Variant report

Variant	esv33798
Chromosome Location	chr5:179075713-179078250
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr5:179075535-179075759	HepG2	liver:	n/a	n/a
2	BHLHE40	chr5:179075505-179075756	K562	blood:	n/a	n/a
3	CTCF	chr5:179076103-179076173	Spleen_OC	spleen:	n/a	n/a
4	CTCF	chr5:179078140-179078290	NHDF-neo	bronchial:	n/a	chr5:179078192-179078210
5	E2F6	chr5:179076683-179076795	K562	blood:	n/a	n/a
6	ELF1	chr5:179076235-179076491	K562	blood:	n/a	chr5:179076372-179076385
7	FOXA1	chr5:179075948-179076171	HepG2	liver:	n/a	chr5:179076077-179076089
8	MAX	chr5:179075469-179075831	K562	blood:	n/a	chr5:179075657-179075668 chr5:179075657-179075667 chr5:179075658-179075667 chr5:179075657-179075668 chr5:179075656-179075669 chr5:179075656-179075671
9	MAX	chr5:179075543-179075763	K562	blood:	n/a	chr5:179075657-179075668 chr5:179075657-179075667 chr5:179075658-179075667 chr5:179075657-179075668 chr5:179075656-179075669 chr5:179075656-179075671
10	NR2F2	chr5:179076883-179077240	K562	blood:	n/a	n/a
11	NR2F2	chr5:179076801-179077180	K562	blood:	n/a	n/a
12	PBX3	chr5:179075898-179076022	GM12878	blood:	n/a	chr5:179075989-179075998
13	POLR2A	chr5:179075354-179076708	K562	blood:	n/a	n/a
14	USF1	chr5:179075560-179075762	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:179075765-179075815	SK-N-SH_RA	brain:	n/a
2	chr5:179075765-179075815	SK-N-MC	brain:	n/a
3	chr5:179075765-179075815	HAEpiC	amniotic membrane:	n/a
4	chr5:179075765-179075815	NHDF-neo	bronchial:	n/a
5	chr5:179075765-179075815	U87	brain:	n/a
6	chr5:179075765-179075815	PrEC	prostate:	n/a
7	chr5:179075765-179075815	MCF10A-Er-Src	breast:	n/a
8	chr5:179075765-179075815	BJ	skin:	n/a
9	chr5:179075765-179075815	H1-hESC	embryonic stem cell:	embryo
10	chr5:179075765-179075815	NT2-D1	testis:	n/a
11	chr5:179075765-179075815	GM12891	blood:	n/a
12	chr5:179075765-179075815	ovcar-3	ovarian:	n/a
13	chr5:179075765-179075815	IMR90	lung:	fetal
14	chr5:179075765-179075815	NHBE	bronchial:	n/a
15	chr5:179075765-179075815	HRE	kidney:	n/a
16	chr5:179075765-179075815	HEK293	kidney:	embryo
17	chr5:179075765-179075815	HCT-116	colon:	n/a
18	chr5:179075765-179075815	HRCEpiC	kidney:	n/a
19	chr5:179075765-179075815	ECC-1	luminal epithelium:	n/a
20	chr5:179075765-179075815	HUVEC	blood vessel:	n/a
21	chr5:179075765-179075815	SK-N-SH	brain:	n/a
22	chr5:179075765-179075815	GM19239	blood:	n/a
23	chr5:179075765-179075815	Hela-S3	cervix:	n/a
24	chr5:179075765-179075815	HPAEpiC	pulmonary alveolar:	n/a
25	chr5:179075765-179075815	HCF	heart:	n/a
26	chr5:179075765-179075815	HL-60	blood:	n/a
27	chr5:179075765-179075815	LNCaP	prostate:	n/a
28	chr5:179075765-179075815	Jurkat	blood:	n/a
29	chr5:179075765-179075815	HMEC	breast:	n/a
30	chr5:179075765-179075815	HNPCEpiC	eye:	n/a
31	chr5:179075765-179075815	PANC-1	pancreas:	n/a
32	chr5:179075765-179075815	AG09319	gingival:	n/a
33	chr5:179075765-179075815	Caco-2	colon:	n/a
34	chr5:179075765-179075815	SKMC	muscle:	n/a
35	chr5:179075765-179075815	ProgFib	skin:	n/a
36	chr5:179075765-179075815	NB4	blood:	n/a
37	chr5:179075765-179075815	HepG2	liver:	n/a
38	chr5:179075765-179075815	GM12892	blood:	n/a
39	chr5:179075765-179075815	HIPEpiC	eye:	n/a
40	chr5:179075765-179075815	GM06990	blood:	n/a
41	chr5:179075765-179075815	A549	lung:	n/a
42	chr5:179075765-179075815	MCF-7	breast:	n/a
43	chr5:179075765-179075815	HEEpiC	esophagus:	n/a
44	chr5:179075765-179075815	AG10803	skin:	n/a
45	chr5:179075765-179075815	T-47D	breast:	n/a
46	chr5:179075765-179075815	NH-A	brain:	n/a
47	chr5:179075765-179075815	HRPEpiC	eye:	n/a
48	chr5:179075765-179075815	AoSMC	blood vessel:	n/a
49	chr5:179075765-179075815	HCM	heart:	n/a
50	chr5:179075765-179075815	CMK	blood:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr5:179049010..179052109-chr5:179075423..179078137,6	MCF-7	breast:
2	chr5:178976725..178979261-chr5:179073948..179076733,2	MCF-7	breast:
3	chr5:179049252..179051807-chr5:179078099..179079783,3	MCF-7	breast:
4	chr5:179048380..179051829-chr5:179074872..179077735,3	K562	blood:

