Variant report

Variant	nsv966525
Chromosome Location	chr4:74786364-74795947
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:74528131..74529022-chr4:74788987..74789641,3	MCF-7	breast:
2	chr4:74762185..74764051-chr4:74784801..74787079,2	K562	blood:
3	chr4:74779846..74782803-chr4:74788960..74790766,2	K562	blood:
4	chr4:74780043..74783645-chr4:74784041..74787591,3	K562	blood:
5	chr4:74780772..74782815-chr4:74785831..74788410,2	K562	blood:
6	chr4:74788453..74789959-chr4:74902384..74905210,2	K562	blood:
7	chr4:74785754..74787961-chr4:74924087..74926749,2	K562	blood:
8	chr4:74528518..74529057-chr4:74788798..74789482,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CXCL1-2	chr4:74794883-74794976	NONHSAT096874

No data

Variant related genes	Relation type
ENSG00000163734	chromatin interactions

Extended variants
information (count: 392 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:392 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541336140	chr4:74786382-74786383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs181409143	chr4:74786395-74786396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs372820781	chr4:74786437-74786438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs2367435	chr4:74786458-74786459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs186909740	chr4:74786503-74786504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs150418101	chr4:74786521-74786522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533526612	chr4:74786541-74786542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs368744108	chr4:74786580-74786581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552007279	chr4:74786595-74786596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs352035	chr4:74786628-74786629	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs115624062	chr4:74786650-74786651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191330375	chr4:74786682-74786683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567176855	chr4:74786739-74786740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs534634095	chr4:74786769-74786770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183214145	chr4:74786785-74786786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571527341	chr4:74786815-74786816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565356626	chr4:74786837-74786838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs34943257	chr4:74786870-74786871	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs648318	chr4:74786871-74786872	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs186044209	chr4:74786874-74786875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs2117721	chr4:74786885-74786886	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs190623746	chr4:74786909-74786910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7435866	chr4:74786925-74786926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538597280	chr4:74786941-74786942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182309956	chr4:74786943-74786944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200351398	chr4:74786965-74786966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559749400	chr4:74786987-74786988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs573198707	chr4:74787037-74787038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs578261872	chr4:74787066-74787067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545609536	chr4:74787067-74787068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368413902	chr4:74787088-74787089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs375847878	chr4:74787134-74787135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs352034	chr4:74787138-74787139	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs530597531	chr4:74787139-74787140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs6819566	chr4:74787142-74787143	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs145987925	chr4:74787147-74787148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528034965	chr4:74787201-74787202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs546575784	chr4:74787236-74787237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs571202446	chr4:74787245-74787246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs532311654	chr4:74787252-74787253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs550343842	chr4:74787299-74787300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs568684378	chr4:74787344-74787345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs72855222	chr4:74787437-74787438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187789106	chr4:74787476-74787477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs13117734	chr4:74787503-74787504	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs534705589	chr4:74787510-74787511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs2564595	chr4:74787527-74787528	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs114674166	chr4:74787541-74787542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs13112134	chr4:74787545-74787546	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs528931715	chr4:74787577-74787578	Weak transcription	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
Non-small cell lung cancer	21829676	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	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
Colorectal cancer	16272173	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Abnormal phenotypes	18644119	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	20932292	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74784000-74788400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:74784200-74788200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr4:74784200-74788200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr4:74784200-74788200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr4:74784200-74788600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr4:74784600-74788800	Weak transcription	Hela-S3	cervix
7	chr4:74785800-74788600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr4:74785800-74791600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr4:74786000-74788200	Weak transcription	HSMMtube	muscle
10	chr4:74786000-74788400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr4:74786000-74788400	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr4:74786000-74788600	Weak transcription	NHEK	skin
13	chr4:74786000-74788800	Weak transcription	HSMM	muscle
14	chr4:74786000-74793800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr4:74787200-74787400	Enhancers	Colon Smooth Muscle	Colon
16	chr4:74788000-74789200	Enhancers	HUVEC	blood vessel
17	chr4:74788000-74789400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr4:74788200-74788400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr4:74788200-74788600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr4:74788200-74789000	Enhancers	HSMMtube	muscle
21	chr4:74788200-74789200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr4:74788200-74789400	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr4:74788400-74789200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr4:74788400-74789200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr4:74788400-74789200	Enhancers	Muscle Satellite Cultured Cells	--
26	chr4:74788400-74789400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr4:74788600-74789200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr4:74788600-74789200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr4:74788600-74789200	Enhancers	NHEK	skin
30	chr4:74788600-74789400	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr4:74788800-74789200	Enhancers	Hela-S3	cervix
32	chr4:74788800-74789200	Enhancers	HSMM	muscle
33	chr4:74789000-74789200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr4:74789200-74794200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr4:74789200-74794600	Weak transcription	NHEK	skin
36	chr4:74791600-74793600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr4:74793600-74797200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr4:74793800-74795200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr4:74794200-74795400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr4:74794600-74795400	Enhancers	NHEK	skin

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