Variant report

Variant	esv3415366
Chromosome Location	chr4:171637677-171641175
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:171510484..171511294-chr4:171637729..171638500,2	MCF-7	breast:
2	chr4:171515518..171516388-chr4:171637945..171638514,2	MCF-7	breast:
3	chr4:171510470..171511103-chr4:171637783..171638586,3	MCF-7	breast:

Extended variants
information (count: 45 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566597693	chr4:171640209-171640210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs149880777	chr4:171640256-171640257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs557856471	chr4:171640257-171640258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs371803918	chr4:171640265-171640266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs534055475	chr4:171640274-171640275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs555634734	chr4:171640280-171640281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs573896841	chr4:171640307-171640308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs144868117	chr4:171640312-171640313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs181508339	chr4:171640318-171640319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577626056	chr4:171640333-171640334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs112779364	chr4:171640356-171640357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs559890763	chr4:171640396-171640397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs528809917	chr4:171640451-171640452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs570740120	chr4:171640452-171640453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs540511786	chr4:171640486-171640487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs141475370	chr4:171640494-171640495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs558103601	chr4:171640508-171640509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs550718223	chr4:171640518-171640519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs373319633	chr4:171640548-171640549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs376194185	chr4:171640636-171640637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs1403211	chr4:171640683-171640684	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs533262268	chr4:171640697-171640698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs551776974	chr4:171640705-171640706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs566734710	chr4:171640740-171640741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs114495705	chr4:171640742-171640743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs186943133	chr4:171640785-171640786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs190176803	chr4:171640816-171640817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs556927148	chr4:171640820-171640821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs555720375	chr4:171640839-171640840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs145156808	chr4:171640868-171640869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs538047094	chr4:171640892-171640893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs78486080	chr4:171640896-171640897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs79852116	chr4:171640898-171640899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs556076360	chr4:171640909-171640910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs34635330	chr4:171640910-171640911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs577716443	chr4:171640912-171640913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs544755756	chr4:171640916-171640917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs397800829	chr4:171640918-171640919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs553766290	chr4:171640919-171640920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs571727162	chr4:171641048-171641049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs537615931	chr4:171641068-171641069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs542189871	chr4:171641074-171641075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs369584475	chr4:171641110-171641111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs562049426	chr4:171641127-171641128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs549928238	chr4:171641157-171641158	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
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
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
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	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
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	17053054	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Neuroblastoma	16790693	CNVD
Developmental delay	22127048	CNVD
Schizophrenia	23813976	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:171640200-171641200	Enhancers	Fetal Kidney	kidney

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