Variant report

Variant	rs62395253
Chromosome Location	chr5:178989003-178989004
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	MAFK	chr5:178988991-178989115	HepG2	liver:	n/a	chr5:178989030-178989045
2	MAFK	chr5:178988982-178989089	HepG2	liver:	n/a	chr5:178989030-178989045

No.	Distal block	Cell Line	Cell type
1	chr5:178984558..178987542-chr5:178988263..178990973,3	K562	blood:
2	chr5:178984205..178987569-chr5:178988108..178992792,6	MCF-7	breast:
3	chr5:178975801..178977799-chr5:178987617..178990258,3	K562	blood:
4	chr5:178976299..178979036-chr5:178987617..178989903,2	K562	blood:

Variant related genes	Relation type
RUFY1	TF binding region
ENSG00000176783	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs4524469	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6877888	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6892293	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6894242	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7443003	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7705990	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817413	chr5:178415365-179020558	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	esv2758031	chr5:178661266-179037529	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
3	esv2759397	chr5:178661266-179037529	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
4	nsv531996	chr5:178669297-178989687	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
5	esv2829850	chr5:178828854-179060995	Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
6	nsv949554	chr5:178832325-179309513	Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
7	nsv1022509	chr5:178950829-179002751	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	nsv883269	chr5:178951106-179031595	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
9	nsv883270	chr5:178951106-179350387	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
10	nsv1015477	chr5:178954409-179016804	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
11	nsv883271	chr5:178955046-179031595	Strong transcription Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
12	nsv883272	chr5:178961872-179031595	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
13	nsv1028236	chr5:178962087-179019981	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178981200-178996200	Weak transcription	K562	blood
2	chr5:178986400-179000400	Strong transcription	Dnd41	blood
3	chr5:178987200-178989200	Weak transcription	Aorta	Aorta
4	chr5:178987200-178989400	Weak transcription	Primary T cells from cord blood	blood
5	chr5:178987200-178989600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr5:178987200-178995800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr5:178987200-179040800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr5:178987400-178989200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr5:178987400-178989200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr5:178987400-178989200	Weak transcription	Fetal Thymus	thymus
11	chr5:178987400-178989200	Weak transcription	Ovary	ovary
12	chr5:178987400-178989200	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr5:178987400-178989400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr5:178987400-178989400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr5:178987400-178989400	Weak transcription	Primary B cells from cord blood	blood
16	chr5:178987400-178989400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr5:178987400-178989400	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr5:178987400-178989400	Weak transcription	Brain Substantia Nigra	brain
19	chr5:178987400-178989400	Weak transcription	Colon Smooth Muscle	Colon
20	chr5:178987400-178989400	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr5:178987400-178989400	Weak transcription	Left Ventricle	heart
22	chr5:178987400-178989400	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr5:178987400-178989400	Weak transcription	HSMM	muscle
24	chr5:178987400-178989400	Weak transcription	HSMMtube	muscle
25	chr5:178987400-178989400	Weak transcription	NH-A	brain
26	chr5:178987400-178989600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr5:178987400-178989600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr5:178987400-178989600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr5:178987400-178989600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr5:178987400-178989600	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr5:178987400-178989600	Weak transcription	Brain Cingulate Gyrus	brain
32	chr5:178987400-178989600	Weak transcription	Duodenum Mucosa	Duodenum
33	chr5:178987400-178989600	Weak transcription	Fetal Kidney	kidney
34	chr5:178987400-178989600	Weak transcription	Fetal Lung	lung
35	chr5:178987400-178989600	Weak transcription	Right Ventricle	heart
36	chr5:178987400-178989600	Weak transcription	Small Intestine	intestine
37	chr5:178987400-178989600	Weak transcription	Stomach Mucosa	stomach
38	chr5:178987400-178989600	Weak transcription	Thymus	Thymus
39	chr5:178987400-178989600	Weak transcription	GM12878-XiMat	blood
40	chr5:178987400-178989600	Weak transcription	Hela-S3	cervix
41	chr5:178987400-178989800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr5:178987400-178989800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr5:178987400-178989800	Weak transcription	Colonic Mucosa	Colon
44	chr5:178987400-178989800	Weak transcription	Gastric	stomach
45	chr5:178987400-178989800	Weak transcription	Pancreas	Pancrea
46	chr5:178987400-178989800	Weak transcription	Spleen	Spleen
47	chr5:178987400-178990400	Weak transcription	Psoas Muscle	Psoas
48	chr5:178987400-178993800	Weak transcription	Esophagus	oesophagus
49	chr5:178987400-178995600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr5:178987400-178995800	Weak transcription	Fetal Heart	heart

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