Variant report

Variant	nsv1018182
Chromosome Location	chr6:119833609-119866803
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:36)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:36 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:119859295..119861022-chr6:119888141..119890185,2	K562	blood:
2	chr6:58777220..58778210-chr6:119855510..119856349,2	MCF-7	breast:
3	chr6:119834976..119836723-chr6:119847440..119850148,2	K562	blood:
4	chr6:119847994..119850529-chr6:119852799..119855892,3	K562	blood:
5	chr6:119830042..119832839-chr6:119833435..119836310,3	K562	blood:
6	chr6:119847994..119850529-chr6:119852799..119855892,3	K562	blood:
7	chr6:119669561..119671801-chr6:119862456..119866086,3	K562	blood:
8	chr6:119864609..119867399-chr6:119872671..119874449,2	K562	blood:
9	chr6:119847994..119850425-chr6:119853510..119855892,2	K562	blood:
10	chr6:119843554..119845445-chr6:119857020..119859893,3	K562	blood:
11	chr6:119821729..119823687-chr6:119833331..119835414,2	K562	blood:
12	chr6:119843554..119849464-chr6:119857020..119861311,6	K562	blood:
13	chr6:119857573..119859199-chr6:119859391..119862222,2	MCF-7	breast:
14	chr1:885039..887449-chr6:119865762..119867280,2	K562	blood:
15	chr6:119861440..119863163-chr6:119863418..119865512,2	K562	blood:
16	chr6:119669561..119671801-chr6:119863296..119866086,2	K562	blood:
17	chr6:27115305..27118047-chr6:119845480..119847111,2	K562	blood:
18	chr6:119843554..119849464-chr6:119857020..119861311,6	K562	blood:
19	chr6:119857573..119859199-chr6:119859391..119862222,2	MCF-7	breast:
20	chr6:119834976..119836723-chr6:119847440..119850148,2	K562	blood:
21	chr6:119840170..119840723-chr8:442816..443696,2	MCF-7	breast:
22	chr6:119846705..119849464-chr6:119858071..119861061,2	K562	blood:
23	chr6:119826693..119828704-chr6:119831138..119833641,2	K562	blood:
24	chr6:119853131..119855142-chr6:119858626..119860944,2	K562	blood:
25	chr6:119861440..119863163-chr6:119863418..119865512,2	K562	blood:
26	chr6:119849420..119852024-chr6:119886180..119888675,2	K562	blood:
27	chr6:119822678..119825294-chr6:119837894..119839723,2	MCF-7	breast:
28	chr6:119846705..119849464-chr6:119858071..119861061,2	K562	blood:
29	chr6:119843554..119845445-chr6:119857020..119859893,3	K562	blood:
30	chr6:119865503..119867117-chr6:119868492..119870588,2	K562	blood:
31	chr6:119853131..119855142-chr6:119858626..119860944,2	K562	blood:
32	chr6:119845567..119847113-chr6:119965948..119967870,2	K562	blood:
33	chr6:119847994..119850425-chr6:119853510..119855892,2	K562	blood:
34	chr6:119864688..119867522-chr6:119869088..119872597,3	K562	blood:
35	chr6:119841673..119843483-chr6:119844681..119847300,2	K562	blood:
36	chr6:119841673..119843483-chr6:119844681..119847300,2	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ASF1A-3	chr6:119855070-119855105	XLOC_005449
2	lnc-ASF1A-3	chr6:119855041-119855105	XLOC_005449
3	lnc-MAN1A1-1	chr6:119853468-119853925	NONHSAT114715
4	lnc-MAN1A1-2	chr6:119835287-119835320	ucscGeneNc_uc003pyn_1
5	lnc-MAN1A1-2	chr6:119854030-119854166	ucscGeneNc_uc003pyn_1

No data

Variant related genes	Relation type
ENSG00000265565	chromatin interactions
ENSG00000111885	chromatin interactions

