Variant report

Variant	rs34320768
Chromosome Location	chr10:96191080-96191081
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11187949	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11591693	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11595478	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11598738	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12569637	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12571659	0.87[EUR][1000 genomes]
rs12766721	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12769392	0.88[EUR][1000 genomes]
rs12770064	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12777300	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12785198	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2031322	0.88[EUR][1000 genomes]
rs2151952	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2151953	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34402112	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34560326	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35602247	0.89[EUR][1000 genomes]
rs61427801	0.83[AMR][1000 genomes]
rs7082105	0.90[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	nsv831946	chr10:96055190-96226438	Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	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
4	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34320768	CYP2C19	cis	Esophagus Mucosa	GTEx

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:96171800-96198200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr10:96183000-96191600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr10:96184600-96191800	Weak transcription	HSMMtube	muscle
4	chr10:96184800-96199200	Weak transcription	Gastric	stomach
5	chr10:96188400-96194800	Weak transcription	Brain Anterior Caudate	brain
6	chr10:96188400-96213600	Weak transcription	Stomach Mucosa	stomach
7	chr10:96188600-96194600	Weak transcription	Brain Angular Gyrus	brain
8	chr10:96188800-96191400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr10:96188800-96194400	Weak transcription	Left Ventricle	heart
10	chr10:96189600-96193800	Weak transcription	Brain Hippocampus Middle	brain
11	chr10:96189800-96192200	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr10:96190000-96191400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr10:96190000-96191400	Weak transcription	Fetal Muscle Leg	muscle
14	chr10:96190000-96191400	Weak transcription	Psoas Muscle	Psoas
15	chr10:96190000-96191600	Weak transcription	HSMM	muscle
16	chr10:96190000-96198200	Weak transcription	Pancreas	Pancrea
17	chr10:96190400-96191600	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr10:96190400-96194600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr10:96190400-96194600	Weak transcription	Brain Substantia Nigra	brain
20	chr10:96190800-96191600	Enhancers	Right Atrium	heart
21	chr10:96190800-96195400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr10:96190800-96234600	Weak transcription	Osteobl	bone
23	chr10:96191000-96191800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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