Variant report

Variant	nsv886583
Chromosome Location	chr6:120670149-120763235
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:120727129..120727677-chr6:121147123..121147638,2	MCF-7	breast:
2	chr16:33618975..33619481-chr6:120699536..120700074,2	MCF-7	breast:
3	chr6:120699475..120700058-chr6:121147497..121148100,2	MCF-7	breast:
4	chr6:120699511..120700307-chr6:121085174..121086152,2	MCF-7	breast:
5	chr6:120550876..120551654-chr6:120699476..120700307,2	MCF-7	breast:
6	chr6:120727187..120727711-chr6:121085206..121086111,2	MCF-7	breast:
7	chr6:120300752..120301282-chr6:120699843..120700377,2	MCF-7	breast:
8	chr6:120689936..120692907-chr6:120697509..120699077,2	K562	blood:
9	chr6:120727203..120727781-chr6:121331449..121332021,2	MCF-7	breast:
10	chr6:120689936..120692907-chr6:120697509..120699077,2	K562	blood:
11	chr6:120707024..120708660-chr6:120718622..120720197,2	MCF-7	breast:
12	chr6:120063490..120064041-chr6:120699487..120700386,2	MCF-7	breast:
13	chr6:120707024..120708660-chr6:120718622..120720197,2	MCF-7	breast:
14	chr6:120699482..120700334-chr6:121626863..121627717,3	MCF-7	breast:
15	chr6:120398336..120399006-chr6:120699718..120700358,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C6orf170-5	chr6:120677989-120678113	FPKM1_group_28318_transcript_1

No data

Extended variants
information (count: 647 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:647 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1318688	chr6:120670149-120670150	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs148069936	chr6:120670166-120670167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs529310969	chr6:120670286-120670287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs549362426	chr6:120670310-120670311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs201251867	chr6:120670315-120670316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs569225570	chr6:120670326-120670327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557916846	chr6:120670333-120670334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs550780673	chr6:120670385-120670386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs141956260	chr6:120670408-120670409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs539744374	chr6:120670453-120670454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs145769354	chr6:120670454-120670455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs566770163	chr6:120670498-120670499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs189630782	chr6:120670504-120670505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs555360840	chr6:120670512-120670513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs73525026	chr6:120670516-120670517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs543936088	chr6:120670624-120670625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564542956	chr6:120670627-120670628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs71015065	chr6:120670628-120670629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535723677	chr6:120670643-120670644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs557908854	chr6:120670663-120670664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs1843598	chr6:120670698-120670699	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs142758424	chr6:120670844-120670845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372293512	chr6:120670849-120670850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192312644	chr6:120670926-120670927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs78199664	chr6:120670927-120670928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562936362	chr6:120670932-120670933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs1486211	chr6:120670971-120670972	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs551954137	chr6:120671171-120671172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570653856	chr6:120671176-120671177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112934667	chr6:120671183-120671184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs138259473	chr6:120671260-120671261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577055032	chr6:120671286-120671287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs34629917	chr6:120671336-120671337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546817606	chr6:120671357-120671358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs149623290	chr6:120671395-120671396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185005689	chr6:120671400-120671401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555045175	chr6:120671411-120671412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568862903	chr6:120671445-120671446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs537544170	chr6:120671483-120671484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs550580013	chr6:120671542-120671543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573937677	chr6:120671570-120671571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs144384487	chr6:120671582-120671583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs530002202	chr6:120671597-120671598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188597640	chr6:120671602-120671603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs546698704	chr6:120671610-120671611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs534099221	chr6:120671612-120671613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs72962675	chr6:120671630-120671631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574237577	chr6:120671634-120671635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs543334516	chr6:120671641-120671642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs148810174	chr6:120671648-120671649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:113)

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

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:120670000-120670400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:120670000-120670400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr6:120670000-120670600	Enhancers	NHDF-Ad	bronchial
4	chr6:120670600-120675800	Weak transcription	NHDF-Ad	bronchial
5	chr6:120672200-120674200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr6:120673200-120673400	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr6:120673400-120674000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr6:120673400-120675000	Enhancers	H1 Cell Line	embryonic stem cell
9	chr6:120674000-120674600	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr6:120674000-120674600	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr6:120674200-120674400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr6:120674200-120674600	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr6:120674200-120674600	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr6:120674200-120674800	Enhancers	H9 Cell Line	embryonic stem cell
15	chr6:120674200-120677400	Enhancers	HMEC	breast
16	chr6:120674400-120675400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr6:120674600-120675600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr6:120674600-120676000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr6:120675000-120675600	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr6:120675000-120676400	Enhancers	NHEK	skin
21	chr6:120675200-120676200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr6:120675400-120675800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr6:120675400-120676400	Enhancers	Muscle Satellite Cultured Cells	--
24	chr6:120675400-120676400	Enhancers	Dnd41	blood
25	chr6:120675400-120679000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr6:120675600-120675800	Enhancers	H1 Cell Line	embryonic stem cell
27	chr6:120675600-120676000	Enhancers	Primary B cells from peripheral blood	blood
28	chr6:120675600-120676200	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr6:120675600-120676200	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr6:120675800-120677200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr6:120675800-120678000	Enhancers	NHDF-Ad	bronchial
32	chr6:120677200-120677600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr6:120677600-120677800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr6:120677600-120677800	Enhancers	Right Atrium	heart
35	chr6:120677600-120679200	Enhancers	Fetal Heart	heart
36	chr6:120677800-120678800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr6:120678400-120678600	Enhancers	Right Atrium	heart
38	chr6:120678800-120679000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr6:120679000-120680200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr6:120680200-120680400	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr6:120684200-120685000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr6:120684200-120685000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr6:120684400-120685000	Enhancers	H1 Cell Line	embryonic stem cell
44	chr6:120684400-120685000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr6:120684400-120685000	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr6:120684600-120685000	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr6:120684600-120685200	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr6:120684800-120685200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr6:120684800-120685200	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr6:120697000-120697400	Enhancers	H9 Cell Line	embryonic stem cell

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