Variant report

Variant	nsv822617
Chromosome Location	chr4:74452623-74453333
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	chr4:74442868..74445735-chr4:74451381..74454006,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561140492	chr4:74452628-74452629	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs201898258	chr4:74452629-74452630	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs542346441	chr4:74452635-74452636	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs397971478	chr4:74452641-74452642	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs371144060	chr4:74452721-74452722	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs565538544	chr4:74452722-74452723	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs560594258	chr4:74452765-74452766	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs527921683	chr4:74452806-74452807	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs528063782	chr4:74452814-74452815	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs552736419	chr4:74452833-74452834	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs563414290	chr4:74452850-74452851	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs1247659	chr4:74452851-74452852	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs531870812	chr4:74452854-74452855	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs550030921	chr4:74452859-74452860	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs567737229	chr4:74452861-74452862	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs566273314	chr4:74452863-74452864	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs193173244	chr4:74452934-74452935	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs182855819	chr4:74452951-74452952	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs7665563	chr4:74452994-74452995	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs7667019	chr4:74453035-74453036	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs188277878	chr4:74453050-74453051	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs7695792	chr4:74453064-74453065	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs7695946	chr4:74453111-74453112	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs191127536	chr4:74453135-74453136	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs7667185	chr4:74453145-74453146	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs183767299	chr4:74453149-74453150	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs542198993	chr4:74453182-74453183	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs560430004	chr4:74453195-74453196	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs527765520	chr4:74453206-74453207	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs7665972	chr4:74453210-74453211	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs112595081	chr4:74453272-74453273	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs559824024	chr4:74453279-74453280	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs528459533	chr4:74453283-74453284	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs189234561	chr4:74453289-74453290	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs1569207	chr4:74453312-74453313	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs552935183	chr4:74453313-74453314	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs550061915	chr4:74453325-74453326	Weak transcription Strong transcription Enhancers	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
Non-small cell lung cancer	21829676	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
Colorectal cancer	16272173	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Abnormal phenotypes	18644119	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74438000-74464800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr4:74440200-74455200	Weak transcription	Fetal Intestine Small	intestine
3	chr4:74440200-74457400	Weak transcription	Pancreas	Pancrea
4	chr4:74440200-74472600	Weak transcription	Gastric	stomach
5	chr4:74441200-74464800	Weak transcription	Placenta	Placenta
6	chr4:74443600-74455400	Weak transcription	Stomach Mucosa	stomach
7	chr4:74446200-74456000	Weak transcription	Duodenum Mucosa	Duodenum
8	chr4:74447000-74456000	Strong transcription	Fetal Thymus	thymus
9	chr4:74447600-74455000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr4:74447600-74463400	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr4:74448800-74456000	Weak transcription	Fetal Intestine Large	intestine
12	chr4:74449000-74470200	Weak transcription	Primary T cells from cord blood	blood
13	chr4:74449800-74454800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr4:74449800-74455200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr4:74449800-74461600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr4:74450200-74453400	Enhancers	Muscle Satellite Cultured Cells	--
17	chr4:74450200-74455200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr4:74450600-74455000	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr4:74450800-74454800	Weak transcription	HMEC	breast
20	chr4:74451000-74452800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr4:74451000-74455400	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr4:74451200-74454800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr4:74451200-74454800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr4:74451200-74454800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr4:74451200-74456200	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr4:74451200-74457200	Weak transcription	Thymus	Thymus
27	chr4:74452400-74454400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr4:74452400-74454600	Weak transcription	NHEK	skin
29	chr4:74452800-74454000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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