Variant report

Variant	rs62373923
Chromosome Location	chr5:90562518-90562519
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	ATF3	chr5:90562065-90562543	K562	blood:	n/a	n/a
2	FOS	chr5:90562094-90562602	MCF10A-Er-Src	breast:	n/a	chr5:90562317-90562329 chr5:90562319-90562327 chr5:90562320-90562327 chr5:90562318-90562328 chr5:90562317-90562328 chr5:90562319-90562328 chr5:90562481-90562493
3	ATF2	chr5:90562165-90562539	GM12878	blood:	n/a	n/a
4	JUND	chr5:90562159-90562519	HepG2	liver:	n/a	chr5:90562317-90562329 chr5:90562319-90562327 chr5:90562320-90562327 chr5:90562318-90562328 chr5:90562319-90562328 chr5:90562481-90562493 chr5:90562317-90562328
5	FOSL2	chr5:90561997-90562549	A549	lung:	n/a	chr5:90562317-90562329 chr5:90562319-90562327 chr5:90562320-90562327 chr5:90562318-90562328 chr5:90562319-90562328 chr5:90562481-90562493
6	JUND	chr5:90561911-90562694	HCT-116	colon:	n/a	chr5:90562317-90562329 chr5:90562319-90562327 chr5:90562320-90562327 chr5:90562318-90562328 chr5:90562319-90562328 chr5:90562481-90562493 chr5:90562317-90562328
7	MEF2A	chr5:90562095-90562579	K562	blood:	n/a	chr5:90562330-90562351 chr5:90562336-90562347 chr5:90562337-90562346 chr5:90562252-90562267 chr5:90562332-90562353 chr5:90562332-90562353 chr5:90562330-90562351 chr5:90562334-90562350 chr5:90562330-90562351 chr5:90562334-90562349 chr5:90562333-90562348 chr5:90562333-90562349
8	FOS	chr5:90562107-90562614	MCF10A-Er-Src	breast:	n/a	chr5:90562317-90562329 chr5:90562319-90562327 chr5:90562320-90562327 chr5:90562318-90562328 chr5:90562317-90562328 chr5:90562319-90562328 chr5:90562481-90562493
9	MEF2A	chr5:90562025-90562576	GM12878	blood:	n/a	chr5:90562330-90562351 chr5:90562336-90562347 chr5:90562337-90562346 chr5:90562252-90562267 chr5:90562332-90562353 chr5:90562332-90562353 chr5:90562330-90562351 chr5:90562334-90562350 chr5:90562330-90562351 chr5:90562334-90562349 chr5:90562333-90562348 chr5:90562333-90562349
10	RUNX3	chr5:90562124-90562546	GM12878	blood:	n/a	n/a
11	JUND	chr5:90562008-90562538	SK-N-SH	brain:	n/a	chr5:90562317-90562329 chr5:90562319-90562327 chr5:90562320-90562327 chr5:90562318-90562328 chr5:90562319-90562328 chr5:90562481-90562493 chr5:90562317-90562328
12	MEF2A	chr5:90562032-90562689	SK-N-SH	brain:	n/a	chr5:90562330-90562351 chr5:90562336-90562347 chr5:90562337-90562346 chr5:90562252-90562267 chr5:90562332-90562353 chr5:90562332-90562353 chr5:90562330-90562351 chr5:90562334-90562350 chr5:90562330-90562351 chr5:90562334-90562349 chr5:90562333-90562348 chr5:90562333-90562349
13	MEF2A	chr5:90562027-90562624	SK-N-SH	brain:	n/a	chr5:90562330-90562351 chr5:90562336-90562347 chr5:90562337-90562346 chr5:90562252-90562267 chr5:90562332-90562353 chr5:90562332-90562353 chr5:90562330-90562351 chr5:90562334-90562350 chr5:90562330-90562351 chr5:90562334-90562349 chr5:90562333-90562348 chr5:90562333-90562349
14	STAT3	chr5:90562247-90562533	MCF10A-Er-Src	breast:	n/a	chr5:90562318-90562327 chr5:90562319-90562328
15	MEF2C	chr5:90562038-90562654	GM12878	blood:	n/a	chr5:90562330-90562351 chr5:90562336-90562347 chr5:90562337-90562346 chr5:90562252-90562267 chr5:90562332-90562353 chr5:90562332-90562353 chr5:90562330-90562351 chr5:90562334-90562350 chr5:90562330-90562351 chr5:90562334-90562349 chr5:90562333-90562349
