Variant report

Variant	esv3465517
Chromosome Location	chr4:78269181-78269834
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:78266632..78268344-chr4:78268869..78271315,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544866391	chr4:78269189-78269190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs370890906	chr4:78269213-78269214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs574964401	chr4:78269225-78269226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs144049320	chr4:78269242-78269243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs11930470	chr4:78269259-78269260	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs560741020	chr4:78269276-78269277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs146887896	chr4:78269302-78269303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs545139085	chr4:78269370-78269371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs17002568	chr4:78269396-78269397	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs530556562	chr4:78269418-78269419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs531835467	chr4:78269434-78269435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs564712481	chr4:78269450-78269451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs72648554	chr4:78269513-78269514	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs550375294	chr4:78269545-78269546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs75243434	chr4:78269580-78269581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs111372961	chr4:78269648-78269649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs556939250	chr4:78269649-78269650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs530007208	chr4:78269662-78269663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs546440341	chr4:78269668-78269669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs566347324	chr4:78269725-78269726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs538721210	chr4:78269730-78269731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs140730461	chr4:78269753-78269754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs145762342	chr4:78269761-78269762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs537889970	chr4:78269799-78269800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs555238263	chr4:78269806-78269807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78265400-78270200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:78266200-78270000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr4:78266400-78269400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr4:78266600-78269800	Weak transcription	HMEC	breast
5	chr4:78267400-78269800	Enhancers	Fetal Intestine Small	intestine
6	chr4:78267400-78270000	Enhancers	Stomach Mucosa	stomach
7	chr4:78267400-78270200	Enhancers	Fetal Intestine Large	intestine
8	chr4:78268200-78269200	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr4:78268400-78269400	Enhancers	Duodenum Mucosa	Duodenum
10	chr4:78268800-78269400	Enhancers	HepG2	liver
11	chr4:78269200-78270200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr4:78269400-78271800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr4:78269600-78271800	Enhancers	NHDF-Ad	bronchial
14	chr4:78269600-78271800	Enhancers	NHEK	skin
15	chr4:78269800-78271400	Weak transcription	Fetal Intestine Small	intestine
16	chr4:78269800-78272000	Enhancers	HMEC	breast

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