Variant report

Variant	rs7082105
Chromosome Location	chr10:96244024-96244025
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1048196	0.80[EUR][1000 genomes]
rs11187949	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11591693	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11594492	0.80[EUR][1000 genomes]
rs11595478	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11598738	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12569637	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12571306	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12571659	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12766721	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12769392	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12770064	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12774901	0.84[EUR][1000 genomes]
rs12777300	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12785198	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2031322	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2151952	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2151953	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34320768	0.90[EUR][1000 genomes]
rs34402112	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34560326	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35134124	0.82[EUR][1000 genomes]
rs35602247	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35805353	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761616	chr10:95966768-96303701	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv497859	chr10:96058024-97027747	Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	esv1819509	chr10:96064300-96361776	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv1053747	chr10:96211618-96366396	Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7082105	CYP2C19	cis	Esophagus Mucosa	GTEx

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:96210200-96248800	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr10:96211600-96292200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr10:96212600-96248600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr10:96215600-96255200	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr10:96219800-96283400	Weak transcription	Lung	lung
6	chr10:96220000-96248800	Weak transcription	Colonic Mucosa	Colon
7	chr10:96221800-96255600	Weak transcription	Ovary	ovary
8	chr10:96222800-96255800	Weak transcription	HepG2	liver
9	chr10:96223200-96293600	Weak transcription	NHDF-Ad	bronchial
10	chr10:96227800-96255600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr10:96235000-96255200	Weak transcription	Osteobl	bone
12	chr10:96236000-96248600	Weak transcription	Left Ventricle	heart
13	chr10:96236000-96254400	Weak transcription	Rectal Smooth Muscle	rectum
14	chr10:96236400-96268600	Weak transcription	HSMMtube	muscle
15	chr10:96237400-96248800	Weak transcription	Brain Angular Gyrus	brain
16	chr10:96237600-96258800	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr10:96237600-96271400	Weak transcription	Placenta	Placenta
18	chr10:96238200-96258400	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr10:96238200-96273400	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr10:96240200-96271000	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr10:96241400-96250200	Weak transcription	Fetal Lung	lung
22	chr10:96243200-96248600	Weak transcription	Brain Substantia Nigra	brain
23	chr10:96243400-96249000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr10:96243600-96244200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
25	chr10:96243600-96245200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr10:96243800-96251600	Weak transcription	HSMM	muscle
27	chr10:96244000-96244400	ZNF genes & repeats	Aorta	Aorta
28	chr10:96244000-96244400	ZNF genes & repeats	Fetal Intestine Small	intestine
29	chr10:96244000-96244400	ZNF genes & repeats	Fetal Stomach	stomach
30	chr10:96244000-96244400	ZNF genes & repeats	Pancreas	Pancrea
31	chr10:96244000-96244600	Weak transcription	Liver	Liver
32	chr10:96244000-96253200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr10:96244000-96255800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr10:96244000-96262200	Weak transcription	Fetal Muscle Trunk	muscle
35	chr10:96244000-96282600	Weak transcription	Duodenum Mucosa	Duodenum

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