Variant report

Variant	rs181885282
Chromosome Location	chr1:95581469-95581470
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	CEBPD	chr1:95581314-95581663	HepG2	liver:	n/a	chr1:95581481-95581492
2	NR2F2	chr1:95581041-95581722	K562	blood:	n/a	n/a
3	FOS	chr1:95581400-95581659	MCF10A-Er-Src	breast:	n/a	n/a
4	RCOR1	chr1:95581116-95581558	K562	blood:	n/a	n/a
5	CEBPB	chr1:95581333-95581722	ECC-1	luminal epithelium:	n/a	chr1:95581482-95581493 chr1:95581481-95581494
6	EGR1	chr1:95581151-95581609	K562	blood:	n/a	n/a
7	POLR2A	chr1:95581066-95581552	K562	blood:	n/a	n/a
8	CEBPB	chr1:95581248-95581767	HepG2	liver:	n/a	chr1:95581482-95581493 chr1:95581481-95581494
9	FOXA2	chr1:95581296-95581638	HepG2	liver:	n/a	n/a
10	GATA2	chr1:95581057-95581680	K562	blood:	n/a	chr1:95581629-95581640
11	SPI1	chr1:95581442-95581832	HL-60	blood:	n/a	n/a
12	CEBPD	chr1:95581377-95581641	HepG2	liver:	n/a	chr1:95581481-95581492
13	NR2F2	chr1:95581088-95581610	K562	blood:	n/a	n/a
14	CEBPB	chr1:95581021-95581886	K562	blood:	n/a	chr1:95581482-95581493 chr1:95581481-95581494
15	GATA2	chr1:95581160-95581567	K562	blood:	n/a	n/a
16	PML	chr1:95581022-95581660	K562	blood:	n/a	n/a
17	TEAD4	chr1:95581213-95581792	HepG2	liver:	n/a	n/a
18	CEBPB	chr1:95581334-95581702	IMR90	lung:	n/a	chr1:95581482-95581493 chr1:95581481-95581494
19	FOXA1	chr1:95581214-95581675	HepG2	liver:	n/a	n/a
20	FOS	chr1:95581350-95581663	MCF10A-Er-Src	breast:	n/a	n/a
21	EP300	chr1:95581363-95581615	Hela-S3	cervix:	n/a	chr1:95581479-95581493
22	STAT3	chr1:95581209-95581555	MCF10A-Er-Src	breast:	n/a	n/a
23	TEAD4	chr1:95581008-95581771	K562	blood:	n/a	n/a
24	POLR2A	chr1:95581155-95581532	K562	blood:	n/a	n/a
25	STAT5A	chr1:95581093-95581629	K562	blood:	n/a	n/a
26	TBP	chr1:95581125-95581686	K562	blood:	n/a	n/a
27	EP300	chr1:95581104-95581563	K562	blood:	n/a	chr1:95581479-95581493
28	CEBPB	chr1:95581400-95581628	H1-hESC	embryonic stem cell:	n/a	chr1:95581482-95581493 chr1:95581481-95581494
29	NR3C1	chr1:95581302-95581801	A549	lung:	n/a	chr1:95581407-95581420 chr1:95581703-95581716 chr1:95581331-95581338 chr1:95581328-95581337
30	NR3C1	chr1:95581365-95581671	A549	lung:	n/a	chr1:95581407-95581420
31	CEBPB	chr1:95581290-95581743	ECC-1	luminal epithelium:	n/a	chr1:95581482-95581493 chr1:95581481-95581494
32	EP300	chr1:95581058-95581655	K562	blood:	n/a	chr1:95581479-95581493
33	CEBPB	chr1:95581335-95581702	A549	lung:	n/a	chr1:95581482-95581493 chr1:95581481-95581494
34	CBX3	chr1:95581133-95581732	K562	blood:	n/a	n/a
35	CEBPB	chr1:95581058-95581867	K562	blood:	n/a	chr1:95581482-95581493 chr1:95581481-95581494
36	FOXA1	chr1:95581240-95581700	HepG2	liver:	n/a	n/a
37	FOS	chr1:95581259-95581631	MCF10A-Er-Src	breast:	n/a	n/a
38	CEBPB	chr1:95581327-95581703	Hela-S3	cervix:	n/a	chr1:95581482-95581493 chr1:95581481-95581494
39	NR3C1	chr1:95581334-95581757	A549	lung:	n/a	chr1:95581407-95581420 chr1:95581703-95581716
40	SP1	chr1:95581262-95581748	HepG2	liver:	n/a	n/a
41	MYBL2	chr1:95581268-95581747	HepG2	liver:	n/a	n/a
42	CEBPB	chr1:95581303-95581727	A549	lung:	n/a	chr1:95581482-95581493 chr1:95581481-95581494
43	EP300	chr1:95581243-95581685	HepG2	liver:	n/a	chr1:95581479-95581493
44	ZMIZ1	chr1:95581171-95581606	K562	blood:	n/a	n/a
45	CTCF	chr1:95581460-95581610	HEK293	kidney:	n/a	n/a
46	CEBPD	chr1:95581091-95581812	K562	blood:	n/a	chr1:95581481-95581492
47	STAT5A	chr1:95581034-95581754	K562	blood:	n/a	n/a
48	CEBPB	chr1:95581269-95581758	MCF-7	breast:	n/a	chr1:95581482-95581493 chr1:95581481-95581494
49	RCOR1	chr1:95581111-95581797	K562	blood:	n/a	n/a
50	CEBPD	chr1:95580991-95581750	K562	blood:	n/a	chr1:95581481-95581492

No.	Distal block	Cell Line	Cell type
1	chr1:94946963..94948709-chr1:95581027..95583387,2	K562	blood:
2	chr1:95577752..95581790-chr1:95581855..95584357,3	MCF-7	breast:
3	chr1:95580754..95585035-chr1:95586074..95591340,6	K562	blood:
4	chr1:95579611..95582560-chr1:95641374..95643709,2	K562	blood:
5	chr1:95537896..95540428-chr1:95580653..95582591,2	MCF-7	breast:

Variant related genes	Relation type
TMEM56	TF binding region
TMEM56-RWDD3	TF binding region
ENSG00000231992	TF binding region
ENSG00000117528	Chromatin interaction
ENSG00000152078	Chromatin interaction
ENSG00000206679	Chromatin interaction
ENSG00000271092	Chromatin interaction
ENSG00000172339	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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	nsv830636	chr1:95495849-95703126	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	esv3354291	chr1:95580964-95585362	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95580800-95581600	Enhancers	Liver	Liver
2	chr1:95580800-95581600	Enhancers	HepG2	liver
3	chr1:95581000-95582200	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr1:95581000-95582400	Flanking Active TSS	K562	blood
5	chr1:95581200-95581600	Enhancers	HMEC	breast
6	chr1:95581200-95582000	Enhancers	Fetal Heart	heart
7	chr1:95581200-95582000	Enhancers	Hela-S3	cervix
8	chr1:95581200-95582200	Enhancers	Brain Anterior Caudate	brain
9	chr1:95581200-95582200	Enhancers	Fetal Intestine Large	intestine
10	chr1:95581200-95582200	Enhancers	Fetal Intestine Small	intestine
11	chr1:95581400-95581600	Bivalent Enhancer	Primary B cells from cord blood	blood
12	chr1:95581400-95581600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
13	chr1:95581400-95581600	Enhancers	Esophagus	oesophagus
14	chr1:95581400-95581600	Enhancers	Right Ventricle	heart
15	chr1:95581400-95581800	Enhancers	A549	lung

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