Variant report

Variant	rs12278844
Chromosome Location	chr11:76535818-76535819
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:76531797..76536472-chr11:76570745..76574159,6	MCF-7	breast:
2	chr11:76493947..76496301-chr11:76534591..76536584,2	MCF-7	breast:
3	chr11:76497234..76499501-chr11:76534793..76537709,2	K562	blood:
4	chr11:76350867..76353038-chr11:76535438..76537747,2	MCF-7	breast:
5	chr11:76497529..76499535-chr11:76534642..76536244,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182704	Chromatin interaction
ENSG00000255100	Chromatin interaction
ENSG00000078124	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11236954	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11236960	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11236961	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11600598	0.83[EUR][1000 genomes]
rs11600737	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11607420	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11608202	0.83[EUR][1000 genomes]
rs12278208	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1440976	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28407842	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56048519	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57918050	0.87[EUR][1000 genomes]
rs61336866	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6592666	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6592669	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6592670	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7106688	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7122943	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7128590	1.00[EUR][1000 genomes]
rs7930972	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7932943	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7942487	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7948381	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897931	chr11:76489673-76540708	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76533600-76537400	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr11:76533600-76537400	Enhancers	HMEC	breast
3	chr11:76533800-76536000	Weak transcription	GM12878-XiMat	blood
4	chr11:76533800-76537000	Enhancers	NHDF-Ad	bronchial
5	chr11:76534200-76537400	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr11:76534400-76536800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr11:76534400-76537200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr11:76534400-76537200	Enhancers	Placenta	Placenta
9	chr11:76534400-76537400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr11:76534600-76536000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr11:76534600-76536400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr11:76534600-76536600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr11:76534600-76536800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr11:76534600-76536800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr11:76534600-76536800	Enhancers	Esophagus	oesophagus
16	chr11:76534600-76536800	Enhancers	Fetal Muscle Leg	muscle
17	chr11:76534600-76536800	Enhancers	Lung	lung
18	chr11:76534600-76536800	Flanking Active TSS	NHEK	skin
19	chr11:76534600-76537200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr11:76534600-76537200	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr11:76534600-76537200	Enhancers	Spleen	Spleen
22	chr11:76534800-76536800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr11:76534800-76536800	Enhancers	Left Ventricle	heart
24	chr11:76534800-76537400	Enhancers	Adipose Nuclei	Adipose
25	chr11:76535000-76536400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr11:76535200-76536200	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr11:76535200-76536600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr11:76535200-76536600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr11:76535200-76536800	Enhancers	NH-A	brain
30	chr11:76535200-76541400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr11:76535400-76536000	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr11:76535400-76536600	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr11:76535400-76537000	Enhancers	Osteobl	bone
34	chr11:76535400-76546400	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr11:76535400-76549000	Weak transcription	Small Intestine	intestine
36	chr11:76535600-76536000	Weak transcription	Right Atrium	heart
37	chr11:76535600-76536200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr11:76535600-76536400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr11:76535600-76536800	Enhancers	A549	lung
40	chr11:76535600-76537000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr11:76535600-76537200	Enhancers	HUVEC	blood vessel
42	chr11:76535800-76536000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr11:76535800-76536400	Enhancers	K562	blood
44	chr11:76535800-76536800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr11:76535800-76536800	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr11:76535800-76537400	Enhancers	Hela-S3	cervix
47	chr11:76535800-76537400	Enhancers	Monocytes-CD14+_RO01746	blood

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