Variant report

Variant	rs1300126
Chromosome Location	chr6:45084861-45084862
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:45083331..45086142-chr6:45155794..45158780,2	K562	blood:

Extended variants
information (count: 191 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1023089	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1023090	0.82[ASN][1000 genomes]
rs1041332	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1080415	0.86[ASN][1000 genomes]
rs10807318	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10807319	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10807320	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10948198	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10948222	0.82[ASN][1000 genomes]
rs11968042	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12190261	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12204678	0.96[ASN][1000 genomes]
rs12205071	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12205274	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12208023	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12208339	0.81[EUR][1000 genomes]
rs12208483	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12529490	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12529946	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12530207	0.86[ASN][1000 genomes]
rs12662272	0.85[ASN][1000 genomes]
rs1284955	0.81[ASN][1000 genomes]
rs1284961	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1284962	0.80[ASN][1000 genomes]
rs1284964	0.80[ASN][1000 genomes]
rs1284965	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1284967	0.80[ASN][1000 genomes]
rs1284969	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1284972	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1284973	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1284975	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1284979	0.86[ASN][1000 genomes]
rs1284980	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1284982	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1284983	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1284988	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1284989	0.83[ASN][1000 genomes]
rs1284992	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1284993	0.85[ASN][1000 genomes]
rs1284995	0.86[ASN][1000 genomes]
rs1284999	0.86[ASN][1000 genomes]
rs1285003	0.86[ASN][1000 genomes]
rs1285004	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1285005	0.85[ASN][1000 genomes]
rs1285006	0.85[ASN][1000 genomes]
rs1285007	0.86[ASN][1000 genomes]
rs1285008	0.85[ASN][1000 genomes]
rs1285009	0.85[ASN][1000 genomes]
rs1285010	0.85[ASN][1000 genomes]
rs1285011	0.85[ASN][1000 genomes]
rs1285013	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1285014	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1285019	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1285020	0.84[ASN][1000 genomes]
rs1285021	0.85[ASN][1000 genomes]
rs1285022	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1285023	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1285025	0.83[ASN][1000 genomes]
rs1285026	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1285027	0.86[ASN][1000 genomes]
rs1285028	0.85[ASN][1000 genomes]
rs1285029	0.85[ASN][1000 genomes]
rs1285030	0.85[ASN][1000 genomes]
rs1285031	0.84[ASN][1000 genomes]
rs1290386	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1304168	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13202529	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13207575	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1324531	0.86[ASN][1000 genomes]
rs1324532	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1324535	0.85[ASN][1000 genomes]
rs1324537	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1324540	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1329714	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1359336	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1411148	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1581777	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1629542	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16873257	0.80[ASN][1000 genomes]
rs1748231	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1748234	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1748235	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1748237	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1748242	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1797145	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1797147	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1797148	0.85[ASN][1000 genomes]
rs1797149	0.85[ASN][1000 genomes]
rs1797156	0.85[ASN][1000 genomes]
rs1886345	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1937046	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1937047	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1971482	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2038766	0.87[ASN][1000 genomes]
rs2093901	0.89[ASN][1000 genomes]
rs2093903	0.89[ASN][1000 genomes]
rs2186062	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2396375	0.81[AMR][1000 genomes]
rs2396380	0.89[ASN][1000 genomes]
rs2396381	0.85[ASN][1000 genomes]
rs2396425	0.89[ASN][1000 genomes]
rs2815263	0.80[ASN][1000 genomes]
rs35817842	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3920903	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4352679	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4398713	0.84[AMR][1000 genomes]
rs4412189	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4446571	0.80[ASN][1000 genomes]
rs4714836	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4714842	0.80[ASN][1000 genomes]
rs4714845	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4714847	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4714848	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56138724	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6458418	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6458419	1.00[ASN][1000 genomes]
rs6458420	0.98[ASN][1000 genomes]
rs6458423	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6458425	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6458427	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6458428	0.89[ASN][1000 genomes]
rs6458430	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6899378	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6899845	0.89[ASN][1000 genomes]
rs6901786	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6905396	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6910974	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6917594	0.85[ASN][1000 genomes]
rs6923436	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6925467	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6933553	0.84[ASN][1000 genomes]
rs6937317	0.86[ASN][1000 genomes]
rs6938316	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6938592	0.82[ASN][1000 genomes]
rs6941169	0.89[ASN][1000 genomes]
rs73449282	0.85[ASN][1000 genomes]
rs7451423	0.82[ASN][1000 genomes]
rs7738526	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7739928	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7743116	0.85[ASN][1000 genomes]
rs7750380	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7758031	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7763450	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7763973	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7764102	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7767025	0.80[ASN][1000 genomes]
rs927658	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9296453	0.86[ASN][1000 genomes]
rs9296455	0.85[ASN][1000 genomes]
rs9349309	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9349313	0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs9349315	0.91[ASN][1000 genomes]
rs9357469	0.88[ASN][1000 genomes]
rs9357470	0.96[ASN][1000 genomes]
rs9357478	0.88[ASN][1000 genomes]
rs9357480	0.86[ASN][1000 genomes]
rs9367214	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9369529	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9369530	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs9369533	0.89[ASN][1000 genomes]
rs9369534	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9381361	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9381364	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9381365	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9381366	0.98[ASN][1000 genomes]
rs9381373	0.89[ASN][1000 genomes]
rs9395063	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9395065	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9395066	0.99[ASN][1000 genomes]
rs9395079	0.86[ASN][1000 genomes]
rs9395086	0.86[ASN][1000 genomes]
rs9395088	0.85[ASN][1000 genomes]
rs9463069	0.84[ASN][1000 genomes]
rs9463076	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs9463081	0.86[ASN][1000 genomes]
rs9472442	0.85[ASN][1000 genomes]
rs9472451	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs964452	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs969211	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs988147	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028393	chr6:44875558-45822335	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv538211	chr6:44875558-45822335	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1024370	chr6:44878053-45251451	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	nsv885864	chr6:44890760-45198796	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1023018	chr6:44925393-45152912	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv538212	chr6:44925393-45152912	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1026728	chr6:45001948-45126730	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv538213	chr6:45001948-45126730	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv885865	chr6:45012223-45102025	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv492309	chr6:45020402-45233484	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
11	nsv1032906	chr6:45069368-45212863	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1300126	SUPT3H	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45082400-45085600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr6:45082800-45085200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr6:45082800-45085800	Enhancers	Dnd41	blood
4	chr6:45083200-45085400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr6:45083200-45086200	Enhancers	Fetal Heart	heart
6	chr6:45083400-45085200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr6:45083400-45085200	Enhancers	HMEC	breast
8	chr6:45083400-45085400	Enhancers	NHDF-Ad	bronchial
9	chr6:45083400-45086800	Enhancers	HSMM	muscle
10	chr6:45083600-45085000	Enhancers	NHLF	lung
11	chr6:45083800-45085200	Enhancers	Osteobl	bone
12	chr6:45084000-45085000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr6:45084000-45085000	Enhancers	NH-A	brain
14	chr6:45084000-45085200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr6:45084000-45085200	Enhancers	Primary T cells from cord blood	blood
16	chr6:45084200-45085000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr6:45084200-45085000	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr6:45084200-45085000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr6:45084200-45085000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr6:45084200-45085000	Enhancers	NHEK	skin
21	chr6:45084400-45085000	Enhancers	HUVEC	blood vessel
22	chr6:45084600-45085000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr6:45084600-45086200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr6:45084800-45085000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr6:45084800-45085200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr6:45084800-45085600	Enhancers	Muscle Satellite Cultured Cells	--

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