Variant report

Variant	rs12783717
Chromosome Location	chr10:96372903-96372904
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:96372045..96374578-chr10:96375637..96378833,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CYP2C18-1	chr10:96372044-96373661	NONHSAT015736

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1048196	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1065027	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11594492	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12571306	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12571659	0.82[EUR][1000 genomes]
rs12769392	0.83[EUR][1000 genomes]
rs12770064	0.82[EUR][1000 genomes]
rs12774901	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1926712	0.81[AFR][1000 genomes]
rs2025445	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2031322	0.83[EUR][1000 genomes]
rs2296680	0.84[AFR][1000 genomes]
rs34151925	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35134124	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35805353	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67941743	0.85[AFR][1000 genomes]
rs717238	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	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
rs12783717	CYP2C19	cis	Esophagus Mucosa	GTEx

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:96306600-96379200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr10:96306800-96373000	Weak transcription	Primary T cells from cord blood	blood
3	chr10:96307000-96375000	Weak transcription	Osteobl	bone
4	chr10:96307600-96373200	Weak transcription	Brain Germinal Matrix	brain
5	chr10:96307800-96373000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr10:96308000-96373200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr10:96309600-96377000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr10:96314200-96373400	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr10:96316000-96374000	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr10:96316200-96373000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr10:96324000-96376600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr10:96325800-96376000	Weak transcription	NHLF	lung
13	chr10:96331000-96377400	Weak transcription	Placenta	Placenta
14	chr10:96354800-96376600	Weak transcription	Fetal Intestine Large	intestine
15	chr10:96355000-96375600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr10:96357000-96376200	Weak transcription	Primary hematopoietic stem cells	blood
17	chr10:96358400-96377200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr10:96359200-96373200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr10:96359200-96382000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr10:96360000-96373800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr10:96363200-96373200	Weak transcription	Fetal Muscle Leg	muscle
22	chr10:96363200-96376200	Weak transcription	HSMM	muscle
23	chr10:96363400-96374400	Weak transcription	NH-A	brain
24	chr10:96365200-96374200	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr10:96366200-96376800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr10:96366400-96374000	Weak transcription	Fetal Stomach	stomach
27	chr10:96369600-96374000	Weak transcription	GM12878-XiMat	blood
28	chr10:96369800-96375800	Weak transcription	Thymus	Thymus
29	chr10:96369800-96377200	Weak transcription	HMEC	breast
30	chr10:96370000-96373200	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr10:96370000-96373600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr10:96370000-96374000	Weak transcription	Fetal Kidney	kidney
33	chr10:96370000-96377000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr10:96370000-96377000	Weak transcription	Hela-S3	cervix
35	chr10:96370000-96377200	Weak transcription	Fetal Lung	lung
36	chr10:96370000-96382800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr10:96370200-96382000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr10:96370400-96376200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr10:96370600-96382000	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr10:96370600-96382000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr10:96371000-96373400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr10:96371200-96373400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr10:96371800-96373400	Weak transcription	HUVEC	blood vessel
44	chr10:96371800-96376800	Weak transcription	Fetal Thymus	thymus
45	chr10:96372000-96373800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr10:96372000-96377400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr10:96372200-96377000	Weak transcription	Dnd41	blood
48	chr10:96372400-96380000	Weak transcription	A549	lung
49	chr10:96372600-96382000	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr10:96372600-96382200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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