Variant report

Variant	nsv1006975
Chromosome Location	chr4:91268174-91298909
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	chr4:91278349-91278602	HepG2	liver:	n/a	n/a
2	BHLHE40	chr4:91270854-91271174	GM12878	blood:	n/a	n/a
3	BRCA1	chr4:91274904-91275061	GM12878	blood:	n/a	n/a
4	CBX3	chr4:91278288-91278689	HCT-116	colon:	n/a	n/a
5	CEBPB	chr4:91286208-91286270	HepG2	liver:	n/a	n/a
6	CEBPB	chr4:91278353-91278605	A549	lung:	n/a	n/a
7	CTCF	chr4:91278380-91278530	AG04449	skin:	n/a	chr4:91278461-91278482 chr4:91278459-91278477
8	CTCF	chr4:91278371-91278567	SK-N-SH_RA	brain:	n/a	chr4:91278461-91278482 chr4:91278459-91278477
9	CTCF	chr4:91278277-91278665	IMR90	lung:	n/a	chr4:91278461-91278482 chr4:91278459-91278477
10	CTCF	chr4:91278383-91278553	Kidney_OC	kidney:	n/a	chr4:91278461-91278482 chr4:91278459-91278477
11	CTCF	chr4:91278380-91278530	BJ	skin:	n/a	chr4:91278461-91278482 chr4:91278459-91278477
12	CTCF	chr4:91278344-91278574	LNCaP	prostate:	n/a	chr4:91278461-91278482 chr4:91278459-91278477
13	CTCF	chr4:91278428-91278502	MCF-7	breast:	n/a	chr4:91278461-91278482 chr4:91278459-91278477
14	CTCF	chr4:91278380-91278530	Hela-S3	cervix:	n/a	chr4:91278461-91278482 chr4:91278459-91278477
15	CTCF	chr4:91278383-91278544	Spleen_OC	spleen:	n/a	chr4:91278461-91278482 chr4:91278459-91278477
16	CTCF	chr4:91278349-91278575	Gliobla	brain:	n/a	chr4:91278461-91278482 chr4:91278459-91278477
17	CTCF	chr4:91278420-91278570	WERI-Rb-1	eye:	n/a	chr4:91278461-91278482 chr4:91278459-91278477
18	CTCF	chr4:91278351-91278566	Pancreas_OC	pancreas:	n/a	chr4:91278461-91278482 chr4:91278459-91278477
19	CTCF	chr4:91278320-91278470	HVMF	connective:	n/a	n/a
20	CTCF	chr4:91278380-91278530	GM12864	blood:	n/a	chr4:91278461-91278482 chr4:91278459-91278477
21	CTCF	chr4:91278096-91278734	SK-N-SH	brain:	n/a	chr4:91278461-91278482 chr4:91278459-91278477
22	CTCF	chr4:91278360-91278510	NHEK	skin:	n/a	chr4:91278461-91278482 chr4:91278459-91278477
23	CTCF	chr4:91278393-91278528	GM10248	blood:	n/a	chr4:91278461-91278482 chr4:91278459-91278477
24	CTCF	chr4:91278380-91278530	GM12873	blood:	n/a	chr4:91278461-91278482 chr4:91278459-91278477
25	CTCF	chr4:91278367-91278556	HepG2	liver:	n/a	chr4:91278461-91278482 chr4:91278459-91278477
26	CTCF	chr4:91278500-91278650	HFF-Myc	foreskin:	n/a	n/a
27	CTCF	chr4:91278400-91278550	Hela-S3	cervix:	n/a	chr4:91278461-91278482 chr4:91278459-91278477
28	CTCF	chr4:91278380-91278530	AG09319	gingival:	n/a	chr4:91278461-91278482 chr4:91278459-91278477
29	CTCF	chr4:91278345-91278576	LNCaP	prostate:	n/a	chr4:91278461-91278482 chr4:91278459-91278477
30	CTCF	chr4:91278380-91278530	K562	blood:	n/a	chr4:91278461-91278482 chr4:91278459-91278477
31	CTCF	chr4:91278380-91278530	HEK293	kidney:	n/a	chr4:91278461-91278482 chr4:91278459-91278477
32	CTCF	chr4:91278273-91278657	GM12878	blood:	n/a	chr4:91278461-91278482 chr4:91278459-91278477
33	CTCF	chr4:91278339-91278633	A549	lung:	n/a	chr4:91278461-91278482 chr4:91278459-91278477
34	CTCF	chr4:91278340-91278490	AoAF	blood vessel:	n/a	chr4:91278461-91278482 chr4:91278459-91278477
35	CTCF	chr4:91278400-91278550	HEEpiC	esophagus:	n/a	chr4:91278461-91278482 chr4:91278459-91278477
36	CTCF	chr4:91278420-91278570	GM12871	blood:	n/a	chr4:91278461-91278482 chr4:91278459-91278477
37	CTCF	chr4:91278320-91278470	GM12872	blood:	n/a	n/a
38	CTCF	chr4:91278400-91278550	SAEC	small airway:	n/a	chr4:91278461-91278482 chr4:91278459-91278477
39	CTCF	chr4:91278400-91278550	GM12873	blood:	n/a	chr4:91278461-91278482 chr4:91278459-91278477
40	CTCF	chr4:91278400-91278550	HCPEpiC	choroid plexus:	n/a	chr4:91278461-91278482 chr4:91278459-91278477
41	CTCF	chr4:91278360-91278510	SAEC	small airway:	n/a	chr4:91278461-91278482 chr4:91278459-91278477
42	CTCF	chr4:91278380-91278530	HCM	heart:	n/a	chr4:91278461-91278482 chr4:91278459-91278477
43	CTCF	chr4:91278340-91278490	GM12870	blood:	n/a	chr4:91278461-91278482 chr4:91278459-91278477
44	CTCF	chr4:91278420-91278570	NHDF-neo	bronchial:	n/a	chr4:91278461-91278482 chr4:91278459-91278477
45	CTCF	chr4:91278360-91278510	HFF	foreskin:	n/a	chr4:91278461-91278482 chr4:91278459-91278477
46	CTCF	chr4:91278440-91278590	MCF-7	breast:	n/a	chr4:91278461-91278482 chr4:91278459-91278477
47	CTCF	chr4:91278440-91278590	GM12864	blood:	n/a	chr4:91278461-91278482 chr4:91278459-91278477
48	CTCF	chr4:91278379-91278540	MCF-7	breast:	n/a	chr4:91278461-91278482 chr4:91278459-91278477
49	CTCF	chr4:91278360-91278510	GM12874	blood:	n/a	chr4:91278461-91278482 chr4:91278459-91278477
50	CTCF	chr4:91278380-91278530	HRPEpiC	eye:	n/a	chr4:91278461-91278482 chr4:91278459-91278477

