Variant report

Variant	nsv822718
Chromosome Location	chr4:130014371-130014826
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:485)
CpG islands
(count:610)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:485 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:130014556-130015267	HepG2	liver:	n/a	chr4:130014887-130014895
2	ATF1	chr4:130014172-130015144	K562	blood:	n/a	chr4:130014748-130014762
3	ATF2	chr4:130014383-130014987	GM12878	blood:	n/a	chr4:130014748-130014762
4	ATF2	chr4:130014507-130014954	H1-hESC	embryonic stem cell:	n/a	chr4:130014748-130014762
5	ATF2	chr4:130014346-130014936	H1-hESC	embryonic stem cell:	n/a	chr4:130014748-130014762
6	ATF2	chr4:130014395-130015120	GM12878	blood:	n/a	chr4:130014748-130014762
7	ATF3	chr4:130014505-130014936	A549	lung:	n/a	n/a
8	ATF3	chr4:130014555-130014881	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF3	chr4:130014580-130014919	HepG2	liver:	n/a	n/a
10	ATF3	chr4:130014529-130015004	K562	blood:	n/a	n/a
11	ATF3	chr4:130014572-130014918	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF3	chr4:130014626-130014909	K562	blood:	n/a	n/a
13	BACH1	chr4:130014389-130014661	H1-hESC	embryonic stem cell:	n/a	n/a
14	BATF	chr4:130014609-130014911	GM12878	blood:	n/a	n/a
15	BCLAF1	chr4:130014041-130015090	GM12878	blood:	n/a	chr4:130014626-130014639 chr4:130014891-130014900 chr4:130014631-130014640
16	BCLAF1	chr4:130013874-130014893	GM12878	blood:	n/a	chr4:130014626-130014639 chr4:130014631-130014640
17	BCLAF1	chr4:130014313-130014987	K562	blood:	n/a	chr4:130014626-130014639 chr4:130014891-130014900 chr4:130014631-130014640
18	BHLHE40	chr4:130014366-130015018	HepG2	liver:	n/a	n/a
19	BHLHE40	chr4:130013812-130015273	GM12878	blood:	n/a	n/a
20	BHLHE40	chr4:130013898-130015258	K562	blood:	n/a	n/a
21	BRCA1	chr4:130014400-130014767	HepG2	liver:	n/a	n/a
22	BRCA1	chr4:130014380-130014906	H1-hESC	embryonic stem cell:	n/a	n/a
23	BRCA1	chr4:130014368-130014922	GM12878	blood:	n/a	n/a
24	BRCA1	chr4:130013927-130015098	Hela-S3	cervix:	n/a	n/a
25	CBX3	chr4:130014184-130015098	K562	blood:	n/a	n/a
26	CCNT2	chr4:130014297-130014979	K562	blood:	n/a	n/a
27	CEBPB	chr4:130014287-130014969	A549	lung:	n/a	n/a
28	CEBPB	chr4:130014601-130014909	K562	blood:	n/a	n/a
29	CEBPB	chr4:130014462-130015003	ECC-1	luminal epithelium:	n/a	n/a
30	CEBPB	chr4:130014349-130015125	A549	lung:	n/a	n/a
31	CEBPB	chr4:130014343-130015021	HepG2	liver:	n/a	n/a
32	CEBPB	chr4:130014530-130015035	A549	lung:	n/a	n/a
33	CEBPB	chr4:130014584-130014972	ECC-1	luminal epithelium:	n/a	n/a
34	CEBPB	chr4:130014511-130015150	MCF-7	breast:	n/a	n/a
35	CEBPB	chr4:130014219-130015076	K562	blood:	n/a	chr4:130014280-130014293
36	CEBPB	chr4:130014196-130015046	Hela-S3	cervix:	n/a	chr4:130014280-130014293
37	CEBPB	chr4:130014478-130015070	MCF-7	breast:	n/a	n/a
38	CEBPB	chr4:130014615-130014902	HepG2	liver:	n/a	n/a
39	CEBPB	chr4:130014365-130015113	HCT-116	colon:	n/a	n/a
40	CEBPB	chr4:130014263-130015199	HCT-116	colon:	n/a	chr4:130014280-130014293
41	CEBPB	chr4:130014284-130015014	IMR90	lung:	n/a	n/a
42	CEBPB	chr4:130014253-130015093	H1-hESC	embryonic stem cell:	n/a	chr4:130014280-130014293
43	CEBPB	chr4:130014311-130014984	HepG2	liver:	n/a	n/a
44	CEBPB	chr4:130014566-130014931	HepG2	liver:	n/a	n/a
45	CEBPB	chr4:130014408-130015067	K562	blood:	n/a	n/a
46	CEBPD	chr4:130014508-130014919	HepG2	liver:	n/a	n/a
47	CEBPD	chr4:130014496-130015055	K562	blood:	n/a	n/a
48	CEBPD	chr4:130014331-130015102	K562	blood:	n/a	n/a
49	CEBPD	chr4:130014578-130014895	HepG2	liver:	n/a	n/a
50	CHD1	chr4:130013782-130015486	GM12878	blood:	n/a	n/a

(count:610 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:130014711-130014761	AG09309	skin:	n/a
2	chr4:130014778-130014828	AG04449	skin:	fetal
3	chr4:130014699-130014749	AoSMC	blood vessel:	n/a
4	chr4:130014818-130014868	HCT-116	colon:	n/a
5	chr4:130014800-130014850	AG09319	gingival:	n/a
6	chr4:130014437-130014487	AoSMC	blood vessel:	n/a
7	chr4:130014437-130014487	HCPEpiC	choroid plexus:	n/a
8	chr4:130014711-130014761	HAEpiC	amniotic membrane:	n/a
9	chr4:130014704-130014754	MCF10A-Er-Src	breast:	n/a
10	chr4:130014711-130014761	Hela-S3	cervix:	n/a
