Variant report

Variant	nsv967680
Chromosome Location	chr4:119499004-119506088
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	chr4:119503145..119504877-chr4:119508741..119511511,2	K562	blood:
2	chr4:119505891..119507633-chr4:119509359..119512309,2	MCF-7	breast:

Extended variants
information (count: 75 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115203734	chr4:119504037-119504038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs559913121	chr4:119504041-119504042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs529388462	chr4:119504078-119504079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs111670044	chr4:119504086-119504087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568915248	chr4:119504098-119504099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531705597	chr4:119504117-119504118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551805913	chr4:119504149-119504150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs193028766	chr4:119504153-119504154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs568634780	chr4:119504155-119504156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs112770953	chr4:119504156-119504157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554450924	chr4:119504173-119504174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567849502	chr4:119504222-119504223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs35890030	chr4:119504232-119504233	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs555453294	chr4:119504274-119504275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs72676188	chr4:119504280-119504281	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs13120874	chr4:119504291-119504292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571858641	chr4:119504294-119504295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112636560	chr4:119504295-119504296	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
19	rs567914967	chr4:119504297-119504298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs70941185	chr4:119504337-119504338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs12331154	chr4:119504339-119504340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs59796281	chr4:119504347-119504348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs12331732	chr4:119504354-119504355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536653652	chr4:119504356-119504357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs12331454	chr4:119504371-119504372	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs28707145	chr4:119504428-119504429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs28408071	chr4:119504430-119504431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs371615510	chr4:119504436-119504437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190517491	chr4:119504437-119504438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375887263	chr4:119504438-119504439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368955350	chr4:119504439-119504440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs76226861	chr4:119504571-119504572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182225555	chr4:119504687-119504688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540127585	chr4:119504709-119504710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs559927109	chr4:119504763-119504764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs76147784	chr4:119504809-119504810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183753662	chr4:119504862-119504863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542737551	chr4:119504904-119504905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562969077	chr4:119504949-119504950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531699962	chr4:119505015-119505016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs551783021	chr4:119505030-119505031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188468148	chr4:119505093-119505094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528025197	chr4:119505105-119505106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368001950	chr4:119505106-119505107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548068679	chr4:119505129-119505130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs532165922	chr4:119505130-119505131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370798777	chr4:119505144-119505145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs140980605	chr4:119505168-119505169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs527292248	chr4:119505223-119505224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs549113474	chr4:119505254-119505255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	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
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Autism	19246517	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Chronic lymphocytic leukemia	21215367	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119504000-119507000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:119505200-119506000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr4:119505200-119506800	Enhancers	K562	blood
4	chr4:119505400-119505800	Active TSS	Duodenum Mucosa	Duodenum
5	chr4:119505600-119505800	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr4:119505600-119506800	Enhancers	Liver	Liver
7	chr4:119505800-119506000	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr4:119505800-119506000	Enhancers	Hela-S3	cervix
9	chr4:119505800-119506200	Enhancers	GM12878-XiMat	blood
10	chr4:119505800-119506800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr4:119505800-119506800	Enhancers	Ovary	ovary
12	chr4:119505800-119507000	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr4:119505800-119507800	Enhancers	Duodenum Mucosa	Duodenum
14	chr4:119506000-119506200	Bivalent Enhancer	NHDF-Ad	bronchial
15	chr4:119506000-119506400	Enhancers	Fetal Muscle Trunk	muscle
16	chr4:119506000-119506400	Enhancers	Fetal Muscle Leg	muscle
17	chr4:119506000-119506400	Enhancers	Left Ventricle	heart
18	chr4:119506000-119506600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr4:119506000-119506600	Weak transcription	Hela-S3	cervix
20	chr4:119506000-119506800	Enhancers	H1 Cell Line	embryonic stem cell
21	chr4:119506000-119506800	Enhancers	H9 Cell Line	embryonic stem cell
22	chr4:119506000-119506800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr4:119506000-119508000	Enhancers	Pancreas	Pancrea

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