Variant report

Variant	rs12284291
Chromosome Location	chr11:63722664-63722665
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:63531921..63533948-chr11:63721164..63724023,2	K562	blood:
2	chr11:63716457..63721344-chr11:63722093..63724085,4	MCF-7	breast:
3	chr11:63710236..63713268-chr11:63721628..63723810,3	K562	blood:
4	chr11:63717794..63720318-chr11:63722548..63724637,2	K562	blood:
5	chr11:63710236..63713090-chr11:63721173..63723810,3	K562	blood:
6	chr11:63721106..63724001-chr11:63724769..63727723,3	MCF-7	breast:
7	chr11:63721885..63726224-chr11:63740500..63742483,3	K562	blood:

Variant related genes	Relation type
ENSG00000176340	Chromatin interaction
ENSG00000110583	Chromatin interaction
ENSG00000188070	Chromatin interaction
ENSG00000256100	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11231647	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11231650	1.00[JPT][hapmap]
rs11231654	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12272430	0.86[LWK][hapmap];0.81[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12273949	0.86[LWK][hapmap];0.81[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12274488	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12274687	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12276514	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12284007	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12285082	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12294590	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34005543	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3802942	1.00[JPT][hapmap]
rs7103036	0.93[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7936540	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv468590	chr11:63639881-63783352	Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv555181	chr11:63639881-63783352	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv897629	chr11:63664882-63866959	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv897630	chr11:63664882-63924446	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
6	nsv897631	chr11:63664882-64129722	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	254 gene(s)	inside rSNPs	diseases
7	nsv897639	chr11:63691049-63844683	Bivalent Enhancer Active TSS Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	esv1849906	chr11:63719273-63880383	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12284291	JUP	trans	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63707200-63724200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:63708200-63723400	Weak transcription	NH-A	brain
3	chr11:63713200-63725400	Weak transcription	Psoas Muscle	Psoas
4	chr11:63713200-63725800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr11:63713400-63724200	Strong transcription	K562	blood
6	chr11:63713400-63725200	Strong transcription	Fetal Intestine Small	intestine
7	chr11:63713400-63725400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr11:63713400-63725800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:63713400-63726200	Strong transcription	Fetal Stomach	stomach
10	chr11:63713400-63726800	Weak transcription	Fetal Brain Male	brain
11	chr11:63713400-63733800	Weak transcription	Right Atrium	heart
12	chr11:63713600-63723000	Weak transcription	Fetal Heart	heart
13	chr11:63713600-63724200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr11:63713600-63724200	Strong transcription	Cortex derived primary cultured neurospheres	brain
15	chr11:63713600-63724400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr11:63713600-63725200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr11:63713600-63726000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr11:63713800-63724400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr11:63713800-63726000	Strong transcription	Fetal Muscle Leg	muscle
20	chr11:63714000-63726200	Strong transcription	Fetal Muscle Trunk	muscle
21	chr11:63716400-63724000	Strong transcription	Sigmoid Colon	Sigmoid Colon
22	chr11:63717600-63726200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr11:63717600-63726200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr11:63717800-63724000	Strong transcription	HSMMtube	muscle
25	chr11:63717800-63726000	Strong transcription	Brain Germinal Matrix	brain
26	chr11:63717800-63726000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr11:63718200-63724000	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr11:63718200-63725800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr11:63718800-63726000	Strong transcription	Fetal Brain Female	brain
30	chr11:63719000-63724000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr11:63719000-63724000	Strong transcription	Hela-S3	cervix
32	chr11:63719000-63724200	Strong transcription	Fetal Lung	lung
33	chr11:63719200-63725800	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr11:63719400-63723800	Strong transcription	HepG2	liver
35	chr11:63719400-63724200	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr11:63719400-63724200	Strong transcription	Skeletal Muscle Male	skeletal muscle
37	chr11:63719400-63724200	Strong transcription	Spleen	Spleen
38	chr11:63719400-63726000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
39	chr11:63719600-63723000	Strong transcription	Rectal Mucosa Donor 31	rectum
40	chr11:63719600-63724000	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr11:63719600-63724000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr11:63719600-63724000	Strong transcription	Brain Cingulate Gyrus	brain
43	chr11:63719600-63724200	Strong transcription	H9 Cell Line	embryonic stem cell
44	chr11:63719600-63724200	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr11:63719600-63724200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr11:63719600-63724200	Strong transcription	Brain Angular Gyrus	brain
47	chr11:63719600-63724200	Strong transcription	Lung	lung
48	chr11:63719600-63724200	Strong transcription	Right Ventricle	heart
49	chr11:63719600-63724400	Strong transcription	Gastric	stomach
50	chr11:63719600-63725200	Strong transcription	iPS-18 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links