Variant report

Variant	rs12205312
Chromosome Location	chr6:45310265-45310266
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	chr6:45301898..45307330-chr6:45307475..45313805,9	K562	blood:
2	chr6:45302590..45306713-chr6:45309297..45313421,5	K562	blood:

Extended variants
information (count: 138 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:135)

rs_ID	r²[population]
rs10456552	0.94[ASN][1000 genomes]
rs1080415	0.85[ASN][1000 genomes]
rs10807318	0.81[ASN][1000 genomes]
rs10807319	0.85[ASN][1000 genomes]
rs10807320	0.86[ASN][1000 genomes]
rs10948222	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10948225	0.82[ASN][1000 genomes]
rs10948227	0.82[ASN][1000 genomes]
rs10948228	0.82[ASN][1000 genomes]
rs10948229	0.96[ASN][1000 genomes]
rs10948230	0.81[ASN][1000 genomes]
rs12194311	0.93[ASN][1000 genomes]
rs12199720	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12205274	0.89[ASN][1000 genomes]
rs12208924	0.94[ASN][1000 genomes]
rs12524270	0.82[ASN][1000 genomes]
rs12524323	0.95[ASN][1000 genomes]
rs12525603	0.82[ASN][1000 genomes]
rs12526462	0.81[ASN][1000 genomes]
rs12526484	0.82[ASN][1000 genomes]
rs12527586	0.82[ASN][1000 genomes]
rs12529295	0.82[ASN][1000 genomes]
rs12529946	0.89[ASN][1000 genomes]
rs12662664	0.82[ASN][1000 genomes]
rs12662685	0.82[ASN][1000 genomes]
rs12663469	0.81[ASN][1000 genomes]
rs1284961	0.80[ASN][1000 genomes]
rs1284965	0.82[ASN][1000 genomes]
rs1285019	0.80[ASN][1000 genomes]
rs1290386	0.80[ASN][1000 genomes]
rs1304168	0.83[ASN][1000 genomes]
rs1321081	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1324540	0.84[ASN][1000 genomes]
rs1406848	0.81[ASN][1000 genomes]
rs1581777	0.85[ASN][1000 genomes]
rs16873345	0.81[ASN][1000 genomes]
rs16873348	0.81[ASN][1000 genomes]
rs16873364	0.81[ASN][1000 genomes]
rs16873366	0.81[ASN][1000 genomes]
rs16873373	0.81[ASN][1000 genomes]
rs16873379	0.81[ASN][1000 genomes]
rs17288278	0.96[ASN][1000 genomes]
rs1852985	0.81[ASN][1000 genomes]
rs1852986	0.93[ASN][1000 genomes]
rs2024786	0.81[ASN][1000 genomes]
rs2024787	0.82[ASN][1000 genomes]
rs2093901	0.82[ASN][1000 genomes]
rs2093903	0.82[ASN][1000 genomes]
rs2295295	0.81[ASN][1000 genomes]
rs2295296	0.81[ASN][1000 genomes]
rs2396425	0.82[ASN][1000 genomes]
rs2396502	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2396504	0.94[ASN][1000 genomes]
rs28360524	0.82[ASN][1000 genomes]
rs34677014	0.82[ASN][1000 genomes]
rs3749863	0.92[EUR][1000 genomes]
rs3763190	0.81[ASN][1000 genomes]
rs3923353	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4072928	0.96[ASN][1000 genomes]
rs4236086	0.82[ASN][1000 genomes]
rs4312985	0.82[ASN][1000 genomes]
rs4341001	0.82[ASN][1000 genomes]
rs4352679	0.86[ASN][1000 genomes]
rs4373351	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4401652	0.82[ASN][1000 genomes]
rs4446571	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4506035	0.83[EUR][1000 genomes]
rs4510673	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4590263	0.82[ASN][1000 genomes]
rs4631280	0.81[EUR][1000 genomes]
rs4711813	0.82[ASN][1000 genomes]
rs4711814	0.81[ASN][1000 genomes]
rs4714845	0.83[ASN][1000 genomes]
rs4714847	0.85[ASN][1000 genomes]
rs4714848	0.85[ASN][1000 genomes]
rs4714850	0.82[ASN][1000 genomes]
rs4714853	0.82[ASN][1000 genomes]
rs56243649	0.82[ASN][1000 genomes]
rs59983488	0.81[ASN][1000 genomes]
rs60346641	0.82[ASN][1000 genomes]
rs60826731	0.82[ASN][1000 genomes]
rs6458425	0.80[ASN][1000 genomes]
rs6458427	0.82[ASN][1000 genomes]
rs6458428	0.82[ASN][1000 genomes]
rs6458430	0.82[ASN][1000 genomes]
rs6458440	0.82[ASN][1000 genomes]
rs6458441	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6901786	0.82[ASN][1000 genomes]
rs6905396	0.80[ASN][1000 genomes]
rs6926638	0.81[ASN][1000 genomes]
rs6928753	0.94[ASN][1000 genomes]
rs6932804	0.94[ASN][1000 genomes]
rs6932926	0.81[ASN][1000 genomes]
rs6933449	0.94[ASN][1000 genomes]
rs6934594	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6935398	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6937317	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6938177	0.96[ASN][1000 genomes]
rs6938316	0.81[ASN][1000 genomes]
rs73735354	0.82[ASN][1000 genomes]
rs73735357	0.82[ASN][1000 genomes]
rs73735369	0.82[ASN][1000 genomes]
rs73735378	0.82[ASN][1000 genomes]
rs7451423	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7738526	0.80[ASN][1000 genomes]
rs7740083	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7757282	0.92[ASN][1000 genomes]
rs7760112	0.82[ASN][1000 genomes]
rs7767025	0.88[ASN][1000 genomes]
rs7769231	0.96[ASN][1000 genomes]
rs7770401	0.91[EUR][1000 genomes]
rs927658	0.80[ASN][1000 genomes]
rs9296453	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9296455	0.86[ASN][1000 genomes]
rs9296457	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9296458	0.96[ASN][1000 genomes]
rs9349315	0.80[ASN][1000 genomes]
rs9357478	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs9357480	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9357484	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9369552	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9369558	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9381373	0.82[ASN][1000 genomes]
rs9381383	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9395084	0.81[EUR][1000 genomes]
rs9395086	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9395087	0.81[EUR][1000 genomes]
rs9395088	0.86[ASN][1000 genomes]
rs9395095	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9463081	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9463083	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9472451	0.85[ASN][1000 genomes]
rs9472460	0.84[EUR][1000 genomes]
rs967588	0.82[ASN][1000 genomes]
rs988147	0.80[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	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	nsv830652	chr6:45187467-45328983	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12205312	SUPT3H	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45296200-45322800	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr6:45298400-45320800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:45299200-45333200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr6:45299400-45343800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr6:45301600-45329600	Weak transcription	Dnd41	blood
6	chr6:45304000-45324400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr6:45304200-45317000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr6:45305000-45334000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:45305400-45310600	Weak transcription	Osteobl	bone
10	chr6:45305400-45339800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr6:45309800-45313800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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