Variant report

Variant	rs4455482
Chromosome Location	chr4:56245862-56245863
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:56245848-56245866	MCF10A-Er-Src	breast:	n/a	n/a
2	SIN3AK20	chr4:56245114-56245920	MCF-7	breast:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:56211308..56214746-chr4:56245753..56253172,10	K562	blood:
2	chr4:56212360..56213215-chr4:56245086..56246127,4	MCF-7	breast:
3	chr4:56240281..56248484-chr4:56258541..56264383,10	MCF-7	breast:
4	chr4:56243246..56246194-chr4:56252558..56255228,2	K562	blood:
5	chr4:56245158..56247160-chr4:56262133..56263862,2	K562	blood:
6	chr4:56232345..56235244-chr4:56243502..56246293,2	MCF-7	breast:
7	chr4:56245537..56248832-chr4:56260791..56264132,6	MCF-7	breast:

No data

Variant related genes	Relation type
SRD5A3-AS1	TF binding region
ENSG00000128039	Chromatin interaction
ENSG00000134851	Chromatin interaction
ENSG00000249700	Chromatin interaction
ENSG00000273257	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10010762	1.00[ASN][1000 genomes]
rs10021233	0.98[ASN][1000 genomes]
rs10024928	1.00[ASN][1000 genomes]
rs13132806	0.85[EUR][1000 genomes]
rs13133010	0.85[EUR][1000 genomes]
rs13138693	0.85[EUR][1000 genomes]
rs13150620	0.85[EUR][1000 genomes]
rs17776975	0.84[ASN][1000 genomes]
rs1818460	0.89[ASN][1000 genomes]
rs1818461	0.84[ASN][1000 genomes]
rs2538	0.82[ASN][1000 genomes]
rs3087606	0.95[ASN][1000 genomes]
rs34459388	0.83[EUR][1000 genomes]
rs4089487	0.84[ASN][1000 genomes]
rs475465	1.00[ASN][1000 genomes]
rs476184	1.00[ASN][1000 genomes]
rs482114	0.95[ASN][1000 genomes]
rs483978	0.95[ASN][1000 genomes]
rs496055	1.00[ASN][1000 genomes]
rs499110	1.00[ASN][1000 genomes]
rs525271	1.00[ASN][1000 genomes]
rs552792	1.00[ASN][1000 genomes]
rs552950	1.00[ASN][1000 genomes]
rs556072	1.00[ASN][1000 genomes]
rs56139168	0.84[ASN][1000 genomes]
rs572428	0.95[ASN][1000 genomes]
rs572553	0.95[ASN][1000 genomes]
rs573960	0.82[ASN][1000 genomes]
rs576732	0.82[ASN][1000 genomes]
rs58176292	0.88[ASN][1000 genomes]
rs58506276	1.00[ASN][1000 genomes]
rs59648459	0.91[ASN][1000 genomes]
rs60097207	0.84[ASN][1000 genomes]
rs62303681	0.84[ASN][1000 genomes]
rs62305114	0.85[EUR][1000 genomes]
rs62305200	1.00[ASN][1000 genomes]
rs62305201	0.98[ASN][1000 genomes]
rs62305202	0.98[ASN][1000 genomes]
rs62305206	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62306207	1.00[ASN][1000 genomes]
rs693367	0.95[ASN][1000 genomes]
rs819203	0.98[ASN][1000 genomes]
rs819270	0.82[ASN][1000 genomes]
rs861029	1.00[ASN][1000 genomes]
rs880358	0.84[ASN][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:29 , 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	chr4:56240800-56247400	Weak transcription	Brain Angular Gyrus	brain
14	chr4:56243800-56247600	Weak transcription	Brain Cingulate Gyrus	brain
15	chr4:56244000-56247800	Weak transcription	Brain Anterior Caudate	brain
16	chr4:56244200-56247400	Weak transcription	Brain Hippocampus Middle	brain
17	chr4:56244200-56247600	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr4:56244800-56246000	Enhancers	HMEC	breast
19	chr4:56244800-56246200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr4:56245000-56246000	Flanking Active TSS	A549	lung
21	chr4:56245200-56247400	Weak transcription	Brain Substantia Nigra	brain
22	chr4:56245400-56246000	Enhancers	K562	blood
23	chr4:56245400-56246200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr4:56245400-56246200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr4:56245600-56246200	Enhancers	Hela-S3	cervix
26	chr4:56245600-56246200	Enhancers	NHEK	skin
27	chr4:56245600-56248200	Enhancers	Duodenum Mucosa	Duodenum
28	chr4:56245800-56246200	Weak transcription	Fetal Intestine Small	intestine
29	chr4:56245800-56246600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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