Variant report

Variant	rs2468100
Chromosome Location	chr12:105213204-105213205
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	chr12:105212787..105215531-chr12:105216343..105219007,2	K562	blood:

Extended variants
information (count: 65 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs1002803	0.87[EUR][1000 genomes]
rs1038968	0.86[EUR][1000 genomes]
rs10746008	0.81[ASN][1000 genomes]
rs1155994	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1316594	0.93[EUR][1000 genomes]
rs1389609	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1389612	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1474459	0.81[EUR][1000 genomes]
rs1565813	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1565815	0.93[EUR][1000 genomes]
rs2047124	0.86[EUR][1000 genomes]
rs2141248	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2245927	0.93[EUR][1000 genomes]
rs2245931	0.93[EUR][1000 genomes]
rs2248012	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2453156	0.82[EUR][1000 genomes]
rs2453157	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2453158	0.93[EUR][1000 genomes]
rs2453160	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2453161	0.83[EUR][1000 genomes]
rs2453166	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2453167	0.93[EUR][1000 genomes]
rs2453168	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2463016	0.93[EUR][1000 genomes]
rs2463017	0.93[EUR][1000 genomes]
rs2463018	0.88[EUR][1000 genomes]
rs2463025	0.93[EUR][1000 genomes]
rs2463429	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2463431	0.86[EUR][1000 genomes]
rs2463432	0.93[EUR][1000 genomes]
rs2463433	0.93[EUR][1000 genomes]
rs2463437	0.82[EUR][1000 genomes]
rs2463438	0.81[EUR][1000 genomes]
rs2463439	0.81[EUR][1000 genomes]
rs2463440	0.83[EUR][1000 genomes]
rs2468083	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2468089	0.95[EUR][1000 genomes]
rs2468090	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2468092	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2468099	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2468105	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2468109	0.82[EUR][1000 genomes]
rs2468112	0.81[EUR][1000 genomes]
rs2468340	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2565167	0.93[EUR][1000 genomes]
rs2642110	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2642116	0.93[EUR][1000 genomes]
rs2730291	0.86[EUR][1000 genomes]
rs2730295	0.87[EUR][1000 genomes]
rs2731030	0.87[EUR][1000 genomes]
rs4334113	0.84[ASN][1000 genomes]
rs4388976	0.85[ASN][1000 genomes]
rs4393404	0.84[ASN][1000 genomes]
rs6539167	0.86[EUR][1000 genomes]
rs6539170	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6539171	0.81[ASN][1000 genomes]
rs703681	0.81[EUR][1000 genomes]
rs7135015	0.85[ASN][1000 genomes]
rs7847	0.88[EUR][1000 genomes]
rs7967503	0.86[ASN][1000 genomes]
rs7980681	0.95[AMR][1000 genomes];0.97[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
rs2468100	CHST11	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105187400-105213600	Weak transcription	Pancreas	Pancrea
2	chr12:105189800-105213400	Weak transcription	Aorta	Aorta
3	chr12:105197600-105218400	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr12:105199800-105218800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr12:105201200-105218200	Weak transcription	Gastric	stomach
6	chr12:105201400-105220600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr12:105205000-105213600	Weak transcription	Brain Angular Gyrus	brain
8	chr12:105205000-105218400	Weak transcription	Fetal Stomach	stomach
9	chr12:105205400-105217800	Weak transcription	Esophagus	oesophagus
10	chr12:105206600-105217800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr12:105208800-105214600	Strong transcription	Liver	Liver
12	chr12:105210600-105213600	Weak transcription	Psoas Muscle	Psoas
13	chr12:105211000-105219200	Weak transcription	Stomach Smooth Muscle	stomach
14	chr12:105211000-105237600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr12:105211800-105218200	Weak transcription	Duodenum Mucosa	Duodenum
16	chr12:105213000-105216400	Weak transcription	Hela-S3	cervix
17	chr12:105213200-105213600	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr12:105213200-105214400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain

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