Variant report

Variant	rs11930273
Chromosome Location	chr4:150901757-150901758
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:150901416..150902999-chr4:151138902..151140419,2	MCF-7	breast:
2	chr4:150901665..150902664-chr4:151788283..151788927,3	K562	blood:
3	chr4:150901753..150902293-chr4:151130654..151131156,2	K562	blood:
4	chr4:150900710..150903674-chr4:150904069..150906579,3	K562	blood:

Variant related genes	Relation type
ENSG00000238721	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10013404	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10034329	0.97[ASN][1000 genomes]
rs11099747	0.92[ASN][1000 genomes]
rs12501192	0.90[ASN][1000 genomes]
rs12509750	0.92[ASN][1000 genomes]
rs12648580	0.92[ASN][1000 genomes]
rs1505462	0.92[ASN][1000 genomes]
rs28454595	0.87[ASN][1000 genomes]
rs28521579	0.97[ASN][1000 genomes]
rs28595304	0.87[ASN][1000 genomes]
rs28654755	0.85[ASN][1000 genomes]
rs28656199	0.86[ASN][1000 genomes]
rs4287986	0.86[ASN][1000 genomes]
rs4496562	0.87[ASN][1000 genomes]
rs4501203	0.86[ASN][1000 genomes]
rs4622979	0.86[ASN][1000 genomes]
rs58299998	0.93[ASN][1000 genomes]
rs59184760	0.86[ASN][1000 genomes]
rs59993434	0.86[ASN][1000 genomes]
rs60170443	0.86[ASN][1000 genomes]
rs62340708	1.00[ASN][1000 genomes]
rs72951641	0.93[ASN][1000 genomes]
rs72969447	0.92[ASN][1000 genomes]
rs72969464	0.92[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	nsv1026797	chr4:150246932-151217137	Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1016169	chr4:150670127-150903827	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv537299	chr4:150670127-150903827	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv932022	chr4:150831733-151419552	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv830111	chr4:150867357-151035556	Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv530158	chr4:150877557-151040992	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	esv1006678	chr4:150901108-150907557	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

Variant related diseases (count:1)

Disease	PMID	Source
Visceral adipose tissue adjusted for BMI	22589738	GWAS catalog

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:150900800-150903800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr4:150901000-150901800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr4:150901000-150902800	Enhancers	Fetal Kidney	kidney
4	chr4:150901400-150901800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr4:150901400-150902400	Enhancers	Rectal Smooth Muscle	rectum
6	chr4:150901400-150902400	Enhancers	NHDF-Ad	bronchial

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