Variant report

Variant	rs55911316
Chromosome Location	chr5:111496100-111496101
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:57)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:57 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr5:111496011-111497089	HCT-116	colon:	n/a	n/a
2	SIN3AK20	chr5:111496019-111497316	MCF-7	breast:	n/a	n/a
3	EP300	chr5:111496098-111496951	GM12878	blood:	n/a	n/a
4	SMARCB1	chr5:111495895-111497310	Hela-S3	cervix:	n/a	n/a
5	MAFF	chr5:111496004-111496651	HepG2	liver:	n/a	n/a
6	TCF7L2	chr5:111495978-111497017	Hela-S3	cervix:	n/a	n/a
7	SIX5	chr5:111496068-111497515	A549	lung:	n/a	n/a
8	MAFK	chr5:111496058-111496776	IMR90	lung:	n/a	n/a
9	POLR2A	chr5:111495953-111497510	ECC-1	luminal epithelium:	n/a	n/a
10	ZNF263	chr5:111496088-111497677	HEK293-T-REx	kidney:	n/a	n/a
11	SREBP1	chr5:111495809-111498426	GM12878	blood:	n/a	n/a
12	POLR2A	chr5:111495918-111502786	H1-hESC	embryonic stem cell:	n/a	n/a
13	MYBL2	chr5:111496100-111496827	HepG2	liver:	n/a	n/a
14	JUND	chr5:111495871-111497830	SK-N-SH	brain:	n/a	n/a
15	SP1	chr5:111496038-111496945	A549	lung:	n/a	n/a
16	MAX	chr5:111496006-111497487	A549	lung:	n/a	n/a
17	MAX	chr5:111495972-111497245	HCT-116	colon:	n/a	n/a
18	MXI1	chr5:111496061-111497445	IMR90	lung:	n/a	n/a
19	REST	chr5:111496031-111497579	H1-neurons	neurons:	n/a	n/a
20	EP300	chr5:111496073-111496907	SK-N-SH	brain:	n/a	n/a
21	TAF1	chr5:111496091-111497167	H1-hESC	embryonic stem cell:	n/a	n/a
22	RAD21	chr5:111496092-111496655	A549	lung:	n/a	n/a
23	CHD1	chr5:111496090-111497414	GM12878	blood:	n/a	n/a
24	PML	chr5:111496095-111497477	GM12878	blood:	n/a	chr5:111497367-111497375
25	EP300	chr5:111496068-111496887	A549	lung:	n/a	n/a
26	MYC	chr5:111496058-111497684	A549	lung:	n/a	n/a
27	TCF12	chr5:111496081-111497535	A549	lung:	n/a	n/a
28	GTF2F1	chr5:111496075-111497515	Hela-S3	cervix:	n/a	n/a
29	SP1	chr5:111495984-111496945	HCT-116	colon:	n/a	n/a
30	BHLHE40	chr5:111496076-111497123	GM12878	blood:	n/a	n/a
31	RFX5	chr5:111496045-111497194	HepG2	liver:	n/a	n/a
32	MXI1	chr5:111496077-111497309	HepG2	liver:	n/a	n/a
33	CTCF	chr5:111496100-111497610	A549	lung:	n/a	n/a
34	MAFK	chr5:111496050-111496661	HepG2	liver:	n/a	n/a
35	POLR2A	chr5:111496055-111502439	PFSK-1	brain:	n/a	n/a
36	CTCF	chr5:111496020-111496170	NHDF-neo	bronchial:	n/a	n/a
37	MAX	chr5:111495977-111497396	HCT-116	colon:	n/a	n/a
38	BHLHE40	chr5:111496048-111497230	K562	blood:	n/a	n/a
39	SETDB1	chr5:111496070-111496703	U2OS	brain:	n/a	n/a
40	POLR2A	chr5:111495984-111504079	A549	lung:	n/a	n/a
41	JUND	chr5:111495885-111497325	GM12878	blood:	n/a	n/a
42	CTCF	chr5:111496029-111496933	HCT-116	colon:	n/a	n/a
43	SP1	chr5:111496026-111497137	HCT-116	colon:	n/a	n/a
44	MAFK	chr5:111496094-111496595	HepG2	liver:	n/a	n/a
45	POLR2A	chr5:111496092-111504082	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr5:111496058-111497015	MCF-7	breast:	n/a	n/a
47	FOXM1	chr5:111496085-111497246	GM12878	blood:	n/a	n/a
48	MTA3	chr5:111495966-111497421	GM12878	blood:	n/a	n/a
49	HCFC1	chr5:111495967-111497938	Hela-S3	cervix:	n/a	n/a
50	CHD1	chr5:111496017-111498970	IMR90	lung:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr5:111495904..111497786-chr5:111539852..111541904,2	K562	blood:
2	chr5:110427977..110430088-chr5:111495107..111498582,4	K562	blood:
3	chr1:149858447..149860137-chr5:111495190..111496894,2	MCF-7	breast:
4	chr5:111495986..111496690-chr9:123555145..123555753,2	Hela-S3	cervix:
5	chr5:111495302..111497808-chr5:111754204..111756858,3	MCF-7	breast:
6	chr5:110848137..110849903-chr5:111495270..111497479,2	MCF-7	breast:
7	chr5:111091669..111093632-chr5:111494994..111496527,2	MCF-7	breast:
8	chr5:110846086..110848469-chr5:111495331..111498521,3	K562	blood:
9	chr5:110847947..110849920-chr5:111495605..111497967,3	K562	blood:

