Variant report

Variant	esv3465247
Chromosome Location	chr4:48911194-48912201
allele	n/a
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	ARID3A	chr4:48911807-48911825	K562	blood:	n/a	n/a
2	ATF1	chr4:48911677-48911998	K562	blood:	n/a	n/a
3	ATF3	chr4:48911714-48911975	K562	blood:	n/a	n/a
4	BHLHE40	chr4:48911813-48911816	K562	blood:	n/a	n/a
5	BRCA1	chr4:48911711-48911993	Hela-S3	cervix:	n/a	n/a
6	CBX3	chr4:48911527-48912230	HCT-116	colon:	n/a	n/a
7	CBX3	chr4:48911680-48912106	K562	blood:	n/a	n/a
8	CEBPB	chr4:48911607-48912112	IMR90	lung:	n/a	n/a
9	CEBPB	chr4:48911726-48912067	Hela-S3	cervix:	n/a	n/a
10	CHD2	chr4:48911700-48912018	Hela-S3	cervix:	n/a	n/a
11	CTCF	chr4:48911800-48911950	AG04449	skin:	n/a	n/a
12	CTCF	chr4:48911902-48912066	Hela-S3	cervix:	n/a	n/a
13	CTCF	chr4:48911900-48912050	HMEC	breast:	n/a	n/a
14	CTCF	chr4:48911900-48912050	HBMEC	blood vessel:	n/a	n/a
15	CTCF	chr4:48911935-48912028	NHEK	skin:	n/a	n/a
16	CTCF	chr4:48911960-48912110	RPTEC	kidney:	n/a	n/a
17	CTCF	chr4:48911880-48912030	HPAF	blood vessel:	n/a	n/a
18	CTCF	chr4:48911820-48911970	HCM	heart:	n/a	n/a
19	CTCF	chr4:48911600-48911750	AG04450	lung:	n/a	n/a
20	CTCF	chr4:48911880-48912030	AG04449	skin:	n/a	n/a
21	CTCF	chr4:48911860-48912010	AG09319	gingival:	n/a	n/a
22	CTCF	chr4:48911740-48911890	HCPEpiC	choroid plexus:	n/a	n/a
23	CUX1	chr4:48911724-48911812	K562	blood:	n/a	n/a
24	ELK1	chr4:48911687-48911934	Hela-S3	cervix:	n/a	n/a
25	EP300	chr4:48911516-48912057	SK-N-SH_RA	brain:	n/a	n/a
26	EP300	chr4:48911520-48912063	SK-N-SH_RA	brain:	n/a	n/a
27	EP300	chr4:48911707-48912026	Hela-S3	cervix:	n/a	n/a
28	EP300	chr4:48911339-48912316	SK-N-SH	brain:	n/a	n/a
29	FOS	chr4:48911615-48912118	MCF10A-Er-Src	breast:	n/a	chr4:48911851-48911860 chr4:48911850-48911861
30	FOS	chr4:48911586-48912146	MCF10A-Er-Src	breast:	n/a	chr4:48911851-48911860 chr4:48911850-48911861
31	FOS	chr4:48911587-48912114	MCF10A-Er-Src	breast:	n/a	chr4:48911851-48911860 chr4:48911850-48911861
32	FOS	chr4:48911635-48912119	MCF10A-Er-Src	breast:	n/a	chr4:48911851-48911860 chr4:48911850-48911861
33	FOS	chr4:48911562-48912184	HUVEC	blood vessel:	n/a	chr4:48911851-48911860 chr4:48911850-48911861
34	FOS	chr4:48911236-48911352	MCF10A-Er-Src	breast:	n/a	n/a
35	FOSL1	chr4:48911490-48912155	HCT-116	colon:	n/a	chr4:48911851-48911860 chr4:48911850-48911861
36	FOSL1	chr4:48911731-48911995	K562	blood:	n/a	chr4:48911851-48911860 chr4:48911850-48911861
37	FOSL1	chr4:48911577-48912061	K562	blood:	n/a	chr4:48911851-48911860 chr4:48911850-48911861
38	FOSL1	chr4:48911546-48912204	HCT-116	colon:	n/a	chr4:48911851-48911860 chr4:48911850-48911861
39	FOSL2	chr4:48911608-48912032	MCF-7	breast:	n/a	chr4:48911851-48911860
40	FOSL2	chr4:48911652-48912057	A549	lung:	n/a	chr4:48911851-48911860
41	FOSL2	chr4:48911537-48912199	SK-N-SH	brain:	n/a	chr4:48911851-48911860
42	FOSL2	chr4:48911457-48912260	SK-N-SH	brain:	n/a	chr4:48911851-48911860
43	FOSL2	chr4:48911734-48911993	HepG2	liver:	n/a	chr4:48911851-48911860
44	FOSL2	chr4:48911575-48912151	A549	lung:	n/a	chr4:48911851-48911860
45	GATA2	chr4:48911665-48912023	HUVEC	blood vessel:	n/a	chr4:48911850-48911859
46	GATA3	chr4:48911315-48912297	SK-N-SH	brain:	n/a	chr4:48911477-48911498 chr4:48911850-48911859
47	GATA3	chr4:48911371-48912311	SK-N-SH	brain:	n/a	chr4:48911477-48911498 chr4:48911850-48911859
48	GTF2F1	chr4:48911698-48912055	Hela-S3	cervix:	n/a	n/a
49	HCFC1	chr4:48911818-48911887	K562	blood:	n/a	n/a
50	JUN	chr4:48911671-48912083	K562	blood:	n/a	chr4:48911851-48911860

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:48912027-48912077	HPAEpiC	pulmonary alveolar:	n/a
2	chr4:48912027-48912077	NB4	blood:	n/a
3	chr4:48912027-48912077	PANC-1	pancreas:	n/a
4	chr4:48912027-48912077	GM12891	blood:	n/a
5	chr4:48912027-48912077	Hela-S3	cervix:	n/a
6	chr4:48912027-48912077	SKMC	muscle:	n/a
7	chr4:48912027-48912077	HNPCEpiC	eye:	n/a
8	chr4:48912027-48912077	AG04450	lung:	fetal
9	chr4:48912027-48912077	PrEC	prostate:	n/a
10	chr4:48912027-48912077	HRPEpiC	eye:	n/a
11	chr4:48912027-48912077	NHBE	bronchial:	n/a
12	chr4:48912027-48912077	A549	lung:	n/a
