Variant report

Variant	nsv519228
Chromosome Location	chr4:95277311-95292702
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	chr4:95284488-95284708	K562	blood:	n/a	n/a
2	BHLHE40	chr4:95284798-95284904	K562	blood:	n/a	n/a
3	CTCF	chr4:95279340-95279490	WI-38	lung:	n/a	n/a
4	CTCF	chr4:95277840-95277990	MCF-7	breast:	n/a	n/a
5	CTCF	chr4:95282296-95282364	GM13976	blood:	n/a	n/a
6	CTCF	chr4:95277720-95277870	HEK293	kidney:	n/a	n/a
7	CTCF	chr4:95277643-95277927	K562	blood:	n/a	n/a
8	CTCF	chr4:95277620-95277770	BE2_C	brain:	n/a	n/a
9	CTCF	chr4:95277700-95277850	BE2_C	brain:	n/a	n/a
10	CTCF	chr4:95277581-95277853	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr4:95283636-95283695	GM10266	blood:	n/a	n/a
12	CTCF	chr4:95277720-95277870	MCF-7	breast:	n/a	n/a
13	CTCF	chr4:95277700-95277850	A549	lung:	n/a	n/a
14	EP300	chr4:95285776-95286124	SK-N-SH_RA	brain:	n/a	n/a
15	EP300	chr4:95285724-95286161	SK-N-SH_RA	brain:	n/a	n/a
16	EP300	chr4:95284298-95286517	SK-N-SH	brain:	n/a	chr4:95284547-95284561 chr4:95284548-95284562 chr4:95284576-95284585 chr4:95284546-95284560 chr4:95284572-95284586 chr4:95284415-95284425
17	EP300	chr4:95285181-95285718	SK-N-SH_RA	brain:	n/a	n/a
18	EP300	chr4:95285202-95285660	SK-N-SH_RA	brain:	n/a	n/a
19	EP300	chr4:95283996-95284787	K562	blood:	n/a	chr4:95284547-95284561 chr4:95284548-95284562 chr4:95284576-95284585 chr4:95284546-95284560 chr4:95284572-95284586 chr4:95284415-95284425
20	FOS	chr4:95286469-95286798	HUVEC	blood vessel:	n/a	chr4:95286589-95286598
21	FOS	chr4:95278997-95279053	MCF10A-Er-Src	breast:	n/a	chr4:95279010-95279020 chr4:95279010-95279020 chr4:95279011-95279019 chr4:95279009-95279021
22	FOS	chr4:95278833-95279044	MCF10A-Er-Src	breast:	n/a	chr4:95279010-95279020 chr4:95279010-95279020 chr4:95279011-95279019 chr4:95278911-95278922 chr4:95279009-95279021
23	FOS	chr4:95278841-95279044	MCF10A-Er-Src	breast:	n/a	chr4:95279010-95279020 chr4:95279010-95279020 chr4:95279011-95279019 chr4:95278911-95278922 chr4:95279009-95279021
24	FOS	chr4:95278750-95279180	HUVEC	blood vessel:	n/a	chr4:95279010-95279020 chr4:95279010-95279020 chr4:95279011-95279019 chr4:95278911-95278922 chr4:95279009-95279021
25	FOS	chr4:95284315-95284831	HUVEC	blood vessel:	n/a	chr4:95284574-95284583 chr4:95284400-95284409
26	FOS	chr4:95278844-95279030	MCF10A-Er-Src	breast:	n/a	chr4:95279010-95279020 chr4:95279010-95279020 chr4:95279011-95279019 chr4:95278911-95278922 chr4:95279009-95279021
27	GATA2	chr4:95284224-95285136	HUVEC	blood vessel:	n/a	chr4:95284593-95284614 chr4:95284595-95284609 chr4:95284531-95284552 chr4:95284600-95284607 chr4:95284596-95284612 chr4:95284574-95284584 chr4:95284599-95284609 chr4:95284600-95284607 chr4:95284600-95284607 chr4:95284596-95284612
28	GATA2	chr4:95278776-95279293	HUVEC	blood vessel:	n/a	n/a
29	GATA3	chr4:95285520-95286223	SK-N-SH	brain:	n/a	n/a
30	GATA3	chr4:95285635-95286187	SH-SY5Y	brain:	n/a	n/a
31	GATA3	chr4:95281240-95281440	SH-SY5Y	brain:	n/a	n/a
32	GATA3	chr4:95285543-95286166	SK-N-SH	brain:	n/a	n/a
33	GATA3	chr4:95290067-95290413	T-47D	breast:	n/a	n/a
34	HCFC1	chr4:95284863-95284883	K562	blood:	n/a	n/a
35	IRF1	chr4:95291695-95291851	K562	blood:	n/a	chr4:95291764-95291773
36	JUND	chr4:95284453-95284653	K562	blood:	n/a	chr4:95284574-95284583
37	MAFK	chr4:95284619-95284803	K562	blood:	n/a	chr4:95284786-95284802 chr4:95284787-95284801
38	MAFK	chr4:95290448-95290642	IMR90	lung:	n/a	chr4:95290585-95290601 chr4:95290588-95290605 chr4:95290585-95290596 chr4:95290502-95290511 chr4:95290586-95290597 chr4:95290585-95290596 chr4:95290501-95290511
39	MAFK	chr4:95290374-95290722	HepG2	liver:	n/a	chr4:95290585-95290601 chr4:95290588-95290605 chr4:95290585-95290596 chr4:95290502-95290511 chr4:95290586-95290597 chr4:95290585-95290596 chr4:95290501-95290511
40	MAFK	chr4:95290445-95290514	K562	blood:	n/a	chr4:95290502-95290511 chr4:95290501-95290511
41	MAFK	chr4:95283034-95283181	HepG2	liver:	n/a	n/a
42	NFYA	chr4:95286170-95286499	GM12878	blood:	n/a	n/a
43	POLR2A	chr4:95284178-95284799	HUVEC	blood vessel:	n/a	n/a
44	POLR2A	chr4:95284556-95284649	HUVEC	blood vessel:	n/a	n/a
