Variant report

Variant	rs11836282
Chromosome Location	chr12:50177324-50177325
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:50176059..50178005-chr12:50259568..50261964,2	K562	blood:
2	chr12:50172236..50175576-chr12:50176494..50178771,3	MCF-7	breast:
3	chr12:50175523..50177897-chr12:50188945..50191767,2	K562	blood:

Variant related genes	Relation type
ENSG00000167566	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11169162	0.81[CEU][hapmap]
rs11169163	0.84[CEU][hapmap];0.86[JPT][hapmap]
rs2603105	0.92[CEU][hapmap]
rs2603112	0.81[CEU][hapmap]
rs2720293	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs2720301	0.82[EUR][1000 genomes]
rs4075681	0.92[CEU][hapmap]
rs7953534	0.84[CEU][hapmap];0.93[JPT][hapmap]
rs7978693	0.92[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
2	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs11836282	RAPGEF3	cis	parietal	SCAN
rs11836282	ACVR1B	cis	cerebellum	SCAN
rs11836282	DBX2	cis	parietal	SCAN
rs11836282	PLEKHA9	cis	cerebellum	SCAN
rs11836282	CCDC65	cis	parietal	SCAN

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50158800-50181600	Weak transcription	Brain Hippocampus Middle	brain
2	chr12:50159200-50177600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr12:50159400-50178600	Weak transcription	Right Ventricle	heart
4	chr12:50160600-50183400	Weak transcription	Primary T cells from cord blood	blood
5	chr12:50170000-50184800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr12:50170200-50184400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr12:50170800-50191200	Weak transcription	Brain Substantia Nigra	brain
8	chr12:50172000-50183400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr12:50172200-50177600	Weak transcription	Fetal Thymus	thymus
10	chr12:50172400-50177400	Weak transcription	K562	blood
11	chr12:50172400-50177600	Weak transcription	Hela-S3	cervix
12	chr12:50172400-50183800	Weak transcription	Pancreas	Pancrea
13	chr12:50172400-50192600	Weak transcription	Duodenum Mucosa	Duodenum
14	chr12:50172800-50184600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr12:50174400-50209600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:50176400-50179600	Enhancers	Fetal Muscle Trunk	muscle
17	chr12:50176600-50178600	Enhancers	Psoas Muscle	Psoas
18	chr12:50176600-50179000	Enhancers	Fetal Muscle Leg	muscle
19	chr12:50176600-50179600	Enhancers	HUVEC	blood vessel
20	chr12:50176800-50177400	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr12:50176800-50179200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr12:50177000-50179200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr12:50177000-50179200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr12:50177200-50177400	Enhancers	Liver	Liver
25	chr12:50177200-50177800	Enhancers	Fetal Kidney	kidney
26	chr12:50177200-50178400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:50177200-50178400	Enhancers	Fetal Heart	heart
28	chr12:50177200-50178400	Enhancers	Rectal Smooth Muscle	rectum
29	chr12:50177200-50178400	Enhancers	Right Atrium	heart
30	chr12:50177200-50178600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr12:50177200-50178600	Enhancers	Adipose Nuclei	Adipose
32	chr12:50177200-50178800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr12:50177200-50178800	Enhancers	Fetal Lung	lung
34	chr12:50177200-50178800	Enhancers	Placenta	Placenta
35	chr12:50177200-50178800	Enhancers	Fetal Stomach	stomach
36	chr12:50177200-50178800	Enhancers	NHDF-Ad	bronchial
37	chr12:50177200-50178800	Enhancers	NHLF	lung
38	chr12:50177200-50179000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr12:50177200-50179000	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr12:50177200-50179200	Enhancers	HSMMtube	muscle
41	chr12:50177200-50179600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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