11	chr4:130014687-130014737	SK-N-SH_RA	brain:	n/a
12	chr4:130014699-130014749	HCPEpiC	choroid plexus:	n/a
13	chr4:130014699-130014749	U87	brain:	n/a
14	chr4:130014699-130014749	HMEC	breast:	n/a
15	chr4:130014369-130014419	GM06990	blood:	n/a
16	chr4:130014369-130014419	NT2-D1	testis:	n/a
17	chr4:130014800-130014850	HL-60	blood:	n/a
18	chr4:130014369-130014419	SK-N-MC	brain:	n/a
19	chr4:130014711-130014761	Hepatocyte	liver:	n/a
20	chr4:130014500-130014550	SK-N-SH	brain:	n/a
21	chr4:130014711-130014761	HEEpiC	esophagus:	n/a
22	chr4:130014778-130014828	HPAEpiC	pulmonary alveolar:	n/a
23	chr4:130014800-130014850	PrEC	prostate:	n/a
24	chr4:130014818-130014868	HUVEC	blood vessel:	n/a
25	chr4:130014800-130014850	NT2-D1	testis:	n/a
26	chr4:130014704-130014754	HRE	kidney:	n/a
27	chr4:130014500-130014550	HEEpiC	esophagus:	n/a
28	chr4:130014369-130014419	T-47D	breast:	n/a
29	chr4:130014687-130014737	HPAEpiC	pulmonary alveolar:	n/a
30	chr4:130014818-130014868	HRCEpiC	kidney:	n/a
31	chr4:130014699-130014749	GM19239	blood:	n/a
32	chr4:130014778-130014828	NB4	blood:	n/a
33	chr4:130014699-130014749	GM12891	blood:	n/a
34	chr4:130014369-130014419	HRCEpiC	kidney:	n/a
35	chr4:130014778-130014828	ProgFib	skin:	n/a
36	chr4:130014687-130014737	ProgFib	skin:	n/a
37	chr4:130014711-130014761	HCT-116	colon:	n/a
38	chr4:130014711-130014761	HRE	kidney:	n/a
39	chr4:130014800-130014850	HUVEC	blood vessel:	n/a
40	chr4:130014778-130014828	BJ	skin:	n/a
41	chr4:130014800-130014850	HRCEpiC	kidney:	n/a
42	chr4:130014437-130014487	HRPEpiC	eye:	n/a
43	chr4:130014699-130014749	IMR90	lung:	fetal
44	chr4:130014778-130014828	Hepatocyte	liver:	n/a
45	chr4:130014699-130014749	HEEpiC	esophagus:	n/a
46	chr4:130014818-130014868	NB4	blood:	n/a
47	chr4:130014699-130014749	HIPEpiC	eye:	n/a
48	chr4:130014800-130014850	HAEpiC	amniotic membrane:	n/a
49	chr4:130014711-130014761	AG04449	skin:	fetal
50	chr4:130014699-130014749	NB4	blood:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:57741752..57742372-chr4:130014273..130014863,2	HCT-116	colon:
2	chr4:129730340..129733748-chr4:130013373..130016609,5	K562	blood:
3	chr4:128703531..128705249-chr4:130014655..130017577,2	K562	blood:
4	chr4:130012621..130015537-chr4:130015842..130017627,2	K562	blood:
5	chr1:160231636..160232491-chr4:130014484..130015051,2	Hela-S3	cervix:
6	chr1:113161412..113162381-chr4:130014290..130014835,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
SCLT1	TF binding region
C4orf33	TF binding region
SCLT1	CpG island
C4orf33	CpG island
ENSG00000163681	chromatin interactions
ENSG00000151470	chromatin interactions
ENSG00000132716	chromatin interactions
ENSG00000164070	chromatin interactions
ENSG00000007341	chromatin interactions
ENSG00000116489	chromatin interactions
ENSG00000077684	chromatin interactions

Extended variants
information (count: 19 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555804190	chr4:130014398-130014399	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs542163014	chr4:130014404-130014405	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs371846468	chr4:130014405-130014406	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs116400787	chr4:130014409-130014410	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs541397835	chr4:130014418-130014419	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs553705142	chr4:130014452-130014453	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs2592957	chr4:130014475-130014476	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs571780137	chr4:130014521-130014522	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs148112081	chr4:130014607-130014608	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs35123116	chr4:130014608-130014609	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs73848904	chr4:130014640-130014641	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs72927922	chr4:130014677-130014678	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs530655031	chr4:130014703-130014704	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
14	rs542376496	chr4:130014732-130014733	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
