Variant report

Variant	nsv293508
Chromosome Location	chr4:88238744-88241534
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	chr4:88225790..88227669-chr4:88236912..88239118,2	MCF-7	breast:
2	chr4:88237707..88239445-chr4:88243261..88245305,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000170509	chromatin interactions

Extended variants
information (count: 112 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:112 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150725645	chr4:88238761-88238762	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs573817340	chr4:88238800-88238801	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs115143274	chr4:88238806-88238807	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs556345226	chr4:88238827-88238828	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs56293231	chr4:88238850-88238851	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs527611724	chr4:88238854-88238855	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs529063353	chr4:88238864-88238865	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs9995237	chr4:88238876-88238877	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs139379809	chr4:88238895-88238896	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs189016777	chr4:88238916-88238917	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs180813765	chr4:88238935-88238936	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs112058694	chr4:88238962-88238963	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs562032640	chr4:88239018-88239019	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs527494143	chr4:88239096-88239097	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs374382689	chr4:88239132-88239133	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs13112695	chr4:88239150-88239151	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs116470215	chr4:88239187-88239188	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs562715314	chr4:88239231-88239232	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs367855322	chr4:88239253-88239254	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs144157674	chr4:88239309-88239310	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs55968517	chr4:88239327-88239328	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs76457529	chr4:88239331-88239332	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs79743150	chr4:88239332-88239333	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs566508816	chr4:88239371-88239372	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs185258911	chr4:88239382-88239383	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs548920395	chr4:88239431-88239432	Weak transcription Active TSS Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs567369472	chr4:88239458-88239459	Weak transcription Active TSS Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs368383735	chr4:88239481-88239482	Weak transcription Active TSS Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs570809646	chr4:88239488-88239489	Weak transcription Active TSS Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs372050636	chr4:88239493-88239494	Weak transcription Active TSS Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs375353605	chr4:88239500-88239501	Weak transcription Active TSS Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs540096704	chr4:88239501-88239502	Weak transcription Active TSS Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs147558643	chr4:88239516-88239517	Weak transcription Active TSS Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs369113353	chr4:88239519-88239520	Weak transcription Active TSS Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs372506188	chr4:88239530-88239531	Weak transcription Active TSS Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs201623474	chr4:88239561-88239562	Weak transcription Active TSS Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs113733428	chr4:88239566-88239567	Weak transcription Active TSS Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs188462752	chr4:88239591-88239592	Weak transcription Active TSS Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs369699418	chr4:88239607-88239608	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs13118664	chr4:88239609-88239610	Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs181306440	chr4:88239703-88239704	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs540277898	chr4:88239736-88239737	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs555687736	chr4:88239752-88239753	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs111279145	chr4:88239775-88239776	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs544282993	chr4:88239776-88239777	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs191961438	chr4:88239778-88239779	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs533345612	chr4:88239841-88239842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs13119654	chr4:88239853-88239854	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs112880953	chr4:88239912-88239913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs76038628	chr4:88239949-88239950	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
Multiple myeloma	17550852	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
primary effusion lymphomas	17116491	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
Acute monocytic leukemia	16498392	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	22522925	CNVD
Myelofibrosis	22110671	CNVD
Parkinson disease	20877625	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:88228000-88239600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr4:88229000-88245000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr4:88230000-88240000	Weak transcription	Brain Angular Gyrus	brain
4	chr4:88230600-88239600	Weak transcription	Primary T cells from cord blood	blood
5	chr4:88235200-88243800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr4:88235600-88241400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr4:88235800-88242600	Weak transcription	Adipose Nuclei	Adipose
8	chr4:88236800-88239000	Weak transcription	Pancreas	Pancrea
9	chr4:88236800-88243200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr4:88237800-88238800	Genic enhancers	Liver	Liver
11	chr4:88237800-88239800	Enhancers	Hela-S3	cervix
12	chr4:88238400-88239200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:88238400-88239600	Weak transcription	Left Ventricle	heart
14	chr4:88238600-88239200	Weak transcription	Fetal Intestine Small	intestine
15	chr4:88238600-88253400	Weak transcription	HepG2	liver
16	chr4:88238800-88239000	Weak transcription	Liver	Liver
17	chr4:88239000-88239600	Genic enhancers	Liver	Liver
18	chr4:88239200-88239400	Enhancers	Fetal Intestine Small	intestine
19	chr4:88239200-88239400	Enhancers	A549	lung
20	chr4:88239400-88239600	Enhancers	Pancreas	Pancrea
21	chr4:88239400-88239800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr4:88239400-88239800	Enhancers	Placenta	Placenta
23	chr4:88239400-88248000	Weak transcription	Fetal Intestine Small	intestine
24	chr4:88239400-88255400	Weak transcription	A549	lung
25	chr4:88239600-88239800	Active TSS	Left Ventricle	heart
26	chr4:88239600-88240400	Weak transcription	Liver	Liver
27	chr4:88239800-88240200	Weak transcription	Hela-S3	cervix
28	chr4:88240200-88241000	Enhancers	Hela-S3	cervix
29	chr4:88240400-88240600	Enhancers	Liver	Liver
30	chr4:88240600-88241000	Flanking Active TSS	Liver	Liver
31	chr4:88241000-88244200	Active TSS	Liver	Liver

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