Variant report

Variant	rs566174278
Chromosome Location	chr5:179047500-179047501
allele	A/G
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	POLR2A	chr5:179046957-179049070	K562	blood:	n/a	n/a
2	POLR2A	chr5:179047206-179051952	GM12878	blood:	n/a	n/a
3	POLR2A	chr5:179047369-179047661	H1-hESC	embryonic stem cell:	n/a	n/a
4	USF1	chr5:179047265-179047637	SK-N-SH_RA	brain:	n/a	chr5:179047476-179047497 chr5:179047480-179047491
5	USF1	chr5:179047313-179047652	A549	lung:	n/a	chr5:179047476-179047497 chr5:179047480-179047491
6	USF1	chr5:179047307-179047633	K562	blood:	n/a	chr5:179047476-179047497 chr5:179047480-179047491
7	USF1	chr5:179047397-179047593	HepG2	liver:	n/a	chr5:179047476-179047497 chr5:179047480-179047491
8	USF1	chr5:179047292-179047601	H1-hESC	embryonic stem cell:	n/a	chr5:179047476-179047497 chr5:179047480-179047491
9	GATA1	chr5:179047367-179049842	PBDE	blood:	n/a	chr5:179049745-179049762
10	POLR2A	chr5:179047332-179047664	Hela-S3	cervix:	n/a	n/a
11	USF1	chr5:179047375-179047608	HepG2	liver:	n/a	chr5:179047476-179047497 chr5:179047480-179047491
12	POLR2A	chr5:179046881-179049431	K562	blood:	n/a	n/a
13	USF1	chr5:179047276-179047708	A549	lung:	n/a	chr5:179047476-179047497 chr5:179047480-179047491
14	POLR2A	chr5:179046685-179051229	HepG2	liver:	n/a	n/a
15	USF2	chr5:179047295-179047702	Hela-S3	cervix:	n/a	chr5:179047480-179047491 chr5:179047476-179047497
16	POLR2A	chr5:179047303-179047702	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr5:179046804-179051909	U87	brain:	n/a	n/a
18	USF1	chr5:179047285-179047589	H1-hESC	embryonic stem cell:	n/a	chr5:179047476-179047497 chr5:179047480-179047491
19	USF1	chr5:179047327-179047723	SK-N-SH_RA	brain:	n/a	chr5:179047476-179047497 chr5:179047480-179047491
20	POLR2A	chr5:179046855-179052674	HepG2	liver:	n/a	n/a
21	IRF1	chr5:179047338-179048348	K562	blood:	n/a	n/a
22	POLR2A	chr5:179047240-179052213	SK-N-MC	brain:	n/a	n/a
23	USF1	chr5:179047306-179047625	A549	lung:	n/a	chr5:179047476-179047497 chr5:179047480-179047491
24	POLR2A	chr5:179047285-179051399	PFSK-1	brain:	n/a	n/a
25	POLR2A	chr5:179047201-179051828	GM12878	blood:	n/a	n/a
26	POLR2A	chr5:179047352-179049277	HepG2	liver:	n/a	n/a
27	POLR2A	chr5:179039431-179049902	HepG2	liver:	n/a	n/a
28	POLR2A	chr5:179047348-179049252	IMR90	lung:	n/a	n/a
29	POLR2A	chr5:179047240-179049937	GM12892	blood:	n/a	n/a
30	CEBPB	chr5:179047319-179047703	Hela-S3	cervix:	n/a	chr5:179047501-179047518
31	POLR2A	chr5:179046826-179047513	HUVEC	blood vessel:	n/a	n/a
32	CEBPB	chr5:179047323-179047687	K562	blood:	n/a	chr5:179047501-179047518
33	USF1	chr5:179047291-179047673	ECC-1	luminal epithelium:	n/a	chr5:179047476-179047497 chr5:179047480-179047491
34	POLR2A	chr5:179047237-179052054	GM12892	blood:	n/a	n/a
35	POLR2A	chr5:179047170-179049231	U87	brain:	n/a	n/a
36	HEY1	chr5:179047244-179048508	HepG2	liver:	n/a	n/a
37	USF2	chr5:179047333-179047595	H1-hESC	embryonic stem cell:	n/a	chr5:179047480-179047491 chr5:179047476-179047497
38	POLR2A	chr5:179047240-179047606	HepG2	liver:	n/a	n/a
39	POLR2A	chr5:179047230-179049921	GM12891	blood:	n/a	n/a
40	POLR2A	chr5:179046790-179052167	PANC-1	pancreas:	n/a	n/a
41	TAL1	chr5:179047469-179051205	K562	blood:	n/a	n/a
42	POLR2A	chr5:179047254-179049075	GM12891	blood:	n/a	n/a
43	POLR2A	chr5:179046825-179047941	HUVEC	blood vessel:	n/a	n/a
44	USF1	chr5:179047318-179047694	SK-N-SH	brain:	n/a	chr5:179047476-179047497 chr5:179047480-179047491
45	HEY1	chr5:179047269-179047685	K562	blood:	n/a	n/a
46	POLR2A	chr5:179047292-179049924	GM12892	blood:	n/a	n/a
47	ATF2	chr5:179047366-179048473	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr5:179046078-179049406	GM12878	blood:	n/a	n/a
49	POLR2A	chr5:179047242-179047698	GM12891	blood:	n/a	n/a
50	POLR2A	chr5:179047421-179047656	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:179047278..179052613-chr5:179246048..179251997,13	K562	blood:
2	chr5:177631876..177633528-chr5:179047045..179049302,2	MCF-7	breast:
3	chr5:178975871..178983601-chr5:179047224..179052413,15	K562	blood:
4	chr5:179047327..179049016-chr5:179246235..179248894,2	MCF-7	breast:
5	chr5:178975440..178984076-chr5:179047224..179053131,17	K562	blood:
6	chr5:178976539..178978410-chr5:179046983..179049342,2	MCF-7	breast:
7	chr5:179045239..179052804-chr5:179123707..179130726,40	K562	blood:

