Variant report

Variant	rs136383
Chromosome Location	chr22:31113004-31113005
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:31089448..31091772-chr22:31110969..31113819,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000184792	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs11913875	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12483846	0.94[ASN][1000 genomes]
rs12484930	0.90[ASN][1000 genomes]
rs13053993	0.81[ASN][1000 genomes]
rs136316	0.81[ASN][1000 genomes]
rs136337	0.86[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs136339	0.87[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs136340	0.81[ASN][1000 genomes]
rs136343	0.86[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs136344	0.86[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs136345	0.86[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs136346	0.83[ASN][1000 genomes]
rs136348	0.85[ASN][1000 genomes]
rs136351	0.88[ASN][1000 genomes]
rs136354	0.91[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.86[MEX][hapmap];0.88[ASN][1000 genomes]
rs136355	0.88[ASN][1000 genomes]
rs136356	0.85[ASN][1000 genomes]
rs136379	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs136380	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs136388	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4820025	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4820897	0.87[ASN][1000 genomes]
rs4820899	0.89[ASN][1000 genomes]
rs55765123	0.92[ASN][1000 genomes]
rs5749156	0.96[ASN][1000 genomes]
rs5749157	0.96[ASN][1000 genomes]
rs5749161	0.91[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs5753281	0.82[CHB][hapmap];0.90[CHD][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs5753284	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs5753285	0.97[ASN][1000 genomes]
rs5753287	0.92[ASN][1000 genomes]
rs5753290	0.93[ASN][1000 genomes]
rs5753292	0.98[ASN][1000 genomes]
rs5753294	0.95[ASN][1000 genomes]
rs5753295	0.95[ASN][1000 genomes]
rs5753297	0.95[ASN][1000 genomes]
rs5753298	0.85[CHD][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs5753299	0.84[ASN][1000 genomes]
rs5753300	0.88[ASN][1000 genomes]
rs58467547	0.85[ASN][1000 genomes]
rs5997737	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5997762	0.80[ASN][1000 genomes]
rs61537428	0.96[ASN][1000 genomes]
rs62235882	0.89[ASN][1000 genomes]
rs62235892	0.92[ASN][1000 genomes]
rs7292017	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8184976	0.96[ASN][1000 genomes]
rs909705	0.94[ASN][1000 genomes]
rs926340	0.88[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	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs136383	TFIP11	cis	cerebellum	SCAN

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31108800-31113200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr22:31112600-31113200	Enhancers	Muscle Satellite Cultured Cells	--
3	chr22:31112600-31113800	Enhancers	NHDF-Ad	bronchial
4	chr22:31112600-31114600	Enhancers	HMEC	breast
5	chr22:31112600-31117000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr22:31112800-31113800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr22:31112800-31114200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr22:31112800-31114200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr22:31112800-31114200	Enhancers	Brain Anterior Caudate	brain
10	chr22:31112800-31114200	Enhancers	HUVEC	blood vessel
11	chr22:31112800-31114200	Enhancers	NHEK	skin
12	chr22:31112800-31114400	Enhancers	HSMMtube	muscle
13	chr22:31112800-31114400	Enhancers	NH-A	brain
14	chr22:31112800-31114600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr22:31112800-31114600	Enhancers	Osteobl	bone
16	chr22:31112800-31114800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr22:31112800-31114800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr22:31112800-31115200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr22:31112800-31115400	Enhancers	HSMM	muscle
20	chr22:31112800-31115600	Enhancers	Brain Hippocampus Middle	brain
21	chr22:31113000-31114400	Enhancers	Brain Substantia Nigra	brain

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