Extended variants
information (count: 1148 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:1148 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4946423	chr6:119833609-119833610	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs551387145	chr6:119833626-119833627	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs189781513	chr6:119833752-119833753	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs141422787	chr6:119833837-119833838	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs181880323	chr6:119833902-119833903	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567705728	chr6:119833932-119833933	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs186950619	chr6:119833940-119833941	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs191972189	chr6:119833950-119833951	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs34011578	chr6:119833957-119833958	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs377234562	chr6:119834001-119834002	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568968427	chr6:119834003-119834004	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs145176281	chr6:119834017-119834018	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs557836639	chr6:119834123-119834124	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570712284	chr6:119834126-119834127	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528101517	chr6:119834175-119834176	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs138803072	chr6:119834184-119834185	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs34272075	chr6:119834190-119834191	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs554055603	chr6:119834211-119834212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs17081332	chr6:119834212-119834213	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs370550511	chr6:119834239-119834240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs542840119	chr6:119834256-119834257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs373674297	chr6:119834276-119834277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs149354667	chr6:119834294-119834295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs535226499	chr6:119834314-119834315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs181776659	chr6:119834359-119834360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs540939781	chr6:119834376-119834377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs17081335	chr6:119834409-119834410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558047191	chr6:119834476-119834477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs148114137	chr6:119834483-119834484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs367893037	chr6:119834505-119834506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs1909506	chr6:119834526-119834527	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs71559860	chr6:119834625-119834626	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs562668284	chr6:119834626-119834627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs1392092	chr6:119834630-119834631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112809217	chr6:119834632-119834633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568859497	chr6:119834642-119834643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537982345	chr6:119834690-119834691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368843739	chr6:119834697-119834698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs1392091	chr6:119834701-119834702	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs529382013	chr6:119834712-119834713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs141235723	chr6:119834733-119834734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533784344	chr6:119834751-119834752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553765093	chr6:119834805-119834806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12212187	chr6:119834816-119834817	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs555366757	chr6:119834817-119834818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369109007	chr6:119834841-119834842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs147404440	chr6:119834850-119834851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575841609	chr6:119834859-119834860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200110232	chr6:119834878-119834879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs545052861	chr6:119834904-119834905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:111)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:200 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119825800-119850200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr6:119831400-119834400	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr6:119833400-119834200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:119833600-119834000	Enhancers	H1 Cell Line	embryonic stem cell
5	chr6:119833600-119834200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr6:119833800-119834000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr6:119833800-119834200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr6:119833800-119834200	Enhancers	H9 Cell Line	embryonic stem cell
9	chr6:119833800-119834200	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr6:119834200-119835400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr6:119834200-119838200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr6:119834200-119842400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr6:119834400-119835000	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr6:119835400-119836000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr6:119838200-119839400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr6:119838400-119839600	Enhancers	Dnd41	blood
17	chr6:119838600-119839200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr6:119839200-119844600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr6:119839400-119848800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr6:119839600-119844200	Weak transcription	Dnd41	blood
21	chr6:119840200-119841800	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr6:119841600-119841800	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr6:119841800-119842000	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr6:119842000-119842800	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr6:119842400-119842600	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr6:119842400-119842800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr6:119842600-119843000	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr6:119842800-119843200	Enhancers	Pancreatic Islets	Pancreatic Islet
29	chr6:119842800-119847400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr6:119843200-119844600	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr6:119844200-119845800	Enhancers	Dnd41	blood
32	chr6:119844600-119845600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr6:119844600-119845800	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr6:119844800-119845400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr6:119845800-119847800	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr6:119847000-119849000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr6:119847400-119849200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr6:119847400-119849200	Enhancers	Rectal Smooth Muscle	rectum
39	chr6:119847800-119848200	Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr6:119847800-119849600	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr6:119847800-119849800	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr6:119848000-119848600	Enhancers	Fetal Heart	heart
43	chr6:119848000-119849200	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr6:119848000-119849400	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr6:119848000-119849600	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr6:119848000-119849600	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr6:119848200-119848600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
48	chr6:119848200-119848600	Enhancers	Colon Smooth Muscle	Colon
49	chr6:119848200-119848600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr6:119848200-119848800	Enhancers	iPS-20b Cell Line	embryonic stem cell

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