Variant report

Variant	rs3867132
Chromosome Location	chr11:66309269-66309270
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:66309197-66309335	K562	blood:	n/a	n/a
2	POLR2A	chr11:66308927-66310113	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:66309086..66311433-chr11:66555544..66558511,2	K562	blood:
2	chr11:66304927..66310447-chr11:66310654..66314937,8	MCF-7	breast:
3	chr11:66297799..66301066-chr11:66306778..66311237,4	K562	blood:
4	chr11:66309047..66311384-chr11:66342148..66345525,3	K562	blood:

Variant related genes	Relation type
ACTN3	TF binding region
ENSG00000269990	TF binding region
ENSG00000173715	Chromatin interaction
ENSG00000248746	Chromatin interaction
ENSG00000174165	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10896128	0.98[EUR][1000 genomes]
rs1127145	1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs11550057	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];0.93[GIH][hapmap];0.82[MEX][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes]
rs15969	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];0.93[GIH][hapmap];0.91[MEX][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes]
rs17496250	1.00[YRI][hapmap]
rs2229455	0.89[EUR][1000 genomes]
rs2229456	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs2275998	1.00[CEU][hapmap];0.91[MEX][hapmap];0.83[TSI][hapmap];0.89[EUR][1000 genomes]
rs2282529	1.00[YRI][hapmap]
rs2298467	1.00[JPT][hapmap]
rs35166611	1.00[YRI][hapmap]
rs3816492	1.00[YRI][hapmap]
rs3867133	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];0.92[GIH][hapmap];0.82[MEX][hapmap];0.93[TSI][hapmap]
rs57043177	0.80[EUR][1000 genomes]
rs57127845	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59320108	0.87[EUR][1000 genomes]
rs59431265	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs59566349	0.86[EUR][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	nsv897771	chr11:66011280-66362997	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
2	nsv897780	chr11:66083129-66362997	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
3	nsv522277	chr11:66234023-66493825	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
4	nsv897787	chr11:66300348-66347850	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs3867132	CCND1	cis	parietal	SCAN
rs3867132	GPR152	cis	occipital cortex	BrainEAC
rs3867132	PACS1	cis	parietal	SCAN
rs3867132	CCS	Cis_1M	lymphoblastoid	RTeQTL
rs3867132	CTSF	cis	parietal	SCAN
rs3867132	COX8A	cis	cerebellum	SCAN
rs3867132	ESRRA	cis	cerebellum	SCAN
rs3867132	CCS	cis	cerebellum	SCAN
rs3867132	UNC93B1	cis	cerebellum	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66278600-66311000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:66278800-66309800	Weak transcription	HSMMtube	muscle
3	chr11:66278800-66312800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:66279000-66313000	Weak transcription	Small Intestine	intestine
5	chr11:66279200-66309800	Weak transcription	HUVEC	blood vessel
6	chr11:66279200-66310400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr11:66279200-66310800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr11:66279200-66310800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr11:66279400-66311000	Weak transcription	Fetal Brain Male	brain
10	chr11:66279400-66311200	Weak transcription	Right Atrium	heart
11	chr11:66281000-66311000	Strong transcription	Fetal Stomach	stomach
12	chr11:66282000-66309600	Weak transcription	NHDF-Ad	bronchial
13	chr11:66283400-66312800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr11:66289000-66309800	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr11:66289000-66312800	Weak transcription	Stomach Mucosa	stomach
16	chr11:66290200-66310800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr11:66291000-66309800	Weak transcription	HSMM	muscle
18	chr11:66291200-66309800	Weak transcription	NH-A	brain
19	chr11:66291200-66311600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr11:66291400-66309400	Weak transcription	A549	lung
21	chr11:66291400-66309600	Weak transcription	GM12878-XiMat	blood
22	chr11:66291400-66311000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:66291600-66309800	Weak transcription	HMEC	breast
24	chr11:66291600-66312600	Weak transcription	NHEK	skin
25	chr11:66293600-66311000	Strong transcription	Fetal Intestine Small	intestine
26	chr11:66294800-66312400	Weak transcription	Hela-S3	cervix
27	chr11:66296200-66311200	Weak transcription	Fetal Kidney	kidney
28	chr11:66299200-66311200	Weak transcription	Fetal Lung	lung
29	chr11:66301800-66310200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr11:66302200-66310000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr11:66302200-66310200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr11:66302400-66309800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr11:66302400-66309800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr11:66302400-66312800	Weak transcription	K562	blood
35	chr11:66302600-66310600	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr11:66302800-66310000	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr11:66302800-66310800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr11:66302800-66310800	Strong transcription	Thymus	Thymus
39	chr11:66303000-66310800	Strong transcription	Primary B cells from peripheral blood	blood
40	chr11:66303200-66310000	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr11:66303200-66310800	Strong transcription	Brain Cingulate Gyrus	brain
42	chr11:66303200-66311000	Strong transcription	Liver	Liver
43	chr11:66303200-66311000	Strong transcription	Placenta	Placenta
44	chr11:66303400-66310200	Strong transcription	Adipose Nuclei	Adipose
45	chr11:66303400-66311200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr11:66303800-66309800	Weak transcription	Osteobl	bone
47	chr11:66303800-66311000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr11:66303800-66312200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr11:66304800-66310400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr11:66305800-66309800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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