Variant report

Variant	rs499110
Chromosome Location	chr4:56247795-56247796
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAL1	chr4:56247480-56247860	K562	blood:	n/a	n/a
2	BHLHE40	chr4:56247617-56247866	K562	blood:	n/a	n/a
3	SMC3	chr4:56247774-56247862	HepG2	liver:	n/a	n/a
4	BACH1	chr4:56247694-56247823	H1-hESC	embryonic stem cell:	n/a	n/a
5	RCOR1	chr4:56247777-56247877	HepG2	liver:	n/a	n/a
6	CTCF	chr4:56247780-56247930	HepG2	liver:	n/a	n/a
7	MYC	chr4:56247645-56247953	K562	blood:	n/a	n/a
8	MYC	chr4:56247756-56247890	K562	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:56247536..56249762-chr4:56263632..56266279,3	K562	blood:
2	chr4:56209741..56214746-chr4:56246986..56251789,8	K562	blood:
3	chr4:56211308..56214746-chr4:56245753..56253172,10	K562	blood:
4	chr4:56240281..56248484-chr4:56258541..56264383,10	MCF-7	breast:
5	chr4:56246727..56248649-chr4:56813928..56816601,2	K562	blood:
6	chr4:56246775..56248622-chr4:56253097..56255094,2	MCF-7	breast:
7	chr4:56245537..56248832-chr4:56260791..56264132,6	MCF-7	breast:
8	chr4:56246818..56249093-chr4:56250020..56252350,3	MCF-7	breast:

No data

Variant related genes	Relation type
SRD5A3-AS1	TF binding region
ENSG00000134851	Chromatin interaction
ENSG00000273257	Chromatin interaction
ENSG00000128039	Chromatin interaction
ENSG00000174799	Chromatin interaction
ENSG00000249700	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10010762	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10021233	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10024928	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17776975	0.84[ASN][1000 genomes]
rs1818460	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1818461	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2538	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28609134	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3087606	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4089487	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4455482	1.00[ASN][1000 genomes]
rs475465	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs476184	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs482114	0.83[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs483978	0.84[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs496055	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs525271	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs552792	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs552950	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs556072	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56139168	0.84[ASN][1000 genomes]
rs572428	0.95[ASN][1000 genomes]
rs572553	0.84[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs573960	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs576732	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs58176292	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58506276	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59648459	0.91[ASN][1000 genomes]
rs60097207	0.84[ASN][1000 genomes]
rs62303681	0.84[ASN][1000 genomes]
rs62305200	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62305201	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62305202	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62305206	0.98[ASN][1000 genomes]
rs62306207	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6554275	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs693367	0.95[ASN][1000 genomes]
rs7340797	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs819203	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs819266	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs819267	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs819268	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs819269	0.82[AMR][1000 genomes]
rs819270	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs861029	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs880358	0.84[ASN][1000 genomes]
rs9312660	0.87[AMR][1000 genomes];0.88[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	chr4:56228400-56251000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr4:56233200-56261600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:56236400-56248400	Weak transcription	Primary hematopoietic stem cells	blood
5	chr4:56237000-56247800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr4:56237200-56247800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr4:56239800-56251400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr4:56240200-56249400	Weak transcription	Left Ventricle	heart
9	chr4:56240400-56259600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr4:56244000-56247800	Weak transcription	Brain Anterior Caudate	brain
11	chr4:56245600-56248200	Enhancers	Duodenum Mucosa	Duodenum
12	chr4:56246200-56248200	Enhancers	Fetal Intestine Small	intestine
13	chr4:56246200-56251400	Weak transcription	Hela-S3	cervix
14	chr4:56246400-56248400	Enhancers	HepG2	liver
15	chr4:56247400-56247800	Enhancers	Brain Angular Gyrus	brain
16	chr4:56247400-56248200	Enhancers	K562	blood
17	chr4:56247400-56248400	Enhancers	Brain Hippocampus Middle	brain
18	chr4:56247400-56248400	Enhancers	Brain Substantia Nigra	brain
19	chr4:56247600-56247800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr4:56247600-56248000	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr4:56247600-56248000	Enhancers	Spleen	Spleen
22	chr4:56247600-56248200	Strong transcription	Aorta	Aorta
23	chr4:56247600-56248400	Enhancers	Brain Cingulate Gyrus	brain

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