No data

Variant related genes	Relation type
C5orf60	TF binding region
ENSG00000228259	TF binding region
C5orf60	CpG island
ENSG00000228259	CpG island
ENSG00000176783	chromatin interactions
ENSG00000169045	chromatin interactions

Extended variants
information (count: 131 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:131 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538300611	chr5:179075729-179075730	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs552054424	chr5:179075741-179075742	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs371860528	chr5:179075748-179075749	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs75784797	chr5:179075759-179075760	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs534508224	chr5:179075765-179075766	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs574179682	chr5:179075822-179075823	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs536992342	chr5:179075837-179075838	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs191507839	chr5:179075850-179075851	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs112392392	chr5:179075877-179075878	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs4343806	chr5:179075908-179075909	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs67811339	chr5:179075916-179075917	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs398093922	chr5:179075919-179075920	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs113789371	chr5:179075934-179075935	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs545006525	chr5:179075947-179075948	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs563202924	chr5:179075956-179075957	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs575185444	chr5:179075962-179075963	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs185663375	chr5:179075969-179075970	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs542387757	chr5:179075988-179075989	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs10039578	chr5:179075989-179075990	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs368405192	chr5:179075993-179075994	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs528313548	chr5:179076000-179076001	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs371795841	chr5:179076004-179076005	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs546669781	chr5:179076018-179076019	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs564830378	chr5:179076077-179076078	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs556643205	chr5:179076087-179076088	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs73809617	chr5:179076219-179076220	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs550609333	chr5:179076239-179076240	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs73809619	chr5:179076302-179076303	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs114407468	chr5:179076372-179076373	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs549733063	chr5:179076377-179076378	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs567838728	chr5:179076468-179076469	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs75223726	chr5:179076495-179076496	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs181620733	chr5:179076500-179076501	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs553386468	chr5:179076505-179076506	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs571662112	chr5:179076561-179076562	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs144559137	chr5:179076574-179076575	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs556960459	chr5:179076592-179076593	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs372835599	chr5:179076597-179076598	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs559416019	chr5:179076609-179076610	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs542501901	chr5:179076623-179076624	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs185571824	chr5:179076635-179076636	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs545595085	chr5:179076663-179076664	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs572945263	chr5:179076691-179076692	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs566099060	chr5:179076699-179076700	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs540062351	chr5:179076711-179076712	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs564957203	chr5:179076712-179076713	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs532275199	chr5:179076738-179076739	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs367823175	chr5:179076741-179076742	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs544345913	chr5:179076757-179076758	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs73336072	chr5:179076759-179076760	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179052200-179085400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:179070800-179078000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:179075400-179075800	Enhancers	Fetal Muscle Leg	muscle
4	chr5:179075400-179076800	Enhancers	Fetal Muscle Trunk	muscle
5	chr5:179076200-179076600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:179076200-179076800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr5:179076400-179076600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr5:179078000-179078200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr5:179078000-179078400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr5:179078000-179078400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr5:179078200-179078400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr5:179078200-179085400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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