Variant report

Variant	rs1048196
Chromosome Location	chr10:96361776-96361777
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	chr10:96361276..96363371-chr10:96363793..96366493,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1065027	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11594492	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11595478	0.80[EUR][1000 genomes]
rs12570771	0.84[AFR][1000 genomes]
rs12571306	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12571659	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs12769392	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs12770064	0.83[EUR][1000 genomes]
rs12774450	0.88[AFR][1000 genomes]
rs12774901	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12778216	0.83[AFR][1000 genomes]
rs12783717	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12784245	0.85[AFR][1000 genomes]
rs2025445	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2031322	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2860837	0.84[AFR][1000 genomes]
rs34151925	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35134124	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35172334	0.83[AFR][1000 genomes]
rs35751085	0.80[AFR][1000 genomes]
rs35805353	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3818504	0.85[AFR][1000 genomes]
rs4244285	0.80[AFR][1000 genomes]
rs4532967	0.80[AFR][1000 genomes]
rs58335703	0.83[AFR][1000 genomes]
rs7082105	0.80[EUR][1000 genomes]
rs7089349	0.87[AFR][1000 genomes]
rs71482318	0.80[AFR][1000 genomes]
rs7893282	0.85[AFR][1000 genomes]
rs9783239	0.83[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
rs1048196	CYP2C19	cis	Esophagus Mucosa	GTEx

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:96306400-96365600	Weak transcription	Esophagus	oesophagus
2	chr10:96306400-96370400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr10:96306400-96370600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr10:96306400-96371000	Weak transcription	Ovary	ovary
5	chr10:96306600-96379200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr10:96306800-96373000	Weak transcription	Primary T cells from cord blood	blood
7	chr10:96307000-96375000	Weak transcription	Osteobl	bone
8	chr10:96307200-96371200	Weak transcription	Fetal Brain Male	brain
9	chr10:96307600-96373200	Weak transcription	Brain Germinal Matrix	brain
10	chr10:96307800-96373000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr10:96308000-96373200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr10:96309600-96372800	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr10:96309600-96377000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr10:96312800-96372200	Strong transcription	Dnd41	blood
15	chr10:96314200-96373400	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr10:96315000-96369200	Weak transcription	Fetal Kidney	kidney
17	chr10:96316000-96371400	Weak transcription	Fetal Brain Female	brain
18	chr10:96316000-96374000	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr10:96316200-96373000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr10:96317000-96372600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
21	chr10:96324000-96376600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr10:96324200-96365600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr10:96325800-96376000	Weak transcription	NHLF	lung
24	chr10:96331000-96377400	Weak transcription	Placenta	Placenta
25	chr10:96331200-96361800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr10:96338800-96372000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr10:96345400-96371200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr10:96345600-96372400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr10:96346600-96372600	Strong transcription	H1 Cell Line	embryonic stem cell
30	chr10:96347200-96368000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr10:96347800-96362000	Strong transcription	Hela-S3	cervix
32	chr10:96348000-96369600	Weak transcription	Fetal Heart	heart
33	chr10:96348200-96364800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr10:96348400-96361800	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr10:96348600-96364200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr10:96348600-96371400	Weak transcription	NHEK	skin
37	chr10:96349200-96371000	Weak transcription	Primary B cells from cord blood	blood
38	chr10:96350000-96362000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr10:96350200-96364200	Weak transcription	Spleen	Spleen
40	chr10:96350600-96368000	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr10:96350600-96371800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr10:96351400-96371000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr10:96352000-96363200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr10:96353000-96363000	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr10:96354200-96365400	Weak transcription	Gastric	stomach
46	chr10:96354400-96365000	Weak transcription	Fetal Intestine Small	intestine
47	chr10:96354800-96376600	Weak transcription	Fetal Intestine Large	intestine
48	chr10:96355000-96375600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr10:96355200-96362600	Weak transcription	Fetal Muscle Leg	muscle
50	chr10:96355200-96369400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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