Variant report

Variant	nsv821651
Chromosome Location	chr6:120635010-120830963
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:19)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:120637651..120640363-chr6:120645776..120648161,2	K562	blood:
2	chr6:120699482..120700334-chr6:121626863..121627717,3	MCF-7	breast:
3	chr6:120398336..120399006-chr6:120699718..120700358,2	MCF-7	breast:
4	chr6:120727203..120727781-chr6:121331449..121332021,2	MCF-7	breast:
5	chr6:120727129..120727677-chr6:121147123..121147638,2	MCF-7	breast:
6	chr6:120689936..120692907-chr6:120697509..120699077,2	K562	blood:
7	chr6:120707024..120708660-chr6:120718622..120720197,2	MCF-7	breast:
8	chr6:120063490..120064041-chr6:120699487..120700386,2	MCF-7	breast:
9	chr6:120689936..120692907-chr6:120697509..120699077,2	K562	blood:
10	chr6:120707024..120708660-chr6:120718622..120720197,2	MCF-7	breast:
11	chr6:120550876..120551654-chr6:120699476..120700307,2	MCF-7	breast:
12	chr6:120822631..120824967-chr6:120825069..120827179,2	MCF-7	breast:
13	chr6:120822631..120824967-chr6:120825069..120827179,2	MCF-7	breast:
14	chr6:120699511..120700307-chr6:121085174..121086152,2	MCF-7	breast:
15	chr6:120699475..120700058-chr6:121147497..121148100,2	MCF-7	breast:
16	chr6:120727187..120727711-chr6:121085206..121086111,2	MCF-7	breast:
17	chr16:33618975..33619481-chr6:120699536..120700074,2	MCF-7	breast:
18	chr6:120637651..120640363-chr6:120645776..120648161,2	K562	blood:
19	chr6:120300752..120301282-chr6:120699843..120700377,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C6orf170-5	chr6:120665876-120666017	FPKM1_group_28318_transcript_1
2	lnc-C6orf170-5	chr6:120677989-120678113	FPKM1_group_28318_transcript_1

No data

Extended variants
information (count: 1080 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:1080 , 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	rs11966775	chr6:120651831-120651832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs1478811	chr6:120651842-120651843	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs555555238	chr6:120651875-120651876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs190880646	chr6:120651953-120651954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs145526795	chr6:120651978-120651979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs558133595	chr6:120652029-120652030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs148977494	chr6:120652056-120652057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs540189250	chr6:120652066-120652067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs12205890	chr6:120652090-120652091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs9385129	chr6:120652098-120652099	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs147745300	chr6:120652110-120652111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs562731730	chr6:120652138-120652139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs142642111	chr6:120652157-120652158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs553926524	chr6:120664829-120664830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs573943436	chr6:120664845-120664846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs543297459	chr6:120664848-120664849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs116469034	chr6:120664869-120664870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs532037366	chr6:120664909-120664910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs184583732	chr6:120664918-120664919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs76726506	chr6:120664953-120664954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs188819460	chr6:120664962-120664963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs192139423	chr6:120665070-120665071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs566664935	chr6:120665138-120665139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs529142451	chr6:120665140-120665141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs1027004	chr6:120665150-120665151	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs569009573	chr6:120665153-120665154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs538162631	chr6:120665167-120665168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs557454076	chr6:120665177-120665178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs148976827	chr6:120665232-120665233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs111315177	chr6:120665251-120665252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs374819156	chr6:120665270-120665271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs368724961	chr6:120665271-120665272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs570939399	chr6:120665274-120665275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs533638506	chr6:120665319-120665320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs545316488	chr6:120665363-120665364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs573414804	chr6:120665365-120665366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs185020015	chr6:120665380-120665381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs556740268	chr6:120665451-120665452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs74601887	chr6:120665483-120665484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs534755216	chr6:120665494-120665495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs565203307	chr6:120665509-120665510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs376736278	chr6:120665530-120665531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs545716348	chr6:120665576-120665577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs3013703	chr6:120665578-120665579	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs527731475	chr6:120665581-120665582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs137931803	chr6:120665635-120665636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs561326116	chr6:120665637-120665638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs530213659	chr6:120665639-120665640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs548875876	chr6:120665656-120665657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs562716922	chr6:120665700-120665701	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:114)

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	18451855	CNVD

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:120651800-120652000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:120651800-120652200	Enhancers	HepG2	liver
3	chr6:120664800-120666600	Enhancers	Fetal Heart	heart
4	chr6:120668000-120668200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
5	chr6:120668200-120668400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
6	chr6:120668200-120668400	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
7	chr6:120670000-120670400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:120670000-120670400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr6:120670000-120670600	Enhancers	NHDF-Ad	bronchial
10	chr6:120670600-120675800	Weak transcription	NHDF-Ad	bronchial
11	chr6:120672200-120674200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr6:120673200-120673400	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr6:120673400-120674000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr6:120673400-120675000	Enhancers	H1 Cell Line	embryonic stem cell
15	chr6:120674000-120674600	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr6:120674000-120674600	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr6:120674200-120674400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr6:120674200-120674600	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr6:120674200-120674600	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr6:120674200-120674800	Enhancers	H9 Cell Line	embryonic stem cell
21	chr6:120674200-120677400	Enhancers	HMEC	breast
22	chr6:120674400-120675400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr6:120674600-120675600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr6:120674600-120676000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr6:120675000-120675600	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr6:120675000-120676400	Enhancers	NHEK	skin
27	chr6:120675200-120676200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr6:120675400-120675800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr6:120675400-120676400	Enhancers	Muscle Satellite Cultured Cells	--
30	chr6:120675400-120676400	Enhancers	Dnd41	blood
31	chr6:120675400-120679000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr6:120675600-120675800	Enhancers	H1 Cell Line	embryonic stem cell
33	chr6:120675600-120676000	Enhancers	Primary B cells from peripheral blood	blood
34	chr6:120675600-120676200	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr6:120675600-120676200	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr6:120675800-120677200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr6:120675800-120678000	Enhancers	NHDF-Ad	bronchial
38	chr6:120677200-120677600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr6:120677600-120677800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr6:120677600-120677800	Enhancers	Right Atrium	heart
41	chr6:120677600-120679200	Enhancers	Fetal Heart	heart
42	chr6:120677800-120678800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr6:120678400-120678600	Enhancers	Right Atrium	heart
44	chr6:120678800-120679000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr6:120679000-120680200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr6:120680200-120680400	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr6:120684200-120685000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr6:120684200-120685000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr6:120684400-120685000	Enhancers	H1 Cell Line	embryonic stem cell
50	chr6:120684400-120685000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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