45	POLR2A	chr4:95289580-95289985	H1-neurons	neurons:	n/a	n/a
46	POLR2A	chr4:95289578-95290076	H1-neurons	neurons:	n/a	n/a
47	POLR2A	chr4:95291877-95292008	ProgFib	skin:	n/a	n/a
48	RAD21	chr4:95285817-95286060	SK-N-SH_RA	brain:	n/a	n/a
49	RAD21	chr4:95277775-95277790	HepG2	liver:	n/a	n/a
50	RCOR1	chr4:95291521-95291801	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:95266109..95267658-chr4:95291382..95293915,2	K562	blood:
2	chr4:95287113..95289121-chr4:95292704..95294329,2	K562	blood:
3	chr4:95271686..95274646-chr4:95276963..95280087,3	K562	blood:
4	chr4:95273532..95276407-chr4:95279365..95281043,2	MCF-7	breast:
5	chr4:95273594..95275499-chr4:95275872..95278720,2	K562	blood:
6	chr4:95281322..95284168-chr4:95287394..95289244,2	K562	blood:
7	chr4:95292208..95293752-chr4:95298604..95300235,2	K562	blood:
8	chr4:95285373..95288161-chr4:95288745..95292306,3	K562	blood:
9	chr4:95281322..95284168-chr4:95287394..95289244,2	K562	blood:
10	chr4:95228153..95229914-chr4:95279241..95281912,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SMARCAD1-1	chr4:95290984-95291314	NONHSAT097447

Variant related genes	Relation type
ENSG00000241103	TF binding region
ENSG00000241103	chromatin interactions

Extended variants
information (count: 455 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:455 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6532481	chr4:95277311-95277312	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs567109534	chr4:95277350-95277351	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576975279	chr4:95277356-95277357	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536059807	chr4:95277387-95277388	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs540536423	chr4:95277413-95277414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs6532482	chr4:95277414-95277415	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs537428815	chr4:95277428-95277429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs151007433	chr4:95277437-95277438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs577858224	chr4:95277522-95277523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540563490	chr4:95277605-95277606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181266763	chr4:95277676-95277677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573452026	chr4:95277697-95277698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542432665	chr4:95277699-95277700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561811149	chr4:95277719-95277720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531066457	chr4:95277778-95277779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs34733873	chr4:95277867-95277868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs114750667	chr4:95277910-95277911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs376881015	chr4:95277926-95277927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564550270	chr4:95277930-95277931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs10020236	chr4:95277993-95277994	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs569549004	chr4:95278011-95278012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs9997915	chr4:95278027-95278028	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs567194081	chr4:95278142-95278143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs78034681	chr4:95278184-95278185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549633744	chr4:95278200-95278201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558056912	chr4:95278218-95278219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs74688746	chr4:95278232-95278233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs185320697	chr4:95278274-95278275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs540770405	chr4:95278303-95278304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs34415889	chr4:95278403-95278404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs397939511	chr4:95278411-95278412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189739550	