Variant report

Variant	rs35134124
Chromosome Location	chr10:96351247-96351248
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1048196	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1065027	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11594492	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11595478	0.82[EUR][1000 genomes]
rs12570771	0.85[AFR][1000 genomes]
rs12571306	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12571659	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12769392	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12770064	0.85[EUR][1000 genomes]
rs12774450	0.89[AFR][1000 genomes]
rs12774901	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12778216	0.84[AFR][1000 genomes]
rs12783717	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12784245	0.87[AFR][1000 genomes]
rs2025445	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2031322	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs2860837	0.85[AFR][1000 genomes]
rs34151925	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35172334	0.84[AFR][1000 genomes]
rs35602247	0.81[EUR][1000 genomes]
rs35751085	0.81[AFR][1000 genomes]
rs35805353	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3818504	0.87[AFR][1000 genomes]
rs4244285	0.81[AFR][1000 genomes]
rs4532967	0.81[AFR][1000 genomes]
rs58335703	0.84[AFR][1000 genomes]
rs7082105	0.82[EUR][1000 genomes]
rs7089349	0.88[AFR][1000 genomes]
rs7100783	0.81[AFR][1000 genomes]
rs71482318	0.81[AFR][1000 genomes]
rs7893282	0.87[AFR][1000 genomes]
rs9783239	0.84[AFR][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	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
2	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
3	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
4	nsv517681	chr10:96343228-96387079	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs35134124	CYP2C19	cis	Esophagus Mucosa	GTEx

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:96306400-96357200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr10:96306400-96365600	Weak transcription	Esophagus	oesophagus
3	chr10:96306400-96370400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr10:96306400-96370600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr10:96306400-96371000	Weak transcription	Ovary	ovary
6	chr10:96306600-96353800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr10:96306600-96379200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr10:96306800-96357200	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr10:96306800-96373000	Weak transcription	Primary T cells from cord blood	blood
10	chr10:96307000-96358200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr10:96307000-96375000	Weak transcription	Osteobl	bone
12	chr10:96307200-96371200	Weak transcription	Fetal Brain Male	brain
13	chr10:96307600-96356000	Weak transcription	NHDF-Ad	bronchial
14	chr10:96307600-96373200	Weak transcription	Brain Germinal Matrix	brain
15	chr10:96307800-96373000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr10:96308000-96373200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr10:96309400-96354000	Weak transcription	K562	blood
18	chr10:96309600-96372800	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr10:96309600-96377000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr10:96312200-96354000	Weak transcription	Gastric	stomach
21	chr10:96312800-96372200	Strong transcription	Dnd41	blood
22	chr10:96314200-96373400	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr10:96315000-96369200	Weak transcription	Fetal Kidney	kidney
24	chr10:96316000-96371400	Weak transcription	Fetal Brain Female	brain
25	chr10:96316000-96374000	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr10:96316200-96357600	Weak transcription	Duodenum Mucosa	Duodenum
27	chr10:96316200-96373000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr10:96317000-96372600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr10:96321000-96353200	Weak transcription	Fetal Intestine Large	intestine
30	chr10:96324000-96356600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr10:96324000-96376600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr10:96324200-96353800	Weak transcription	Primary B cells from peripheral blood	blood
33	chr10:96324200-96365600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr10:96325800-96376000	Weak transcription	NHLF	lung
35	chr10:96331000-96377400	Weak transcription	Placenta	Placenta
36	chr10:96331200-96361800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr10:96332400-96359200	Weak transcription	Left Ventricle	heart
38	chr10:96333400-96352000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr10:96335400-96357200	Weak transcription	Small Intestine	intestine
40	chr10:96338800-96354400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr10:96338800-96372000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr10:96339600-96353200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr10:96339600-96353600	Weak transcription	Fetal Intestine Small	intestine
44	chr10:96341000-96352800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr10:96345400-96355000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
46	chr10:96345400-96360000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr10:96345400-96360400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr10:96345400-96371200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr10:96345600-96372400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr10:96346200-96353800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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