Variant report

Variant	rs2278068
Chromosome Location	chr12:49944588-49944589
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:49936026..49937572-chr12:49942956..49945602,2	K562	blood:
2	chr12:49943317..49945018-chr12:49958797..49961139,2	K562	blood:
3	chr12:49931274..49936005-chr12:49943051..49946094,6	K562	blood:
4	chr12:49758090..49762166-chr12:49940541..49945539,5	K562	blood:
5	chr12:49758090..49761584-chr12:49941577..49946568,5	K562	blood:
6	chr12:49939089..49944852-chr12:49945260..49949994,8	MCF-7	breast:
7	chr12:49943184..49945945-chr12:49954748..49957080,2	K562	blood:

Variant related genes	Relation type
ENSG00000123352	Chromatin interaction
ENSG00000135519	Chromatin interaction
ENSG00000187778	Chromatin interaction

Extended variants
information (count: 136 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:133)

rs_ID	r²[population]
rs10219602	1.00[CHB][hapmap]
rs1049986	0.81[ASN][1000 genomes]
rs1078216	1.00[CHB][hapmap]
rs10875964	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10875968	0.81[ASN][1000 genomes]
rs11169063	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs11169065	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169069	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169070	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169073	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169076	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169080	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11169081	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169082	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169092	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169097	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169101	1.00[JPT][hapmap]
rs11169104	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs11169106	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11169109	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11169111	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11169112	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11169113	0.80[EUR][1000 genomes]
rs11169118	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11169125	0.82[CEU][hapmap]
rs11169127	0.82[CEU][hapmap]
rs11169128	1.00[CHB][hapmap]
rs11169130	1.00[CHB][hapmap]
rs11169133	0.83[ASN][1000 genomes]
rs11169140	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs1150057	1.00[JPT][hapmap]
rs11833411	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11834380	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12296586	0.83[ASN][1000 genomes]
rs12299505	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12299513	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12303310	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs12306114	1.00[CHB][hapmap]
rs12308256	0.81[ASN][1000 genomes]
rs12309940	0.83[EUR][1000 genomes]
rs12310510	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12311527	0.94[ASN][1000 genomes]
rs12311839	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12314795	0.83[ASN][1000 genomes]
rs12314878	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12315224	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12315732	1.00[CHB][hapmap]
rs12315791	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12316284	0.81[ASN][1000 genomes]
rs12317646	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12320556	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12321819	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13066	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13906	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1470906	0.83[ASN][1000 genomes]
rs1574326	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17123808	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1902329	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1902330	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2005195	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2241418	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2278069	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2278070	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2303305	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2336058	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2878532	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs35275181	1.00[CHB][hapmap]
rs3815832	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3887727	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs3887728	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4045193	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4073998	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs4133070	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs4563	0.83[ASN][1000 genomes]
rs4584654	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4993294	1.00[CHB][hapmap]
rs52824916	0.97[ASN][1000 genomes]
rs55853522	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57191490	0.80[ASN][1000 genomes]
rs57342147	0.83[ASN][1000 genomes]
rs57916875	0.97[ASN][1000 genomes]
rs58278271	0.91[ASN][1000 genomes]
rs59233136	0.81[ASN][1000 genomes]
rs59940006	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60121503	0.80[ASN][1000 genomes]
rs60402517	0.83[EUR][1000 genomes]
rs61512987	0.84[ASN][1000 genomes]
rs61620972	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61710637	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6580719	0.83[ASN][1000 genomes]
rs7131915	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7132792	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7136052	0.83[ASN][1000 genomes]
rs7136772	1.00[CHB][hapmap]
