Variant report

Variant	esv3410478
Chromosome Location	chr4:160667252-160669350
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 99 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:99 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570769563	chr4:160667318-160667319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs539018392	chr4:160667458-160667459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549540392	chr4:160667498-160667499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549795744	chr4:160667552-160667553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs543339578	chr4:160667554-160667555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs78354145	chr4:160667619-160667620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569532973	chr4:160667667-160667668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs150039905	chr4:160667681-160667682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192496448	chr4:160667682-160667683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs529094599	chr4:160667692-160667693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184358543	chr4:160667700-160667701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs188028996	chr4:160667714-160667715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577963774	chr4:160667715-160667716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs543441894	chr4:160667716-160667717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555383617	chr4:160667754-160667755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557359688	chr4:160667768-160667769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs547198143	chr4:160667789-160667790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs142497806	chr4:160667862-160667863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs574027402	chr4:160667882-160667883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543079562	chr4:160667934-160667935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112566291	chr4:160667943-160667944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374026097	chr4:160667982-160667983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs146445288	chr4:160667987-160667988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs67920817	chr4:160667990-160667991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191738781	chr4:160667991-160667992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564370073	chr4:160668020-160668021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs368812939	chr4:160668029-160668030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533300529	chr4:160668047-160668048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs558984071	chr4:160668070-160668071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs556546584	chr4:160668079-160668080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs112252425	chr4:160668089-160668090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183832276	chr4:160668096-160668097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs147811066	chr4:160668099-160668100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs376952183	chr4:160668102-160668103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369258909	chr4:160668105-160668106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs373091544	chr4:160668107-160668108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2348625	chr4:160668113-160668114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs28844289	chr4:160668115-160668116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs376087421	chr4:160668120-160668121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs370144443	chr4:160668121-160668122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs114292883	chr4:160668127-160668128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528906819	chr4:160668128-160668129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs145317736	chr4:160668129-160668130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565438172	chr4:160668136-160668137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs142514810	chr4:160668151-160668152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7435291	chr4:160668153-160668154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs28887924	chr4:160668162-160668163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs28835579	chr4:160668168-160668169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs7435293	chr4:160668173-160668174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs145174870	chr4:160668175-160668176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
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
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
T-cell acute lymphoblastic leukemia	18185524	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	20409316	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	20164919	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	19805367	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:160657000-160669200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:160666600-160685400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr4:160668800-160669200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:160669200-160669400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:160669200-160669600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:160669200-160669600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr4:160669200-160669600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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