Variant report

Variant	nsv508290
Chromosome Location	chr4:79259152-79277975
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:79277519..79279860-chr4:79280043..79282916,2	K562	blood:
2	chr4:79262786..79264537-chr4:79284546..79286263,2	K562	blood:
3	chr4:79267580..79269981-chr4:79274532..79277748,3	K562	blood:
4	chr4:79267050..79269903-chr4:79274110..79276032,2	K562	blood:
5	chr4:79267580..79269981-chr4:79274532..79277748,3	K562	blood:
6	chr4:79267050..79269903-chr4:79274110..79276032,2	K562	blood:

Extended variants
information (count: 581 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:581 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3086788	chr4:79259255-79259256	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs182681382	chr4:79259294-79259295	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs75521140	chr4:79259305-79259306	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs139500309	chr4:79259327-79259328	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs187357246	chr4:79259364-79259365	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs114737091	chr4:79259418-79259419	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs374262040	chr4:79259425-79259426	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs534159633	chr4:79259460-79259461	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs149573536	chr4:79259557-79259558	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs381765	chr4:79259599-79259600	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs144606473	chr4:79259600-79259601	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs556746192	chr4:79259619-79259620	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs148469658	chr4:79259643-79259644	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs542587779	chr4:79259691-79259692	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs190620197	chr4:79259706-79259707	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs371923	chr4:79259734-79259735	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs541405986	chr4:79259768-79259769	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs12639900	chr4:79259776-79259777	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs564435465	chr4:79259779-79259780	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs183190306	chr4:79259796-79259797	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs448495	chr4:79259812-79259813	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs188927188	chr4:79259824-79259825	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs193123595	chr4:79259853-79259854	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs548087498	chr4:79259873-79259874	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs567968028	chr4:79259908-79259909	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs575295797	chr4:79259915-79259916	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs527306322	chr4:79259920-79259921	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs547404178	chr4:79259926-79259927	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs113664586	chr4:79259939-79259940	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs539568464	chr4:79259953-79259954	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs555978194	chr4:79259963-79259964	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs569894	chr4:79260001-79260002	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs548229569	chr4:79260003-79260004	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs187619120	chr4:79260082-79260083	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs556120704	chr4:79260086-79260087	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs150974838	chr4:79260092-79260093	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs541348630	chr4:79260099-79260100	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs567728154	chr4:79260107-79260108	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs370602843	chr4:79260109-79260110	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs140527646	chr4:79260137-79260138	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs375158123	chr4:79260148-79260149	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs144283384	chr4:79260209-79260210	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs12640026	chr4:79260213-79260214	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs551642325	chr4:79260235-79260236	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs563402033	chr4:79260252-79260253	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs201728261	chr4:79260258-79260259	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs571522681	chr4:79260268-79260269	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs114326069	chr4:79260324-79260325	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs147806395	chr4:79260335-79260336	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs62309892	chr4:79260336-79260337	Weak transcription Strong transcription Bivalent Enhancer	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
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
renal disease	20603712	CNVD
Tracheal agenesis	20877625	CNVD
Breast cancer	22522925	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:162 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79221200-79263000	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr4:79230200-79268600	Weak transcription	Pancreas	Pancrea
3	chr4:79231600-79260400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:79238000-79263200	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr4:79240400-79263000	Weak transcription	Psoas Muscle	Psoas
6	chr4:79253800-79264800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr4:79254600-79261600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr4:79256400-79259600	Enhancers	Fetal Heart	heart
9	chr4:79256400-79265200	Strong transcription	HepG2	liver
10	chr4:79256600-79261800	Weak transcription	Aorta	Aorta
11	chr4:79257400-79259200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr4:79257600-79259200	Enhancers	Brain Germinal Matrix	brain
13	chr4:79257800-79259200	Enhancers	Placenta Amnion	Placenta Amnion
14	chr4:79258000-79261800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr4:79258000-79275200	Weak transcription	Fetal Brain Female	brain
16	chr4:79258200-79260800	Weak transcription	Right Atrium	heart
17	chr4:79258200-79261800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr4:79258200-79262000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr4:79258200-79262600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr4:79258200-79263200	Strong transcription	H1 Cell Line	embryonic stem cell
21	chr4:79258200-79263400	Weak transcription	Fetal Stomach	stomach
22	chr4:79258200-79264400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr4:79258400-79259800	Weak transcription	Fetal Intestine Large	intestine
24	chr4:79258400-79260800	Strong transcription	Fetal Intestine Small	intestine
25	chr4:79258400-79263000	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr4:79258400-79265800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr4:79258400-79268600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr4:79258400-79268600	Weak transcription	Fetal Brain Male	brain
29	chr4:79258400-79269000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr4:79258600-79260600	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr4:79258800-79276800	Weak transcription	Fetal Kidney	kidney
32	chr4:79258800-79291000	Weak transcription	Fetal Lung	lung
33	chr4:79259000-79259200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr4:79259000-79259400	Weak transcription	HSMMtube	muscle
35	chr4:79259000-79259600	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr4:79259000-79259800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr4:79259000-79259800	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr4:79259000-79260000	Weak transcription	Placenta	Placenta
39	chr4:79259000-79261000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr4:79259000-79262200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr4:79259000-79262800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr4:79259000-79263000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr4:79259000-79263800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
44	chr4:79259000-79268600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr4:79259200-79259800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr4:79259200-79262400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr4:79259200-79275400	Weak transcription	Brain Germinal Matrix	brain
48	chr4:79259400-79259800	Enhancers	HSMMtube	muscle
49	chr4:79259600-79262600	Weak transcription	Fetal Heart	heart
50	chr4:79259600-79262800	Strong transcription	H9 Cell Line	embryonic stem cell

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