13	chr4:48912027-48912077	SK-N-SH	brain:	n/a
14	chr4:48912027-48912077	Hepatocyte	liver:	n/a
15	chr4:48912027-48912077	HRCEpiC	kidney:	n/a
16	chr4:48912027-48912077	HEEpiC	esophagus:	n/a
17	chr4:48912027-48912077	HCT-116	colon:	n/a
18	chr4:48912027-48912077	AG04449	skin:	fetal
19	chr4:48912027-48912077	AG10803	skin:	n/a
20	chr4:48912027-48912077	IMR90	lung:	fetal
21	chr4:48912027-48912077	SK-N-MC	brain:	n/a
22	chr4:48912027-48912077	ECC-1	luminal epithelium:	n/a
23	chr4:48912027-48912077	HEK293	kidney:	embryo
24	chr4:48912027-48912077	LNCaP	prostate:	n/a
25	chr4:48912027-48912077	Jurkat	blood:	n/a
26	chr4:48912027-48912077	HCM	heart:	n/a
27	chr4:48912027-48912077	Caco-2	colon:	n/a
28	chr4:48912027-48912077	CMK	blood:	n/a
29	chr4:48912027-48912077	AG09309	skin:	n/a
30	chr4:48912027-48912077	SK-N-SH_RA	brain:	n/a
31	chr4:48912027-48912077	K562	blood:	n/a
32	chr4:48912027-48912077	BE2_C	brain:	n/a
33	chr4:48912027-48912077	NHDF-neo	bronchial:	n/a
34	chr4:48912027-48912077	GM12892	blood:	n/a
35	chr4:48912027-48912077	HUVEC	blood vessel:	n/a
36	chr4:48912027-48912077	NT2-D1	testis:	n/a
37	chr4:48912027-48912077	ProgFib	skin:	n/a
38	chr4:48912027-48912077	HCF	heart:	n/a
39	chr4:48912027-48912077	GM19239	blood:	n/a
40	chr4:48912027-48912077	NH-A	brain:	n/a
41	chr4:48912027-48912077	ovcar-3	ovarian:	n/a
42	chr4:48912027-48912077	H1-hESC	embryonic stem cell:	embryo
43	chr4:48912027-48912077	HepG2	liver:	n/a
44	chr4:48912027-48912077	MCF-7	breast:	n/a
45	chr4:48912027-48912077	U87	brain:	n/a
46	chr4:48912027-48912077	AG09319	gingival:	n/a
47	chr4:48912027-48912077	HAEpiC	amniotic membrane:	n/a
48	chr4:48912027-48912077	T-47D	breast:	n/a
49	chr4:48912027-48912077	AoSMC	blood vessel:	n/a
50	chr4:48912027-48912077	HRE	kidney:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:48908480..48910327-chr4:48912176..48914944,2	MCF-7	breast:
2	chr4:48907689..48909984-chr4:48910157..48911988,2	MCF-7	breast:

Variant related genes	Relation type
OCIAD2	TF binding region
OCIAD2	CpG island
ENSG00000145247	chromatin interactions

Extended variants
information (count: 30 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548208583	chr4:48911215-48911216	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs567957141	chr4:48911217-48911218	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs138062690	chr4:48911247-48911248	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs2605234	chr4:48911260-48911261	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs571889766	chr4:48911307-48911308	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs539248468	chr4:48911417-48911418	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs143517699	chr4:48911478-48911479	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs575731966	chr4:48911521-48911522	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs183852339	chr4:48911526-48911527	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs565628675	chr4:48911561-48911562	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs554949914	chr4:48911562-48911563	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs56196120	chr4:48911616-48911617	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs374548350	chr4:48911619-48911620	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs540155901	chr4:48911626-48911627	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs147140254	chr4:48911639-48911640	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs138623689	chr4:48911705-48911706	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs544429830	chr4:48911739-48911740	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs528328516	chr4:48911762-48911763	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs374535354	chr4:48911841-48911842	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs77920396	chr4:48911976-48911977	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs547829251	chr4:48912023-48912024	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs560205735	chr4:48912026-48912027	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs2572349	chr4:48912028-48912029	Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs188564119	chr4:48912069-48912070	Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
