Variant report

Variant	esv3339539
Chromosome Location	chr16:71635901-71639399
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:71634121..71636611-chr16:71640952..71642935,2	MCF-7	breast:
2	chr16:71639360..71642316-chr16:71645937..71648287,2	K562	blood:

Extended variants
information (count: 74 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566439308	chr16:71635923-71635924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs8056939	chr16:71635925-71635926	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs563181092	chr16:71635945-71635946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575160024	chr16:71635962-71635963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs377737701	chr16:71635968-71635969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs191818901	chr16:71635973-71635974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs370190304	chr16:71635989-71635990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs527410593	chr16:71636014-71636015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs12444890	chr16:71636026-71636027	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs564346763	chr16:71636052-71636053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184103121	chr16:71636059-71636060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs549517985	chr16:71636062-71636063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs529342127	chr16:71636070-71636071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547790113	chr16:71636123-71636124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568035102	chr16:71636124-71636125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535328878	chr16:71636185-71636186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs75321583	chr16:71636294-71636295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs374865426	chr16:71636309-71636310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548596611	chr16:71636332-71636333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs118037433	chr16:71636355-71636356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs534347020	chr16:71636368-71636369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558794996	chr16:71636434-71636435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs188255833	chr16:71636444-71636445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs367927588	chr16:71636483-71636484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs193179575	chr16:71636527-71636528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs34759684	chr16:71636543-71636544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs397856131	chr16:71636544-71636545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556762861	chr16:71636557-71636558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575245138	chr16:71636558-71636559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs199984047	chr16:71636581-71636582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs560140454	chr16:71636587-71636588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs2334884	chr16:71636591-71636592	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs545742938	chr16:71636622-71636623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs563841747	chr16:71636659-71636660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs531277764	chr16:71636710-71636711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201963128	chr16:71636719-71636720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538535620	chr16:71636725-71636726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs5817788	chr16:71636726-71636727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs71403857	chr16:71636879-71636880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs374219134	chr16:71636883-71636884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543887314	chr16:71636955-71636956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200632560	chr16:71637177-71637178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567523396	chr16:71637184-71637185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201503949	chr16:71637651-71637652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543228108	chr16:71637852-71637853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs561528588	chr16:71637867-71637868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529177031	chr16:71637873-71637874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547369816	chr16:71637889-71637890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182609335	chr16:71638186-71638187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187345011	chr16:71638197-71638198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16702952	CNVD
Medulloblastoma	16968546	CNVD
Prostate cancer	19242612	CNVD
Cancer	22429812	CNVD
Ewing''s sarcoma	21437220	CNVD
Ewing''s sarcoma	22429812	CNVD
Melanoma	18172304	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Multiple myeloma	21628407	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
Chordoma	18071362	CNVD
Prostate cancer	17245344	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute myeloid leukemia	16864856	CNVD
Infiltrating lobular breast cancer	19191266	CNVD
T-cell lymphomas	19863542	CNVD
Hepatocellular carcinoma	16750200	CNVD
Medulloblastoma	16783165	CNVD
Neuroblastoma	21899760	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	21806811	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21509527	CNVD
Melanoma	22183965	CNVD
Neuroblastoma	18923524	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71635200-71640600	Weak transcription	HepG2	liver

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