Variant report

Variant	rs543456521
Chromosome Location	chr5:52772895-52772896
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:76)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:76 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RXRA	chr5:52772721-52773313	HepG2	liver:	n/a	n/a
2	HNF4A	chr5:52772750-52773324	HepG2	liver:	n/a	n/a
3	HDAC2	chr5:52772679-52773285	HepG2	liver:	n/a	n/a
4	ZNF217	chr5:52772875-52773218	MCF-7	breast:	n/a	n/a
5	MYBL2	chr5:52772646-52773425	HepG2	liver:	n/a	n/a
6	CREB1	chr5:52772660-52773439	HepG2	liver:	n/a	n/a
7	MAFK	chr5:52772758-52773405	HepG2	liver:	n/a	n/a
8	MBD4	chr5:52772590-52773394	HepG2	liver:	n/a	n/a
9	FOXA1	chr5:52772837-52773147	T-47D	breast:	n/a	n/a
10	ESR1	chr5:52772623-52773315	T-47D	breast:	n/a	n/a
11	GATA3	chr5:52772783-52773233	MCF-7	breast:	n/a	n/a
12	NR2F2	chr5:52772607-52773480	HepG2	liver:	n/a	n/a
13	HDAC2	chr5:52772712-52773356	HepG2	liver:	n/a	n/a
14	CEBPD	chr5:52772883-52773242	HepG2	liver:	n/a	n/a
15	HNF4G	chr5:52772747-52773335	HepG2	liver:	n/a	n/a
16	NR2F2	chr5:52772766-52773357	MCF-7	breast:	n/a	n/a
17	FOXA1	chr5:52772592-52773375	HepG2	liver:	n/a	n/a
18	ESR1	chr5:52772763-52773265	T-47D	breast:	n/a	n/a
19	NR2F2	chr5:52772829-52773234	MCF-7	breast:	n/a	n/a
20	RAD21	chr5:52772794-52773300	HepG2	liver:	n/a	n/a
21	SP1	chr5:52772599-52773321	HepG2	liver:	n/a	n/a
22	FOXA1	chr5:52772593-52773405	HepG2	liver:	n/a	n/a
23	FOXA2	chr5:52772679-52773305	HepG2	liver:	n/a	n/a
24	MYBL2	chr5:52772528-52773663	HepG2	liver:	n/a	n/a
25	CEBPB	chr5:52772769-52773331	HepG2	liver:	n/a	n/a
26	MAX	chr5:52772774-52773267	HepG2	liver:	n/a	n/a
27	ESR1	chr5:52772804-52773261	T-47D	breast:	n/a	n/a
28	MAX	chr5:52772572-52773462	HepG2	liver:	n/a	n/a
29	FOSL2	chr5:52772757-52773288	HepG2	liver:	n/a	chr5:52772771-52772780
30	RCOR1	chr5:52772755-52773253	HepG2	liver:	n/a	n/a
31	FOSL2	chr5:52772742-52773287	HepG2	liver:	n/a	chr5:52772771-52772780
32	REST	chr5:52772842-52773104	HepG2	liver:	n/a	n/a
33	EP300	chr5:52772753-52773302	HepG2	liver:	n/a	chr5:52773019-52773029
34	FOXA1	chr5:52772673-52773355	HepG2	liver:	n/a	n/a
35	HNF4A	chr5:52772700-52773314	HepG2	liver:	n/a	n/a
36	JUND	chr5:52772812-52773228	HepG2	liver:	n/a	n/a
37	RFX5	chr5:52772864-52773387	HepG2	liver:	n/a	n/a
38	TEAD4	chr5:52772619-52773389	HepG2	liver:	n/a	n/a
39	SRF	chr5:52772791-52773147	HepG2	liver:	n/a	n/a
40	TEAD4	chr5:52772770-52773170	HepG2	liver:	n/a	n/a
41	ESR1	chr5:52772740-52773298	T-47D	breast:	n/a	n/a
42	HEY1	chr5:52772591-52773364	HepG2	liver:	n/a	n/a
43	MAFF	chr5:52772712-52773428	HepG2	liver:	n/a	n/a
44	HNF4A	chr5:52772789-52773256	HepG2	liver:	n/a	n/a
45	GATA3	chr5:52772776-52773181	MCF-7	breast:	n/a	n/a
46	CEBPB	chr5:52772828-52773255	HepG2	liver:	n/a	n/a
47	NFIC	chr5:52772718-52773385	HepG2	liver:	n/a	n/a
48	ARID3A	chr5:52772612-52773356	HepG2	liver:	n/a	n/a
49	MBD4	chr5:52772709-52773300	HepG2	liver:	n/a	n/a
50	TCF12	chr5:52772793-52773215	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr5:52772632..52773163-chr5:53951902..53952615,3	MCF-7	breast:
2	chr5:52634537..52635379-chr5:52772608..52773561,2	MCF-7	breast:
3	chr5:52772738..52773313-chr5:53455804..53456355,2	MCF-7	breast:
4	chr5:52619745..52620444-chr5:52772653..52773364,2	MCF-7	breast:
5	chr5:52388112..52388681-chr5:52772747..52773456,2	MCF-7	breast:
6	chr5:52384993..52385720-chr5:52772505..52773240,2	MCF-7	breast:
7	chr5:52772655..52773163-chr5:53952034..53952615,2	MCF-7	breast:
8	chr5:52772745..52773247-chr5:53021978..53022710,2	MCF-7	breast:
9	chr5:52772594..52773194-chr5:52899890..52900738,2	MCF-7	breast:

No data

Variant related genes	Relation type
FST	TF binding region
ENSG00000272123	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949005	chr5:52188028-52808229	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv2752745	chr5:52422063-53343529	Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1032632	chr5:52667145-53655624	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv328038	chr5:52772280-52777292	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52761600-52774400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:52766800-52773000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr5:52766800-52774400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:52768000-52774200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:52768600-52774000	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr5:52769200-52774000	Enhancers	HepG2	liver
7	chr5:52769800-52774000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr5:52770000-52774000	Weak transcription	NHEK	skin
9	chr5:52770800-52774200	Enhancers	Liver	Liver
10	chr5:52772000-52773000	Enhancers	Brain Anterior Caudate	brain
11	chr5:52772000-52773400	Enhancers	HSMM	muscle
12	chr5:52772200-52774000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:52772400-52773200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:52772600-52773400	Enhancers	Brain Substantia Nigra	brain
15	chr5:52772600-52774400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr5:52772800-52773000	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr5:52772800-52773000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr5:52772800-52773200	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr5:52772800-52773200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr5:52772800-52773200	Enhancers	H9 Cell Line	embryonic stem cell
21	chr5:52772800-52773200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr5:52772800-52773200	Enhancers	Hela-S3	cervix
23	chr5:52772800-52773200	Enhancers	HSMMtube	muscle
24	chr5:52772800-52773400	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr5:52772800-52773400	Enhancers	Brain Cingulate Gyrus	brain
26	chr5:52772800-52773400	Enhancers	Brain Hippocampus Middle	brain
27	chr5:52772800-52773400	Enhancers	HMEC	breast
28	chr5:52772800-52774400	Weak transcription	Brain Germinal Matrix	brain

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