15	rs561002205	chr4:130014748-130014749	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
16	rs554226328	chr4:130014752-130014753	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
17	rs528083622	chr4:130014758-130014759	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
18	rs546186899	chr4:130014809-130014810	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
19	rs189509956	chr4:130014819-130014820	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Olfactory neuroblastoma	18408657	CNVD
Developmental delay	21147756	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	20967226	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:138 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:130011200-130016000	Active TSS	NHLF	lung
2	chr4:130011200-130016400	Active TSS	GM12878-XiMat	blood
3	chr4:130012000-130015000	Active TSS	NHDF-Ad	bronchial
4	chr4:130012200-130015400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr4:130012200-130015400	Active TSS	A549	lung
6	chr4:130012400-130015800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr4:130012600-130014400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
8	chr4:130012600-130015800	Active TSS	Brain Hippocampus Middle	brain
9	chr4:130012800-130015400	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr4:130012800-130015400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr4:130012800-130015400	Active TSS	Fetal Muscle Trunk	muscle
12	chr4:130012800-130015400	Active TSS	HMEC	breast
13	chr4:130012800-130015600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr4:130012800-130018600	Active TSS	K562	blood
15	chr4:130013000-130014800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr4:130013000-130015000	Active TSS	Rectal Smooth Muscle	rectum
17	chr4:130013000-130015000	Active TSS	Hela-S3	cervix
18	chr4:130013000-130015200	Active TSS	H9 Cell Line	embryonic stem cell
19	chr4:130013000-130015200	Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr4:130013000-130015400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr4:130013000-130015400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr4:130013000-130015400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr4:130013000-130015400	Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr4:130013200-130015000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr4:130013200-130015200	Active TSS	Esophagus	oesophagus
26	chr4:130013200-130015200	Active TSS	Fetal Kidney	kidney
27	chr4:130013200-130015400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr4:130013200-130015400	Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr4:130013200-130015400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr4:130013200-130015400	Active TSS	Aorta	Aorta
31	chr4:130013200-130015400	Active TSS	Brain Cingulate Gyrus	brain
32	chr4:130013200-130015400	Active TSS	Colon Smooth Muscle	Colon
33	chr4:130013200-130015400	Active TSS	Fetal Stomach	stomach
34	chr4:130013200-130015600	Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr4:130013400-130015200	Active TSS	H1 Cell Line	embryonic stem cell
36	chr4:130013400-130015200	Active TSS	Placenta	Placenta
37	chr4:130013400-130015200	Active TSS	Pancreas	Pancrea
38	chr4:130013400-130015200	Active TSS	Sigmoid Colon	Sigmoid Colon
39	chr4:130013400-130015200	Active TSS	HSMMtube	muscle
40	chr4:130013400-130015400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr4:130013400-130015400	Active TSS	Colonic Mucosa	Colon
42	chr4:130013400-130015400	Active TSS	Fetal Intestine Large	intestine
43	chr4:130013400-130015400	Active TSS	Psoas Muscle	Psoas
44	chr4:130013400-130015400	Active TSS	Right Atrium	heart
45	chr4:130013400-130015400	Active TSS	Right Ventricle	heart
46	chr4:130013400-130015400	Active TSS	Thymus	Thymus
47	chr4:130013400-130015600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr4:130013400-130015600	Active TSS	Fetal Muscle Leg	muscle
49	chr4:130013400-130015800	Active TSS	Brain Inferior Temporal Lobe	brain
50	chr4:130013600-130015000	Active TSS	Breast Myoepithelial Primary Cells	Breast

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