Variant report

Variant	esv3450943
Chromosome Location	chr4:167511002-167515800
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:167086761..167087587-chr4:167515275..167516081,4	MCF-7	breast:
2	chr4:167090069..167090971-chr4:167515205..167515895,2	MCF-7	breast:
3	chr4:167245228..167246184-chr4:167515396..167516066,3	MCF-7	breast:
4	chr4:167423153..167423656-chr4:167515182..167515903,2	MCF-7	breast:
5	chr4:167244994..167245863-chr4:167515216..167516030,3	MCF-7	breast:

Extended variants
information (count: 150 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:150 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528327513	chr4:167511148-167511149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs111808784	chr4:167511163-167511164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs185748514	chr4:167511200-167511201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559109914	chr4:167511324-167511325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs577337657	chr4:167511332-167511333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs371440826	chr4:167511365-167511366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541726907	chr4:167511440-167511441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs571814458	chr4:167511463-167511464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369571878	chr4:167511488-167511489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs76358020	chr4:167511489-167511490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs76987353	chr4:167511500-167511501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs370181678	chr4:167511503-167511504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs138849286	chr4:167511522-167511523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs12648538	chr4:167511550-167511551	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs149346965	chr4:167511555-167511556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571433198	chr4:167511583-167511584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190551105	chr4:167511649-167511650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547696416	chr4:167511718-167511719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565973986	chr4:167511731-167511732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs7340870	chr4:167511740-167511741	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs139776867	chr4:167511802-167511803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548215658	chr4:167511836-167511837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs10001019	chr4:167511844-167511845	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs369162024	chr4:167511900-167511901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs373804941	chr4:167511950-167511951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs79675856	chr4:167511974-167511975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577401802	chr4:167512000-167512001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs534884801	chr4:167512078-167512079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553299202	chr4:167512094-167512095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs574784970	chr4:167512095-167512096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568319232	chr4:167512120-167512121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538892107	chr4:167512127-167512128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542079840	chr4:167512161-167512162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs56680202	chr4:167512187-167512188	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs546310138	chr4:167512203-167512204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs144694507	chr4:167512225-167512226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs148683627	chr4:167512260-167512261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547264406	chr4:167512263-167512264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs35603996	chr4:167512315-167512316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs557422732	chr4:167512368-167512369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs559547985	chr4:167512406-167512407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs143501233	chr4:167512431-167512432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs530018683	chr4:167512524-167512525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs548476542	chr4:167512528-167512529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577677077	chr4:167512575-167512576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371037709	chr4:167512580-167512581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs568570533	chr4:167512619-167512620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs146231375	chr4:167512624-167512625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs183086509	chr4:167512628-167512629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs7665224	chr4:167512650-167512651	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
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
Breast cancer	17603634	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
Lung cancer	19208797	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
Breast cancer	17393978	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
Congenital diaphragmatic hernia	21085971	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
Glioblastoma multiforme	22286061	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16750200	CNVD
Colorectal cancer	16774939	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Myelofibrosis	22110671	CNVD
intellectual deficit	22127048	CNVD
abnormal development	18461090	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Schizophrenia	20967226	CNVD
Epilepsy	21635232	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:167503600-167515400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr4:167515200-167515600	Enhancers	H9 Cell Line	embryonic stem cell
3	chr4:167515400-167515600	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr4:167515600-167523200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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