Variant report

Variant	rs11595478
Chromosome Location	chr10:96259026-96259027
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1048196	0.80[EUR][1000 genomes]
rs11187949	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11591693	0.86[EUR][1000 genomes]
rs11594492	0.80[EUR][1000 genomes]
rs11598738	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12569637	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12571306	0.85[EUR][1000 genomes]
rs12571659	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12766721	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12769392	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12770064	1.00[CEU][hapmap];0.88[CHB][hapmap];0.93[JPT][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12774901	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs12777300	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12785198	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2025445	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap]
rs2031322	0.93[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2151952	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2151953	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]
rs34320768	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34402112	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34560326	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35134124	0.82[EUR][1000 genomes]
rs35602247	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35805353	0.80[EUR][1000 genomes]
rs61427801	0.82[AMR][1000 genomes]
rs7082105	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][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
rs11595478	CYP2C19	cis	Esophagus Mucosa	GTEx

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:96211600-96292200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr10:96219800-96283400	Weak transcription	Lung	lung
3	chr10:96223200-96293600	Weak transcription	NHDF-Ad	bronchial
4	chr10:96236400-96268600	Weak transcription	HSMMtube	muscle
5	chr10:96237600-96271400	Weak transcription	Placenta	Placenta
6	chr10:96238200-96273400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr10:96240200-96271000	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr10:96244000-96262200	Weak transcription	Fetal Muscle Trunk	muscle
9	chr10:96244000-96282600	Weak transcription	Duodenum Mucosa	Duodenum
10	chr10:96244400-96283600	Weak transcription	Pancreas	Pancrea
11	chr10:96244400-96304600	Weak transcription	Aorta	Aorta
12	chr10:96245200-96267000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr10:96246800-96261400	Weak transcription	Fetal Intestine Large	intestine
14	chr10:96247400-96267400	Weak transcription	Fetal Muscle Leg	muscle
15	chr10:96248000-96273800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr10:96249000-96267800	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr10:96249200-96267400	Weak transcription	Left Ventricle	heart
18	chr10:96249200-96286200	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr10:96249400-96268600	Weak transcription	Colon Smooth Muscle	Colon
20	chr10:96249400-96288600	Weak transcription	Gastric	stomach
21	chr10:96249600-96267800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr10:96250400-96281000	Weak transcription	Brain Cingulate Gyrus	brain
23	chr10:96250600-96261000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr10:96250600-96271400	Weak transcription	Stomach Smooth Muscle	stomach
25	chr10:96250800-96268600	Weak transcription	Brain Hippocampus Middle	brain
26	chr10:96250800-96281000	Weak transcription	Brain Angular Gyrus	brain
27	chr10:96250800-96294000	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr10:96250800-96297400	Weak transcription	Small Intestine	intestine
29	chr10:96251000-96271600	Weak transcription	Brain Substantia Nigra	brain
30	chr10:96251200-96267200	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr10:96251600-96260000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr10:96255600-96267400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr10:96256000-96267400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr10:96256000-96267600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr10:96256000-96268600	Weak transcription	Ovary	ovary
36	chr10:96256200-96271400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr10:96256200-96283600	Weak transcription	Osteobl	bone
38	chr10:96256400-96271400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr10:96256600-96259800	Weak transcription	Primary B cells from peripheral blood	blood
40	chr10:96256800-96271000	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr10:96256800-96283800	Weak transcription	Liver	Liver
42	chr10:96257000-96293400	Weak transcription	HepG2	liver
43	chr10:96257200-96259600	Weak transcription	HSMM	muscle
44	chr10:96257200-96271000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr10:96258000-96259400	Strong transcription	Adipose Nuclei	Adipose
46	chr10:96258400-96259200	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr10:96258800-96259400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr10:96258800-96260400	Strong transcription	Fetal Lung	lung
49	chr10:96258800-96260600	Weak transcription	Fetal Intestine Small	intestine
50	chr10:96258800-96260600	Weak transcription	Fetal Stomach	stomach

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