rs7137976	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7296281	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7299002	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7299609	1.00[JPT][hapmap]
rs7301209	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7309607	0.81[ASN][1000 genomes]
rs7312658	0.81[ASN][1000 genomes]
rs7313738	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73305008	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73305012	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73305085	0.81[ASN][1000 genomes]
rs73305098	0.83[ASN][1000 genomes]
rs73306808	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs74089182	0.80[ASN][1000 genomes]
rs7688	0.81[ASN][1000 genomes]
rs7952734	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs7952938	0.86[ASN][1000 genomes]
rs7953911	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7954994	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs7955586	0.81[ASN][1000 genomes]
rs7956089	0.83[ASN][1000 genomes]
rs7956181	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs7962645	0.83[ASN][1000 genomes]
rs7962863	1.00[JPT][hapmap]
rs7963954	1.00[JPT][hapmap]
rs7965658	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7967624	0.81[ASN][1000 genomes]
rs7970241	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7973389	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7975599	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7977389	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7979262	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7979285	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7980979	0.83[ASN][1000 genomes]
rs8626	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs876889	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs897056	0.81[ASN][1000 genomes]
rs933738	0.94[ASN][1000 genomes]
rs9804749	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832406	chr12:49860693-50062136	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv482795	chr12:49897633-50068686	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv899071	chr12:49927148-49955935	Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr12:49942600-49946600	Enhancers	Pancreas	Pancrea
2	chr12:49943000-49945600	Weak transcription	HMEC	breast
3	chr12:49943000-49950400	Weak transcription	GM12878-XiMat	blood
4	chr12:49943200-49945800	Weak transcription	Psoas Muscle	Psoas
5	chr12:49943200-49947200	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr12:49943200-49951000	Weak transcription	Aorta	Aorta
7	chr12:49943200-49959600	Weak transcription	Right Atrium	heart
8	chr12:49943400-49944600	Enhancers	Brain Angular Gyrus	brain
9	chr12:49943400-49944600	Enhancers	Brain Substantia Nigra	brain
10	chr12:49943400-49945000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:49943400-49945400	Weak transcription	Left Ventricle	heart
12	chr12:49943400-49949400	Weak transcription	Gastric	stomach
13	chr12:49943400-49949400	Weak transcription	Spleen	Spleen
14	chr12:49943400-49950000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr12:49943400-49950200	Weak transcription	Primary B cells from cord blood	blood
16	chr12:49943400-49952600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr12:49943600-49944600	Enhancers	Brain Cingulate Gyrus	brain
18	chr12:49943600-49944800	Enhancers	Brain Hippocampus Middle	brain
19	chr12:49943600-49944800	Enhancers	Duodenum Mucosa	Duodenum
20	chr12:49943600-49944800	Weak transcription	Right Ventricle	heart
21	chr12:49943600-49945400	Weak transcription	Esophagus	oesophagus
22	chr12:49943600-49945600	Weak transcription	Brain Anterior Caudate	brain
23	chr12:49943600-49945600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr12:49943600-49945600	Weak transcription	Fetal Heart	heart
25	chr12:49943600-49945600	Enhancers	Fetal Intestine Small	intestine
26	chr12:49943600-49946000	Weak transcription	Primary hematopoietic stem cells	blood
27	chr12:49943600-49946200	Enhancers	Fetal Intestine Large	intestine
28	chr12:49943600-49946400	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr12:49943600-49947600	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr12:49943600-49949800	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr12:49943600-49949800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr12:49943600-49949800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr12:49943600-49949800	Weak transcription	Fetal Lung	lung
34	chr12:49943600-49950000	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr12:49943600-49950000	Weak transcription	Ovary	ovary
36	chr12:49943600-49950200	Weak transcription	Primary B cells from peripheral blood	blood
37	chr12:49943600-49950200	Weak transcription	Colon Smooth Muscle	Colon
38	chr12:49943600-49950400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr12:49943800-49945800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr12:49943800-49946000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr12:49944000-49944800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr12:49944200-49944600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
43	chr12:49944200-49944800	Enhancers	Fetal Kidney	kidney
44	chr12:49944200-49945200	Flanking Active TSS	HepG2	liver
45	chr12:49944200-49945400	Weak transcription	Fetal Brain Male	brain
46	chr12:49944200-49952200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr12:49944400-49944800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr12:49944400-49944800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr12:49944400-49945200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr12:49944400-49945600	Weak transcription	Fetal Brain Female	brain

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