Variant report

Variant	nsv879706
Chromosome Location	chr4:107477804-107546665
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:0)
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	chr4:107504519..107507510-chr4:107509291..107511512,2	K562	blood:
2	chr4:107516102..107517656-chr4:107517762..107520110,2	MCF-7	breast:
3	chr4:107536764..107539180-chr4:107540230..107542918,2	MCF-7	breast:
4	chr4:107517238..107519426-chr4:107522184..107524453,2	K562	blood:
5	chr4:107516102..107517656-chr4:107517762..107520110,2	MCF-7	breast:
6	chr4:107517238..107519426-chr4:107522184..107524453,2	K562	blood:
7	chr4:107536764..107539180-chr4:107540230..107542918,2	MCF-7	breast:
8	chr4:107504519..107507510-chr4:107509291..107511512,2	K562	blood:

No data

Extended variants
information (count: 2015 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:2015 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2648048	chr4:107477804-107477805	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs188588400	chr4:107477839-107477840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs567524010	chr4:107477871-107477872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs28408828	chr4:107477893-107477894	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs200742251	chr4:107477922-107477923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562969468	chr4:107477943-107477944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs546805581	chr4:107477968-107477969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566525475	chr4:107477974-107477975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538391946	chr4:107477987-107477988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs114889410	chr4:107478021-107478022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181345965	chr4:107478028-107478029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537422250	chr4:107478041-107478042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs4339286	chr4:107478048-107478049	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs112792970	chr4:107478064-107478065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575114035	chr4:107478080-107478081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540549514	chr4:107478097-107478098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs185955412	chr4:107478102-107478103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190668385	chr4:107478117-107478118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs377392766	chr4:107478170-107478171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs146752034	chr4:107478175-107478176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs2866896	chr4:107478227-107478228	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs576526425	chr4:107478276-107478277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542209855	chr4:107478277-107478278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs561919486	chr4:107478290-107478291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530027537	chr4:107478349-107478350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564652547	chr4:107478394-107478395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs80064328	chr4:107478405-107478406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560333172	chr4:107478474-107478475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs532133668	chr4:107478481-107478482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs578109528	chr4:107478484-107478485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551876052	chr4:107478519-107478520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373547309	chr4:107478539-107478540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545395013	chr4:107478564-107478565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs199945304	chr4:107478571-107478572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs2686288	chr4:107478586-107478587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs528012493	chr4:107478604-107478605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549392336	chr4:107478609-107478610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs148910614	chr4:107478613-107478614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs537533789	chr4:107478619-107478620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs183210824	chr4:107478647-107478648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376543516	chr4:107478659-107478660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561184387	chr4:107478671-107478672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs187367177	chr4:107478680-107478681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554130481	chr4:107478684-107478685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs2903417	chr4:107478745-107478746	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs374015929	chr4:107478859-107478860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549912973	chr4:107478861-107478862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556709915	chr4:107478871-107478872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs576644161	chr4:107478881-107478882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs374886404	chr4:107478886-107478887	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
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
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
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	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
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	18000384	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
myeloid cancer	21057493	CNVD
Cognitive impairment	21505072	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:222 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:107470400-107485800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:107485600-107487200	Enhancers	HUVEC	blood vessel
3	chr4:107485800-107486000	Enhancers	HMEC	breast
4	chr4:107485800-107488600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:107486000-107486600	Weak transcription	HMEC	breast
6	chr4:107486200-107487200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr4:107486600-107487200	Enhancers	HMEC	breast
8	chr4:107487000-107487400	Enhancers	NH-A	brain
9	chr4:107487000-107487400	Enhancers	NHEK	skin
10	chr4:107487200-107487600	Flanking Active TSS	HUVEC	blood vessel
11	chr4:107487200-107490000	Weak transcription	HMEC	breast
12	chr4:107487200-107490400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr4:107487400-107487800	Enhancers	Muscle Satellite Cultured Cells	--
14	chr4:107487400-107490000	Weak transcription	NH-A	brain
15	chr4:107487400-107490400	Weak transcription	NHEK	skin
16	chr4:107487600-107488600	Enhancers	HUVEC	blood vessel
17	chr4:107487800-107490400	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr4:107488600-107490000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr4:107488600-107490000	Weak transcription	HUVEC	blood vessel
20	chr4:107489800-107490400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr4:107490000-107490200	Enhancers	Aorta	Aorta
22	chr4:107490000-107490400	Enhancers	NHDF-Ad	bronchial
23	chr4:107490000-107490800	Enhancers	HUVEC	blood vessel
24	chr4:107490000-107491000	Enhancers	NH-A	brain
25	chr4:107490000-107491200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr4:107490000-107491200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr4:107490000-107491200	Enhancers	HMEC	breast
28	chr4:107490200-107491200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr4:107490400-107490600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr4:107490400-107490800	Enhancers	Adipose Nuclei	Adipose
31	chr4:107490400-107490800	Flanking Active TSS	NHDF-Ad	bronchial
32	chr4:107490400-107490800	Enhancers	NHEK	skin
33	chr4:107490400-107491000	Enhancers	Muscle Satellite Cultured Cells	--
34	chr4:107490400-107491200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr4:107490400-107491200	Enhancers	Osteobl	bone
36	chr4:107490600-107490800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr4:107490600-107491200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr4:107490800-107491000	Flanking Active TSS	Adipose Nuclei	Adipose
39	chr4:107490800-107491000	Enhancers	Aorta	Aorta
40	chr4:107490800-107491000	Active TSS	NHDF-Ad	bronchial
41	chr4:107490800-107491200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr4:107491000-107491200	Active TSS	Adipose Nuclei	Adipose
43	chr4:107491000-107491400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr4:107491000-107491600	Flanking Active TSS	NHDF-Ad	bronchial
45	chr4:107491200-107491600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr4:107491200-107503800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr4:107491600-107491800	Enhancers	NHDF-Ad	bronchial
48	chr4:107498000-107498400	Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr4:107498000-107498600	Active TSS	ES-I3 Cell Line	embryonic stem cell
50	chr4:107499800-107500200	Enhancers	H9 Cell Line	embryonic stem cell

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