No data

Variant related genes	Relation type
SNORA13	TF binding region
EPB41L4A-AS1	TF binding region
ENSG00000129595	Chromatin interaction
ENSG00000164211	Chromatin interaction
ENSG00000246859	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000251187	Chromatin interaction
ENSG00000178096	Chromatin interaction
ENSG00000134986	Chromatin interaction
ENSG00000134987	Chromatin interaction
ENSG00000268358	Chromatin interaction
ENSG00000184270	Chromatin interaction
ENSG00000119402	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs57067926	1.00[AMR][1000 genomes]
rs57338300	1.00[AMR][1000 genomes]
rs73227482	0.90[AFR][1000 genomes]
rs73229331	1.00[AMR][1000 genomes]
rs73229367	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599367	chr5:110924280-111602713	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1015302	chr5:111339022-111802947	Enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv537861	chr5:111339022-111802947	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv948869	chr5:111476404-111695183	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111491200-111496200	Weak transcription	Aorta	Aorta
2	chr5:111492400-111496200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:111492400-111496200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr5:111494200-111496400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr5:111495200-111496200	Enhancers	Right Ventricle	heart
6	chr5:111495800-111496400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
7	chr5:111496000-111496200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr5:111496000-111496200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr5:111496000-111496200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr5:111496000-111496200	Enhancers	Primary B cells from cord blood	blood
11	chr5:111496000-111496200	Enhancers	Primary B cells from peripheral blood	blood
12	chr5:111496000-111496200	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
13	chr5:111496000-111496200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr5:111496000-111496200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr5:111496000-111496200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
16	chr5:111496000-111496200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr5:111496000-111496200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr5:111496000-111496200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr5:111496000-111496200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr5:111496000-111496200	Flanking Active TSS	Fetal Heart	heart
21	chr5:111496000-111496200	Enhancers	Fetal Thymus	thymus
22	chr5:111496000-111496200	Enhancers	Lung	lung
23	chr5:111496000-111496200	Enhancers	Pancreas	Pancrea
24	chr5:111496000-111496200	Enhancers	Psoas Muscle	Psoas
25	chr5:111496000-111496200	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr5:111496000-111496200	Enhancers	Right Atrium	heart
27	chr5:111496000-111496200	Enhancers	Stomach Mucosa	stomach
28	chr5:111496000-111496200	Enhancers	Thymus	Thymus
29	chr5:111496000-111496200	Enhancers	HepG2	liver
30	chr5:111496000-111496200	Enhancers	HMEC	breast
31	chr5:111496000-111496200	Flanking Active TSS	HUVEC	blood vessel
32	chr5:111496000-111496200	Enhancers	K562	blood
33	chr5:111496000-111496400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr5:111496000-111496400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr5:111496000-111496400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr5:111496000-111496400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
37	chr5:111496000-111496400	Flanking Active TSS	Primary hematopoietic stem cells	blood
38	chr5:111496000-111496400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
39	chr5:111496000-111496400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr5:111496000-111496400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
41	chr5:111496000-111496400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
42	chr5:111496000-111496400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr5:111496000-111496400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
44	chr5:111496000-111496400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
45	chr5:111496000-111496400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr5:111496000-111496400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr5:111496000-111496400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr5:111496000-111496400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr5:111496000-111496400	Flanking Active TSS	Adipose Nuclei	Adipose
50	chr5:111496000-111496400	Flanking Active TSS	Liver	Liver

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