Variant report

Variant	esv3417173
Chromosome Location	chr4:132550396-132576180
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:132012841..132013396-chr4:132565892..132566443,2	MCF-7	breast:
2	chr4:132387674..132388400-chr4:132565905..132566424,2	MCF-7	breast:
3	chr4:132564996..132567264-chr4:132571046..132573271,2	K562	blood:
4	chr4:132564996..132567264-chr4:132571046..132573271,2	K562	blood:

Extended variants
information (count: 172 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:172 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555181370	chr4:132551666-132551667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs188379287	chr4:132551772-132551773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs535862800	chr4:132551792-132551793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs80300110	chr4:132551798-132551799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569245853	chr4:132551842-132551843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554405393	chr4:132551875-132551876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556419413	chr4:132551892-132551893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs572753347	chr4:132551895-132551896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544954838	chr4:132551941-132551942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs76374485	chr4:132551963-132551964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs574971594	chr4:132551966-132551967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs371547803	chr4:132552009-132552010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs1119854	chr4:132552108-132552109	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs560414736	chr4:132552115-132552116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs142804545	chr4:132552157-132552158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs367788354	chr4:132552170-132552171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571735404	chr4:132552189-132552190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs529796063	chr4:132552204-132552205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540137515	chr4:132552226-132552227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs560371057	chr4:132552228-132552229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs532418718	chr4:132552264-132552265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552530404	chr4:132552295-132552296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370293813	chr4:132552373-132552374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs115371010	chr4:132552374-132552375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531840896	chr4:132552402-132552403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs115861423	chr4:132552413-132552414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs78625290	chr4:132552414-132552415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs72618006	chr4:132552449-132552450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs77695480	chr4:132552454-132552455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs80313917	chr4:132552455-132552456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs376130063	chr4:132552458-132552459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200296118	chr4:132552460-132552461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113805213	chr4:132552495-132552496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184164045	chr4:132552539-132552540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538282354	chr4:132552575-132552576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs138171834	chr4:132552576-132552577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs79349050	chr4:132552596-132552597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs528023792	chr4:132552629-132552630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543909034	chr4:132552630-132552631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554194310	chr4:132552640-132552641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574311629	chr4:132552684-132552685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs71593535	chr4:132552696-132552697	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs35698569	chr4:132552697-132552698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs369154382	chr4:132552703-132552704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs70948130	chr4:132552724-132552725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7691316	chr4:132552730-132552731	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs532416415	chr4:132552740-132552741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs545925478	chr4:132552746-132552747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562862062	chr4:132552766-132552767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs189143237	chr4:132552767-132552768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
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
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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	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
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
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Mental retardation	17847001	CNVD
Myelofibrosis	22110671	CNVD
Autism	18923514	CNVD
Autism	22241247	CNVD
Mental retardation	17901693	CNVD
small cell lung cancer	20016488	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:132551600-132553800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:132553000-132553600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
3	chr4:132553200-132554400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
4	chr4:132553800-132554600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:132554200-132554400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:132556400-132557000	Active TSS	Fetal Heart	heart
7	chr4:132556600-132557000	Enhancers	Esophagus	oesophagus
8	chr4:132565800-132566200	Enhancers	Dnd41	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links