Variant report

Variant	rs2083716
Chromosome Location	chr11:10253786-10253787
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	chr11:10253231..10255912-chr11:10256898..10258938,2	K562	blood:

Extended variants
information (count: 82 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10500724	0.88[EUR][1000 genomes]
rs10743131	0.93[EUR][1000 genomes]
rs10743133	0.90[EUR][1000 genomes]
rs10770085	0.82[EUR][1000 genomes]
rs10770096	0.87[EUR][1000 genomes]
rs10770104	0.96[EUR][1000 genomes]
rs10840380	0.91[EUR][1000 genomes]
rs10840381	0.89[EUR][1000 genomes]
rs10840382	0.90[EUR][1000 genomes]
rs10840385	0.85[EUR][1000 genomes]
rs11042687	0.92[EUR][1000 genomes]
rs11042702	0.92[EUR][1000 genomes]
rs11042703	0.92[EUR][1000 genomes]
rs11042712	0.80[EUR][1000 genomes]
rs11042714	0.88[EUR][1000 genomes]
rs11042716	0.89[EUR][1000 genomes]
rs11042719	0.88[EUR][1000 genomes]
rs11602090	0.87[EUR][1000 genomes]
rs11607174	0.88[EUR][1000 genomes]
rs12279861	0.93[EUR][1000 genomes]
rs12290748	0.93[EUR][1000 genomes]
rs12419593	0.92[EUR][1000 genomes]
rs1442738	0.97[EUR][1000 genomes]
rs2044143	0.92[EUR][1000 genomes]
rs2044144	0.92[EUR][1000 genomes]
rs2083715	0.97[EUR][1000 genomes]
rs2083717	0.82[EUR][1000 genomes]
rs34051776	0.89[EUR][1000 genomes]
rs34087225	0.87[EUR][1000 genomes]
rs34692066	0.87[EUR][1000 genomes]
rs34739790	0.87[EUR][1000 genomes]
rs35737881	0.90[EUR][1000 genomes]
rs36167833	0.89[EUR][1000 genomes]
rs36170347	0.87[EUR][1000 genomes]
rs4267063	0.82[EUR][1000 genomes]
rs4323860	0.80[EUR][1000 genomes]
rs4418806	0.82[EUR][1000 genomes]
rs4442543	0.89[EUR][1000 genomes]
rs4482025	0.87[EUR][1000 genomes]
rs4597056	0.91[EUR][1000 genomes]
rs4910097	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4910107	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4910108	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4910115	0.93[EUR][1000 genomes]
rs55933041	0.92[EUR][1000 genomes]
rs56063978	0.96[EUR][1000 genomes]
rs56776911	0.83[EUR][1000 genomes]
rs6484141	0.86[EUR][1000 genomes]
rs6484147	0.90[EUR][1000 genomes]
rs6484148	0.88[EUR][1000 genomes]
rs6484152	0.90[EUR][1000 genomes]
rs6484160	0.87[EUR][1000 genomes]
rs7102016	0.83[EUR][1000 genomes]
rs7106998	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7107040	0.87[EUR][1000 genomes]
rs7107290	0.90[EUR][1000 genomes]
rs7107399	0.88[EUR][1000 genomes]
rs7107951	0.87[EUR][1000 genomes]
rs7108358	0.88[EUR][1000 genomes]
rs7110652	0.88[EUR][1000 genomes]
rs7115944	0.97[EUR][1000 genomes]
rs7116147	0.92[EUR][1000 genomes]
rs7118500	0.90[EUR][1000 genomes]
rs7123728	0.81[EUR][1000 genomes]
rs716803	0.92[EUR][1000 genomes]
rs726102	0.92[EUR][1000 genomes]
rs7479039	0.88[EUR][1000 genomes]
rs7924499	0.86[EUR][1000 genomes]
rs7924631	0.82[EUR][1000 genomes]
rs7928170	0.87[EUR][1000 genomes]
rs7938543	0.91[EUR][1000 genomes]
rs7942420	0.83[EUR][1000 genomes]
rs7944706	0.81[EUR][1000 genomes]
rs7945930	0.89[EUR][1000 genomes]
rs7947588	0.84[EUR][1000 genomes]
rs7947666	0.89[EUR][1000 genomes]
rs7950140	0.84[EUR][1000 genomes]
rs7950461	0.88[EUR][1000 genomes]
rs7952105	0.88[EUR][1000 genomes]
rs9735682	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430319	chr11:10027543-10711224	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv1039636	chr11:10126747-10280570	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2083716	RP11-351I24.1	cis	Whole Blood	GTEx

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10231000-10254400	Weak transcription	NHDF-Ad	bronchial
2	chr11:10231000-10254400	Weak transcription	NHLF	lung
3	chr11:10235400-10263400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr11:10240600-10259800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr11:10241200-10255200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr11:10241800-10254800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr11:10247800-10254200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr11:10247800-10255200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr11:10247800-10259200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr11:10252000-10255200	Weak transcription	Osteobl	bone
11	chr11:10252200-10264200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr11:10252600-10254800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
13	chr11:10252600-10255000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr11:10252800-10254000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr11:10253000-10254800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
16	chr11:10253000-10268200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr11:10253200-10253800	Weak transcription	Left Ventricle	heart
18	chr11:10253200-10254200	ZNF genes & repeats	Fetal Stomach	stomach
19	chr11:10253200-10254400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr11:10253400-10254000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr11:10253400-10254000	Strong transcription	Ovary	ovary
22	chr11:10253400-10254400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr11:10253400-10254400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
24	chr11:10253400-10254400	ZNF genes & repeats	Fetal Intestine Small	intestine
25	chr11:10253400-10255000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr11:10253600-10254000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr11:10253600-10254000	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
28	chr11:10253600-10254600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr11:10253600-10254800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell

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