Variant report

Variant	esv3497625
Chromosome Location	chr4:104231403-104250001
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:104243719..104245643-chr4:104247001..104248713,2	K562	blood:
2	chr4:104243719..104245643-chr4:104247001..104248713,2	K562	blood:
3	chr4:104246786..104248754-chr4:104256476..104258038,2	K562	blood:

Extended variants
information (count: 368 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:368 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144214703	chr4:104231438-104231439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs118004948	chr4:104231461-104231462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550941294	chr4:104231502-104231503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs569274290	chr4:104231508-104231509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs540377438	chr4:104231513-104231514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550159605	chr4:104231580-104231581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs112142689	chr4:104231590-104231591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs187040916	chr4:104231620-104231621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554286580	chr4:104231654-104231655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs566154726	chr4:104231657-104231658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs577158844	chr4:104231698-104231699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs536838293	chr4:104231716-104231717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191251473	chr4:104231726-104231727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558200879	chr4:104231750-104231751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs576478047	chr4:104231751-104231752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs554735042	chr4:104231752-104231753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs35950633	chr4:104231788-104231789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs543744653	chr4:104231802-104231803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555333217	chr4:104231808-104231809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573823299	chr4:104231811-104231812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs182360318	chr4:104231852-104231853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540868240	chr4:104231853-104231854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559428637	chr4:104231866-104231867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs139977735	chr4:104231878-104231879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs62338903	chr4:104231916-104231917	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs562945655	chr4:104231917-104231918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs377616119	chr4:104231974-104231975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs188697664	chr4:104232000-104232001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370816822	chr4:104232016-104232017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs529517309	chr4:104232035-104232036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs547659502	chr4:104232078-104232079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566241898	chr4:104232092-104232093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374745039	chr4:104232158-104232159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551853306	chr4:104232167-104232168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs193290175	chr4:104232210-104232211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185616157	chr4:104232228-104232229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12506948	chr4:104232248-104232249	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs573834084	chr4:104232254-104232255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs190135938	chr4:104232277-104232278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs11722667	chr4:104232328-104232329	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs12499353	chr4:104232363-104232364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12506979	chr4:104232368-104232369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534912870	chr4:104232388-104232389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553494808	chr4:104232391-104232392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574940522	chr4:104232514-104232515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12499479	chr4:104232554-104232555	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs562438319	chr4:104232579-104232580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs529573908	chr4:104232589-104232590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs548043272	chr4:104232605-104232606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs559991795	chr4:104232783-104232784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Autism	22495311	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
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	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
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	18000384	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
myeloid cancer	21057493	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Chronic lymphocytic leukemia	21215367	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:104225000-104232800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:104239200-104240000	Enhancers	H1 Cell Line	embryonic stem cell
3	chr4:104239200-104240400	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr4:104239400-104240000	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr4:104239400-104240000	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr4:104239600-104240000	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr4:104239600-104240200	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr4:104240200-104247200	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr4:104240400-104248000	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr4:104245600-104245800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr4:104245800-104246400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr4:104248000-104248200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr4:104248000-104248600	Enhancers	HUES64 Cell Line	embryonic stem cell

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