Variant report

Variant	rs12055264
Chromosome Location	chr5:94913643-94913644
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:94910804..94914424-chr5:94915690..94919110,3	K562	blood:
2	chr5:94907342..94909603-chr5:94913208..94915224,2	K562	blood:

Extended variants
information (count: 143 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:140)

rs_ID	r²[population]
rs10036119	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10036691	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10040367	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10045714	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10054246	0.81[CEU][hapmap]
rs10055673	0.91[JPT][hapmap];0.94[ASN][1000 genomes]
rs10056208	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10056278	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10057391	0.94[ASN][1000 genomes]
rs10057420	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10063417	0.91[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10064546	0.89[JPT][hapmap]
rs10070711	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10075022	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10077070	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10223061	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10223134	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10223147	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10476648	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10476649	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10476652	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10476653	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10476654	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10491246	1.00[CEU][hapmap];0.90[JPT][hapmap];0.87[YRI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10515228	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1062073	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1062075	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1062077	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1062083	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10866765	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11135426	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11135429	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1139111	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1139114	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11948407	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11948489	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11949044	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11950190	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11953160	1.00[JPT][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11953633	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11958720	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11959401	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12054689	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12054916	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12189111	1.00[CEU][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13355280	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs17084769	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17084779	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17084816	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17084817	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17084839	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17084852	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17084867	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17084873	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17084904	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs17084909	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs17084910	0.81[CEU][hapmap]
rs17084924	0.81[CEU][hapmap]
rs17084927	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1833894	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2042871	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2278224	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2303649	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2303650	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28376538	0.94[ASN][1000 genomes]
rs28491117	0.88[ASN][1000 genomes]
rs2881773	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs3776875	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3776876	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3822616	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3822617	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs3822618	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3849752	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3849753	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3849754	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3849755	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3931769	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55679859	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58373522	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58405178	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60954465	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62365862	0.81[ASN][1000 genomes]
rs6556874	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.81[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs6556876	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6859731	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6866194	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6878974	0.91[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6880676	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs6881618	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6891486	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6897586	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73141954	0.88[ASN][1000 genomes]
rs73143969	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73143972	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73143974	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73145973	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73145974	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73145991	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73777201	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73777219	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73777221	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73778853	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7703285	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7703948	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7705862	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7706027	0.90[EUR][1000 genomes]
rs7706837	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7707851	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7707854	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7709709	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7709828	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7710228	0.86[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs7715350	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7722225	0.86[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs7722969	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7723951	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7724147	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7724683	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7724730	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7725190	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7725219	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7725419	0.86[ASN][1000 genomes]
rs7727453	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7727455	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7727608	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7733476	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7737266	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs890739	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9285017	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9314142	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9314143	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9314144	0.94[ASN][1000 genomes]
rs9314145	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9314146	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9314147	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs972390	0.81[CEU][hapmap]
rs9885158	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs9885192	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9885291	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9885310	0.89[EUR][1000 genomes];0.95[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	nsv882388	chr5:94764006-94925849	Weak transcription Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv830408	chr5:94894032-94915995	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv598955	chr5:94903453-95136019	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12055264	TTC37	cis	Whole Blood	GTEx

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:94892200-94934400	Weak transcription	Fetal Stomach	stomach
2	chr5:94892200-94936600	Weak transcription	Fetal Lung	lung
3	chr5:94892400-94921000	Weak transcription	Psoas Muscle	Psoas
4	chr5:94892400-94922400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr5:94892400-94926000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr5:94892400-94926200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr5:94892400-94926200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr5:94892400-94926200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr5:94892400-94926600	Weak transcription	NH-A	brain
10	chr5:94892400-94937200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr5:94894000-94919000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr5:94898200-94926000	Weak transcription	Thymus	Thymus
13	chr5:94900400-94942400	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr5:94900600-94919600	Weak transcription	K562	blood
15	chr5:94900600-94921200	Weak transcription	Pancreas	Pancrea
16	chr5:94901000-94916400	Weak transcription	Fetal Brain Male	brain
17	chr5:94901600-94926400	Weak transcription	HUVEC	blood vessel
18	chr5:94902000-94925800	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr5:94902000-94936600	Weak transcription	HSMMtube	muscle
20	chr5:94903600-94925800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr5:94904000-94926800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr5:94904200-94919600	Weak transcription	Fetal Heart	heart
23	chr5:94904600-94926200	Weak transcription	GM12878-XiMat	blood
24	chr5:94904600-94936600	Weak transcription	Adipose Nuclei	Adipose
25	chr5:94904600-94939400	Weak transcription	Primary B cells from peripheral blood	blood
26	chr5:94904800-94926400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr5:94904800-94926600	Weak transcription	Left Ventricle	heart
28	chr5:94904800-94931600	Weak transcription	Liver	Liver
29	chr5:94905000-94925800	Weak transcription	Dnd41	blood
30	chr5:94905000-94926000	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr5:94905000-94936600	Weak transcription	Fetal Intestine Large	intestine
32	chr5:94905000-94936600	Weak transcription	Ovary	ovary
33	chr5:94905000-94936800	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr5:94905000-94936800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr5:94905000-94939200	Weak transcription	Aorta	Aorta
36	chr5:94905000-94940600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr5:94905200-94919600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr5:94905200-94926400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr5:94905400-94925800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr5:94905400-94926400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr5:94905600-94918600	Weak transcription	Primary hematopoietic stem cells	blood
42	chr5:94905600-94925800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr5:94906200-94919000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr5:94906200-94926000	Weak transcription	Fetal Thymus	thymus
45	chr5:94906400-94916600	Weak transcription	Primary B cells from cord blood	blood
46	chr5:94906400-94936800	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr5:94908200-94925800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr5:94908200-94926000	Weak transcription	Osteobl	bone
49	chr5:94908800-94926000	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr5:94909800-94935800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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