Variant report

Variant	rs9841500
Chromosome Location	chr3:105584066-105584067
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:105584001..105586223-chr3:105590379..105592467,2	MCF-7	breast:
2	chr3:105579577..105582453-chr3:105582537..105585477,2	MCF-7	breast:
3	chr3:105581787..105584079-chr3:105585457..105588306,3	K562	blood:

Variant related genes	Relation type
ENSG00000114423	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10511246	0.81[CEU][hapmap]
rs10804442	0.94[ASW][hapmap];0.87[CEU][hapmap];0.85[CHB][hapmap];0.98[CHD][hapmap];0.83[GIH][hapmap];0.88[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.96[TSI][hapmap];0.93[YRI][hapmap];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10933833	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11711088	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11924742	0.93[CEU][hapmap]
rs12636287	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13060223	1.00[ASW][hapmap];0.87[CEU][hapmap];0.85[CHB][hapmap];0.95[CHD][hapmap];0.83[GIH][hapmap];0.88[JPT][hapmap];0.85[LWK][hapmap];0.96[MEX][hapmap];0.87[MKK][hapmap];0.96[TSI][hapmap];0.89[YRI][hapmap];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13085563	0.87[CEU][hapmap];0.85[CHB][hapmap];0.88[JPT][hapmap];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13100446	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1443102	0.91[CEU][hapmap];0.89[CHB][hapmap];0.87[JPT][hapmap];0.96[YRI][hapmap];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1470283	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1550711	1.00[ASW][hapmap]
rs1867191	1.00[ASW][hapmap]
rs1867192	0.87[CEU][hapmap]
rs1867195	0.94[CEU][hapmap];0.81[CHB][hapmap];0.88[JPT][hapmap];0.86[YRI][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1910499	0.87[CEU][hapmap]
rs1992522	0.87[CEU][hapmap];0.90[CHB][hapmap];0.88[JPT][hapmap];0.86[YRI][hapmap];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2055557	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2089091	0.87[CEU][hapmap]
rs2099892	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2120105	0.83[ASW][hapmap]
rs2197209	0.87[CEU][hapmap]
rs2399056	0.85[CHB][hapmap];0.88[JPT][hapmap];0.93[YRI][hapmap];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28427229	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28533328	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3996189	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4243427	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4447799	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4894950	0.87[CEU][hapmap];0.90[CHB][hapmap];0.88[JPT][hapmap];0.89[YRI][hapmap];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4894953	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4894954	0.87[CEU][hapmap];0.90[CHB][hapmap];0.88[JPT][hapmap];0.89[YRI][hapmap];0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4894957	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4894960	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4894962	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6437621	0.87[CEU][hapmap]
rs6437624	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6767627	0.87[CEU][hapmap]
rs6788366	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6795961	1.00[ASW][hapmap];0.87[CEU][hapmap];0.85[CHB][hapmap];0.93[CHD][hapmap];0.82[GIH][hapmap];0.88[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.96[TSI][hapmap];0.93[YRI][hapmap];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6804152	0.81[EUR][1000 genomes]
rs6807382	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71627856	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs726443	1.00[ASW][hapmap]
rs7432372	0.85[CEU][hapmap];0.90[CHB][hapmap];0.88[JPT][hapmap];0.93[YRI][hapmap];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7629357	0.87[CEU][hapmap]
rs7637327	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7641825	0.81[CEU][hapmap]
rs7645021	0.87[CEU][hapmap];0.90[CHB][hapmap];0.88[JPT][hapmap];0.89[YRI][hapmap];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7647955	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7649466	0.81[CEU][hapmap]
rs7651784	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs769315	1.00[ASW][hapmap];0.87[CEU][hapmap];0.85[CHB][hapmap];0.98[CHD][hapmap];0.83[GIH][hapmap];0.88[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.93[TSI][hapmap];0.93[YRI][hapmap];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9657904	0.87[CEU][hapmap]
rs971110	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9846534	0.87[CEU][hapmap]
rs9869648	0.87[CEU][hapmap]
rs9874600	0.87[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv1008564	chr3:105554580-105643435	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1008876	chr3:105554580-105645373	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv877312	chr3:105560638-105916506	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers 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
5	esv3385268	chr3:105583991-105584272	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9841500	CBLB	cis	cerebellum	SCAN

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:105544200-105584600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr3:105546600-105586200	Weak transcription	Esophagus	oesophagus
3	chr3:105557800-105586200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr3:105558600-105586600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr3:105561600-105586200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr3:105562000-105586000	Weak transcription	K562	blood
7	chr3:105563000-105584600	Weak transcription	Stomach Smooth Muscle	stomach
8	chr3:105563000-105586800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr3:105563800-105584400	Weak transcription	Brain Angular Gyrus	brain
10	chr3:105564800-105585000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr3:105565600-105584800	Weak transcription	NHEK	skin
12	chr3:105566200-105584800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr3:105566200-105585000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr3:105566600-105584600	Weak transcription	Fetal Stomach	stomach
15	chr3:105567000-105584200	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr3:105567200-105584600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr3:105568000-105586200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr3:105568000-105586200	Weak transcription	Pancreas	Pancrea
19	chr3:105568800-105586200	Weak transcription	Colonic Mucosa	Colon
20	chr3:105569800-105586200	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr3:105570200-105584200	Weak transcription	Brain Cingulate Gyrus	brain
22	chr3:105570600-105584200	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr3:105571200-105584600	Weak transcription	NHLF	lung
24	chr3:105572000-105586200	Weak transcription	Lung	lung
25	chr3:105572200-105584200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr3:105572200-105584600	Weak transcription	HSMMtube	muscle
27	chr3:105572200-105585000	Weak transcription	Thymus	Thymus
28	chr3:105572200-105585400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr3:105572600-105585200	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr3:105572600-105585800	Weak transcription	Fetal Thymus	thymus
31	chr3:105572800-105585800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr3:105573200-105585000	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr3:105573400-105584200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr3:105579400-105584600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr3:105579400-105584800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr3:105579400-105585000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr3:105579600-105584200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr3:105579800-105585600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr3:105579800-105585800	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr3:105580400-105584600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr3:105580400-105584600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr3:105580400-105584600	Enhancers	Fetal Heart	heart
43	chr3:105581400-105585600	Weak transcription	Aorta	Aorta
44	chr3:105581600-105584600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr3:105581600-105585200	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
46	chr3:105581800-105584600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr3:105581800-105586200	Weak transcription	Gastric	stomach
48	chr3:105581800-105588800	Active TSS	Right Ventricle	heart
49	chr3:105582000-105584400	Genic enhancers	Primary B cells from cord blood	blood
50	chr3:105582000-105584600	Strong transcription	HUES64 Cell Line	embryonic stem cell

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