Variant report

Variant	rs136344
Chromosome Location	chr22:31151319-31151320
allele	G/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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:20772349..20772857-chr22:31151086..31151590,2	K562	blood:
2	chr22:31030523..31032317-chr22:31149700..31152237,3	K562	blood:
3	chr22:31029207..31031940-chr22:31149913..31152746,3	MCF-7	breast:
4	chr22:31001044..31001817-chr22:31150992..31151551,2	MCF-7	breast:
5	chr22:31147020..31149382-chr22:31151081..31153329,2	K562	blood:
6	chr22:31029021..31032982-chr22:31149993..31154499,6	MCF-7	breast:
7	chr22:31089544..31092653-chr22:31148540..31151696,3	MCF-7	breast:
8	chr22:30683911..30684563-chr22:31150961..31152038,3	K562	blood:
9	chr22:30951003..30951874-chr22:31151091..31151667,2	MCF-7	breast:
10	chr22:31030000..31032034-chr22:31150706..31152049,22	MCF-7	breast:
11	chr22:31030010..31031947-chr22:31150155..31152228,24	K562	blood:
12	chr22:31090327..31091007-chr22:31151212..31152113,2	MCF-7	breast:
13	chr22:31030531..31032317-chr22:31150732..31152918,3	K562	blood:
14	chr22:31090243..31091477-chr22:31151138..31152055,3	MCF-7	breast:
15	chr22:31150005..31151673-chr22:31152647..31154968,2	MCF-7	breast:
16	chr22:31030229..31031056-chr22:31150888..31151995,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000100036	Chromatin interaction
ENSG00000184792	Chromatin interaction
ENSG00000239282	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs11913875	0.81[ASN][1000 genomes]
rs12483846	0.81[ASN][1000 genomes]
rs12484930	0.81[ASN][1000 genomes]
rs136316	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs136317	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs136337	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs136339	0.92[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs136340	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs136343	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs136345	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs136346	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs136348	0.85[ASN][1000 genomes]
rs136351	0.97[ASN][1000 genomes]
rs136354	0.95[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs136355	0.94[ASN][1000 genomes]
rs136356	0.94[ASN][1000 genomes]
rs136380	0.88[ASN][1000 genomes]
rs136383	0.86[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs136388	0.82[ASN][1000 genomes]
rs4820025	0.87[ASN][1000 genomes]
rs4820897	0.92[ASN][1000 genomes]
rs4820899	0.95[ASN][1000 genomes]
rs55765123	0.85[ASN][1000 genomes]
rs5749156	0.82[ASN][1000 genomes]
rs5749157	0.87[ASN][1000 genomes]
rs5749161	0.96[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs5753281	0.95[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs5753285	0.87[ASN][1000 genomes]
rs5753287	0.84[ASN][1000 genomes]
rs5753288	0.80[ASN][1000 genomes]
rs5753290	0.84[ASN][1000 genomes]
rs5753292	0.85[ASN][1000 genomes]
rs5753294	0.88[ASN][1000 genomes]
rs5753295	0.88[ASN][1000 genomes]
rs5753297	0.88[ASN][1000 genomes]
rs5753298	0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs5753299	0.90[ASN][1000 genomes]
rs5753300	0.94[ASN][1000 genomes]
rs5994335	0.83[ASN][1000 genomes]
rs5997737	0.82[ASN][1000 genomes]
rs5997762	0.90[ASN][1000 genomes]
rs61537428	0.87[ASN][1000 genomes]
rs62235892	0.84[ASN][1000 genomes]
rs7292017	0.81[ASN][1000 genomes]
rs8184976	0.87[ASN][1000 genomes]
rs909705	0.84[ASN][1000 genomes]
rs926340	0.97[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:28 , 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	chr22:31148600-31151800	Enhancers	HSMMtube	muscle
8	chr22:31148800-31151400	Enhancers	NHDF-Ad	bronchial
9	chr22:31149000-31151600	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr22:31149000-31151600	Enhancers	Brain Cingulate Gyrus	brain
11	chr22:31149200-31151600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr22:31149200-31151600	Enhancers	Brain Angular Gyrus	brain
13	chr22:31149400-31151400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr22:31149400-31151400	Enhancers	Brain Anterior Caudate	brain
15	chr22:31149400-31151400	Enhancers	Brain Hippocampus Middle	brain
16	chr22:31149400-31151400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr22:31149400-31151600	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr22:31149800-31151400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr22:31149800-31151400	Enhancers	Duodenum Mucosa	Duodenum
20	chr22:31149800-31151400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr22:31150000-31173400	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr22:31150800-31152800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr22:31150800-31154000	Weak transcription	Fetal Heart	heart
24	chr22:31151000-31151600	Enhancers	HUVEC	blood vessel
25	chr22:31151200-31151400	Enhancers	Muscle Satellite Cultured Cells	--
26	chr22:31151200-31151800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr22:31151200-31162600	Weak transcription	Spleen	Spleen
28	chr22:31151200-31167600	Weak transcription	Brain Substantia Nigra	brain

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