Variant report

Variant	nsv886579
Chromosome Location	chr6:120577152-120669986
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:164212016..164212593-chr6:120624651..120625343,2	MCF-7	breast:
2	chr6:120637651..120640363-chr6:120645776..120648161,2	K562	blood:
3	chr6:120637651..120640363-chr6:120645776..120648161,2	K562	blood:
4	chr17:57913954..57915888-chr6:120581005..120582642,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C6orf170-5	chr6:120665876-120666017	FPKM1_group_28318_transcript_1

Variant related genes	Relation type
ENSG00000062716	chromatin interactions

Extended variants
information (count: 1075 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:1075 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12527290	chr6:120577152-120577153	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs528679515	chr6:120577256-120577257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs76637055	chr6:120577263-120577264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs13193006	chr6:120577279-120577280	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs531041482	chr6:120577280-120577281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs115581154	chr6:120577322-120577323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs140265323	chr6:120577377-120577378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539763012	chr6:120577421-120577422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575561091	chr6:120577428-120577429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545821511	chr6:120577447-120577448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs185041254	chr6:120577498-120577499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557750668	chr6:120577514-120577515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566863994	chr6:120577588-120577589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535576830	chr6:120577589-120577590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs116714881	chr6:120577592-120577593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574669277	chr6:120577624-120577625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs369689705	chr6:120577637-120577638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189552490	chr6:120577752-120577753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs36028131	chr6:120577757-120577758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572998420	chr6:120577761-120577762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs193180516	chr6:120577781-120577782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs79896002	chr6:120577865-120577866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs577167824	chr6:120577924-120577925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs373696277	chr6:120578024-120578025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537704950	chr6:120578099-120578100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184461636	chr6:120578101-120578102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs546121612	chr6:120578122-120578123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs557613280	chr6:120578130-120578131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572835022	chr6:120578131-120578132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs369660859	chr6:120578140-120578141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs35851202	chr6:120578141-120578142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541542507	chr6:120578144-120578145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188924680	chr6:120578200-120578201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs9489918	chr6:120578216-120578217	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs371054987	chr6:120578218-120578219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550730647	chr6:120578275-120578276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569600616	chr6:120578303-120578304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564352229	chr6:120578311-120578312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs145361299	chr6:120578344-120578345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547318552	chr6:120578345-120578346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375042423	chr6:120578353-120578354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181996840	chr6:120578359-120578360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535877484	chr6:120578370-120578371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs78212727	chr6:120578376-120578377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544936441	chr6:120578397-120578398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs569339562	chr6:120578418-120578419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs538350841	chr6:120578455-120578456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186295427	chr6:120578476-120578477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113291759	chr6:120578487-120578488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539341535	chr6:120578495-120578496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:115)

Disease	PMID	Source
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
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
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	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	16272173	CNVD
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Mental retardation	17621639	CNVD
Hypoplastic	20877625	CNVD
Hypotonia	20877625	CNVD
Mental retardation	20877625	CNVD
Microcephaly	20877625	CNVD
brachycephaly	20877625	CNVD
epicanthic folds	20877625	CNVD
micrognathia	20877625	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Metastatic melanoma	18483359	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	18698023	CNVD
Mental retardation	18854857	CNVD
Leukemia	18688285	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Liver carcinoma	19366792	CNVD
Breast cancer	21611746	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:120576000-120579400	Weak transcription	Fetal Lung	lung
2	chr6:120579200-120579800	Enhancers	Fetal Brain Male	brain
3	chr6:120579400-120579600	Enhancers	Fetal Lung	lung
4	chr6:120579600-120580000	Weak transcription	Fetal Lung	lung
5	chr6:120580000-120580800	Enhancers	Fetal Lung	lung
6	chr6:120583400-120583600	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
7	chr6:120594400-120596000	Enhancers	Fetal Lung	lung
8	chr6:120595200-120596400	Enhancers	Primary B cells from cord blood	blood
9	chr6:120595200-120596400	Enhancers	Primary B cells from peripheral blood	blood
10	chr6:120596000-120599200	Weak transcription	Fetal Lung	lung
11	chr6:120598000-120598400	Enhancers	Fetal Brain Female	brain
12	chr6:120598200-120600400	Enhancers	Fetal Brain Male	brain
13	chr6:120598400-120600000	Weak transcription	Fetal Brain Female	brain
14	chr6:120599000-120599200	Enhancers	Fetal Heart	heart
15	chr6:120599200-120600000	Enhancers	Fetal Lung	lung
16	chr6:120599200-120600200	Weak transcription	Fetal Heart	heart
17	chr6:120599600-120600000	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr6:120599800-120600200	Enhancers	Fetal Muscle Leg	muscle
19	chr6:120599800-120600400	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr6:120600000-120600400	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr6:120600000-120600800	Weak transcription	Fetal Lung	lung
22	chr6:120600000-120601400	Enhancers	Fetal Brain Female	brain
23	chr6:120600200-120600600	Weak transcription	Fetal Muscle Leg	muscle
24	chr6:120600200-120601400	Enhancers	Fetal Heart	heart
25	chr6:120600400-120600800	Weak transcription	Fetal Brain Male	brain
26	chr6:120600600-120601200	Enhancers	Fetal Muscle Leg	muscle
27	chr6:120600800-120601200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr6:120600800-120601200	Enhancers	Fetal Lung	lung
29	chr6:120600800-120601400	Enhancers	Fetal Brain Male	brain
30	chr6:120617600-120619200	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr6:120617800-120618800	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr6:120618000-120618200	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr6:120618000-120619000	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr6:120618200-120618600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr6:120618200-120618600	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr6:120618400-120619200	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr6:120618400-120619600	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr6:120618600-120619000	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr6:120620800-120631600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr6:120628200-120628600	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr6:120628200-120628600	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr6:120651800-120652000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr6:120651800-120652200	Enhancers	HepG2	liver
44	chr6:120664800-120666600	Enhancers	Fetal Heart	heart
45	chr6:120668000-120668200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr6:120668200-120668400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
47	chr6:120668200-120668400	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast

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