Variant report

Variant	nsv964255
Chromosome Location	chr4:76761215-76773429
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:76760282..76762958-chr4:76763569..76766222,2	MCF-7	breast:
2	chr4:76498357..76499621-chr4:76769117..76770116,10	K562	blood:
3	chr4:76575506..76578468-chr4:76770062..76772274,2	MCF-7	breast:
4	chr4:76746532..76748297-chr4:76763794..76766234,2	MCF-7	breast:
5	chr4:76498264..76499501-chr4:76769042..76769962,9	MCF-7	breast:
6	chr4:76497998..76498857-chr4:76769092..76770235,3	MCF-7	breast:
7	chr4:76497545..76500510-chr4:76767738..76769614,2	MCF-7	breast:
8	chr4:76741166..76744063-chr4:76769113..76771616,2	MCF-7	breast:
9	chr4:76760282..76762958-chr4:76763569..76766222,2	MCF-7	breast:
10	chr4:76598734..76600560-chr4:76764992..76767799,2	K562	blood:
11	chr4:76756249..76758422-chr4:76759669..76762600,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000138757	chromatin interactions

Extended variants
information (count: 457 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:457 , 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	rs568641032	chr4:76761216-76761217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs535623932	chr4:76761228-76761229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532696651	chr4:76761290-76761291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs547571593	chr4:76761305-76761306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565866926	chr4:76761334-76761335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs367688806	chr4:76761337-76761338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs539545522	chr4:76761428-76761429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547564426	chr4:76761438-76761439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371431216	chr4:76761466-76761467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs139034976	chr4:76761482-76761483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184936695	chr4:76761483-76761484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs372084035	chr4:76761526-76761527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs6856987	chr4:76761564-76761565	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs188533248	chr4:76761608-76761609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369301765	chr4:76761609-76761610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs180941731	chr4:76761614-76761615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs559565416	chr4:76761628-76761629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs577859537	chr4:76761629-76761630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544767859	chr4:76761640-76761641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs142236587	chr4:76761641-76761642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs530377014	chr4:76761645-76761646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs146380094	chr4:76761654-76761655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs562008540	chr4:76761656-76761657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs139258407	chr4:76761660-76761661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547633262	chr4:76761667-76761668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs35719535	chr4:76761691-76761692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565927985	chr4:76761699-76761700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs559310752	chr4:76761709-76761710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551537654	chr4:76761722-76761723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376521791	chr4:76761729-76761730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs149553307	chr4:76761758-76761759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs144296665	chr4:76761764-76761765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185016291	chr4:76761795-76761796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567593487	chr4:76761839-76761840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs534911351	chr4:76761858-76761859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs189571940	chr4:76761865-76761866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577871868	chr4:76761937-76761938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181947067	chr4:76761962-76761963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187177931	chr4:76761975-76761976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575210012	chr4:76761997-76761998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs74801415	chr4:76762017-76762018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560549733	chr4:76762108-76762109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191608273	chr4:76762151-76762152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541289919	chr4:76762193-76762194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559524847	chr4:76762210-76762211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533336797	chr4:76762246-76762247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs7682494	chr4:76762285-76762286	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs570087412	chr4:76762295-76762296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531011258	chr4:76762327-76762328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369203565	chr4:76762332-76762333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21364760	CNVD
Autism	18414403	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:297 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76736600-76763200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:76743800-76764800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:76753400-76762600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr4:76754200-76762600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr4:76756400-76764800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:76758600-76762400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr4:76758800-76762800	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr4:76760800-76762600	Weak transcription	K562	blood
9	chr4:76761000-76762400	Weak transcription	A549	lung
10	chr4:76761000-76762400	Weak transcription	HepG2	liver
11	chr4:76761000-76762600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr4:76761000-76762800	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr4:76761000-76763200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr4:76761200-76762600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr4:76762400-76762600	Enhancers	A549	lung
16	chr4:76762400-76762800	Enhancers	Fetal Heart	heart
17	chr4:76762400-76762800	Enhancers	HepG2	liver
18	chr4:76762400-76763200	Enhancers	Left Ventricle	heart
19	chr4:76762400-76763400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr4:76762600-76762800	Enhancers	K562	blood
21	chr4:76762600-76763200	Enhancers	H9 Cell Line	embryonic stem cell
22	chr4:76762600-76763200	Active TSS	Primary neutrophils fromperipheralblood	blood
23	chr4:76762600-76763200	Enhancers	Right Atrium	heart
24	chr4:76762600-76763400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr4:76762600-76763400	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr4:76762600-76763400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr4:76762600-76763400	Enhancers	Brain Substantia Nigra	brain
28	chr4:76762600-76763400	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr4:76762600-76763600	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr4:76762600-76763600	Enhancers	H1 Cell Line	embryonic stem cell
31	chr4:76762600-76763600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr4:76762600-76763600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr4:76762600-76763600	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr4:76762600-76763600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr4:76762600-76763600	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr4:76762600-76763600	Flanking Active TSS	A549	lung
37	chr4:76762600-76763800	Enhancers	HSMMtube	muscle
38	chr4:76762800-76763000	Enhancers	NHLF	lung
39	chr4:76762800-76763000	Enhancers	Osteobl	bone
40	chr4:76762800-76763200	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr4:76762800-76763200	Enhancers	Brain Anterior Caudate	brain
42	chr4:76762800-76763200	Enhancers	NH-A	brain
43	chr4:76762800-76763400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
44	chr4:76762800-76763400	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr4:76762800-76763400	Enhancers	Brain Cingulate Gyrus	brain
46	chr4:76762800-76763400	Enhancers	Brain Hippocampus Middle	brain
47	chr4:76762800-76763400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
48	chr4:76762800-76763400	Flanking Active TSS	Fetal Heart	heart
49	chr4:76762800-76763400	Enhancers	Placenta	Placenta
50	chr4:76762800-76763400	Flanking Active TSS	HepG2	liver

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