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:91268568..91271022-chr4:91272053..91274584,2	K562	blood:
2	chr4:91268568..91271022-chr4:91272053..91274584,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MMRN1-4	chr4:91291274-91291578	NONHSAT097410

Variant related genes	Relation type
RN7SKP248	TF binding region

Extended variants
information (count: 633 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:633 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536951469	chr4:91268187-91268188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs182434948	chr4:91268202-91268203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577053952	chr4:91268219-91268220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs546214245	chr4:91268252-91268253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs187435598	chr4:91268275-91268276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577803788	chr4:91268301-91268302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs374485376	chr4:91268313-91268314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs72881663	chr4:91268319-91268320	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs368273990	chr4:91268327-91268328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542307587	chr4:91268329-91268330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562274845	chr4:91268338-91268339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs71596522	chr4:91268462-91268463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs369999301	chr4:91268463-91268464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs144052659	chr4:91268470-91268471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184263613	chr4:91268494-91268495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370850224	chr4:91268496-91268497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs35636292	chr4:91268503-91268504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190794349	chr4:91268504-91268505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550889577	chr4:91268716-91268717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564837606	chr4:91268717-91268718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533440400	chr4:91268741-91268742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs34895827	chr4:91268819-91268820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs544855088	chr4:91268837-91268838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551780337	chr4:91268839-91268840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565305000	chr4:91268869-91268870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534422773	chr4:91268877-91268878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs193019845	chr4:91268901-91268902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs567813404	chr4:91268980-91268981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs537293265	chr4:91269033-91269034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs527334300	chr4:91269054-91269055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs556861937	chr4:91269073-91269074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577097046	chr4:91269117-91269118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs367766758	chr4:91269220-91269221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184482482	chr4:91269230-91269231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs62312889	chr4:91269233-91269234	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs189054967	chr4:91269271-91269272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542344187	chr4:91269297-91269298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562207952	chr4:91269363-91269364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112923663	chr4:91269444-91269445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs72881666	chr4:91269483-91269484	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs111693683	chr4:91269485-91269486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188578722	chr4:91269504-91269505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181742058	chr4:91269531-91269532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs558928270	chr4:91269559-91269560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12642077	chr4:91269591-91269592	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs149616513	chr4:91269601-91269602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs568182128	chr4:91269627-91269628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs59354419	chr4:91269677-91269678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs17016827	chr4:91269682-91269683	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs570519663	chr4:91269703-91269704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Multiple myeloma	17550852	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	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
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
Acute monocytic leukemia	16498392	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Parkinson disease	20877625	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Obesity	20622171	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	20164920	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:91244600-91270200	Weak transcription	Pancreas	Pancrea
2	chr4:91258600-91274800	Weak transcription	Left Ventricle	heart
3	chr4:91267400-91270400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr4:91267400-91270600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr4:91267400-91270600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr4:91270400-91271600	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr4:91270600-91271200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr4:91270600-91271200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr4:91273800-91274200	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr4:91274400-91278400	Weak transcription	Fetal Kidney	kidney
11	chr4:91274800-91275000	Enhancers	Left Ventricle	heart
12	chr4:91278400-91278800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr4:91278400-91278800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr4:91278400-91278800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr4:91278400-91278800	Enhancers	Fetal Kidney	kidney
16	chr4:91278400-91279000	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr4:91278600-91279000	Enhancers	Muscle Satellite Cultured Cells	--
18	chr4:91289200-91291800	Weak transcription	Fetal Intestine Small	intestine
19	chr4:91294800-91295200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr4:91296400-91325000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr4:91296800-91297200	Enhancers	Left Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links