Variant report

Variant	rs482114
Chromosome Location	chr4:56260888-56260889
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:56222050..56228109-chr4:56258616..56264786,10	MCF-7	breast:
2	chr4:56211148..56230966-chr4:56256626..56269458,54	MCF-7	breast:
3	chr4:56245537..56248832-chr4:56260791..56264132,6	MCF-7	breast:
4	chr4:56252554..56257772-chr4:56259709..56263846,8	MCF-7	breast:
5	chr4:56211096..56216124-chr4:56256262..56265067,20	K562	blood:
6	chr4:56211242..56218739-chr4:56258356..56267013,28	MCF-7	breast:
7	chr4:56211281..56215987-chr4:56257992..56268538,18	K562	blood:
8	chr4:56248184..56250642-chr4:56260280..56262635,2	K562	blood:
9	chr4:56240281..56248484-chr4:56258541..56264383,10	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000273257	Chromatin interaction
ENSG00000251111	Chromatin interaction
ENSG00000128039	Chromatin interaction
ENSG00000249700	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	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10021233	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10024928	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10462028	0.84[AMR][1000 genomes]
rs17776975	0.89[ASN][1000 genomes]
rs1818460	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2538	0.82[AMR][1000 genomes]
rs28609134	0.82[AMR][1000 genomes]
rs3087606	1.00[ASN][1000 genomes]
rs4455482	0.95[ASN][1000 genomes]
rs475465	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs476184	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs483978	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs496055	0.83[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs499110	0.83[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs525271	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs550144	0.82[ASN][1000 genomes]
rs552792	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs552950	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs556072	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56139168	0.89[ASN][1000 genomes]
rs572428	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs572553	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs573960	0.82[AMR][1000 genomes]
rs576732	0.82[AMR][1000 genomes]
rs58176292	0.93[ASN][1000 genomes]
rs58506276	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59648459	0.96[ASN][1000 genomes]
rs60097207	0.89[ASN][1000 genomes]
rs62303681	0.89[ASN][1000 genomes]
rs62303685	0.82[ASN][1000 genomes]
rs62305200	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62305201	0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs62305202	0.80[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs62305206	0.96[ASN][1000 genomes]
rs62306207	0.83[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs693367	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs819203	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs819266	0.82[AMR][1000 genomes]
rs819267	0.82[AMR][1000 genomes]
rs819268	0.82[AMR][1000 genomes]
rs819269	0.82[AMR][1000 genomes]
rs819270	0.82[AMR][1000 genomes]
rs861029	0.95[ASN][1000 genomes]
rs880358	0.89[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:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56233200-56261600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:56248200-56261400	Weak transcription	Aorta	Aorta
3	chr4:56249200-56261200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr4:56252400-56261600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr4:56254000-56261400	Weak transcription	Fetal Thymus	thymus
6	chr4:56256000-56261200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr4:56256400-56261400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr4:56257600-56261400	Weak transcription	Pancreas	Pancrea
9	chr4:56257800-56261200	Weak transcription	Fetal Intestine Small	intestine
10	chr4:56259200-56261200	Enhancers	Brain Anterior Caudate	brain
11	chr4:56259400-56261000	Enhancers	K562	blood
12	chr4:56259400-56261200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr4:56259400-56261200	Enhancers	Brain Hippocampus Middle	brain
14	chr4:56259400-56261400	Enhancers	Brain Cingulate Gyrus	brain
15	chr4:56259400-56261600	Enhancers	Stomach Mucosa	stomach
16	chr4:56259600-56261200	Enhancers	HepG2	liver
17	chr4:56259600-56261400	Enhancers	A549	lung
18	chr4:56259800-56261200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr4:56259800-56261400	Weak transcription	Lung	lung
20	chr4:56260000-56261200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr4:56260000-56261200	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr4:56260000-56261200	Weak transcription	NHDF-Ad	bronchial
23	chr4:56260000-56261400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr4:56260000-56261400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr4:56260000-56261600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr4:56260200-56261200	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr4:56260200-56261200	Weak transcription	Brain Angular Gyrus	brain
28	chr4:56260200-56261200	Weak transcription	GM12878-XiMat	blood
29	chr4:56260200-56261200	Weak transcription	NHLF	lung
30	chr4:56260200-56261200	Weak transcription	Osteobl	bone
31	chr4:56260200-56261400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr4:56260200-56261400	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr4:56260400-56261200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr4:56260400-56261400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr4:56260600-56261000	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr4:56260800-56261000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr4:56260800-56261200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr4:56260800-56261400	Weak transcription	Brain Substantia Nigra	brain

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