Variant report

Variant	nsv1020327
Chromosome Location	chr4:129859624-129914665
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	chr4:129866424-129866624	K562	blood:	n/a	n/a
2	ARID3A	chr4:129879403-129879765	HepG2	liver:	n/a	n/a
3	BACH1	chr4:129901252-129901452	K562	blood:	n/a	n/a
4	BACH1	chr4:129902627-129902712	H1-hESC	embryonic stem cell:	n/a	n/a
5	CBX3	chr4:129901088-129901449	HCT-116	colon:	n/a	n/a
6	CCNT2	chr4:129861639-129861803	K562	blood:	n/a	n/a
7	CEBPB	chr4:129900239-129900408	IMR90	lung:	n/a	n/a
8	CEBPB	chr4:129879348-129879753	HepG2	liver:	n/a	chr4:129879570-129879581 chr4:129879569-129879582
9	CEBPB	chr4:129879409-129879619	HepG2	liver:	n/a	chr4:129879570-129879581 chr4:129879569-129879582
10	CEBPB	chr4:129879382-129879762	HepG2	liver:	n/a	chr4:129879570-129879581 chr4:129879569-129879582
11	CEBPB	chr4:129905481-129905590	A549	lung:	n/a	chr4:129905546-129905557
12	CEBPB	chr4:129862212-129862459	H1-hESC	embryonic stem cell:	n/a	n/a
13	CEBPB	chr4:129879390-129879701	MCF-7	breast:	n/a	chr4:129879570-129879581 chr4:129879569-129879582
14	CEBPB	chr4:129905387-129905697	HepG2	liver:	n/a	chr4:129905546-129905557
15	CEBPB	chr4:129879417-129879725	MCF-7	breast:	n/a	chr4:129879570-129879581 chr4:129879569-129879582
16	CEBPB	chr4:129905450-129905683	IMR90	lung:	n/a	chr4:129905546-129905557
17	CEBPB	chr4:129905491-129905623	K562	blood:	n/a	chr4:129905546-129905557
18	CEBPB	chr4:129900241-129900308	K562	blood:	n/a	n/a
19	CEBPB	chr4:129862172-129862511	K562	blood:	n/a	n/a
20	CEBPB	chr4:129879390-129879707	HepG2	liver:	n/a	chr4:129879570-129879581 chr4:129879569-129879582
21	CEBPB	chr4:129862245-129862448	K562	blood:	n/a	n/a
22	CEBPB	chr4:129862131-129862536	K562	blood:	n/a	n/a
23	CTCF	chr4:129866380-129866530	HepG2	liver:	n/a	chr4:129866497-129866505
24	CTCF	chr4:129866300-129866450	BE2_C	brain:	n/a	n/a
25	CTCF	chr4:129866380-129866530	BJ	skin:	n/a	chr4:129866497-129866505
26	CTCF	chr4:129893702-129893732	Lung_OC	lung:	n/a	n/a
27	CTCF	chr4:129866269-129866615	MCF-7	breast:	n/a	chr4:129866497-129866505
28	CTCF	chr4:129866479-129866540	LNCaP	prostate:	n/a	chr4:129866497-129866505
29	CTCF	chr4:129866280-129866430	HVMF	connective:	n/a	n/a
30	CTCF	chr4:129866428-129866519	HUVEC	blood vessel:	n/a	chr4:129866497-129866505
31	CTCF	chr4:129866400-129866550	HMF	breast:	n/a	chr4:129866497-129866505
32	CTCF	chr4:129866437-129866523	Hela-S3	cervix:	n/a	chr4:129866497-129866505
33	CTCF	chr4:129866444-129866548	Spleen_OC	spleen:	n/a	chr4:129866497-129866505
34	CTCF	chr4:129866355-129866634	GM12878	blood:	n/a	chr4:129866497-129866505
