Variant report

Variant	rs577442124
Chromosome Location	chr2:73113733-73113734
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	EP300	chr2:73113667-73114009	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr2:73113642-73114020	HepG2	liver:	n/a	n/a
3	CEBPB	chr2:73113576-73114091	ECC-1	luminal epithelium:	n/a	n/a
4	CEBPB	chr2:73113516-73114346	A549	lung:	n/a	n/a
5	CEBPB	chr2:73113492-73114201	MCF-7	breast:	n/a	n/a
6	MAX	chr2:73113614-73115363	MCF-7	breast:	n/a	n/a
7	CEBPB	chr2:73113640-73114082	K562	blood:	n/a	n/a
8	CEBPB	chr2:73113660-73114018	IMR90	lung:	n/a	n/a
9	CEBPB	chr2:73113636-73114023	A549	lung:	n/a	n/a
10	CEBPD	chr2:73113703-73113972	HepG2	liver:	n/a	n/a
11	CEBPB	chr2:73113581-73114132	A549	lung:	n/a	n/a
12	JUN	chr2:73113655-73115589	K562	blood:	n/a	chr2:73114492-73114501 chr2:73113985-73113997
13	CEBPB	chr2:73113661-73114007	K562	blood:	n/a	n/a
14	PRDM1	chr2:73113732-73113909	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chr2:73113617-73114082	ECC-1	luminal epithelium:	n/a	n/a
16	CEBPB	chr2:73113465-73114312	HCT-116	colon:	n/a	n/a
17	MXI1	chr2:73113626-73115740	IMR90	lung:	n/a	chr2:73113862-73113877
18	CTCF	chr2:73113665-73116140	SK-N-SH	brain:	n/a	chr2:73115126-73115142 chr2:73115127-73115140 chr2:73115810-73115823 chr2:73115125-73115143 chr2:73115808-73115826 chr2:73114493-73114506 chr2:73115127-73115140 chr2:73114232-73114245
19	CEBPD	chr2:73113705-73113958	HepG2	liver:	n/a	n/a
20	CEBPB	chr2:73113669-73113920	HepG2	liver:	n/a	n/a
21	CEBPB	chr2:73113610-73114008	HepG2	liver:	n/a	n/a
22	CEBPB	chr2:73113660-73114017	HepG2	liver:	n/a	n/a
23	CTCF	chr2:73113444-73115661	A549	lung:	n/a	chr2:73115126-73115142 chr2:73115127-73115140 chr2:73115125-73115143 chr2:73114493-73114506 chr2:73115127-73115140 chr2:73114232-73114245
24	CEBPB	chr2:73113626-73114042	H1-hESC	embryonic stem cell:	n/a	n/a
25	SMC3	chr2:73113701-73115548	SK-N-SH	brain:	n/a	chr2:73114372-73114379 chr2:73115127-73115141
26	RFX5	chr2:73113731-73115328	Hela-S3	cervix:	n/a	n/a
27	CEBPB	chr2:73113635-73114130	MCF-7	breast:	n/a	n/a
28	CEBPB	chr2:73113535-73115279	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:73113720..73115697-chr2:73143241..73144788,2	MCF-7	breast:
2	chr2:73113671..73115841-chr2:73142116..73144129,2	MCF-7	breast:

Variant related genes	Relation type
SPR	TF binding region
ENSG00000135638	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834259	chr2:72941118-73114106	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv532723	chr2:73088191-73219259	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	esv3377861	chr2:73113469-73116017	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73112800-73114000	Enhancers	Placenta	Placenta
2	chr2:73113200-73113800	Enhancers	Liver	Liver
3	chr2:73113400-73114000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:73113600-73113800	Enhancers	Brain Anterior Caudate	brain
5	chr2:73113600-73113800	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr2:73113600-73113800	Enhancers	Spleen	Spleen
7	chr2:73113600-73113800	Enhancers	A549	lung
8	chr2:73113600-73113800	Enhancers	NHEK	skin
9	chr2:73113600-73114000	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr2:73113600-73114000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr2:73113600-73114000	Enhancers	Duodenum Smooth Muscle	Duodenum
12	chr2:73113600-73114000	Enhancers	Fetal Heart	heart
13	chr2:73113600-73114000	Bivalent Enhancer	Fetal Intestine Large	intestine
14	chr2:73113600-73114000	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr2:73113600-73114000	Enhancers	HMEC	breast
16	chr2:73113600-73114200	Flanking Active TSS	HepG2	liver
17	chr2:73113600-73114400	Flanking Active TSS	Hela-S3	cervix

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