Variant report

Variant	esv1805137
Chromosome Location	chr4:172981543-172992435
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:172988137..172989930-chr4:172993221..172995055,2	K562	blood:
2	chr4:172979164..172981714-chr4:172998153..173000134,2	K562	blood:
3	chr4:172978945..172981586-chr4:173074547..173076699,2	K562	blood:
4	chr4:172977943..172980712-chr4:172981081..172983923,2	K562	blood:

Extended variants
information (count: 392 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:392 , 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	rs188778354	chr4:172981842-172981843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs527458021	chr4:172981868-172981869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs75745329	chr4:172981940-172981941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs146112624	chr4:172981965-172981966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs373670088	chr4:172981974-172981975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs181673586	chr4:172981999-172982000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs530046652	chr4:172982044-172982045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs549720333	chr4:172982171-172982172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs559247021	chr4:172982187-172982188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs532929305	chr4:172982188-172982189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs538990870	chr4:172982200-172982201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs559188641	chr4:172982209-172982210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs551170381	chr4:172982213-172982214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs186530393	chr4:172982292-172982293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs144480979	chr4:172982313-172982314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs77470061	chr4:172982335-172982336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs74362004	chr4:172982336-172982337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs553602555	chr4:172982337-172982338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs75327166	chr4:172982348-172982349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs76827553	chr4:172982349-172982350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs540187227	chr4:172982360-172982361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs146148634	chr4:172982361-172982362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs573730047	chr4:172982443-172982444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs189709712	chr4:172982466-172982467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs116317566	chr4:172982606-172982607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs180837270	chr4:172982635-172982636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs544999545	chr4:172982646-172982647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs35553785	chr4:172982685-172982686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs73867605	chr4:172982695-172982696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs541178483	chr4:172982754-172982755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs552225051	chr4:172982806-172982807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs531371595	chr4:172982892-172982893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs142276093	chr4:172982893-172982894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs561052255	chr4:172982905-172982906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs185819057	chr4:172982927-172982928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs549856103	chr4:172982974-172982975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs569750471	chr4:172982978-172982979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs532516991	chr4:172983030-172983031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs60800149	chr4:172983059-172983060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs372047927	chr4:172983062-172983063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs115116132	chr4:172983069-172983070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs72001541	chr4:172983097-172983098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs11284710	chr4:172983116-172983117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs140136103	chr4:172983121-172983122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs548809878	chr4:172983126-172983127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs568660678	chr4:172983191-172983192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs76284816	chr4:172983203-172983204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs145865438	chr4:172983215-172983216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs576126024	chr4:172983216-172983217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538592446	chr4:172983221-172983222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
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
Schizophrenia	23813976	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	22127048	CNVD
Glioblastoma multiforme	22286061	CNVD
Neuroblastoma	21899760	CNVD
Gastric adenocarcinoma	19115996	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:172981800-172983200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr4:172983200-172983600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr4:172983600-172984000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr4:172984000-172984400	Enhancers	H1 Cell Line	embryonic stem cell
5	chr4:172984000-172985400	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr4:172984000-172985800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr4:172984200-172984400	Enhancers	H9 Cell Line	embryonic stem cell
8	chr4:172984200-172985200	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr4:172984200-172985400	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr4:172984400-172985400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr4:172984800-172985400	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr4:172984800-172985600	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr4:172985400-172985800	Enhancers	H9 Cell Line	embryonic stem cell
14	chr4:172985400-172989200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr4:172985800-172986400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr4:172985800-172989000	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr4:172989000-172990400	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr4:172989200-172989600	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr4:172989400-172990400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr4:172989600-172992600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr4:172990400-172992400	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr4:172992400-172995200	Enhancers	HUES48 Cell Line	embryonic stem cell

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