Variant report

Variant	esv2762451
Chromosome Location	chr4:94926158-94944290
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	chr4:94931645..94934547-chr4:94969547..94971822,2	K562	blood:

Extended variants
information (count: 269 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:269 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182079468	chr4:94926163-94926164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs186596927	chr4:94926195-94926196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs548264489	chr4:94926236-94926237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs562242317	chr4:94926256-94926257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs280105	chr4:94926310-94926311	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs550812338	chr4:94926329-94926330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs570715565	chr4:94926402-94926403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs72883270	chr4:94926423-94926424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547288234	chr4:94926479-94926480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs567347850	chr4:94926501-94926502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562708159	chr4:94926572-94926573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577785390	chr4:94926585-94926586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs203754	chr4:94926597-94926598	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs142006854	chr4:94926605-94926606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs191056434	chr4:94926642-94926643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537943295	chr4:94926666-94926667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs182893053	chr4:94926684-94926685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs577927150	chr4:94926695-94926696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs4608767	chr4:94926696-94926697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs1583665	chr4:94926708-94926709	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs560422576	chr4:94926865-94926866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs150693461	chr4:94926913-94926914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371952592	chr4:94926961-94926962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542247017	chr4:94926965-94926966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs527746472	chr4:94927024-94927025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs280104	chr4:94927060-94927061	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs560945628	chr4:94927082-94927083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs62319591	chr4:94927106-94927107	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs544311673	chr4:94927123-94927124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs564210197	chr4:94927154-94927155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs545410203	chr4:94927156-94927157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs116758660	chr4:94927173-94927174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs567188692	chr4:94927217-94927218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs11938962	chr4:94927237-94927238	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs571818028	chr4:94927243-94927244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs28563167	chr4:94927248-94927249	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs547635396	chr4:94927260-94927261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs544825940	chr4:94927282-94927283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs566601072	chr4:94927305-94927306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs568880194	chr4:94927309-94927310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs11944674	chr4:94927323-94927324	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs187577913	chr4:94927325-94927326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs112164287	chr4:94927396-94927397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs190138930	chr4:94927420-94927421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113267785	chr4:94927472-94927473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573927566	chr4:94927492-94927493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183383541	chr4:94927561-94927562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187549203	chr4:94927575-94927576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs4692995	chr4:94927585-94927586	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs556443781	chr4:94927611-94927612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
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
Pancreatic cancer	17952125	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Sinonasal adenocarcinoma	21360264	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:94907400-94932400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr4:94931200-94931600	Enhancers	K562	blood
3	chr4:94931600-94932000	Weak transcription	K562	blood
4	chr4:94932000-94932800	Enhancers	K562	blood
5	chr4:94932200-94932600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:94932400-94932600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr4:94932400-94932800	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr4:94935200-94936200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr4:94935600-94936200	Enhancers	Rectal Mucosa Donor 31	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links