25	rs142906921	chr4:48912096-48912097	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs538846750	chr4:48912135-48912136	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs551198943	chr4:48912163-48912164	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs569204609	chr4:48912165-48912166	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs79527248	chr4:48912175-48912176	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs570256468	chr4:48912196-48912197	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Breast cancer	16272173	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48909000-48911200	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr4:48909000-48911200	Weak transcription	HSMM	muscle
3	chr4:48909000-48911200	Weak transcription	HSMMtube	muscle
4	chr4:48909000-48911400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr4:48909200-48911200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr4:48909200-48911400	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr4:48909200-48911400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr4:48909200-48911600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr4:48909200-48911600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr4:48909200-48911600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr4:48909200-48914800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr4:48909200-48916200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr4:48909400-48911200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr4:48909400-48911200	Weak transcription	A549	lung
15	chr4:48909400-48914600	Weak transcription	Stomach Smooth Muscle	stomach
16	chr4:48909400-48917200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr4:48909600-48911800	Weak transcription	Primary T cells from cord blood	blood
18	chr4:48909800-48912000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr4:48910000-48911800	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr4:48910000-48913400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr4:48910200-48911200	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr4:48910200-48911800	Enhancers	Placenta Amnion	Placenta Amnion
23	chr4:48910400-48913000	Enhancers	NHEK	skin
24	chr4:48910600-48914600	Weak transcription	Esophagus	oesophagus
25	chr4:48910800-48911200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr4:48910800-48911200	Weak transcription	Stomach Mucosa	stomach
27	chr4:48910800-48911800	Enhancers	NH-A	brain
28	chr4:48910800-48912200	Enhancers	HMEC	breast
29	chr4:48911000-48911600	Enhancers	NHLF	lung
30	chr4:48911000-48911800	Enhancers	Hela-S3	cervix
31	chr4:48911000-48912200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr4:48911000-48912200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr4:48911000-48912200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr4:48911000-48912200	Enhancers	NHDF-Ad	bronchial
35	chr4:48911000-48912200	Enhancers	Osteobl	bone
36	chr4:48911000-48912400	Enhancers	HUVEC	blood vessel
37	chr4:48911000-48912800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr4:48911200-48911800	Enhancers	HSMM	muscle
39	chr4:48911200-48912200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr4:48911200-48912200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr4:48911200-48912200	Enhancers	Muscle Satellite Cultured Cells	--
42	chr4:48911200-48912200	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr4:48911200-48912200	Enhancers	HSMMtube	muscle
44	chr4:48911200-48912800	Enhancers	A549	lung
45	chr4:48911200-48913000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr4:48911200-48913000	Enhancers	Stomach Mucosa	stomach
47	chr4:48911400-48911800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr4:48911400-48912000	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr4:48911400-48912200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr4:48911600-48912000	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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