Variant report

Variant	nsv819290
Chromosome Location	chr4:79266834-79275538
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:79267580..79269981-chr4:79274532..79277748,3	K562	blood:
2	chr4:79267050..79269903-chr4:79274110..79276032,2	K562	blood:
3	chr4:79267580..79269981-chr4:79274532..79277748,3	K562	blood:
4	chr4:79267050..79269903-chr4:79274110..79276032,2	K562	blood:

Extended variants
information (count: 129 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:129 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76120917	chr4:79266914-79266915	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs113666529	chr4:79266921-79266922	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs415472	chr4:79266923-79266924	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs542705274	chr4:79266984-79266985	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs559737055	chr4:79266992-79266993	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528645934	chr4:79267005-79267006	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs5859617	chr4:79267019-79267020	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs68173335	chr4:79267033-79267034	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547974308	chr4:79267034-79267035	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs11098146	chr4:79267042-79267043	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs380076	chr4:79267080-79267081	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs531092557	chr4:79267177-79267178	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs372736	chr4:79267234-79267235	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs576232853	chr4:79267306-79267307	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs192519344	chr4:79267315-79267316	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs77820047	chr4:79267367-79267368	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs376976139	chr4:79267388-79267389	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs183492487	chr4:79267391-79267392	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535844772	chr4:79267514-79267515	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs397439	chr4:79267537-79267538	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs558691356	chr4:79267597-79267598	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs365657	chr4:79267600-79267601	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs558102677	chr4:79267629-79267630	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs578025968	chr4:79267630-79267631	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs72657060	chr4:79267651-79267652	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs374051592	chr4:79267690-79267691	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554449337	chr4:79267713-79267714	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs557044758	chr4:79267725-79267726	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573572640	chr4:79267734-79267735	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188308051	chr4:79267790-79267791	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs547364226	chr4:79267862-79267863	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs559355132	chr4:79267877-79267878	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs553630086	chr4:79267887-79267888	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs550278865	chr4:79267904-79267905	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs528702386	chr4:79267906-79267907	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs28623348	chr4:79267918-79267919	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs565113926	chr4:79267957-79267958	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs531156275	chr4:79268014-79268015	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs402843	chr4:79268041-79268042	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs561132677	chr4:79268068-79268069	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374446455	chr4:79268102-79268103	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs530054449	chr4:79268106-79268107	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs546799910	chr4:79268267-79268268	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181317454	chr4:79268299-79268300	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs454649	chr4:79268308-79268309	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs184878968	chr4:79268381-79268382	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs412797	chr4:79268412-79268413	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs200084693	chr4:79268435-79268436	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190178054	chr4:79268464-79268465	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181519969	chr4:79268487-79268488	Weak transcription ZNF genes & repeats Strong 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
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:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79230200-79268600	Weak transcription	Pancreas	Pancrea
2	chr4:79258000-79275200	Weak transcription	Fetal Brain Female	brain
3	chr4:79258400-79268600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr4:79258400-79268600	Weak transcription	Fetal Brain Male	brain
5	chr4:79258400-79269000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
6	chr4:79258800-79276800	Weak transcription	Fetal Kidney	kidney
7	chr4:79258800-79291000	Weak transcription	Fetal Lung	lung
8	chr4:79259000-79268600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr4:79259200-79275400	Weak transcription	Brain Germinal Matrix	brain
10	chr4:79260800-79281000	Weak transcription	Fetal Intestine Small	intestine
11	chr4:79261000-79275200	Weak transcription	Fetal Intestine Large	intestine
12	chr4:79261400-79287800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr4:79262800-79277400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr4:79263000-79282200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr4:79263400-79283400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr4:79263600-79267200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr4:79263600-79281000	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr4:79265200-79275600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr4:79265600-79277000	Weak transcription	HSMMtube	muscle
20	chr4:79266000-79280600	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr4:79266200-79275600	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr4:79266400-79284400	Weak transcription	HepG2	liver
23	chr4:79266600-79268400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr4:79266600-79268800	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr4:79266800-79269200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr4:79266800-79276400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr4:79267200-79267800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr4:79267600-79268000	Enhancers	Fetal Thymus	thymus
29	chr4:79267800-79275200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr4:79268200-79268600	Weak transcription	Fetal Stomach	stomach
31	chr4:79268400-79268600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr4:79268600-79268800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr4:79268600-79268800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr4:79268600-79268800	ZNF genes & repeats	Pancreas	Pancrea
35	chr4:79268600-79269200	Enhancers	Fetal Brain Male	brain
36	chr4:79268600-79283200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr4:79268800-79280800	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr4:79268800-79283400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr4:79268800-79287400	Weak transcription	Pancreas	Pancrea
40	chr4:79269000-79277200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr4:79269200-79281000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr4:79274600-79275200	Weak transcription	Aorta	Aorta
43	chr4:79275200-79275400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr4:79275200-79275400	ZNF genes & repeats	Aorta	Aorta
45	chr4:79275200-79276800	Enhancers	Fetal Brain Female	brain
46	chr4:79275400-79278400	Enhancers	Brain Germinal Matrix	brain
47	chr4:79275400-79281600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr4:79275400-79310600	Weak transcription	Aorta	Aorta

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