Variant report

Variant	esv3341565
Chromosome Location	chr4:173051627-173053825
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:173044514..173046349-chr4:173049744..173052591,2	MCF-7	breast:
2	chr4:173050386..173053411-chr4:173069490..173071981,3	K562	blood:
3	chr4:173053655..173055804-chr4:173057381..173059355,2	K562	blood:
4	chr4:173050637..173053046-chr4:173107907..173109625,2	MCF-7	breast:

Extended variants
information (count: 89 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:89 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190550240	chr4:173051646-173051647	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs574170799	chr4:173051701-173051702	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs72994118	chr4:173051754-173051755	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs547983469	chr4:173051788-173051789	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs541567577	chr4:173051791-173051792	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs371454215	chr4:173051802-173051803	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs566448258	chr4:173051808-173051809	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs373580826	chr4:173051831-173051832	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs114481566	chr4:173051880-173051881	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs143431075	chr4:173051881-173051882	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568883654	chr4:173051890-173051891	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs141850314	chr4:173051963-173051964	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs531380828	chr4:173051971-173051972	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201550304	chr4:173051973-173051974	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs60679939	chr4:173052016-173052017	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557642989	chr4:173052031-173052032	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs76468690	chr4:173052054-173052055	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs115372895	chr4:173052085-173052086	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs6553608	chr4:173052098-173052099	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs184984413	chr4:173052099-173052100	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs543153281	chr4:173052128-173052129	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562820267	chr4:173052159-173052160	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs57118139	chr4:173052184-173052185	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531774556	chr4:173052201-173052202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113371697	chr4:173052208-173052209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs545387980	chr4:173052244-173052245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565600009	chr4:173052287-173052288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs527944193	chr4:173052290-173052291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190323075	chr4:173052359-173052360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547684791	chr4:173052394-173052395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs11132928	chr4:173052396-173052397	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs11938066	chr4:173052420-173052421	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs549092603	chr4:173052426-173052427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs575926986	chr4:173052428-173052429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs35699070	chr4:173052580-173052581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs11132929	chr4:173052581-173052582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531051488	chr4:173052582-173052583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs202208402	chr4:173052583-173052584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs544517717	chr4:173052593-173052594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs62331106	chr4:173052603-173052604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201260944	chr4:173052605-173052606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568822588	chr4:173052624-173052625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs34442141	chr4:173052630-173052631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs372155453	chr4:173052631-173052632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs386402284	chr4:173052639-173052640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs397941300	chr4:173052640-173052641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537466933	chr4:173052663-173052664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs557283082	chr4:173052664-173052665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs139218667	chr4:173052672-173052673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs533872530	chr4:173052674-173052675	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:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:173043600-173052800	Weak transcription	K562	blood
2	chr4:173050200-173052800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr4:173051000-173052200	Enhancers	Muscle Satellite Cultured Cells	--
4	chr4:173051400-173062800	Weak transcription	NHDF-Ad	bronchial
5	chr4:173052200-173053600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr4:173052800-173053000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr4:173052800-173053600	Enhancers	NH-A	brain
8	chr4:173052800-173053800	Enhancers	Fetal Brain Male	brain
9	chr4:173052800-173054800	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr4:173053200-173054200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr4:173053600-173053800	Enhancers	Muscle Satellite Cultured Cells	--
12	chr4:173053600-173055800	Weak transcription	NH-A	brain
13	chr4:173053800-173054200	Weak transcription	Muscle Satellite Cultured Cells	--

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