Variant report

Variant	rs73817218
Chromosome Location	chr4:56500372-56500373
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:24)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:24 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	USF1	chr4:56500224-56500579	H1-hESC	embryonic stem cell:	n/a	n/a
2	USF1	chr4:56500279-56500539	K562	blood:	n/a	n/a
3	CEBPD	chr4:56500094-56500488	K562	blood:	n/a	n/a
4	MYC	chr4:56500229-56500593	K562	blood:	n/a	n/a
5	USF2	chr4:56500279-56500522	H1-hESC	embryonic stem cell:	n/a	n/a
6	TBL1XR1	chr4:56499512-56501926	K562	blood:	n/a	n/a
7	YY1	chr4:56500224-56500476	K562	blood:	n/a	chr4:56500375-56500383
8	CEBPB	chr4:56500139-56500401	H1-hESC	embryonic stem cell:	n/a	n/a
9	CUX1	chr4:56499698-56500972	K562	blood:	n/a	n/a
10	POLR2A	chr4:56499394-56503785	K562	blood:	n/a	n/a
11	MAX	chr4:56500177-56500460	K562	blood:	n/a	n/a
12	CEBPB	chr4:56500141-56500429	HepG2	liver:	n/a	n/a
13	CEBPB	chr4:56500092-56500438	K562	blood:	n/a	n/a
14	USF1	chr4:56500216-56500467	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr4:56499543-56503922	K562	blood:	n/a	n/a
16	POLR2A	chr4:56499874-56503767	K562	blood:	n/a	n/a
17	RCOR1	chr4:56499794-56500595	K562	blood:	n/a	n/a
18	CEBPB	chr4:56500114-56500405	A549	lung:	n/a	n/a
19	CEBPB	chr4:56500041-56500445	K562	blood:	n/a	n/a
20	POLR2A	chr4:56499478-56502006	K562	blood:	n/a	n/a
21	JUND	chr4:56500110-56500543	K562	blood:	n/a	n/a
22	CEBPB	chr4:56500146-56500378	K562	blood:	n/a	n/a
23	POLR2A	chr4:56499765-56503986	K562	blood:	n/a	n/a
24	MXI1	chr4:56500293-56500946	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:56500362-56500412	NHBE	bronchial:	n/a
2	chr4:56500362-56500412	NHDF-neo	bronchial:	n/a
3	chr4:56500362-56500412	HEEpiC	esophagus:	n/a
4	chr4:56500362-56500412	GM19239	blood:	n/a
5	chr4:56500362-56500412	PANC-1	pancreas:	n/a
6	chr4:56500362-56500412	NB4	blood:	n/a
7	chr4:56500362-56500412	NH-A	brain:	n/a
8	chr4:56500362-56500412	HepG2	liver:	n/a
9	chr4:56500362-56500412	BJ	skin:	n/a
10	chr4:56500362-56500412	MCF10A-Er-Src	breast:	n/a
11	chr4:56500362-56500412	HMEC	breast:	n/a
12	chr4:56500362-56500412	AG09309	skin:	n/a
13	chr4:56500362-56500412	SAEC	small airway:	n/a
14	chr4:56500362-56500412	AG10803	skin:	n/a
15	chr4:56500362-56500412	A549	lung:	n/a
16	chr4:56500362-56500412	HRE	kidney:	n/a
17	chr4:56500362-56500412	CMK	blood:	n/a
18	chr4:56500362-56500412	AoSMC	blood vessel:	n/a
19	chr4:56500362-56500412	SK-N-SH_RA	brain:	n/a
20	chr4:56500362-56500412	GM06990	blood:	n/a
21	chr4:56500362-56500412	HL-60	blood:	n/a
22	chr4:56500362-56500412	GM12891	blood:	n/a
23	chr4:56500362-56500412	SK-N-MC	brain:	n/a
24	chr4:56500362-56500412	PFSK-1	brain:	n/a
25	chr4:56500362-56500412	ECC-1	luminal epithelium:	n/a
26	chr4:56500362-56500412	ovcar-3	ovarian:	n/a
27	chr4:56500362-56500412	PrEC	prostate:	n/a
28	chr4:56500362-56500412	IMR90	lung:	fetal
29	chr4:56500362-56500412	Hepatocyte	liver:	n/a
30	chr4:56500362-56500412	NT2-D1	testis:	n/a
31	chr4:56500362-56500412	Caco-2	colon:	n/a
32	chr4:56500362-56500412	RPTEC	kidney:	n/a
33	chr4:56500362-56500412	Jurkat	blood:	n/a
34	chr4:56500362-56500412	Hela-S3	cervix:	n/a
35	chr4:56500362-56500412	HNPCEpiC	eye:	n/a
36	chr4:56500362-56500412	HAEpiC	amniotic membrane:	n/a
37	chr4:56500362-56500412	SK-N-SH	brain:	n/a
38	chr4:56500362-56500412	HIPEpiC	eye:	n/a
39	chr4:56500362-56500412	T-47D	breast:	n/a
40	chr4:56500362-56500412	K562	blood:	n/a
41	chr4:56500362-56500412	BE2_C	brain:	n/a
42	chr4:56500362-56500412	ProgFib	skin:	n/a
43	chr4:56500362-56500412	LNCaP	prostate:	n/a
44	chr4:56500362-56500412	HCPEpiC	choroid plexus:	n/a
45	chr4:56500362-56500412	AG09319	gingival:	n/a
46	chr4:56500362-56500412	SKMC	muscle:	n/a
47	chr4:56500362-56500412	H1-hESC	embryonic stem cell:	embryo
48	chr4:56500362-56500412	HCT-116	colon:	n/a
49	chr4:56500362-56500412	HRPEpiC	eye:	n/a
50	chr4:56500362-56500412	MCF-7	breast:	n/a

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:56500129..56502345-chr4:56579313..56582236,2	K562	blood:
2	chr4:56407970..56411777-chr4:56498734..56501001,3	K562	blood:

No data

Variant related genes	Relation type
NMU	TF binding region
NMU	CpG island

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs55862824	0.89[AFR][1000 genomes]
rs6815413	1.00[AMR][1000 genomes]
rs73817219	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73817221	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73817222	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2755990	chr4:56317136-57143037	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	nsv10496	chr4:56336946-56841137	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv998179	chr4:56425126-56694339	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv932636	chr4:56438618-56667329	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv879021	chr4:56482750-56648713	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	esv3393088	chr4:56484073-56503988	Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	esv3395811	chr4:56486113-56514675	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56494000-56500600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:56499400-56501000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:56499600-56500400	Transcr. at gene 5' and 3'	K562	blood
4	chr4:56499600-56500600	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr4:56499800-56500400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr4:56499800-56501000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr4:56499800-56501400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr4:56500000-56500600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr4:56500000-56501200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr4:56500000-56501600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr4:56500200-56500400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr4:56500200-56500400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
13	chr4:56500200-56500400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr4:56500200-56500600	Enhancers	H1 Cell Line	embryonic stem cell
15	chr4:56500200-56500600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
16	chr4:56500200-56500800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
17	chr4:56500200-56501000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:56500200-56501000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell

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