Variant report

Variant	rs2151953
Chromosome Location	chr10:96199232-96199233
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:96169823..96172016-chr10:96197395..96199700,2	MCF-7	breast:
2	chr10:96198485..96200699-chr10:96202037..96204075,2	MCF-7	breast:
3	chr10:96162530..96165019-chr10:96199067..96201077,2	MCF-7	breast:

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

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

rs_ID	r²[population]
rs11187949	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11591693	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11595478	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11598738	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12569637	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12571306	0.81[EUR][1000 genomes]
rs12571659	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12766721	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12769392	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12770064	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes]
rs12774901	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.80[EUR][1000 genomes]
rs12777300	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12785198	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2025445	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap]
rs2031322	0.95[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2151952	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34320768	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34402112	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34560326	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35029271	0.87[AMR][1000 genomes]
rs35602247	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35765566	0.87[AMR][1000 genomes]
rs61427801	0.92[AMR][1000 genomes]
rs7082105	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[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
rs2151953	CYP2C19	cis	Esophagus Mucosa	GTEx

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:96188400-96213600	Weak transcription	Stomach Mucosa	stomach
2	chr10:96190800-96234600	Weak transcription	Osteobl	bone
3	chr10:96192000-96211400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr10:96198200-96199400	Enhancers	Brain Substantia Nigra	brain
5	chr10:96198200-96199400	Enhancers	Pancreas	Pancrea
6	chr10:96198200-96199600	Enhancers	Left Ventricle	heart
7	chr10:96198400-96202800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr10:96198400-96218200	Weak transcription	Aorta	Aorta
9	chr10:96199000-96199400	Enhancers	Muscle Satellite Cultured Cells	--
10	chr10:96199000-96199400	Enhancers	Adipose Nuclei	Adipose
11	chr10:96199000-96199400	Enhancers	Brain Angular Gyrus	brain
12	chr10:96199000-96199400	Enhancers	Brain Cingulate Gyrus	brain
13	chr10:96199000-96199400	Enhancers	Brain Hippocampus Middle	brain
14	chr10:96199000-96199400	Enhancers	Stomach Smooth Muscle	stomach
15	chr10:96199000-96199400	Enhancers	HSMM	muscle
16	chr10:96199000-96199400	Enhancers	HUVEC	blood vessel
17	chr10:96199000-96199600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr10:96199000-96199600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr10:96199000-96199800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr10:96199200-96199400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr10:96199200-96199400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr10:96199200-96199400	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr10:96199200-96199400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr10:96199200-96199400	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr10:96199200-96199400	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr10:96199200-96199400	Enhancers	Fetal Lung	lung
27	chr10:96199200-96199400	Enhancers	Fetal Muscle Trunk	muscle
28	chr10:96199200-96199400	Enhancers	Placenta	Placenta
29	chr10:96199200-96199400	Enhancers	Gastric	stomach
30	chr10:96199200-96199400	Enhancers	Ovary	ovary
31	chr10:96199200-96199400	Enhancers	Psoas Muscle	Psoas
32	chr10:96199200-96199600	Enhancers	Lung	lung
33	chr10:96199200-96211200	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr10:96199200-96215400	Weak transcription	Fetal Stomach	stomach

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