400	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr12:118759400-118765400	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr12:118760200-118768000	Weak transcription	NHEK	skin
28	chr12:118762000-118769000	Weak transcription	Fetal Thymus	thymus
29	chr12:118762200-118766600	Weak transcription	Fetal Stomach	stomach
30	chr12:118762600-118768200	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr12:118763000-118773800	Weak transcription	Dnd41	blood
32	chr12:118763400-118770800	Weak transcription	Thymus	Thymus
33	chr12:118763800-118769000	Weak transcription	Left Ventricle	heart
34	chr12:118764000-118774600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr12:118764200-118766200	Enhancers	NHDF-Ad	bronchial
36	chr12:118764400-118766800	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr12:118764400-118767000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr12:118764600-118765200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr12:118764600-118765600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr12:118764600-118767200	Enhancers	Muscle Satellite Cultured Cells	--
41	chr12:118764800-118765200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr12:118764800-118765200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr12:118764800-118765800	Enhancers	Brain Hippocampus Middle	brain
44	chr12:118764800-118768000	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr12:118764800-118769000	Enhancers	Osteobl	bone
46	chr12:118764800-118769200	Enhancers	Fetal Lung	lung
47	chr12:118764800-118769200	Enhancers	NHLF	lung
48	chr12:118765000-118765200	Enhancers	Placenta Amnion	Placenta Amnion
49	chr12:118765000-118765400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr12:118765000-118766400	Enhancers	Primary hematopoietic stem cells short term culture	blood

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