Variant related genes	Relation type
HNRNPH1	TF binding region
ENSG00000127022	Chromatin interaction
ENSG00000161011	Chromatin interaction
ENSG00000197451	Chromatin interaction
ENSG00000176783	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	nsv830560	chr5:179039212-179175758	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
5	nsv883273	chr5:179045142-179086833	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	103 gene(s)	inside rSNPs	diseases
6	nsv823357	chr5:179046318-179058193	Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	101 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179041200-179048600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:179044400-179049400	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
3	chr5:179044400-179049800	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:179044400-179050600	Transcr. at gene 5' and 3'	Dnd41	blood
5	chr5:179044600-179049800	Transcr. at gene 5' and 3'	A549	lung
6	chr5:179044800-179049400	Transcr. at gene 5' and 3'	K562	blood
7	chr5:179044800-179049800	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
8	chr5:179044800-179049800	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr5:179045000-179051200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
10	chr5:179045200-179049200	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
11	chr5:179045200-179049400	Transcr. at gene 5' and 3'	HUVEC	blood vessel
12	chr5:179045400-179047800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr5:179045400-179048800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr5:179045600-179048600	Active TSS	Right Atrium	heart
15	chr5:179045600-179049000	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
16	chr5:179045600-179049000	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr5:179045600-179049000	Transcr. at gene 5' and 3'	Duodenum Mucosa	Duodenum
18	chr5:179045600-179049000	Transcr. at gene 5' and 3'	Duodenum Smooth Muscle	Duodenum
19	chr5:179045600-179049400	Transcr. at gene 5' and 3'	Hela-S3	cervix
20	chr5:179045600-179049400	Transcr. at gene 5' and 3'	NH-A	brain
21	chr5:179045600-179049400	Transcr. at gene 5' and 3'	Osteobl	bone
22	chr5:179045600-179049800	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr5:179045600-179049800	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
24	chr5:179045600-179049800	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr5:179045600-179049800	Transcr. at gene 5' and 3'	Fetal Lung	lung
26	chr5:179045600-179050200	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
27	chr5:179045800-179048000	Active TSS	Right Ventricle	heart
28	chr5:179045800-179049400	Transcr. at gene 5' and 3'	Fetal Kidney	kidney
29	chr5:179045800-179049400	Transcr. at gene 5' and 3'	HMEC	breast
30	chr5:179045800-179049400	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
31	chr5:179045800-179049600	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
32	chr5:179045800-179049800	Transcr. at gene 5' and 3'	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr5:179045800-179050400	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
34	chr5:179046000-179047800	Genic enhancers	Primary neutrophils fromperipheralblood	blood
35	chr5:179046000-179047800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr5:179046000-179048000	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
37	chr5:179046000-179049000	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
38	chr5:179046000-179049200	Transcr. at gene 5' and 3'	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr5:179046000-179049200	Transcr. at gene 5' and 3'	NHEK	skin
40	chr5:179046000-179049400	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
41	chr5:179046000-179049400	Transcr. at gene 5' and 3'	HepG2	liver
42	chr5:179046000-179049400	Transcr. at gene 5' and 3'	HSMM	muscle
43	chr5:179046000-179049600	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr5:179046000-179049800	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr5:179046000-179049800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr5:179046000-179050200	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr5:179046000-179051200	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
48	chr5:179046200-179048600	Genic enhancers	Primary monocytes fromperipheralblood	blood
49	chr5:179046200-179048800	Genic enhancers	Primary B cells from peripheral blood	blood
50	chr5:179046200-179049000	Transcr. at gene 5' and 3'	Adipose Nuclei	Adipose

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