Variant report

Variant	rs577569878
Chromosome Location	chr5:52775322-52775323
allele	-/CAACTTT
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	CHD1	chr5:52773963-52779659	IMR90	lung:	n/a	chr5:52776596-52776606 chr5:52777700-52777710 chr5:52776601-52776611
2	POLR2A	chr5:52775052-52780368	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr5:52774386-52777094	HepG2	liver:	n/a	n/a
4	TBP	chr5:52775130-52775966	HepG2	liver:	n/a	n/a
5	CEBPB	chr5:52775228-52775559	K562	blood:	n/a	chr5:52775386-52775397 chr5:52775385-52775398
6	RAD21	chr5:52775233-52775959	IMR90	lung:	n/a	n/a
7	E2F4	chr5:52775248-52776115	MCF10A-Er-Src	breast:	n/a	chr5:52775806-52775821 chr5:52775810-52775822
8	GATA3	chr5:52774106-52777467	SK-N-SH	brain:	n/a	chr5:52774928-52774936 chr5:52776733-52776741
9	MAX	chr5:52775297-52776857	A549	lung:	n/a	chr5:52776181-52776191 chr5:52775968-52775978 chr5:52775515-52775525
10	CEBPB	chr5:52775242-52775758	H1-hESC	embryonic stem cell:	n/a	chr5:52775386-52775397 chr5:52775385-52775398
11	STAT3	chr5:52775246-52775489	MCF10A-Er-Src	breast:	n/a	n/a
12	TEAD4	chr5:52775279-52776150	SK-N-SH	brain:	n/a	n/a
13	MXI1	chr5:52775095-52779435	IMR90	lung:	n/a	n/a
14	POLR2A	chr5:52775103-52775831	H1-neurons	neurons:	n/a	n/a
15	NFIC	chr5:52775251-52775751	HepG2	liver:	n/a	n/a
16	CEBPB	chr5:52775182-52775612	MCF-7	breast:	n/a	chr5:52775386-52775397 chr5:52775385-52775398
17	POLR2A	chr5:52775291-52775968	Hela-S3	cervix:	n/a	n/a
18	MBD4	chr5:52774075-52775671	HepG2	liver:	n/a	n/a
19	HEY1	chr5:52774155-52777346	HepG2	liver:	n/a	chr5:52776435-52776450 chr5:52776602-52776617 chr5:52774757-52774772
20	POLR2A	chr5:52774375-52780496	HepG2	liver:	n/a	n/a
21	NFIC	chr5:52775149-52776398	SK-N-SH	brain:	n/a	n/a
22	CEBPB	chr5:52775145-52775612	ECC-1	luminal epithelium:	n/a	chr5:52775386-52775397 chr5:52775385-52775398
23	CEBPB	chr5:52775231-52775598	HepG2	liver:	n/a	chr5:52775386-52775397 chr5:52775385-52775398
24	CEBPB	chr5:52775204-52775648	Hela-S3	cervix:	n/a	chr5:52775386-52775397 chr5:52775385-52775398
25	MYC	chr5:52775241-52775472	H1-hESC	embryonic stem cell:	n/a	n/a
26	CREB1	chr5:52775303-52776721	HepG2	liver:	n/a	n/a
27	RCOR1	chr5:52775318-52775742	Hela-S3	cervix:	n/a	n/a
28	CEBPB	chr5:52775212-52775570	A549	lung:	n/a	chr5:52775386-52775397 chr5:52775385-52775398
29	CEBPB	chr5:52775177-52775524	ECC-1	luminal epithelium:	n/a	chr5:52775386-52775397 chr5:52775385-52775398
30	SMC3	chr5:52775254-52775642	Hela-S3	cervix:	n/a	n/a
31	MAX	chr5:52775298-52776853	HepG2	liver:	n/a	chr5:52776181-52776191 chr5:52775968-52775978 chr5:52775515-52775525
32	CEBPB	chr5:52775219-52775569	HepG2	liver:	n/a	chr5:52775386-52775397 chr5:52775385-52775398
33	CEBPB	chr5:52775079-52775658	A549	lung:	n/a	chr5:52775386-52775397 chr5:52775385-52775398
34	PBX3	chr5:52775296-52776526	SK-N-SH	brain:	n/a	n/a
35	EP300	chr5:52775176-52777032	SK-N-SH	brain:	n/a	chr5:52775256-52775265 chr5:52775427-52775441 chr5:52775543-52775552 chr5:52776515-52776531 chr5:52775383-52775397
36	MYBL2	chr5:52775115-52775698	HepG2	liver:	n/a	n/a
37	HEY1	chr5:52775021-52777484	HepG2	liver:	n/a	chr5:52776435-52776450 chr5:52776602-52776617
38	POLR2A	chr5:52774388-52779438	IMR90	lung:	n/a	n/a
39	MAX	chr5:52775312-52776542	SK-N-SH	brain:	n/a	chr5:52776181-52776191 chr5:52775968-52775978 chr5:52775515-52775525
40	PBX3	chr5:52775232-52776606	SK-N-SH	brain:	n/a	n/a
41	CEBPB	chr5:52775163-52775606	A549	lung:	n/a	chr5:52775386-52775397 chr5:52775385-52775398
42	POLR2A	chr5:52775202-52775958	MCF10A-Er-Src	breast:	n/a	n/a
43	REST	chr5:52775054-52776520	HepG2	liver:	n/a	n/a
44	TCF12	chr5:52775087-52776554	A549	lung:	n/a	chr5:52775338-52775346
45	ARID3A	chr5:52774070-52775568	HepG2	liver:	n/a	n/a
46	CEBPB	chr5:52775122-52775638	MCF-7	breast:	n/a	chr5:52775386-52775397 chr5:52775385-52775398
47	POLR2A	chr5:52775032-52776803	HepG2	liver:	n/a	n/a
48	GATA3	chr5:52775278-52776540	SK-N-SH	brain:	n/a	n/a
49	POLR2A	chr5:52775256-52775891	HepG2	liver:	n/a	n/a
50	STAT3	chr5:52775257-52775536	MCF10A-Er-Src	breast:	n/a	chr5:52775511-52775523

