Variant report

Variant	rs12285326
Chromosome Location	chr11:34019537-34019538
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:34018694..34020673-chr11:34026178..34028156,2	K562	blood:
2	chr11:34016657..34020888-chr11:34127780..34130463,3	K562	blood:
3	chr11:34017204..34020055-chr11:34021200..34023906,3	K562	blood:
4	chr11:34017302..34020894-chr11:34072155..34075321,5	MCF-7	breast:
5	chr11:34018085..34021579-chr11:34051099..34053696,3	K562	blood:
6	chr11:34018287..34020760-chr11:34051667..34053419,2	K562	blood:
7	chr11:34018779..34021162-chr11:34095181..34097010,2	K562	blood:
8	chr11:34017694..34021670-chr11:34071468..34075941,12	MCF-7	breast:
9	chr11:34018480..34020975-chr11:34073812..34076765,2	K562	blood:
10	chr11:34017787..34020470-chr11:34083587..34085765,2	K562	blood:
11	chr11:34019454..34022952-chr11:34071360..34074905,4	K562	blood:
12	chr11:33998966..34000482-chr11:34017921..34020175,2	MCF-7	breast:
13	chr11:34017295..34020752-chr11:34087860..34091315,4	K562	blood:
14	chr11:34006320..34008522-chr11:34018561..34020170,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000135372	Chromatin interaction
ENSG00000135387	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10082562	0.96[ASN][1000 genomes]
rs10768043	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10836144	0.88[ASN][1000 genomes]
rs10836145	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10836146	0.85[ASN][1000 genomes]
rs10836147	0.86[ASN][1000 genomes]
rs11032474	0.82[CHB][hapmap]
rs11032481	0.91[CHB][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs11032482	0.88[ASN][1000 genomes]
rs11032485	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11032487	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12272003	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12277616	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12282240	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12292366	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12418479	0.81[CEU][hapmap];0.95[CHB][hapmap];0.83[CHD][hapmap];0.81[GIH][hapmap]
rs12421153	0.96[CEU][hapmap];0.95[CHB][hapmap];0.83[CHD][hapmap];0.85[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12421249	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12576882	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12577490	0.91[CHB][hapmap];0.81[JPT][hapmap];0.86[ASN][1000 genomes]
rs12787303	0.96[CEU][hapmap];0.95[CHB][hapmap];0.82[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12789531	0.84[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12795523	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12797090	0.82[EUR][1000 genomes]
rs12799109	0.96[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2139177	0.86[ASN][1000 genomes]
rs35836121	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4316483	0.81[EUR][1000 genomes]
rs4756093	0.81[CEU][hapmap];0.95[CHB][hapmap];0.83[CHD][hapmap];0.81[GIH][hapmap];0.81[EUR][1000 genomes]
rs7112270	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7120707	0.95[CHB][hapmap];0.83[CHD][hapmap];0.80[EUR][1000 genomes]
rs7121633	0.87[CHB][hapmap];0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs7122747	0.86[ASN][1000 genomes]
rs7952389	0.84[ASN][1000 genomes]

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs12285326	FJX1	cis	cerebellum	SCAN
rs12285326	FBXO3	cis	cerebellum	SCAN
rs12285326	WT1AS	cis	parietal	SCAN
rs12285326	C11orf41	cis	cerebellum	SCAN

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34016400-34020400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr11:34017800-34019600	Enhancers	Fetal Intestine Large	intestine
3	chr11:34018200-34019600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:34018200-34019600	Enhancers	Brain Germinal Matrix	brain
5	chr11:34018400-34019600	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr11:34018400-34019600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr11:34018400-34019800	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
8	chr11:34018400-34019800	Flanking Active TSS	Hela-S3	cervix
9	chr11:34018600-34019600	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr11:34018800-34019600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr11:34018800-34019600	Enhancers	Fetal Intestine Small	intestine
12	chr11:34018800-34019600	Flanking Active TSS	NHEK	skin
13	chr11:34019000-34019600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
14	chr11:34019000-34019600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
15	chr11:34019000-34019600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr11:34019000-34019600	Flanking Active TSS	Brain Anterior Caudate	brain
17	chr11:34019000-34019600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr11:34019000-34019600	Flanking Active TSS	Duodenum Mucosa	Duodenum
19	chr11:34019000-34019600	Enhancers	Fetal Brain Male	brain
20	chr11:34019000-34019600	Flanking Active TSS	A549	lung
21	chr11:34019000-34019600	Flanking Bivalent TSS/Enh	HepG2	liver
22	chr11:34019000-34019800	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr11:34019000-34019800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr11:34019000-34019800	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr11:34019000-34021200	Enhancers	Brain Substantia Nigra	brain
26	chr11:34019200-34019600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr11:34019200-34019600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr11:34019200-34019600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr11:34019200-34019600	Enhancers	Brain Angular Gyrus	brain
30	chr11:34019200-34019600	Flanking Active TSS	Brain Cingulate Gyrus	brain
31	chr11:34019200-34019600	Enhancers	Placenta Amnion	Placenta Amnion
32	chr11:34019200-34019800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr11:34019200-34019800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr11:34019200-34020200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr11:34019400-34019600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
36	chr11:34019400-34019600	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr11:34019400-34019600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
38	chr11:34019400-34019600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr11:34019400-34019600	Enhancers	Brain Hippocampus Middle	brain
40	chr11:34019400-34019600	Enhancers	GM12878-XiMat	blood
41	chr11:34019400-34019600	Enhancers	Osteobl	bone
42	chr11:34019400-34019800	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr11:34019400-34019800	Enhancers	HMEC	breast
44	chr11:34019400-34019800	Enhancers	K562	blood
45	chr11:34019400-34019800	Enhancers	NHDF-Ad	bronchial
46	chr11:34019400-34020000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr11:34019400-34020400	Enhancers	Placenta	Placenta
48	chr11:34019400-34020800	Weak transcription	Liver	Liver

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