Variant report

Variant	rs1748237
Chromosome Location	chr6:45143200-45143201
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 135 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:127)

rs_ID	r²[population]
rs1023089	0.83[EUR][1000 genomes]
rs1080415	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10807318	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10807319	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10807320	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10948198	0.83[EUR][1000 genomes]
rs10948222	0.81[ASN][1000 genomes]
rs11968042	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12190261	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12204678	0.84[ASN][1000 genomes]
rs12205071	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12205274	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12208023	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12208483	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12529490	0.81[AMR][1000 genomes]
rs12529946	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1284961	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1284965	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1284969	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1284972	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1284973	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1284975	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1284980	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1284982	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1284983	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1284988	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1284992	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1285004	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1285013	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1285014	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1285019	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1285022	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1285023	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1285026	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1290386	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1300126	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1304168	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13207575	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1324530	0.82[ASN][1000 genomes]
rs1324531	0.94[ASN][1000 genomes]
rs1324532	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1324537	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1324540	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1329714	0.82[EUR][1000 genomes]
rs1359336	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1411148	0.82[AMR][1000 genomes]
rs1581777	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1629542	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1748231	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1748233	0.81[ASN][1000 genomes]
rs1748234	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1748235	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1748236	0.81[ASN][1000 genomes]
rs1748238	0.82[ASN][1000 genomes]
rs1748240	0.81[ASN][1000 genomes]
rs1748242	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1797145	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1797147	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1886345	0.82[ASN][1000 genomes]
rs1937046	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1937047	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2093901	0.88[ASN][1000 genomes]
rs2093903	0.88[ASN][1000 genomes]
rs2186062	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2396425	0.88[ASN][1000 genomes]
rs3920903	0.82[AMR][1000 genomes]
rs4352679	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4412189	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4714836	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4714845	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4714847	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4714848	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56138724	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6458418	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6458419	0.81[ASN][1000 genomes]
rs6458420	0.83[ASN][1000 genomes]
rs6458423	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6458425	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6458427	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6458428	0.88[ASN][1000 genomes]
rs6458430	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6899378	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6901786	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6905396	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6910974	0.82[AMR][1000 genomes]
rs6923436	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6936475	0.81[ASN][1000 genomes]
rs6937317	0.85[ASN][1000 genomes]
rs6938316	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6941169	0.87[ASN][1000 genomes]
rs7451423	0.81[ASN][1000 genomes]
rs7738526	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7739928	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs7740542	0.82[ASN][1000 genomes]
rs7743116	0.93[ASN][1000 genomes]
rs7750380	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7758031	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7763450	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7764102	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs927658	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9296453	0.85[ASN][1000 genomes]
rs9296455	0.83[ASN][1000 genomes]
rs9349313	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs9349315	0.90[ASN][1000 genomes]
rs9357470	0.81[ASN][1000 genomes]
rs9357478	0.87[ASN][1000 genomes]
rs9357480	0.85[ASN][1000 genomes]
rs9367214	0.84[AFR][1000 genomes]
rs9369529	0.82[EUR][1000 genomes]
rs9369530	0.84[AFR][1000 genomes]
rs9369534	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs9369551	0.83[EUR][1000 genomes]
rs9381364	0.83[ASN][1000 genomes]
rs9381365	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9381366	0.83[ASN][1000 genomes]
rs9381373	0.88[ASN][1000 genomes]
rs9395065	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9395066	0.81[ASN][1000 genomes]
rs9395079	0.94[ASN][1000 genomes]
rs9395086	0.85[ASN][1000 genomes]
rs9395088	0.83[ASN][1000 genomes]
rs9463076	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9463081	0.85[ASN][1000 genomes]
rs9472451	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs964452	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs969211	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs988147	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
8	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
rs1748237	SUPT3H	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45133000-45143200	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr6:45141400-45143400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
3	chr6:45141400-45143400	Enhancers	Dnd41	blood
4	chr6:45142000-45144400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr6:45142200-45143200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr6:45142200-45143400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr6:45143000-45143200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr6:45143000-45143200	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr6:45143000-45143200	Enhancers	Pancreas	Pancrea
10	chr6:45143200-45143600	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr6:45143200-45143600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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