Variant report

Variant	nsv1021518
Chromosome Location	chr6:62927880-62974776
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	chr6:62973850..62974714-chr7:113350282..113350966,2	MCF-7	breast:

Extended variants
information (count: 1409 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:1409 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182884232	chr6:62927894-62927895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs147322229	chr6:62927903-62927904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs74997112	chr6:62927927-62927928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs140989292	chr6:62927928-62927929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572633929	chr6:62927978-62927979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs544107862	chr6:62927979-62927980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs517128	chr6:62928000-62928001	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs533006234	chr6:62928038-62928039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554393294	chr6:62928053-62928054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373361671	chr6:62928097-62928098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs78981881	chr6:62928106-62928107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs144642081	chr6:62928135-62928136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533841308	chr6:62928140-62928141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs187559005	chr6:62928175-62928176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs147445355	chr6:62928218-62928219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568158892	chr6:62928219-62928220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564280197	chr6:62928257-62928258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs139311956	chr6:62928289-62928290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191306819	chr6:62928298-62928299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs557204406	chr6:62928330-62928331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376294436	chr6:62928339-62928340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs539515236	chr6:62928449-62928450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561999398	chr6:62928450-62928451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558339949	chr6:62928467-62928468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs150007252	chr6:62928543-62928544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547765306	chr6:62928613-62928614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs145036531	chr6:62928646-62928647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs559525554	chr6:62928717-62928718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562358152	chr6:62928762-62928763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs149079794	chr6:62928864-62928865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368928777	chr6:62928872-62928873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562314442	chr6:62928883-62928884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577461078	chr6:62928914-62928915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183111130	chr6:62928915-62928916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs9346260	chr6:62928918-62928919	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs559965922	chr6:62928959-62928960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs527476133	chr6:62928974-62928975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs548903242	chr6:62929030-62929031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567202016	chr6:62929042-62929043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs550126	chr6:62929275-62929276	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs555993402	chr6:62929277-62929278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs377151762	chr6:62929318-62929319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs16882289	chr6:62929323-62929324	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs551124	chr6:62929408-62929409	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs114766336	chr6:62929441-62929442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs537234527	chr6:62929479-62929480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs374533684	chr6:62929563-62929564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187795606	chr6:62929587-62929588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs192472511	chr6:62929589-62929590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs530301728	chr6:62932612-62932613	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	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
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Lung cancer	19547694	CNVD
Myelofibrosis	22110671	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD
Tetralogy of Fallot	22912587	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Pancreatic cancer	17952125	CNVD
Autism	19492091	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:62921600-62929600	Weak transcription	Primary B cells from cord blood	blood
2	chr6:62932600-62933400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr6:62933400-62933800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr6:62937200-62939200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr6:62938800-62939200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr6:62938800-62939800	ZNF genes & repeats	Fetal Intestine Small	intestine
7	chr6:62939000-62939200	Enhancers	Gastric	stomach
8	chr6:62939000-62939400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr6:62939200-62939600	Strong transcription	H1 Cell Line	embryonic stem cell
10	chr6:62939200-62939600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:62939200-62939600	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr6:62939600-62939800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
13	chr6:62939600-62941000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr6:62939800-62940200	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr6:62943000-62944000	ZNF genes & repeats	Primary B cells from cord blood	blood
16	chr6:62944000-62988200	Weak transcription	Primary B cells from cord blood	blood
17	chr6:62949200-62949800	ZNF genes & repeats	Fetal Intestine Small	intestine
18	chr6:62949800-62950400	Weak transcription	Fetal Intestine Small	intestine
19	chr6:62952200-62953000	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr6:62957400-62957600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr6:62957400-62957800	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr6:62957400-62958000	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr6:62958000-62958400	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr6:62958000-62959400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr6:62958400-62959800	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr6:62958600-62960200	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr6:62958600-62960800	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr6:62959000-62960200	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr6:62959400-62960400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr6:62960800-62961200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr6:62961200-62961600	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr6:62964200-62964800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr6:62969800-62970200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr6:62970400-62970800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr6:62974200-62974600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr6:62974600-62975000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr6:62974600-62975000	Enhancers	HUES64 Cell Line	embryonic stem cell

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