Variant report

Variant	rs2468340
Chromosome Location	chr12:105221974-105221975
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:105180077..105182540-chr12:105221823..105224422,2	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1002803	0.83[EUR][1000 genomes]
rs1038968	0.82[EUR][1000 genomes]
rs10746008	0.81[ASN][1000 genomes]
rs1155994	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1316594	0.89[EUR][1000 genomes]
rs1389609	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1389612	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1565813	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1565815	0.88[EUR][1000 genomes]
rs2047124	0.82[EUR][1000 genomes]
rs2141248	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2245927	0.89[EUR][1000 genomes]
rs2245931	0.89[EUR][1000 genomes]
rs2248012	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2453157	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2453158	0.89[EUR][1000 genomes]
rs2453160	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2453166	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2453167	0.89[EUR][1000 genomes]
rs2453168	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2463016	0.89[EUR][1000 genomes]
rs2463017	0.89[EUR][1000 genomes]
rs2463018	0.84[EUR][1000 genomes]
rs2463025	0.89[EUR][1000 genomes]
rs2463429	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2463431	0.82[EUR][1000 genomes]
rs2463432	0.88[EUR][1000 genomes]
rs2463433	0.89[EUR][1000 genomes]
rs2468083	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2468089	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2468090	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2468092	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2468099	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2468100	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2468105	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2565167	0.89[EUR][1000 genomes]
rs2642110	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2642116	0.89[EUR][1000 genomes]
rs2730291	0.82[EUR][1000 genomes]
rs2730295	0.83[EUR][1000 genomes]
rs2731030	0.83[EUR][1000 genomes]
rs4334113	0.84[ASN][1000 genomes]
rs4388976	0.85[ASN][1000 genomes]
rs4393404	0.84[ASN][1000 genomes]
rs6539167	0.82[EUR][1000 genomes]
rs6539170	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6539171	0.81[ASN][1000 genomes]
rs7135015	0.85[ASN][1000 genomes]
rs7847	0.84[EUR][1000 genomes]
rs7967503	0.86[ASN][1000 genomes]
rs7980681	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9669207	0.81[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	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv899497	chr12:105155291-105247010	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv899498	chr12:105173598-105461620	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2468340	CHST11	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105211000-105237600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr12:105219800-105223800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:105219800-105240800	Weak transcription	Gastric	stomach
4	chr12:105220000-105222000	Strong transcription	Duodenum Mucosa	Duodenum
5	chr12:105220000-105223000	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr12:105220200-105223600	Weak transcription	Stomach Mucosa	stomach
7	chr12:105220400-105222200	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr12:105220400-105229000	Strong transcription	Liver	Liver
9	chr12:105220400-105239600	Weak transcription	Aorta	Aorta
10	chr12:105220800-105260600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr12:105221000-105227000	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr12:105221400-105222200	Strong transcription	Fetal Stomach	stomach
13	chr12:105221600-105222000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr12:105221600-105222400	Enhancers	Left Ventricle	heart
15	chr12:105221800-105222200	ZNF genes & repeats	Pancreas	Pancrea

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