Variant report

Variant	nsv1001955
Chromosome Location	chr4:96216118-96445841
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:57)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:57 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr4:96238634..96240749-chr4:96243544..96245524,2	K562	blood:
2	chr4:96387531..96390133-chr4:96391936..96394020,2	K562	blood:
3	chr4:96370256..96372247-chr4:96372627..96375587,3	MCF-7	breast:
4	chr4:96317838..96319996-chr4:96323974..96325535,2	K562	blood:
5	chr4:96238634..96240749-chr4:96243544..96245524,2	K562	blood:
6	chr4:96444484..96447384-chr4:96449830..96452158,3	K562	blood:
7	chr4:96221540..96223256-chr4:96225033..96227076,2	MCF-7	breast:
8	chr4:96334794..96337499-chr4:96339097..96341918,3	K562	blood:
9	chr4:96315735..96317852-chr4:96318532..96320222,2	MCF-7	breast:
10	chr4:96277583..96279731-chr4:96280284..96282864,2	K562	blood:
11	chr4:96333535..96335427-chr4:96341183..96343948,2	MCF-7	breast:
12	chr4:96356212..96358546-chr4:96371177..96373429,2	MCF-7	breast:
13	chr4:96330904..96333366-chr4:96341864..96343660,2	K562	blood:
14	chr4:96371347..96373454-chr4:96379943..96382667,2	MCF-7	breast:
15	chr4:96329959..96332561-chr4:96333804..96336637,2	K562	blood:
16	chr4:96294611..96296787-chr4:96298081..96299849,2	K562	blood:
17	chr4:96387531..96390133-chr4:96391936..96394020,2	K562	blood:
18	chr4:96383413..96385489-chr4:96406573..96408820,2	MCF-7	breast:
19	chr4:96406545..96409466-chr4:96422073..96424500,2	K562	blood:
20	chr4:96330904..96333366-chr4:96341864..96343660,2	K562	blood:
21	chr4:96209940..96213311-chr4:96213597..96217290,3	K562	blood:
22	chr4:96294611..96296787-chr4:96298081..96299849,2	K562	blood:
23	chr4:96356418..96358420-chr4:96366268..96368706,2	K562	blood:
24	chr4:96431048..96431589-chr4:96465552..96466292,2	MCF-7	breast:
25	chr4:96406545..96409466-chr4:96422073..96424500,2	K562	blood:
26	chr4:96347816..96350155-chr4:96353561..96357781,3	K562	blood:
27	chr4:96077419..96078385-chr4:96283655..96284313,2	K562	blood:
28	chr4:96360959..96362706-chr4:96363216..96366003,2	K562	blood:
29	chr4:96316312..96318701-chr4:96318917..96320880,2	MCF-7	breast:
30	chr4:96338808..96340584-chr4:96343817..96345531,2	K562	blood:
31	chr4:96282890..96284742-chr4:96286355..96289329,2	K562	blood:
32	chr4:96370256..96372247-chr4:96372627..96375587,3	MCF-7	breast:
33	chr4:96334794..96337499-chr4:96339097..96341918,3	K562	blood:
34	chr4:96333535..96335427-chr4:96341183..96343948,2	MCF-7	breast:
35	chr4:96277583..96279731-chr4:96280284..96282864,2	K562	blood:
36	chr4:96301836..96304016-chr4:96307553..96310153,2	K562	blood:
37	chr4:96301836..96304016-chr4:96307553..96310153,2	K562	blood:
38	chr4:96356212..96358546-chr4:96371177..96373429,2	MCF-7	breast:
39	chr4:96259189..96261851-chr4:96279495..96281301,2	K562	blood:
40	chr4:96371347..96373454-chr4:96379943..96382667,2	MCF-7	breast:
41	chr4:96237471..96240020-chr4:99477884..99480366,2	K562	blood:
42	chr3:62734586..62735380-chr4:96331681..96332558,2	MCF-7	breast:
43	chr4:96347816..96350155-chr4:96353561..96357781,3	K562	blood:
44	chr4:96383275..96386043-chr4:96386949..96389147,2	K562	blood:
45	chr4:96282890..96284742-chr4:96286355..96289329,2	K562	blood:
46	chr4:96383413..96385489-chr4:96406573..96408820,2	MCF-7	breast:
47	chr4:96317838..96319996-chr4:96323974..96325535,2	K562	blood:
48	chr4:96315735..96317852-chr4:96318532..96320222,2	MCF-7	breast:
49	chr4:96259189..96261851-chr4:96279495..96281301,2	K562	blood:
50	chr4:96360959..96362706-chr4:96363216..96366003,2	K562	blood:

No data

Extended variants
information (count: 8845 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:8845 , 50 per page) page: 1 2 3 4 5 6 7 ... 177

