Variant report

Variant	rs136345
Chromosome Location	chr22:31148727-31148728
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	chr22:31089544..31092653-chr22:31148540..31151696,3	MCF-7	breast:
2	chr22:31147020..31149382-chr22:31151081..31153329,2	K562	blood:

Variant related genes	Relation type
ENSG00000184792	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs11913875	0.81[ASN][1000 genomes]
rs12483846	0.81[ASN][1000 genomes]
rs12484930	0.81[ASN][1000 genomes]
rs136316	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs136317	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs136337	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs136339	0.81[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs136340	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs136343	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs136344	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs136346	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[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]
rs9609077	0.87[YRI][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	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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31115600-31149400	Weak transcription	Brain Hippocampus Middle	brain
2	chr22:31129000-31149400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr22:31129000-31149400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr22:31134600-31148800	Weak transcription	NHDF-Ad	bronchial
5	chr22:31136000-31151600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr22:31136200-31148800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr22:31137600-31153000	Weak transcription	Gastric	stomach
8	chr22:31137800-31148800	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr22:31137800-31149000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr22:31139200-31149200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr22:31139200-31149400	Weak transcription	Brain Anterior Caudate	brain
12	chr22:31139400-31150200	Weak transcription	Brain Substantia Nigra	brain
13	chr22:31139600-31160000	Weak transcription	Brain Germinal Matrix	brain
14	chr22:31140000-31185400	Weak transcription	Fetal Brain Female	brain
15	chr22:31140400-31149000	Weak transcription	Brain Cingulate Gyrus	brain
16	chr22:31145200-31149200	Weak transcription	Brain Angular Gyrus	brain
17	chr22:31146200-31149800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr22:31146200-31152800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr22:31146400-31149800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr22:31148000-31150600	Enhancers	HSMM	muscle
21	chr22:31148200-31149000	Weak transcription	Placenta	Placenta
22	chr22:31148200-31149200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr22:31148200-31149400	Weak transcription	Spleen	Spleen
24	chr22:31148200-31155800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr22:31148600-31149800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr22:31148600-31150800	Enhancers	Fetal Heart	heart
27	chr22:31148600-31151800	Enhancers	HSMMtube	muscle

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