Variant report

Variant	rs5752975
Chromosome Location	chr22:30274335-30274336
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:30265481..30267590-chr22:30272869..30274738,2	MCF-7	breast:
2	chr22:30267624..30270362-chr22:30273098..30276358,3	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs1076135	0.82[CEU][hapmap]
rs12710565	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs140145	0.85[CEU][hapmap]
rs140147	0.92[CEU][hapmap]
rs140149	0.85[CEU][hapmap]
rs1807508	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1807513	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1989870	0.92[CEU][hapmap]
rs2007446	0.92[CEU][hapmap]
rs2007458	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2189802	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3747149	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3747150	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3788420	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3958027	0.80[EUR][1000 genomes]
rs41159	0.82[EUR][1000 genomes]
rs41165	1.00[CEU][hapmap]
rs41168	0.92[CEU][hapmap]
rs41171	0.93[CEU][hapmap]
rs41173	0.93[CEU][hapmap]
rs4630869	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4820824	0.86[ASN][1000 genomes]
rs55805200	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5752964	0.81[CEU][hapmap]
rs5752973	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5752978	0.96[CEU][hapmap];0.88[EUR][1000 genomes]
rs5752992	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5763559	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5763565	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5763581	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5763589	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5763591	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5763614	0.82[EUR][1000 genomes]
rs5763638	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5763645	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5763646	0.84[ASN][1000 genomes]
rs5763649	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5763650	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5763651	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5763671	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5763688	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5997546	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5997549	0.89[EUR][1000 genomes]
rs6006288	0.89[EUR][1000 genomes]
rs6006300	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7289604	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs737908	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs737911	0.89[CEU][hapmap]
rs737939	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9306468	0.93[CEU][hapmap]
rs960987	0.82[EUR][1000 genomes]
rs9614077	0.80[EUR][1000 genomes]
rs9614100	0.81[EUR][1000 genomes]
rs997913	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529742	chr22:29677909-30274388	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	esv1829662	chr22:30171725-30304390	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	esv1829425	chr22:30184378-30297376	Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	esv1851082	chr22:30253256-30294744	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	esv1833221	chr22:30274129-30297376	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30268800-30277800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr22:30268800-30279000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr22:30269000-30278800	Weak transcription	Adipose Nuclei	Adipose
4	chr22:30270200-30279200	Weak transcription	Spleen	Spleen
5	chr22:30273400-30274400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr22:30273600-30274400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr22:30273600-30274400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr22:30273600-30274400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr22:30273600-30274400	Bivalent Enhancer	NHDF-Ad	bronchial
10	chr22:30273800-30274400	Enhancers	Muscle Satellite Cultured Cells	--
11	chr22:30273800-30274400	Enhancers	HSMM	muscle
12	chr22:30274000-30278800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr22:30274200-30274400	Enhancers	Osteobl	bone

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