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566639993	chr4:96216207-96216208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs377759576	chr4:96216211-96216212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs548768384	chr4:96216213-96216214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs568757660	chr4:96216218-96216219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs538029871	chr4:96216228-96216229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs557797192	chr4:96216255-96216256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs371209575	chr4:96216276-96216277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs530431318	chr4:96216279-96216280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs571490680	chr4:96216306-96216307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs17432897	chr4:96216322-96216323	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs368325018	chr4:96216370-96216371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs370689266	chr4:96216373-96216374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs573786045	chr4:96216516-96216517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs542792481	chr4:96216568-96216569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs556286035	chr4:96216655-96216656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs374806227	chr4:96216674-96216675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs74319972	chr4:96216751-96216752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs184147492	chr4:96216752-96216753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs570750710	chr4:96216753-96216754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs544769186	chr4:96216827-96216828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs564644317	chr4:96216874-96216875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs79160631	chr4:96216886-96216887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs540277506	chr4:96216890-96216891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs79123096	chr4:96216891-96216892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs113400401	chr4:96216926-96216927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs549101563	chr4:96216958-96216959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs553953384	chr4:96216973-96216974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs149111083	chr4:96216990-96216991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs111817791	chr4:96217021-96217022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs571462666	chr4:96217042-96217043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs534049543	chr4:96217046-96217047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs547713078	chr4:96217130-96217131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs558369615	chr4:96217188-96217189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs143207030	chr4:96217208-96217209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs138941550	chr4:96217209-96217210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs552674914	chr4:96217327-96217328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs188476553	chr4:96217528-96217529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs576174960	chr4:96217583-96217584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs538068642	chr4:96217618-96217619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs532308063	chr4:96217653-96217654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs558290340	chr4:96217660-96217661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs72676405	chr4:96217675-96217676	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs565600621	chr4:96217679-96217680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs543914606	chr4:96217708-96217709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs540967854	chr4:96217765-96217766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs536146406	chr4:96217833-96217834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs142673108	chr4:96217840-96217841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs573726680	chr4:96217853-96217854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs6848679	chr4:96217890-96217891	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs562658066	chr4:96217941-96217942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
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
Lung cancer	18438408	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
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Hirschsprung''s Disease	21712996	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
Cancer	19907438	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:1503 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:96186000-96220400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr4:96190600-96220800	Weak transcription	Fetal Kidney	kidney
3	chr4:96198800-96219600	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr4:96201000-96226000	Weak transcription	Ovary	ovary
5	chr4:96205200-96219400	Weak transcription	Aorta	Aorta
6	chr4:96209800-96216600	Enhancers	Primary T cells from cord blood	blood
7	chr4:96210000-96218000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr4:96210200-96218800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr4:96210200-96219800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr4:96210600-96218000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr4:96211000-96218200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr4:96211000-96225600	Weak transcription	Osteobl	bone
13	chr4:96211200-96218800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr4:96211200-96225200	Weak transcription	HSMM	muscle
15	chr4:96212200-96222800	Weak transcription	A549	lung
16	chr4:96212800-96219800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr4:96214000-96216200	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr4:96214000-96217200	Enhancers	Brain Hippocampus Middle	brain
19	chr4:96214200-96216400	Enhancers	Brain Cingulate Gyrus	brain
20	chr4:96214400-96218000	Weak transcription	Fetal Lung	lung
21	chr4:96214600-96216200	Enhancers	Brain Angular Gyrus	brain
22	chr4:96214600-96217000	Enhancers	Brain Substantia Nigra	brain
23	chr4:96215800-96224000	Weak transcription	Brain Anterior Caudate	brain
24	chr4:96216000-96216600	Enhancers	Colon Smooth Muscle	Colon
25	chr4:96216000-96217200	Enhancers	Fetal Stomach	stomach
26	chr4:96216200-96218000	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr4:96216200-96225800	Weak transcription	Brain Angular Gyrus	brain
28	chr4:96216400-96219600	Weak transcription	Brain Cingulate Gyrus	brain
29	chr4:96216800-96217200	Enhancers	Rectal Smooth Muscle	rectum
30	chr4:96216800-96218400	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr4:96217000-96220200	Weak transcription	Brain Substantia Nigra	brain
32	chr4:96217200-96218800	Weak transcription	Fetal Stomach	stomach
33	chr4:96217200-96219600	Weak transcription	Brain Hippocampus Middle	brain
34	chr4:96217200-96220400	Weak transcription	Rectal Smooth Muscle	rectum
35	chr4:96218000-96218200	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr4:96218000-96218400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr4:96218000-96219000	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr4:96218000-96223000	Strong transcription	Fetal Lung	lung
39	chr4:96218200-96218800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr4:96218200-96219800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr4:96218400-96226200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr4:96218800-96220400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr4:96218800-96220600	Strong transcription	Fetal Stomach	stomach
44	chr4:96218800-96221400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr4:96219000-96224400	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr4:96219400-96220400	ZNF genes & repeats	Aorta	Aorta
47	chr4:96219600-96220400	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr4:96219600-96220800	Strong transcription	Brain Cingulate Gyrus	brain
49	chr4:96219600-96221200	Strong transcription	Brain Hippocampus Middle	brain
50	chr4:96219800-96221400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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