Variant report

Variant	esv3399627
Chromosome Location	chr4:171963202-171966150
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	chr4:171963447..171966281-chr4:171969448..171971001,2	MCF-7	breast:

Extended variants
information (count: 88 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:88 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190493966	chr4:171963408-171963409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs539152172	chr4:171963426-171963427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs552762458	chr4:171963428-171963429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528733503	chr4:171963434-171963435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs535003211	chr4:171963444-171963445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555283424	chr4:171963487-171963488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573537851	chr4:171963490-171963491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536271237	chr4:171963514-171963515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183017370	chr4:171963528-171963529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs79560609	chr4:171963585-171963586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs115782119	chr4:171963590-171963591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564737175	chr4:171963618-171963619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs114761578	chr4:171963627-171963628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs113542224	chr4:171963635-171963636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530930450	chr4:171963708-171963709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs529966848	chr4:171963736-171963737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs376117545	chr4:171963831-171963832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs143951617	chr4:171963859-171963860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550115640	chr4:171963860-171963861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs186852895	chr4:171963878-171963879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs532602873	chr4:171963920-171963921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550834626	chr4:171963924-171963925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191681100	chr4:171963960-171963961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs567710643	chr4:171963976-171963977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs117989235	chr4:171963990-171963991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184181599	chr4:171963991-171963992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187926880	chr4:171963993-171963994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192455657	chr4:171964024-171964025	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs146450702	chr4:171964025-171964026	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs549168729	chr4:171964048-171964049	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs555695099	chr4:171964086-171964087	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs575681320	chr4:171964097-171964098	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs538340762	chr4:171964108-171964109	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs200692705	chr4:171964153-171964154	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs10010024	chr4:171964165-171964166	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs555056986	chr4:171964167-171964168	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs534948368	chr4:171964168-171964169	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs575016732	chr4:171964169-171964170	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs571888141	chr4:171964197-171964198	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs541192921	chr4:171964207-171964208	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs185594730	chr4:171964231-171964232	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs560942140	chr4:171964243-171964244	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs574636726	chr4:171964245-171964246	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs543353967	chr4:171964261-171964262	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs563668432	chr4:171964271-171964272	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs532590822	chr4:171964273-171964274	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs546303157	chr4:171964337-171964338	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs559911818	chr4:171964342-171964343	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs528597250	chr4:171964352-171964353	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs548727508	chr4:171964355-171964356	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
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
Lung cancer	16773561	CNVD
Colorectal cancer	16774939	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:171963400-171964000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:171964000-171964600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
3	chr4:171964000-171964800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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