Variant report

Variant	nsv978956
Chromosome Location	chr2:186853668-186860551
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	chr2:186851763..186854059-chr2:186854208..186855953,2	MCF-7	breast:
2	chr2:186851763..186854059-chr2:186854208..186855953,2	MCF-7	breast:

Extended variants
information (count: 256 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:256 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75450176	chr2:186853670-186853671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs191848228	chr2:186853680-186853681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs184110560	chr2:186853694-186853695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs545962584	chr2:186853712-186853713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs149971349	chr2:186853739-186853740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs145206540	chr2:186853780-186853781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs7559177	chr2:186853796-186853797	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs547015392	chr2:186853797-186853798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs10184593	chr2:186853822-186853823	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs550067692	chr2:186853837-186853838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs529211395	chr2:186853884-186853885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs113182858	chr2:186853892-186853893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs562580902	chr2:186853905-186853906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs374920347	chr2:186853907-186853908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs148788807	chr2:186853909-186853910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs551875566	chr2:186853910-186853911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs570525851	chr2:186853921-186853922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs534833391	chr2:186853932-186853933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs111265430	chr2:186853959-186853960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs546536406	chr2:186853965-186853966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs568365395	chr2:186853974-186853975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs535796767	chr2:186853975-186853976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs373676291	chr2:186854101-186854102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs367824074	chr2:186854117-186854118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539138826	chr2:186854126-186854127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557858325	chr2:186854135-186854136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs372212900	chr2:186854136-186854137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375891616	chr2:186854172-186854173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190158632	chr2:186854277-186854278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181879509	chr2:186854302-186854303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs74704370	chr2:186854317-186854318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372068609	chr2:186854357-186854358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562518119	chr2:186854409-186854410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs533175568	chr2:186854415-186854416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs147965003	chr2:186854444-186854445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560645010	chr2:186854453-186854454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528226104	chr2:186854459-186854460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs546769067	chr2:186854486-186854487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs186561206	chr2:186854497-186854498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs75961166	chr2:186854644-186854645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs537299765	chr2:186854652-186854653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550921557	chr2:186854654-186854655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568843433	chr2:186854666-186854667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539436715	chr2:186854673-186854674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs4583417	chr2:186854691-186854692	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs368808410	chr2:186854728-186854729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566566313	chr2:186854738-186854739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs533699375	chr2:186854741-186854742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555522995	chr2:186854783-186854784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181775182	chr2:186854818-186854819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Urothelial carcinoma	21177765	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:186828400-186857400	Weak transcription	Aorta	Aorta
2	chr2:186828800-186867400	Weak transcription	Ovary	ovary
3	chr2:186845200-186867400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:186852400-186855600	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr2:186853600-186854000	Enhancers	HepG2	liver
6	chr2:186854000-186855600	Weak transcription	HepG2	liver
7	chr2:186854200-186855800	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr2:186854600-186867200	Weak transcription	Left Ventricle	heart
9	chr2:186854800-186857200	Weak transcription	Stomach Smooth Muscle	stomach
10	chr2:186854800-186857400	Weak transcription	Liver	Liver
11	chr2:186855000-186857600	Weak transcription	Brain Hippocampus Middle	brain
12	chr2:186855400-186856000	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr2:186855400-186857600	Weak transcription	Fetal Brain Male	brain
14	chr2:186855600-186856200	Enhancers	H1 Cell Line	embryonic stem cell
15	chr2:186855600-186856200	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr2:186855600-186856400	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr2:186855600-186856400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:186855600-186856400	Enhancers	Muscle Satellite Cultured Cells	--
19	chr2:186855600-186856400	Enhancers	HepG2	liver
20	chr2:186855800-186856400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr2:186855800-186856600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr2:186855800-186856600	Strong transcription	Duodenum Smooth Muscle	Duodenum
23	chr2:186856000-186856200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr2:186856000-186856400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr2:186856000-186856400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr2:186856200-186856800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
27	chr2:186856200-186857000	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr2:186856600-186867600	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr2:186856800-186868800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr2:186857600-186858000	Active TSS	Fetal Brain Male	brain

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