Variant report

Variant	rs286896
Chromosome Location	chr11:34674475-34674476
allele	C/T
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:34673845..34676364-chr11:34936249..34938409,2	MCF-7	breast:
2	chr11:34658574..34661382-chr11:34673276..34674986,2	K562	blood:
3	chr11:34673816..34675543-chr11:34675726..34677757,2	K562	blood:
4	chr11:34661556..34663728-chr11:34672732..34675363,2	K562	blood:
5	chr11:34671248..34673590-chr11:34674140..34675712,2	MCF-7	breast:
6	chr11:34653892..34655575-chr11:34674253..34677029,2	MCF-7	breast:
7	chr11:34659576..34666077-chr11:34671950..34677960,8	MCF-7	breast:
8	chr11:34673700..34675383-chr11:34678871..34681043,2	K562	blood:
9	chr11:34660689..34662189-chr11:34672411..34674964,2	MCF-7	breast:
10	chr11:34637828..34640376-chr11:34674188..34675830,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000149089	Chromatin interaction
ENSG00000135373	Chromatin interaction
ENSG00000110435	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11032801	0.95[JPT][hapmap]
rs11032803	0.90[JPT][hapmap]
rs2274438	0.85[JPT][hapmap]
rs286889	0.86[CHB][hapmap];0.83[CHD][hapmap];0.94[MEX][hapmap];0.86[TSI][hapmap];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs286897	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.97[TSI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs286898	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs704732	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832117	chr11:34639008-34831199	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv1045130	chr11:34641598-34777725	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv1052192	chr11:34641598-34781288	ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv1051492	chr11:34641598-34789331	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv1052008	chr11:34641598-34794024	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv467788	chr11:34642493-34770494	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
7	nsv553998	chr11:34642493-34770494	Enhancers Strong transcription Active TSS ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
8	nsv518807	chr11:34642493-34780936	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
9	nsv519718	chr11:34642493-34780936	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer 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	5 gene(s)	inside rSNPs	diseases
10	nsv467789	chr11:34642493-34780936	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
11	nsv467790	chr11:34642493-34780936	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
12	nsv553999	chr11:34642493-34780936	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
13	nsv554000	chr11:34643780-34780936	Genic enhancers Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
14	nsv869812	chr11:34648088-34810956	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs286896	APIP	cis	cerebellum	SCAN
rs286896	RAG2	cis	cerebellum	SCAN

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34664400-34677000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr11:34664600-34681800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr11:34667400-34681800	Weak transcription	Fetal Kidney	kidney
4	chr11:34668200-34675400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:34669400-34676000	Genic enhancers	Rectal Mucosa Donor 31	rectum
6	chr11:34669600-34674800	Weak transcription	HSMM	muscle
7	chr11:34669600-34675000	Weak transcription	HSMMtube	muscle
8	chr11:34669600-34678200	Enhancers	Stomach Mucosa	stomach
9	chr11:34670400-34674800	Genic enhancers	Gastric	stomach
10	chr11:34671200-34674600	Genic enhancers	NHEK	skin
11	chr11:34671200-34676400	Enhancers	Primary B cells from peripheral blood	blood
12	chr11:34671400-34674800	Enhancers	Small Intestine	intestine
13	chr11:34671600-34675800	Enhancers	K562	blood
14	chr11:34671600-34676800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr11:34671600-34681600	Weak transcription	Fetal Stomach	stomach
16	chr11:34671800-34674600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr11:34671800-34676600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr11:34672000-34676800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:34672000-34677200	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr11:34672200-34678600	Weak transcription	Right Atrium	heart
21	chr11:34672600-34675000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr11:34672600-34676400	Genic enhancers	Rectal Mucosa Donor 29	rectum
23	chr11:34672800-34678400	Enhancers	Brain Substantia Nigra	brain
24	chr11:34673000-34674800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr11:34673000-34675800	Weak transcription	Esophagus	oesophagus
26	chr11:34673000-34677600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr11:34673200-34674800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr11:34673200-34675000	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
29	chr11:34673200-34675000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr11:34673200-34675000	Enhancers	A549	lung
31	chr11:34673200-34675200	Enhancers	HepG2	liver
32	chr11:34673200-34677800	Enhancers	NHDF-Ad	bronchial
33	chr11:34673200-34677800	Enhancers	Osteobl	bone
34	chr11:34673200-34678800	Enhancers	Brain Hippocampus Middle	brain
35	chr11:34673400-34674600	Weak transcription	Brain Angular Gyrus	brain
36	chr11:34673400-34674600	Strong transcription	Pancreas	Pancrea
37	chr11:34673400-34675000	Flanking Active TSS	GM12878-XiMat	blood
38	chr11:34673400-34675600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr11:34673400-34676200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
40	chr11:34673400-34677200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr11:34673400-34677400	Enhancers	Brain Anterior Caudate	brain
42	chr11:34673600-34674800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr11:34673600-34674800	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr11:34673600-34675400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr11:34673600-34675600	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr11:34673600-34675800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr11:34673600-34676600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr11:34673600-34677000	Enhancers	Pancreatic Islets	Pancreatic Islet
49	chr11:34673800-34674600	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr11:34673800-34674800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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