Variant report

Variant	rs4637575
Chromosome Location	chr5:36305679-36305680
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr5:36305580-36305730	A549	lung:	n/a	n/a
2	CTCF	chr5:36305660-36306324	HCT-116	colon:	n/a	chr5:36306012-36306030
3	CTCF	chr5:36305364-36306415	SK-N-SH	brain:	n/a	chr5:36306012-36306030
4	MAFK	chr5:36305640-36306043	K562	blood:	n/a	chr5:36305830-36305850 chr5:36305830-36305841 chr5:36305832-36305848
5	RAD21	chr5:36305332-36306472	SK-N-SH	brain:	n/a	chr5:36306010-36306029 chr5:36305695-36305707
6	CTCF	chr5:36305660-36306221	IMR90	lung:	n/a	chr5:36306012-36306030
7	SMC3	chr5:36305558-36306425	SK-N-SH	brain:	n/a	chr5:36305695-36305705 chr5:36306014-36306028
8	RAD21	chr5:36305640-36306265	HCT-116	colon:	n/a	chr5:36306010-36306029 chr5:36305695-36305707
9	GATA2	chr5:36305614-36306079	SH-SY5Y	brain:	n/a	n/a
10	CTCF	chr5:36305665-36306405	A549	lung:	n/a	chr5:36306012-36306030
11	RAD21	chr5:36305612-36306257	HCT-116	colon:	n/a	chr5:36306010-36306029 chr5:36305695-36305707
12	MYC	chr5:36305596-36306171	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:36299305..36302119-chr5:36303803..36306796,2	MCF-7	breast:
2	chr5:36265246..36266228-chr5:36304794..36306080,5	MCF-7	breast:
3	chr5:36300989..36303714-chr5:36304161..36306308,2	K562	blood:
4	chr5:36264924..36266169-chr5:36305543..36306796,5	MCF-7	breast:
5	chr5:36303559..36305912-chr5:36335006..36337019,2	K562	blood:
6	chr5:36304671..36307590-chr5:36352019..36354377,2	K562	blood:
7	chr5:36264942..36266198-chr5:36305526..36306277,3	K562	blood:
8	chr5:36303763..36306524-chr5:36340085..36342661,2	K562	blood:
9	chr5:36178162..36178735-chr5:36305590..36306300,3	K562	blood:
10	chr5:36191769..36193419-chr5:36303585..36306206,2	MCF-7	breast:
11	chr5:36214270..36215002-chr5:36305580..36306511,2	MCF-7	breast:
12	chr5:36079420..36080143-chr5:36305549..36306363,3	K562	blood:
13	chr5:36305622..36307546-chr5:36327983..36330095,2	MCF-7	breast:
14	chr5:36177839..36178745-chr5:36305538..36306436,7	MCF-7	breast:
15	chr5:35963329..35964059-chr5:36305604..36306431,3	K562	blood:

Variant related genes	Relation type
RANBP3L	TF binding region
ENSG00000164188	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10042551	0.95[CEU][hapmap];0.94[TSI][hapmap];0.86[EUR][1000 genomes]
rs1392454	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1392456	0.95[EUR][1000 genomes]
rs1827198	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28792437	0.84[EUR][1000 genomes]
rs72744600	0.86[EUR][1000 genomes]
rs884692	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs884694	1.00[CEU][hapmap];0.82[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs952303	0.95[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs958929	0.95[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs990057	0.95[CEU][hapmap];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015638	chr5:36203646-36312576	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
2	nsv881598	chr5:36248752-36382802	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36301600-36305800	Weak transcription	Gastric	stomach
2	chr5:36302600-36305800	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr5:36302600-36305800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr5:36302600-36305800	Weak transcription	Fetal Kidney	kidney
5	chr5:36302800-36305800	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr5:36302800-36305800	Weak transcription	Small Intestine	intestine
7	chr5:36302800-36305800	Weak transcription	HSMM	muscle
8	chr5:36303000-36305800	Weak transcription	Adipose Nuclei	Adipose
9	chr5:36303000-36305800	Weak transcription	Brain Substantia Nigra	brain
10	chr5:36303000-36305800	Weak transcription	Stomach Smooth Muscle	stomach
11	chr5:36303000-36305800	Weak transcription	Hela-S3	cervix
12	chr5:36303000-36305800	Weak transcription	Osteobl	bone
13	chr5:36304200-36306000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr5:36304200-36306200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr5:36304400-36308400	Enhancers	Liver	Liver
16	chr5:36304800-36305800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr5:36305000-36310400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr5:36305400-36306400	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr5:36305400-36306600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr5:36305600-36305800	Enhancers	Fetal Heart	heart
21	chr5:36305600-36305800	Enhancers	Right Atrium	heart
22	chr5:36305600-36306000	Enhancers	Muscle Satellite Cultured Cells	--
23	chr5:36305600-36306000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr5:36305600-36306000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr5:36305600-36306000	Enhancers	Brain Angular Gyrus	brain
26	chr5:36305600-36306000	Enhancers	Duodenum Mucosa	Duodenum
27	chr5:36305600-36306000	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr5:36305600-36306000	Enhancers	Pancreatic Islets	Pancreatic Islet
29	chr5:36305600-36306000	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr5:36305600-36306000	Enhancers	NH-A	brain
31	chr5:36305600-36306000	Enhancers	NHDF-Ad	bronchial
32	chr5:36305600-36306000	Enhancers	NHLF	lung
33	chr5:36305600-36306200	Enhancers	Aorta	Aorta
34	chr5:36305600-36306200	Enhancers	Brain Cingulate Gyrus	brain
35	chr5:36305600-36306200	Enhancers	Brain Germinal Matrix	brain
36	chr5:36305600-36306200	Enhancers	Colon Smooth Muscle	Colon
37	chr5:36305600-36306200	Enhancers	Fetal Lung	lung
38	chr5:36305600-36306200	Enhancers	Rectal Smooth Muscle	rectum
39	chr5:36305600-36306400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr5:36305600-36306400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr5:36305600-36306600	Enhancers	Ovary	ovary

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