Variant report

Variant	esv3465521
Chromosome Location	chr4:79268723-79275615
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	chr4:79267050..79269903-chr4:79274110..79276032,2	K562	blood:
4	chr4:79267580..79269981-chr4:79274532..79277748,3	K562	blood:

Extended variants
information (count: 71 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147215742	chr4:79268729-79268730	Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs560267136	chr4:79268763-79268764	Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs113149393	chr4:79268786-79268787	Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs368313	chr4:79268802-79268803	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs541218294	chr4:79268827-79268828	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs571477153	chr4:79268834-79268835	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs12643134	chr4:79268867-79268868	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs10550278	chr4:79268904-79268905	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs373600028	chr4:79268905-79268906	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs373788684	chr4:79268917-79268918	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs199680246	chr4:79268919-79268920	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs550623110	chr4:79268929-79268930	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs73827987	chr4:79268941-79268942	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs554835851	chr4:79268942-79268943	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs567518274	chr4:79268943-79268944	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs186175975	chr4:79269027-79269028	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs552979384	chr4:79269051-79269052	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs142895137	chr4:79269067-79269068	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs147393513	chr4:79269090-79269091	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs139159755	chr4:79269095-79269096	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs74926675	chr4:79269134-79269135	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs76908329	chr4:79269135-79269136	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs78663272	chr4:79269136-79269137	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs558180890	chr4:79269155-79269156	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs575451599	chr4:79269170-79269171	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs28544081	chr4:79269200-79269201	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs374405046	chr4:79269272-79269273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs9714928	chr4:79269990-79269991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs9715675	chr4:79270042-79270043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs11098147	chr4:79270368-79270369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200583545	chr4:79270622-79270623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12152662	chr4:79270659-79270660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12152693	chr4:79270729-79270730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs12152696	chr4:79270857-79270858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201769490	chr4:79271109-79271110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544362830	chr4:79272928-79272929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs561306012	chr4:79273006-79273007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575106107	chr4:79273226-79273227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs199848472	chr4:79273431-79273432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs62309900	chr4:79274804-79274805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376216538	chr4:79274820-79274821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs62309901	chr4:79274832-79274833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371108242	chr4:79274874-79274875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375479136	chr4:79274910-79274911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs367780994	chr4:79274976-79274977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371721787	chr4:79274986-79274987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs62309902	chr4:79275032-79275033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs148609927	chr4:79275152-79275153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs7438510	chr4:79275161-79275162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540570025	chr4:79275162-79275163	Weak 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:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79258000-79275200	Weak transcription	Fetal Brain Female	brain
2	chr4:79258400-79269000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
3	chr4:79258800-79276800	Weak transcription	Fetal Kidney	kidney
4	chr4:79258800-79291000	Weak transcription	Fetal Lung	lung
5	chr4:79259200-79275400	Weak transcription	Brain Germinal Matrix	brain
6	chr4:79260800-79281000	Weak transcription	Fetal Intestine Small	intestine
7	chr4:79261000-79275200	Weak transcription	Fetal Intestine Large	intestine
8	chr4:79261400-79287800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr4:79262800-79277400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr4:79263000-79282200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr4:79263400-79283400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr4:79263600-79281000	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr4:79265200-79275600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr4:79265600-79277000	Weak transcription	HSMMtube	muscle
15	chr4:79266000-79280600	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr4:79266200-79275600	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr4:79266400-79284400	Weak transcription	HepG2	liver
18	chr4:79266600-79268800	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr4:79266800-79269200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr4:79266800-79276400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr4:79267800-79275200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr4:79268600-79268800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr4:79268600-79268800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr4:79268600-79268800	ZNF genes & repeats	Pancreas	Pancrea
25	chr4:79268600-79269200	Enhancers	Fetal Brain Male	brain
26	chr4:79268600-79283200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr4:79268800-79280800	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr4:79268800-79283400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr4:79268800-79287400	Weak transcription	Pancreas	Pancrea
30	chr4:79269000-79277200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr4:79269200-79281000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr4:79274600-79275200	Weak transcription	Aorta	Aorta
33	chr4:79275200-79275400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr4:79275200-79275400	ZNF genes & repeats	Aorta	Aorta
35	chr4:79275200-79276800	Enhancers	Fetal Brain Female	brain
36	chr4:79275400-79278400	Enhancers	Brain Germinal Matrix	brain
37	chr4:79275400-79281600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr4:79275400-79310600	Weak transcription	Aorta	Aorta
39	chr4:79275600-79276000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr4:79275600-79276200	Strong transcription	HUES48 Cell Line	embryonic stem cell

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