35	CTCF	chr4:129866400-129866550	MCF-7	breast:	n/a	chr4:129866497-129866505
36	CTCF	chr4:129866461-129866570	LNCaP	prostate:	n/a	chr4:129866497-129866505
37	CTCF	chr4:129866440-129866590	MCF-7	breast:	n/a	chr4:129866497-129866505
38	CTCF	chr4:129909745-129909760	LNCaP	prostate:	n/a	n/a
39	CTCF	chr4:129866460-129866610	AG04450	lung:	n/a	chr4:129866497-129866505
40	CTCF	chr4:129907007-129907040	Pancreas_OC	pancreas:	n/a	n/a
41	CTCF	chr4:129866400-129866550	WERI-Rb-1	eye:	n/a	chr4:129866497-129866505
42	CTCF	chr4:129866360-129866510	HPAF	blood vessel:	n/a	chr4:129866497-129866505
43	E2F4	chr4:129898148-129898227	MCF10A-Er-Src	breast:	n/a	n/a
44	E2F4	chr4:129909781-129909867	MCF10A-Er-Src	breast:	n/a	n/a
45	E2F4	chr4:129901216-129901466	MCF10A-Er-Src	breast:	n/a	n/a
46	ELF1	chr4:129879336-129879680	HepG2	liver:	n/a	n/a
47	ELF1	chr4:129879331-129879712	HepG2	liver:	n/a	n/a
48	EP300	chr4:129900958-129901483	ECC-1	luminal epithelium:	n/a	n/a
49	EP300	chr4:129895145-129895767	SK-N-SH_RA	brain:	n/a	n/a
50	EP300	chr4:129901060-129901360	SK-N-SH_RA	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:129902026..129904676-chr4:129907660..129909341,2	K562	blood:
2	chr4:129902026..129904676-chr4:129907660..129909341,2	K562	blood:
3	chr4:129886935..129889219-chr4:130012773..130015050,2	K562	blood:
4	chr4:129883398..129885861-chr4:129887383..129889705,3	K562	blood:
5	chr4:129883398..129885861-chr4:129887383..129889705,3	K562	blood:
6	chr4:129885302..129888048-chr4:129911143..129913987,2	K562	blood:
7	chr4:129869703..129871375-chr4:129874757..129876510,2	K562	blood:
8	chr4:129893731..129895681-chr4:129897472..129899242,2	K562	blood:
9	chr4:129900386..129903021-chr4:129908411..129910284,2	MCF-7	breast:
10	chr4:129900386..129903021-chr4:129908411..129910284,2	MCF-7	breast:
11	chr4:129869703..129871375-chr4:129874757..129876510,2	K562	blood:
12	chr4:129885302..129888048-chr4:129911143..129913987,2	K562	blood:
13	chr4:129883398..129885861-chr4:129887383..129889506,2	K562	blood:
14	chr4:129896690..129899278-chr4:129899361..129901444,2	MCF-7	breast:
15	chr4:129863629..129866387-chr4:129870052..129872955,2	K562	blood:
16	chr4:129896690..129899278-chr4:129899361..129901444,2	MCF-7	breast:
17	chr4:129883398..129885861-chr4:129887383..129889506,2	K562	blood:
18	chr4:129893731..129895681-chr4:129897472..129899242,2	K562	blood:
19	chr4:129881359..129883041-chr4:129899761..129902463,2	K562	blood:
20	chr4:129863629..129866387-chr4:129870052..129872955,2	K562	blood:
21	chr4:129881359..129883041-chr4:129899761..129902463,2	K562	blood:

