Variant report

Variant	rs11724300
Chromosome Location	chr4:56247432-56247433
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:56209741..56214746-chr4:56246986..56251789,8	K562	blood:
2	chr4:56211308..56214746-chr4:56245753..56253172,10	K562	blood:
3	chr4:56240281..56248484-chr4:56258541..56264383,10	MCF-7	breast:
4	chr4:56246727..56248649-chr4:56813928..56816601,2	K562	blood:
5	chr4:56246775..56248622-chr4:56253097..56255094,2	MCF-7	breast:
6	chr4:56245537..56248832-chr4:56260791..56264132,6	MCF-7	breast:
7	chr4:56246818..56249093-chr4:56250020..56252350,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000249700	Chromatin interaction
ENSG00000273257	Chromatin interaction
ENSG00000174799	Chromatin interaction
ENSG00000128039	Chromatin interaction
ENSG00000134851	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10013154	0.85[EUR][1000 genomes]
rs10026202	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10031345	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11722277	1.00[AFR][1000 genomes]
rs11722415	1.00[AFR][1000 genomes]
rs11723580	1.00[AFR][1000 genomes]
rs11725081	1.00[AFR][1000 genomes]
rs11725422	1.00[AFR][1000 genomes]
rs11725439	1.00[AFR][1000 genomes]
rs11725592	1.00[AFR][1000 genomes]
rs11727642	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11729092	1.00[AFR][1000 genomes]
rs11729403	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs11732078	1.00[AFR][1000 genomes]
rs11732684	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11733959	1.00[AFR][1000 genomes]
rs11733966	1.00[AFR][1000 genomes]
rs1522113	1.00[AFR][1000 genomes]
rs28375967	0.85[EUR][1000 genomes]
rs28391333	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28409498	1.00[AFR][1000 genomes]
rs28450557	1.00[AFR][1000 genomes]
rs28588862	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28653645	0.85[EUR][1000 genomes]
rs28873832	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34101807	0.85[AMR][1000 genomes]
rs34897046	1.00[AFR][1000 genomes]
rs35133040	1.00[AFR][1000 genomes]
rs35793438	1.00[AFR][1000 genomes]
rs7356345	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3328582	chr4:56164136-56486156	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv999477	chr4:56219035-56397180	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv537101	chr4:56219035-56397180	Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56213800-56251400	Weak transcription	Pancreas	Pancrea
2	chr4:56214400-56247600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr4:56228400-56251000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr4:56232000-56247600	Weak transcription	Spleen	Spleen
5	chr4:56233200-56261600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:56235800-56247600	Weak transcription	Aorta	Aorta
7	chr4:56236400-56248400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr4:56237000-56247800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr4:56237200-56247800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr4:56239800-56251400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr4:56240200-56249400	Weak transcription	Left Ventricle	heart
12	chr4:56240400-56259600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr4:56243800-56247600	Weak transcription	Brain Cingulate Gyrus	brain
14	chr4:56244000-56247800	Weak transcription	Brain Anterior Caudate	brain
15	chr4:56244200-56247600	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr4:56245600-56248200	Enhancers	Duodenum Mucosa	Duodenum
17	chr4:56246200-56248200	Enhancers	Fetal Intestine Small	intestine
18	chr4:56246200-56251400	Weak transcription	Hela-S3	cervix
19	chr4:56246400-56248400	Enhancers	HepG2	liver
20	chr4:56247400-56247800	Enhancers	Brain Angular Gyrus	brain
21	chr4:56247400-56248200	Enhancers	K562	blood
22	chr4:56247400-56248400	Enhancers	Brain Hippocampus Middle	brain
23	chr4:56247400-56248400	Enhancers	Brain Substantia Nigra	brain

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