Variant report

Variant	nsv980069
Chromosome Location	chr3:110584636-110595867
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	chr3:110584917..110587660-chr3:110588068..110591484,4	MCF-7	breast:
2	chr3:110584917..110587660-chr3:110588068..110591484,4	MCF-7	breast:

Extended variants
information (count: 192 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:192 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531624858	chr3:110584646-110584647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs551620206	chr3:110584668-110584669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs111854900	chr3:110584695-110584696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192507428	chr3:110584696-110584697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs543296154	chr3:110584719-110584720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs539554599	chr3:110584736-110584737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185710528	chr3:110584773-110584774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs936512	chr3:110584785-110584786	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs535890026	chr3:110584790-110584791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs555319572	chr3:110584810-110584811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575566181	chr3:110584910-110584911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs549572106	chr3:110584915-110584916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs141384413	chr3:110584917-110584918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs78692156	chr3:110584936-110584937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190076025	chr3:110584941-110584942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs73854205	chr3:110584943-110584944	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs564826393	chr3:110584960-110584961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs117622398	chr3:110585012-110585013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542681711	chr3:110585014-110585015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs72948795	chr3:110585070-110585071	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs531662783	chr3:110585081-110585082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200683236	chr3:110585089-110585090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs545277753	chr3:110585120-110585121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564941296	chr3:110585129-110585130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs552891923	chr3:110585152-110585153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs527523524	chr3:110585245-110585246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200189502	chr3:110585247-110585248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201259510	chr3:110585253-110585254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375045038	chr3:110585255-110585256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs71616113	chr3:110585256-110585257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs57865259	chr3:110585257-110585258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs368393142	chr3:110585258-110585259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs149478928	chr3:110585263-110585264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs67949416	chr3:110585268-110585269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs2399366	chr3:110585269-110585270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7430576	chr3:110585279-110585280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs7428815	chr3:110585281-110585282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs61399192	chr3:110585359-110585360	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs535504860	chr3:110585365-110585366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs78449068	chr3:110585507-110585508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs529330223	chr3:110585541-110585542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs150797841	chr3:110585542-110585543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs374788922	chr3:110585590-110585591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568883091	chr3:110585595-110585596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs1462802	chr3:110585622-110585623	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs77916376	chr3:110585643-110585644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571836619	chr3:110585657-110585658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs149512967	chr3:110585787-110585788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs75371702	chr3:110585838-110585839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs563275926	chr3:110585881-110585882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18765545	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Multiple myeloma	17550852	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	21115979	CNVD
Burkitt''s lymphoma	20823134	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:110556400-110587200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:110588000-110588600	Enhancers	HepG2	liver
3	chr3:110588400-110589000	Enhancers	Fetal Brain Female	brain
4	chr3:110588400-110589200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr3:110588600-110589000	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr3:110594000-110594200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
7	chr3:110594200-110607600	Weak transcription	H1 Cell Line	embryonic stem cell

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