Variant report

Variant	rs11951354
Chromosome Location	chr5:52773279-52773280
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:54)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:54 , 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	MYBL2	chr5:52772646-52773425	HepG2	liver:	n/a	n/a
5	CREB1	chr5:52772660-52773439	HepG2	liver:	n/a	n/a
6	MAFK	chr5:52772758-52773405	HepG2	liver:	n/a	n/a
7	MBD4	chr5:52772590-52773394	HepG2	liver:	n/a	n/a
8	ESR1	chr5:52772623-52773315	T-47D	breast:	n/a	n/a
9	NR2F2	chr5:52772607-52773480	HepG2	liver:	n/a	n/a
10	HDAC2	chr5:52772712-52773356	HepG2	liver:	n/a	n/a
11	HNF4G	chr5:52772747-52773335	HepG2	liver:	n/a	n/a
12	NR2F2	chr5:52772766-52773357	MCF-7	breast:	n/a	n/a
13	FOXA1	chr5:52772592-52773375	HepG2	liver:	n/a	n/a
14	RAD21	chr5:52772794-52773300	HepG2	liver:	n/a	n/a
15	SP1	chr5:52772599-52773321	HepG2	liver:	n/a	n/a
16	FOXA1	chr5:52772593-52773405	HepG2	liver:	n/a	n/a
17	FOXA2	chr5:52772679-52773305	HepG2	liver:	n/a	n/a
18	MYBL2	chr5:52772528-52773663	HepG2	liver:	n/a	n/a
19	CEBPB	chr5:52772769-52773331	HepG2	liver:	n/a	n/a
20	MAX	chr5:52772572-52773462	HepG2	liver:	n/a	n/a
21	FOSL2	chr5:52772757-52773288	HepG2	liver:	n/a	chr5:52772771-52772780
22	FOSL2	chr5:52772742-52773287	HepG2	liver:	n/a	chr5:52772771-52772780
23	EP300	chr5:52772753-52773302	HepG2	liver:	n/a	chr5:52773019-52773029
24	FOXA1	chr5:52772673-52773355	HepG2	liver:	n/a	n/a
25	HNF4A	chr5:52772700-52773314	HepG2	liver:	n/a	n/a
26	RFX5	chr5:52772864-52773387	HepG2	liver:	n/a	n/a
27	TEAD4	chr5:52772619-52773389	HepG2	liver:	n/a	n/a
28	ESR1	chr5:52772740-52773298	T-47D	breast:	n/a	n/a
29	HEY1	chr5:52772591-52773364	HepG2	liver:	n/a	n/a
30	MAFF	chr5:52772712-52773428	HepG2	liver:	n/a	n/a
31	NFIC	chr5:52772718-52773385	HepG2	liver:	n/a	n/a
32	ARID3A	chr5:52772612-52773356	HepG2	liver:	n/a	n/a
33	MBD4	chr5:52772709-52773300	HepG2	liver:	n/a	n/a
34	JUND	chr5:52772752-52773282	HepG2	liver:	n/a	chr5:52772771-52772780
35	STAT3	chr5:52773232-52773499	MCF10A-Er-Src	breast:	n/a	n/a
36	BHLHE40	chr5:52772843-52773312	HepG2	liver:	n/a	n/a
37	EP300	chr5:52772633-52773305	HepG2	liver:	n/a	chr5:52773019-52773029
38	JUND	chr5:52772670-52773329	HepG2	liver:	n/a	chr5:52772771-52772780
39	CEBPB	chr5:52772736-52773320	HepG2	liver:	n/a	n/a
40	SMC3	chr5:52772792-52773346	HepG2	liver:	n/a	n/a
41	HNF4G	chr5:52772749-52773299	HepG2	liver:	n/a	n/a
42	MAFK	chr5:52772737-52773298	HepG2	liver:	n/a	n/a
43	NR2F2	chr5:52772570-52773530	HepG2	liver:	n/a	n/a
44	FOXA1	chr5:52772644-52773308	HepG2	liver:	n/a	n/a
45	JUN	chr5:52772810-52773308	HepG2	liver:	n/a	n/a
46	RXRA	chr5:52772704-52773334	HepG2	liver:	n/a	n/a
47	NFIC	chr5:52772483-52773549	HepG2	liver:	n/a	chr5:52772525-52772553
48	FOXA2	chr5:52772544-52773675	HepG2	liver:	n/a	n/a
49	MXI1	chr5:52772786-52773300	HepG2	liver:	n/a	n/a
50	TBP	chr5:52772667-52773340	HepG2	liver:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:52634537..52635379-chr5:52772608..52773561,2	MCF-7	breast:
2	chr5:52772738..52773313-chr5:53455804..53456355,2	MCF-7	breast:
3	chr5:52619745..52620444-chr5:52772653..52773364,2	MCF-7	breast:
4	chr5:52388112..52388681-chr5:52772747..52773456,2	MCF-7	breast:

No data

Variant related genes	Relation type
FST	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1423554	0.86[ASN][1000 genomes]
rs55797709	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56286982	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62370475	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6880850	0.96[EUR][1000 genomes]

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:32 , 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	chr5:52766800-52774400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:52768000-52774200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr5:52768600-52774000	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr5:52769200-52774000	Enhancers	HepG2	liver
6	chr5:52769800-52774000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr5:52770000-52774000	Weak transcription	NHEK	skin
8	chr5:52770800-52774200	Enhancers	Liver	Liver
9	chr5:52772000-52773400	Enhancers	HSMM	muscle
10	chr5:52772200-52774000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:52772600-52773400	Enhancers	Brain Substantia Nigra	brain
12	chr5:52772600-52774400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr5:52772800-52773400	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr5:52772800-52773400	Enhancers	Brain Cingulate Gyrus	brain
15	chr5:52772800-52773400	Enhancers	Brain Hippocampus Middle	brain
16	chr5:52772800-52773400	Enhancers	HMEC	breast
17	chr5:52772800-52774400	Weak transcription	Brain Germinal Matrix	brain
18	chr5:52773000-52774000	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr5:52773000-52774000	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr5:52773000-52774000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr5:52773000-52774000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr5:52773000-52774000	Weak transcription	Brain Anterior Caudate	brain
23	chr5:52773200-52774000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr5:52773200-52774000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:52773200-52774000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr5:52773200-52774000	Weak transcription	Hela-S3	cervix
27	chr5:52773200-52774000	Weak transcription	HSMMtube	muscle
28	chr5:52773200-52774200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr5:52773200-52774400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr5:52773200-52774400	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr5:52773200-52774400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr5:52773200-52774400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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