Variant related genes	Relation type
SCLT1	TF binding region
ENSG00000151466	chromatin interactions
ENSG00000151470	chromatin interactions

Extended variants
information (count: 1942 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:1942 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561569004	chr4:129859662-129859663	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs573217587	chr4:129859711-129859712	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181373664	chr4:129859716-129859717	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs184371107	chr4:129859762-129859763	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs79860932	chr4:129859797-129859798	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577583879	chr4:129859846-129859847	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs189196023	chr4:129859855-129859856	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs182213756	chr4:129859864-129859865	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs186003397	chr4:129859900-129859901	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs530228031	chr4:129859947-129859948	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs541937323	chr4:129859950-129859951	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs190923984	chr4:129859967-129859968	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs550096225	chr4:129859974-129859975	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs181306960	chr4:129859997-129859998	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs570264568	chr4:129860008-129860009	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs551729265	chr4:129860033-129860034	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs570419523	chr4:129860076-129860077	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs531459082	chr4:129860094-129860095	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs369014509	chr4:129860101-129860102	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs549796914	chr4:129860132-129860133	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs375993853	chr4:129860143-129860144	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs114193172	chr4:129860169-129860170	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs535269129	chr4:129860256-129860257	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs538333220	chr4:129860257-129860258	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs555079004	chr4:129860281-129860282	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs185896124	chr4:129860282-129860283	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs560469677	chr4:129860303-129860304	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs534205532	chr4:129860311-129860312	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs558952294	chr4:129860324-129860325	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs552270547	chr4:129860334-129860335	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs577302231	chr4:129860365-129860366	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs544968201	chr4:129860367-129860368	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs556557867	chr4:129860396-129860397	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs190245423	chr4:129860410-129860411	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs35612387	chr4:129860501-129860502	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs542026408	chr4:129860542-129860543	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs560216526	chr4:129860577-129860578	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs527341198	chr4:129860633-129860634	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs374975106	chr4:129860640-129860641	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs182877203	chr4:129860659-129860660	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs79198844	chr4:129860686-129860687	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs6812474	chr4:129860695-129860696	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs13149221	chr4:129860709-129860710	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs550074598	chr4:129860732-129860733	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs114552382	chr4:129860738-129860739	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs139787777	chr4:129860779-129860780	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs6835359	chr4:129860794-129860795	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs115897231	chr4:129860857-129860858	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs554192191	chr4:129860867-129860868	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs534331408	chr4:129860905-129860906	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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

Chromatin state (count:735 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129793800-129907200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr4:129794400-129860200	Weak transcription	Thymus	Thymus
3	chr4:129821400-129867800	Weak transcription	Fetal Intestine Small	intestine
4	chr4:129829800-129873000	Weak transcription	Brain Substantia Nigra	brain
5	chr4:129834400-129862800	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr4:129834800-129907400	Weak transcription	Aorta	Aorta
7	chr4:129837600-129888200	Weak transcription	Duodenum Mucosa	Duodenum
8	chr4:129839400-129860200	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr4:129839400-129862800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr4:129839600-129882800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr4:129839800-129862200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr4:129839800-129882800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr4:129839800-129907800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr4:129840600-129863400	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr4:129841000-129907400	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr4:129842200-129863400	Weak transcription	Fetal Lung	lung
17	chr4:129843600-129888000	Weak transcription	Fetal Muscle Leg	muscle
18	chr4:129844800-129867200	Weak transcription	Left Ventricle	heart
19	chr4:129845000-129882800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr4:129845400-129907400	Weak transcription	Brain Hippocampus Middle	brain
21	chr4:129845800-129907200	Weak transcription	Ovary	ovary
22	chr4:129846200-129863000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr4:129846200-129863400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr4:129846400-129860200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr4:129847200-129862600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr4:129847600-129863200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr4:129847800-129862800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr4:129847800-129863000	Weak transcription	Fetal Intestine Large	intestine
29	chr4:129847800-129863000	Weak transcription	NH-A	brain
30	chr4:129847800-129863600	Weak transcription	Primary T cells from cord blood	blood
31	chr4:129847800-129895400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr4:129848200-129860600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr4:129848800-129867600	Weak transcription	Fetal Stomach	stomach
34	chr4:129849000-129863400	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr4:129849600-129863400	Weak transcription	Adipose Nuclei	Adipose
36	chr4:129850200-129860600	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr4:129850600-129869600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr4:129851000-129863000	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr4:129851000-129879000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr4:129851400-129862800	Weak transcription	Liver	Liver
41	chr4:129851600-129860400	Weak transcription	GM12878-XiMat	blood
42	chr4:129851600-129863000	Weak transcription	Psoas Muscle	Psoas
43	chr4:129851600-129863600	Weak transcription	NHDF-Ad	bronchial
44	chr4:129851600-129867800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr4:129854600-129870000	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr4:129855000-129862800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr4:129855200-129907800	Weak transcription	K562	blood
48	chr4:129855400-129871400	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr4:129855400-129895200	Weak transcription	Fetal Kidney	kidney
50	chr4:129855800-129861400	Strong transcription	Monocytes-CD14+_RO01746	blood

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