16	JUN	chr5:90561724-90563017	K562	blood:	n/a	chr5:90562317-90562329 chr5:90562319-90562327 chr5:90562320-90562327 chr5:90562318-90562328 chr5:90562319-90562328 chr5:90562481-90562493
17	FOSL1	chr5:90562002-90562580	HCT-116	colon:	n/a	chr5:90562317-90562329 chr5:90562319-90562327 chr5:90562320-90562327 chr5:90562318-90562328 chr5:90562319-90562328 chr5:90562481-90562493
18	JUND	chr5:90561910-90562571	SK-N-SH	brain:	n/a	chr5:90562317-90562329 chr5:90562319-90562327 chr5:90562320-90562327 chr5:90562318-90562328 chr5:90562319-90562328 chr5:90562481-90562493 chr5:90562317-90562328
19	FOS	chr5:90562117-90562522	HUVEC	blood vessel:	n/a	chr5:90562317-90562329 chr5:90562319-90562327 chr5:90562320-90562327 chr5:90562318-90562328 chr5:90562317-90562328 chr5:90562319-90562328 chr5:90562481-90562493
20	MXI1	chr5:90562455-90562570	GM12878	blood:	n/a	n/a
21	ATF3	chr5:90562101-90562612	HCT-116	colon:	n/a	n/a
22	JUND	chr5:90561884-90562589	HCT-116	colon:	n/a	chr5:90562317-90562329 chr5:90562319-90562327 chr5:90562320-90562327 chr5:90562318-90562328 chr5:90562319-90562328 chr5:90562481-90562493 chr5:90562317-90562328
23	FOS	chr5:90562135-90562592	MCF10A-Er-Src	breast:	n/a	chr5:90562317-90562329 chr5:90562319-90562327 chr5:90562320-90562327 chr5:90562318-90562328 chr5:90562317-90562328 chr5:90562319-90562328 chr5:90562481-90562493
24	SP1	chr5:90561798-90562635	HCT-116	colon:	n/a	n/a
25	JUN	chr5:90562143-90562526	HUVEC	blood vessel:	n/a	chr5:90562317-90562329 chr5:90562319-90562327 chr5:90562320-90562327 chr5:90562318-90562328 chr5:90562319-90562328 chr5:90562481-90562493
26	NFIC	chr5:90562078-90562566	GM12878	blood:	n/a	n/a
27	FOSL1	chr5:90561793-90562602	HCT-116	colon:	n/a	chr5:90562317-90562329 chr5:90562319-90562327 chr5:90562320-90562327 chr5:90562318-90562328 chr5:90562319-90562328 chr5:90562481-90562493
28	JUND	chr5:90562043-90562585	GM12878	blood:	n/a	chr5:90562317-90562329 chr5:90562319-90562327 chr5:90562320-90562327 chr5:90562318-90562328 chr5:90562319-90562328 chr5:90562481-90562493 chr5:90562317-90562328
29	JUND	chr5:90561882-90562547	K562	blood:	n/a	chr5:90562317-90562329 chr5:90562319-90562327 chr5:90562320-90562327 chr5:90562318-90562328 chr5:90562319-90562328 chr5:90562481-90562493 chr5:90562317-90562328
30	MEF2A	chr5:90562130-90562580	GM12878	blood:	n/a	chr5:90562330-90562351 chr5:90562336-90562347 chr5:90562337-90562346 chr5:90562252-90562267 chr5:90562332-90562353 chr5:90562332-90562353 chr5:90562330-90562351 chr5:90562334-90562350 chr5:90562330-90562351 chr5:90562334-90562349 chr5:90562333-90562348 chr5:90562333-90562349
31	FOSL2	chr5:90562183-90562602	SK-N-SH	brain:	n/a	chr5:90562317-90562329 chr5:90562319-90562327 chr5:90562320-90562327 chr5:90562318-90562328 chr5:90562319-90562328 chr5:90562481-90562493
32	MEF2A	chr5:90562013-90562628	K562	blood:	n/a	chr5:90562330-90562351 chr5:90562336-90562347 chr5:90562337-90562346 chr5:90562252-90562267 chr5:90562332-90562353 chr5:90562332-90562353 chr5:90562330-90562351 chr5:90562334-90562350 chr5:90562330-90562351 chr5:90562334-90562349 chr5:90562333-90562348 chr5:90562333-90562349

