Variant report

Variant	nsv980406
Chromosome Location	chr4:82310479-82337709
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:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:82327052..82327580-chr4:83189067..83189954,2	K562	blood:
2	chr4:82326946..82327647-chr4:83122824..83123511,5	K562	blood:
3	chr4:82326953..82327888-chr4:82765613..82766496,6	MCF-7	breast:
4	chr4:82327129..82328804-chr4:82341208..82343737,2	K562	blood:
5	chr4:82326836..82327578-chr4:82476960..82477646,2	K562	blood:
6	chr4:82327015..82327603-chr4:83122849..83123538,2	MCF-7	breast:
7	chr4:82327000..82327810-chr4:82341931..82342605,2	K562	blood:
8	chr4:82317438..82320291-chr4:82320653..82322618,2	K562	blood:
9	chr4:82326927..82327852-chr4:82345884..82346881,4	K562	blood:
10	chr4:82328359..82330272-chr4:82331686..82335008,3	K562	blood:
11	chr4:82327020..82327704-chr4:83189488..83190807,3	MCF-7	breast:
12	chr4:82330902..82334984-chr4:82339313..82344776,5	K562	blood:
13	chr4:82326902..82327525-chr4:82765379..82766275,4	MCF-7	breast:
14	chr4:82328359..82330272-chr4:82331686..82335008,3	K562	blood:
15	chr4:82317438..82320291-chr4:82320653..82322618,2	K562	blood:
16	chr4:82332819..82334854-chr4:82340131..82342446,3	K562	blood:
17	chr4:82326952..82327640-chr4:83139246..83140172,3	MCF-7	breast:
18	chr4:82327008..82327570-chr4:82765988..82766495,2	K562	blood:
19	chr4:82326725..82327501-chr4:82840095..82841287,3	MCF-7	breast:
20	chr4:82327037..82327640-chr4:83122910..83123879,5	MCF-7	breast:
21	chr4:82326919..82327448-chr4:83206445..83206978,2	MCF-7	breast:
22	chr4:82326802..82327531-chr4:83189460..83190762,4	MCF-7	breast:
23	chr4:82326881..82327563-chr4:82770505..82771402,2	MCF-7	breast:

No data

Extended variants
information (count: 859 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:859 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148505526	chr4:82310534-82310535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs548396103	chr4:82310535-82310536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs186949846	chr4:82310641-82310642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs527607539	chr4:82310648-82310649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs534464024	chr4:82310661-82310662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs74661561	chr4:82310665-82310666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs547033253	chr4:82310730-82310731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs370373024	chr4:82310824-82310825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs570473265	chr4:82310841-82310842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs539481562	chr4:82310845-82310846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs556291765	chr4:82310852-82310853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs569796437	chr4:82310891-82310892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs538040370	chr4:82310916-82310917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs555166615	chr4:82310928-82310929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs574986250	chr4:82310934-82310935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs540929381	chr4:82310996-82310997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs554083768	chr4:82310999-82311000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs576822711	chr4:82311019-82311020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs192739557	chr4:82311020-82311021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs368873360	chr4:82311029-82311030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs562623456	chr4:82311031-82311032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs531846061	chr4:82311050-82311051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs200563187	chr4:82311054-82311055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs114294941	chr4:82311114-82311115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs561925195	chr4:82311171-82311172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs527553664	chr4:82311233-82311234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs372393768	chr4:82311250-82311251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs2903765	chr4:82311291-82311292	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs570808283	chr4:82311314-82311315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs10488932	chr4:82311343-82311344	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs368492428	chr4:82311350-82311351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs182370917	chr4:82311392-82311393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs535538257	chr4:82311427-82311428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs114559235	chr4:82311444-82311445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs77159010	chr4:82311500-82311501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs372163187	chr4:82311542-82311543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs147433958	chr4:82311551-82311552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs374893811	chr4:82311574-82311575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs554020423	chr4:82311586-82311587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs555714610	chr4:82311599-82311600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs559087427	chr4:82313201-82313202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs534669911	chr4:82313217-82313218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs145197067	chr4:82313253-82313254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs564686866	chr4:82313277-82313278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs558070742	chr4:82313293-82313294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs533329153	chr4:82313366-82313367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs550143152	chr4:82313387-82313388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs377002698	chr4:82313446-82313447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs190197529	chr4:82313449-82313450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs17428097	chr4:82313486-82313487	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
primary effusion lymphomas	17116491	CNVD
Gastric cancer	16891809	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Myelodysplastic syndrome	18508791	CNVD
abnormal development	18461090	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:82310200-82311600	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr4:82310400-82311200	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr4:82313200-82313600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr4:82313600-82314400	Enhancers	Thymus	Thymus
5	chr4:82314400-82314800	Enhancers	Primary B cells from peripheral blood	blood
6	chr4:82314400-82314800	Enhancers	GM12878-XiMat	blood
7	chr4:82314600-82314800	Enhancers	Fetal Intestine Large	intestine
8	chr4:82316200-82316800	Enhancers	Left Ventricle	heart
9	chr4:82316200-82317200	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr4:82316600-82321000	Enhancers	Fetal Intestine Large	intestine
11	chr4:82317000-82320800	Enhancers	Fetal Intestine Small	intestine
12	chr4:82319600-82320400	Enhancers	Fetal Muscle Trunk	muscle
13	chr4:82319600-82321800	Enhancers	Fetal Muscle Leg	muscle
14	chr4:82320400-82321000	Enhancers	Right Atrium	heart
15	chr4:82320800-82325600	Weak transcription	Fetal Intestine Small	intestine
16	chr4:82321000-82325600	Weak transcription	Fetal Intestine Large	intestine
17	chr4:82321000-82335800	Weak transcription	Right Atrium	heart
18	chr4:82321200-82321400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr4:82325600-82326800	Enhancers	Fetal Intestine Large	intestine
20	chr4:82325600-82327600	Enhancers	Fetal Intestine Small	intestine
21	chr4:82326000-82326200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr4:82326400-82326600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr4:82326800-82327000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
24	chr4:82326800-82327000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr4:82326800-82327000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr4:82326800-82327000	Flanking Active TSS	Fetal Intestine Large	intestine
27	chr4:82326800-82327000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
28	chr4:82326800-82327000	Enhancers	Rectal Smooth Muscle	rectum
29	chr4:82326800-82327000	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr4:82326800-82327000	Flanking Active TSS	NHDF-Ad	bronchial
31	chr4:82326800-82327200	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr4:82326800-82327200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr4:82326800-82327200	Enhancers	Dnd41	blood
34	chr4:82326800-82327400	Enhancers	Primary T cells from cord blood	blood
35	chr4:82326800-82327400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr4:82326800-82327400	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr4:82326800-82327400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr4:82326800-82327400	Enhancers	Fetal Kidney	kidney
39	chr4:82326800-82327400	Enhancers	Monocytes-CD14+_RO01746	blood
40	chr4:82326800-82327600	Enhancers	Adipose Nuclei	Adipose
41	chr4:82326800-82327600	Enhancers	Liver	Liver
42	chr4:82326800-82327600	Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr4:82326800-82327600	Enhancers	NHEK	skin
44	chr4:82326800-82327800	Enhancers	Brain Hippocampus Middle	brain
45	chr4:82327000-82327200	Active TSS	NHDF-Ad	bronchial
46	chr4:82327000-82327400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
47	chr4:82327000-82327400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
48	chr4:82327000-82327400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr4:82327000-82327400	Active TSS	Brain Anterior Caudate	brain
50	chr4:82327000-82327400	Active TSS	Fetal Intestine Large	intestine

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