Variant report

Variant	rs9873655
Chromosome Location	chr3:105382227-105382228
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11708360	0.81[AMR][1000 genomes]
rs13061514	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1522287	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1546733	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1550711	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1561919	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1584028	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs16851440	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1867191	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2034157	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2293148	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2301044	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2301045	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2301046	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs35903551	0.85[AMR][1000 genomes]
rs3772539	0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4476538	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4894940	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4894944	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6767808	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6787175	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6800344	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs726443	0.85[AMR][1000 genomes]
rs7612189	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7640740	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7645026	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7646159	0.85[AMR][1000 genomes]
rs9832882	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9876007	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525071	chr3:105004853-105409321	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv534224	chr3:105141696-105404293	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	nsv829651	chr3:105203424-105402136	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv877306	chr3:105372196-105495841	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv877307	chr3:105373836-105465189	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv591242	chr3:105373836-105470134	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv877308	chr3:105373836-105495841	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv877309	chr3:105373836-105542435	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv2755185	chr3:105378310-105597310	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9873655	CBLB	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:105368800-105388400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr3:105368800-105393400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr3:105372200-105387400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr3:105372400-105388000	Weak transcription	Stomach Mucosa	stomach
5	chr3:105373000-105387800	Weak transcription	Gastric	stomach
6	chr3:105373000-105419600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr3:105373400-105401600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr3:105373600-105419600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr3:105373800-105406200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr3:105374200-105388400	Weak transcription	Brain Hippocampus Middle	brain
11	chr3:105374200-105392600	Weak transcription	Psoas Muscle	Psoas
12	chr3:105374400-105388000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr3:105374800-105392800	Weak transcription	Colon Smooth Muscle	Colon
14	chr3:105375000-105388000	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr3:105375000-105395600	Weak transcription	Brain Anterior Caudate	brain
16	chr3:105375200-105395400	Weak transcription	Brain Cingulate Gyrus	brain
17	chr3:105375200-105395600	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr3:105375600-105382800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr3:105375600-105383600	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr3:105375800-105382800	Strong transcription	Primary T cells from cord blood	blood
21	chr3:105375800-105384200	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr3:105375800-105389200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr3:105375800-105399000	Weak transcription	Dnd41	blood
24	chr3:105375800-105405000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr3:105375800-105419600	Weak transcription	Colonic Mucosa	Colon
26	chr3:105375800-105464600	Weak transcription	Small Intestine	intestine
27	chr3:105376000-105382800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr3:105376000-105384200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr3:105376000-105395600	Weak transcription	Esophagus	oesophagus
30	chr3:105376000-105438200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr3:105376200-105383800	Strong transcription	Primary B cells from cord blood	blood
32	chr3:105376200-105383800	Strong transcription	Primary T helper cells PMA-I stimulated	--
33	chr3:105376200-105397200	Weak transcription	NHLF	lung
34	chr3:105376400-105395600	Weak transcription	Fetal Brain Male	brain
35	chr3:105376600-105384000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr3:105376800-105382600	Strong transcription	Fetal Intestine Large	intestine
37	chr3:105376800-105395400	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr3:105376800-105440000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr3:105377200-105382600	Strong transcription	Fetal Lung	lung
40	chr3:105377200-105385000	Strong transcription	Left Ventricle	heart
41	chr3:105377200-105399200	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr3:105378000-105387600	Weak transcription	Stomach Smooth Muscle	stomach
43	chr3:105378000-105387800	Weak transcription	HepG2	liver
44	chr3:105378000-105388000	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr3:105378000-105392600	Weak transcription	Ovary	ovary
46	chr3:105378000-105395600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr3:105378000-105420800	Weak transcription	HUVEC	blood vessel
48	chr3:105378000-105455400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr3:105378200-105388000	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr3:105378400-105385600	Weak transcription	HUES64 Cell Line	embryonic stem cell

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