No.	Distal block	Cell Line	Cell type
1	chr5:90559982..90565400-chr5:90570467..90573729,4	K562	blood:
2	chr5:90555805..90566288-chr5:90673548..90682139,22	K562	blood:
3	chr5:90562352..90564366-chr5:90565148..90567922,2	K562	blood:
4	chr5:90560937..90569122-chr5:90675177..90680484,12	K562	blood:

Variant related genes	Relation type
RNU4-90P	TF binding region
ENSG00000113369	Chromatin interaction
ENSG00000199643	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs72784689	1.00[ASN][1000 genomes]
rs72784700	1.00[ASN][1000 genomes]
rs72784702	1.00[ASN][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	nsv1024813	chr5:90321535-90870739	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	nsv537806	chr5:90321535-90870739	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90561000-90564800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:90561600-90562800	Enhancers	Colon Smooth Muscle	Colon
3	chr5:90561600-90562800	Enhancers	Duodenum Smooth Muscle	Duodenum
4	chr5:90561600-90562800	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr5:90561800-90562600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr5:90561800-90562600	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr5:90561800-90562800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr5:90561800-90562800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr5:90561800-90562800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr5:90561800-90562800	Enhancers	Muscle Satellite Cultured Cells	--
11	chr5:90561800-90562800	Enhancers	Fetal Heart	heart
12	chr5:90561800-90562800	Enhancers	Rectal Smooth Muscle	rectum
13	chr5:90561800-90562800	Enhancers	A549	lung
14	chr5:90561800-90562800	Enhancers	Hela-S3	cervix
15	chr5:90561800-90562800	Enhancers	NH-A	brain
16	chr5:90561800-90563000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr5:90562000-90562600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr5:90562000-90562600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr5:90562000-90562600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr5:90562000-90562600	Enhancers	NHLF	lung
21	chr5:90562000-90562800	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr5:90562000-90562800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr5:90562000-90562800	Enhancers	HSMM	muscle
24	chr5:90562000-90562800	Enhancers	HSMMtube	muscle
25	chr5:90562000-90562800	Enhancers	NHDF-Ad	bronchial
26	chr5:90562000-90562800	Enhancers	NHEK	skin
27	chr5:90562000-90562800	Enhancers	Osteobl	bone
28	chr5:90562000-90563000	Enhancers	HUVEC	blood vessel
29	chr5:90562200-90562600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr5:90562200-90562600	Enhancers	Primary T cells from cord blood	blood
31	chr5:90562200-90562600	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr5:90562200-90562600	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr5:90562200-90562800	Enhancers	GM12878-XiMat	blood
34	chr5:90562200-90564400	Weak transcription	Thymus	Thymus
35	chr5:90562200-90564600	Weak transcription	K562	blood
36	chr5:90562400-90564600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr5:90562400-90564600	Weak transcription	HMEC	breast

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