Variant report

Variant	esv1840210
Chromosome Location	chr4:133198320-133205448
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 135 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:135 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558504186	chr4:133200045-133200046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs141790503	chr4:133200094-133200095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541430538	chr4:133200162-133200163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs150585719	chr4:133200188-133200189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532826836	chr4:133200197-133200198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs559936305	chr4:133200205-133200206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530117559	chr4:133200224-133200225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs563071936	chr4:133200320-133200321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs530666205	chr4:133200355-133200356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572281806	chr4:133200385-133200386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568489626	chr4:133201222-133201223	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs534297695	chr4:133201374-133201375	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs553921230	chr4:133201418-133201419	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs76116504	chr4:133201513-133201514	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs187252877	chr4:133201542-133201543	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs193175569	chr4:133201546-133201547	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs185272809	chr4:133201553-133201554	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs370396290	chr4:133201593-133201594	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs576790330	chr4:133201616-133201617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542467013	chr4:133201621-133201622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562303133	chr4:133201632-133201633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574486249	chr4:133201646-133201647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540281246	chr4:133201676-133201677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs1499332	chr4:133201686-133201687	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs189777379	chr4:133201716-133201717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs532281601	chr4:133201726-133201727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12646539	chr4:133201806-133201807	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs112160052	chr4:133201808-133201809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs77846974	chr4:133201842-133201843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531482201	chr4:133201849-133201850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs565388375	chr4:133201852-133201853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs568238188	chr4:133201873-133201874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs13114087	chr4:133201894-133201895	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs547784841	chr4:133201900-133201901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547825721	chr4:133201915-133201916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181424787	chr4:133201940-133201941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539873026	chr4:133201951-133201952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs556573391	chr4:133201964-133201965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12647149	chr4:133201974-133201975	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs148970677	chr4:133202038-133202039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs530059306	chr4:133202065-133202066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs74529325	chr4:133202116-133202117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs183762393	chr4:133202238-133202239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188333210	chr4:133202242-133202243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553417428	chr4:133202259-133202260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs569797823	chr4:133202275-133202276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs538774989	chr4:133202309-133202310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558714408	chr4:133202351-133202352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565773717	chr4:133202461-133202462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576514886	chr4:133202526-133202527	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:133200000-133200400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr4:133201200-133201600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr4:133201600-133205600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr4:133204200-133204600	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr4:133204200-133204600	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr4:133204600-133205800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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