Variant report

Variant	rs5749161
Chromosome Location	chr22:31150680-31150681
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:31030523..31032317-chr22:31149700..31152237,3	K562	blood:
2	chr22:31029207..31031940-chr22:31149913..31152746,3	MCF-7	breast:
3	chr22:31029021..31032982-chr22:31149993..31154499,6	MCF-7	breast:
4	chr22:31089544..31092653-chr22:31148540..31151696,3	MCF-7	breast:
5	chr22:31030010..31031947-chr22:31150155..31152228,24	K562	blood:
6	chr22:31150005..31151673-chr22:31152647..31154968,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100036	Chromatin interaction
ENSG00000184792	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs12483846	0.83[ASN][1000 genomes]
rs136316	0.93[ASN][1000 genomes]
rs136317	0.92[ASN][1000 genomes]
rs136337	0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs136339	0.96[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs136340	0.93[ASN][1000 genomes]
rs136343	0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs136344	0.96[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs136345	0.96[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs136346	0.95[ASN][1000 genomes]
rs136348	0.83[ASN][1000 genomes]
rs136351	0.99[ASN][1000 genomes]
rs136354	1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs136355	0.96[ASN][1000 genomes]
rs136356	0.92[ASN][1000 genomes]
rs136380	0.86[ASN][1000 genomes]
rs136383	0.91[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs136388	0.81[ASN][1000 genomes]
rs4820025	0.85[ASN][1000 genomes]
rs4820897	0.90[ASN][1000 genomes]
rs4820899	0.97[ASN][1000 genomes]
rs55765123	0.83[ASN][1000 genomes]
rs5749156	0.84[ASN][1000 genomes]
rs5749157	0.85[ASN][1000 genomes]
rs5753281	0.91[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs5753285	0.85[ASN][1000 genomes]
rs5753287	0.82[ASN][1000 genomes]
rs5753290	0.82[ASN][1000 genomes]
rs5753292	0.87[ASN][1000 genomes]
rs5753294	0.86[ASN][1000 genomes]
rs5753295	0.86[ASN][1000 genomes]
rs5753297	0.86[ASN][1000 genomes]
rs5753298	0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs5753299	0.92[ASN][1000 genomes]
rs5753300	0.96[ASN][1000 genomes]
rs58467547	0.82[ASN][1000 genomes]
rs5994335	0.81[ASN][1000 genomes]
rs5997737	0.81[ASN][1000 genomes]
rs5997762	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61537428	0.85[ASN][1000 genomes]
rs62235892	0.82[ASN][1000 genomes]
rs8184976	0.85[ASN][1000 genomes]
rs909705	0.82[ASN][1000 genomes]
rs926340	0.99[ASN][1000 genomes]

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	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
2	esv2763260	chr22:31141521-31185000	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31136000-31151600	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr22:31137600-31153000	Weak transcription	Gastric	stomach
3	chr22:31139600-31160000	Weak transcription	Brain Germinal Matrix	brain
4	chr22:31140000-31185400	Weak transcription	Fetal Brain Female	brain
5	chr22:31146200-31152800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr22:31148200-31155800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr22:31148600-31150800	Enhancers	Fetal Heart	heart
8	chr22:31148600-31151800	Enhancers	HSMMtube	muscle
9	chr22:31148800-31151400	Enhancers	NHDF-Ad	bronchial
10	chr22:31149000-31150800	Enhancers	Placenta	Placenta
11	chr22:31149000-31151600	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr22:31149000-31151600	Enhancers	Brain Cingulate Gyrus	brain
13	chr22:31149200-31151200	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr22:31149200-31151200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr22:31149200-31151600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr22:31149200-31151600	Enhancers	Brain Angular Gyrus	brain
17	chr22:31149400-31151400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr22:31149400-31151400	Enhancers	Brain Anterior Caudate	brain
19	chr22:31149400-31151400	Enhancers	Brain Hippocampus Middle	brain
20	chr22:31149400-31151400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr22:31149400-31151600	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr22:31149600-31151000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr22:31149800-31151400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr22:31149800-31151400	Enhancers	Duodenum Mucosa	Duodenum
25	chr22:31149800-31151400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr22:31150000-31151000	Weak transcription	Fetal Muscle Leg	muscle
27	chr22:31150000-31151200	Enhancers	Spleen	Spleen
28	chr22:31150000-31173400	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr22:31150200-31151200	Enhancers	Brain Substantia Nigra	brain
30	chr22:31150400-31150800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr22:31150400-31151000	Enhancers	Fetal Muscle Trunk	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links