Variant report

Variant	rs7537039
Chromosome Location	chr1:58717410-58717411
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:62)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:62 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:58717400-58717550	HRE	kidney:	n/a	n/a
2	CTCF	chr1:58717390-58717592	K562	blood:	n/a	n/a
3	CTCF	chr1:58717400-58717550	HPF	lung:	n/a	n/a
4	CTCF	chr1:58717328-58717721	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr1:58717340-58717490	RPTEC	kidney:	n/a	n/a
6	CTCF	chr1:58717300-58717450	A549	lung:	n/a	n/a
7	REST	chr1:58717397-58717867	PFSK-1	brain:	n/a	chr1:58717653-58717662
8	NFYB	chr1:58717408-58717708	K562	blood:	n/a	n/a
9	CTCF	chr1:58717400-58717550	MCF-7	breast:	n/a	n/a
10	CTCF	chr1:58717381-58717623	K562	blood:	n/a	n/a
11	EGR1	chr1:58717352-58717622	K562	blood:	n/a	n/a
12	RAD21	chr1:58717210-58717795	HCT-116	colon:	n/a	n/a
13	RAD21	chr1:58717399-58717589	SK-N-SH_RA	brain:	n/a	n/a
14	POLR2A	chr1:58717024-58717532	HL-60	blood:	n/a	n/a
15	CTCF	chr1:58717300-58717450	AG04450	lung:	n/a	n/a
16	CTCF	chr1:58717284-58717630	K562	blood:	n/a	n/a
17	CTCF	chr1:58717335-58717682	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr1:58717380-58717530	GM12870	blood:	n/a	n/a
19	CTCF	chr1:58717338-58717678	GM12878	blood:	n/a	n/a
20	CTCF	chr1:58717400-58717550	GM12867	blood:	n/a	n/a
21	CTCF	chr1:58717400-58717550	NHDF-neo	bronchial:	n/a	n/a
22	CTCF	chr1:58717400-58717550	HA-sp	spinal cord:	n/a	n/a
23	CTCF	chr1:58717400-58717550	HVMF	connective:	n/a	n/a
24	RAD21	chr1:58717037-58717713	H1-hESC	embryonic stem cell:	n/a	n/a
25	RAD21	chr1:58717287-58717626	ECC-1	luminal epithelium:	n/a	n/a
26	CTCF	chr1:58717400-58717550	Hela-S3	cervix:	n/a	n/a
27	ZNF143	chr1:58717367-58717680	K562	blood:	n/a	n/a
28	CTCF	chr1:58717360-58717510	HFF-Myc	foreskin:	n/a	n/a
29	CTCF	chr1:58717400-58717550	GM06990	blood:	n/a	n/a
30	RAD21	chr1:58717323-58717681	SK-N-SH_RA	brain:	n/a	n/a
31	CTCF	chr1:58717400-58717550	NB4	blood:	n/a	n/a
32	CTCF	chr1:58717400-58717550	NHEK	skin:	n/a	n/a
33	CTCF	chr1:58717336-58717662	IMR90	lung:	n/a	n/a
34	JUND	chr1:58717369-58717536	K562	blood:	n/a	n/a
35	CTCF	chr1:58717310-58717691	K562	blood:	n/a	n/a
36	CTCF	chr1:58717400-58717550	GM12874	blood:	n/a	n/a
37	REST	chr1:58717064-58717781	HL-60	blood:	n/a	chr1:58717653-58717662
38	CTCF	chr1:58717376-58717598	SK-N-SH_RA	brain:	n/a	n/a
39	TEAD4	chr1:58717377-58717702	H1-hESC	embryonic stem cell:	n/a	n/a
40	RAD21	chr1:58717317-58717573	HepG2	liver:	n/a	n/a
41	CTCF	chr1:58717394-58717592	HepG2	liver:	n/a	n/a
42	RAD21	chr1:58717236-58717707	H1-hESC	embryonic stem cell:	n/a	n/a
43	RCOR1	chr1:58717372-58717569	K562	blood:	n/a	n/a
44	CTCF	chr1:58717009-58717869	SK-N-SH	brain:	n/a	n/a
45	CTCF	chr1:58717380-58717530	GM12865	blood:	n/a	n/a
46	SPI1	chr1:58717024-58717484	HL-60	blood:	n/a	n/a
47	CTCF	chr1:58717360-58717510	HMEC	breast:	n/a	n/a
48	RAD21	chr1:58717271-58717668	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTCF	chr1:58717400-58717550	HBMEC	blood vessel:	n/a	n/a
50	CTCF	chr1:58717389-58717605	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:58711426..58714604-chr1:58717021..58720890,3	K562	blood:
2	chr1:58717073..58717741-chr1:59012205..59012834,2	K562	blood:

No data

Variant related genes	Relation type
DAB1	TF binding region
ENSG00000162600	Chromatin interaction
ENSG00000173406	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs13375632	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs614373	0.89[JPT][hapmap]
rs639241	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs647762	0.89[JPT][hapmap]
rs6587805	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7522827	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]

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	nsv1015057	chr1:57976993-58793962	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv431379	chr1:58224212-58802608	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1008968	chr1:58582159-58982440	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv534974	chr1:58582159-58982440	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv546307	chr1:58707111-58733050	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv546308	chr1:58714427-58743499	Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7537039	USP24	cis	parietal	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:58716000-58718400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:58716200-58718000	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr1:58716400-58718400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
4	chr1:58716600-58717600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr1:58716600-58717600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr1:58716800-58718000	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr1:58717400-58717600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr1:58717400-58717600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr1:58717400-58721200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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