chr4:95278458-95278459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs544028326	chr4:95278481-95278482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574112579	chr4:95278484-95278485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs1593554	chr4:95278501-95278502	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs533559036	chr4:95278625-95278626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs1593553	chr4:95278670-95278671	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs530702133	chr4:95278680-95278681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573611894	chr4:95278689-95278690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542395764	chr4:95278694-95278695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182348572	chr4:95278717-95278718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs555967000	chr4:95278741-95278742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs78536411	chr4:95278780-95278781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544732135	chr4:95278793-95278794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs562822072	chr4:95278852-95278853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs114237319	chr4:95278861-95278862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs374084676	chr4:95278911-95278912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187847192	chr4:95278914-95278915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs560753771	chr4:95278958-95278959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs192104631	chr4:95279132-95279133	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Autism	22495311	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
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Cancer	19907438	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95274000-95279000	Weak transcription	HUVEC	blood vessel
2	chr4:95277200-95277400	Enhancers	Placenta	Placenta
3	chr4:95279000-95279400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr4:95279000-95279400	Enhancers	HUVEC	blood vessel
5	chr4:95279000-95279400	Enhancers	Osteobl	bone
6	chr4:95279000-95279600	Enhancers	Muscle Satellite Cultured Cells	--
7	chr4:95279400-95283400	Weak transcription	HUVEC	blood vessel
8	chr4:95279400-95284400	Weak transcription	Osteobl	bone
9	chr4:95279400-95284600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr4:95279600-95284600	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr4:95283200-95285200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr4:95283400-95284400	Enhancers	HUVEC	blood vessel
13	chr4:95284200-95284800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr4:95284200-95285000	Enhancers	NH-A	brain
15	chr4:95284400-95284800	Flanking Active TSS	HUVEC	blood vessel
16	chr4:95284400-95285000	Enhancers	K562	blood
17	chr4:95284400-95285600	Enhancers	Osteobl	bone
18	chr4:95284600-95285000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr4:95284600-95285000	Enhancers	Muscle Satellite Cultured Cells	--
20	chr4:95284600-95285200	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr4:95284800-95287600	Enhancers	HUVEC	blood vessel
22	chr4:95285000-95286000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr4:95285000-95286200	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr4:95285000-95286600	Weak transcription	NH-A	brain
25	chr4:95285600-95286600	Weak transcription	Osteobl	bone
26	chr4:95286000-95287200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr4:95286200-95287000	Enhancers	Muscle Satellite Cultured Cells	--
28	chr4:95286600-95286800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr4:95286600-95287000	Enhancers	NH-A	brain
30	chr4:95286600-95287000	Enhancers	Osteobl	bone
31	chr4:95290000-95290600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr4:95291200-95291800	Enhancers	Fetal Muscle Leg	muscle
33	chr4:95291200-95291800	Enhancers	K562	blood
34	chr4:95291800-95293200	Weak transcription	Fetal Muscle Leg	muscle
35	chr4:95291800-95306200	Weak transcription	K562	blood

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