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:56735383..56737636-chr5:52775178..52776995,2	MCF-7	breast:

Variant related genes	Relation type
FST	TF binding region
ENSG00000202077	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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	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
5	esv3412161	chr5:52775245-52777493	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52774200-52775400	Bivalent/Poised TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr5:52774200-52775400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
3	chr5:52774200-52775600	Flanking Active TSS	Liver	Liver
4	chr5:52774200-52775800	Flanking Active TSS	Adipose Nuclei	Adipose
5	chr5:52774200-52776600	Active TSS	H1 Cell Line	embryonic stem cell
6	chr5:52774200-52776600	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr5:52774200-52776600	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr5:52774200-52776600	Active TSS	Ovary	ovary
9	chr5:52774200-52776600	Active TSS	Stomach Smooth Muscle	stomach
10	chr5:52774200-52776800	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr5:52774200-52776800	Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr5:52774200-52776800	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr5:52774200-52777200	Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr5:52774200-52777400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:52774200-52778200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr5:52774200-52778800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr5:52774200-52778800	Active TSS	Osteobl	bone
18	chr5:52774200-52779000	Active TSS	Colon Smooth Muscle	Colon
19	chr5:52774200-52779200	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr5:52774400-52775400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr5:52774400-52775400	Active TSS	Colonic Mucosa	Colon
22	chr5:52774400-52775600	Bivalent/Poised TSS	Fetal Kidney	kidney
23	chr5:52774400-52775600	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
24	chr5:52774400-52775800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
25	chr5:52774400-52776000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr5:52774400-52776600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr5:52774400-52776600	Active TSS	Muscle Satellite Cultured Cells	--
28	chr5:52774400-52776600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr5:52774400-52776600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr5:52774400-52776600	Active TSS	Esophagus	oesophagus
31	chr5:52774400-52776600	Active TSS	Pancreas	Pancrea
32	chr5:52774400-52776600	Active TSS	Skeletal Muscle Male	skeletal muscle
33	chr5:52774400-52776600	Active TSS	Skeletal Muscle Female	skeletal muscle
34	chr5:52774400-52776600	Active TSS	NH-A	brain
35	chr5:52774400-52778200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr5:52774400-52778400	Active TSS	Right Ventricle	heart
37	chr5:52774400-52778400	Bivalent/Poised TSS	Thymus	Thymus
38	chr5:52774400-52778600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr5:52774400-52778600	Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr5:52774400-52778600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr5:52774400-52778600	Active TSS	Aorta	Aorta
42	chr5:52774400-52778800	Active TSS	HUES64 Cell Line	embryonic stem cell
43	chr5:52774400-52778800	Active TSS	Hela-S3	cervix
44	chr5:52774400-52778800	Active TSS	HSMM	muscle
45	chr5:52774400-52778800	Active TSS	HSMMtube	muscle
46	chr5:52774400-52778800	Active TSS	NHDF-Ad	bronchial
47	chr5:52774400-52779000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
48	chr5:52774400-52779000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr5:52774400-52779000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr5:52774400-52779000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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