Variant report

Variant	esv3442213
Chromosome Location	chr6:119311747-119316306
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	chr6:119314602..119316807-chr6:119322501..119324038,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MCM9-1	chr6:119312344-119312956	NONHSAT114703

Extended variants
information (count: 150 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:150 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150695966	chr6:119311753-119311754	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs71746749	chr6:119311754-119311755	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs368115547	chr6:119311755-119311756	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531072318	chr6:119311787-119311788	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs145278354	chr6:119311829-119311830	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528108745	chr6:119311851-119311852	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs9489573	chr6:119311866-119311867	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568230256	chr6:119311886-119311887	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550852855	chr6:119311903-119311904	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548187396	chr6:119311949-119311950	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568034694	chr6:119311958-119311959	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537160958	chr6:119311980-119311981	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540937495	chr6:119312029-119312030	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs73523343	chr6:119312089-119312090	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs185411139	chr6:119312108-119312109	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567848810	chr6:119312121-119312122	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189436922	chr6:119312272-119312273	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs369478807	chr6:119312288-119312289	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555366254	chr6:119312308-119312309	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575194595	chr6:119312312-119312313	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573980184	chr6:119312319-119312320	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs180966211	chr6:119312324-119312325	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs527696839	chr6:119312328-119312329	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs578144979	chr6:119312368-119312369	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs137876316	chr6:119312385-119312386	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs71559845	chr6:119312390-119312391	Strong transcription Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs375674881	chr6:119312435-119312436	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs529605106	chr6:119312491-119312492	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs549668527	chr6:119312546-119312547	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs141809390	chr6:119312591-119312592	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs150588215	chr6:119312606-119312607	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs567206157	chr6:119312609-119312610	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs138620448	chr6:119312610-119312611	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs374236310	chr6:119312624-119312625	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs78050237	chr6:119312649-119312650	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs534598107	chr6:119312657-119312658	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs567069805	chr6:119312665-119312666	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs183717471	chr6:119312736-119312737	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs188727383	chr6:119312774-119312775	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs528237801	chr6:119312823-119312824	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs181164554	chr6:119312839-119312840	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs546879062	chr6:119312860-119312861	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs114129689	chr6:119312864-119312865	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs568226204	chr6:119312868-119312869	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs6937499	chr6:119312876-119312877	Strong transcription Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs61476918	chr6:119312944-119312945	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs368240362	chr6:119312945-119312946	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs557998706	chr6:119312967-119312968	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371731263	chr6:119313001-119313002	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372484666	chr6:119313014-119313015	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:110)

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

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119285800-119340000	Weak transcription	Fetal Brain Male	brain
2	chr6:119287200-119326600	Weak transcription	Fetal Brain Female	brain
3	chr6:119287400-119330000	Weak transcription	Fetal Muscle Leg	muscle
4	chr6:119288800-119315000	Weak transcription	Fetal Intestine Large	intestine
5	chr6:119292400-119344000	Weak transcription	Brain Germinal Matrix	brain
6	chr6:119293200-119345400	Weak transcription	Lung	lung
7	chr6:119294200-119330800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr6:119296800-119314600	Weak transcription	Stomach Smooth Muscle	stomach
9	chr6:119299600-119314600	Weak transcription	Fetal Intestine Small	intestine
10	chr6:119300600-119344000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr6:119300800-119319600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr6:119300800-119342600	Weak transcription	Brain Anterior Caudate	brain
13	chr6:119301000-119321800	Weak transcription	Placenta	Placenta
14	chr6:119301400-119313200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr6:119301400-119319200	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr6:119302200-119313400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr6:119311400-119314600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr6:119311400-119315800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr6:119313000-119329800	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr6:119313200-119314200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr6:119313400-119314200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr6:119314200-119318600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr6:119314200-119318800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr6:119314400-119315400	Enhancers	HepG2	liver
25	chr6:119314400-119364400	Weak transcription	Fetal Muscle Trunk	muscle
26	chr6:119314600-119315000	Weak transcription	Pancreas	Pancrea
27	chr6:119314600-119315200	Enhancers	Liver	Liver
28	chr6:119314600-119315400	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr6:119314600-119315400	Enhancers	Fetal Intestine Small	intestine
30	chr6:119315000-119315200	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr6:119315000-119315200	Enhancers	Pancreas	Pancrea
32	chr6:119315000-119315400	Enhancers	Fetal Intestine Large	intestine
33	chr6:119315000-119315400	Enhancers	Gastric	stomach
34	chr6:119315200-119315400	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr6:119315200-119325200	Weak transcription	Pancreas	Pancrea
36	chr6:119315400-119319400	Weak transcription	Fetal Intestine Small	intestine
37	chr6:119315400-119319600	Weak transcription	Fetal Intestine Large	intestine
38	chr6:119315400-119320800	Weak transcription	HepG2	liver
39	chr6:119315400-119329800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr6:119315400-119330800	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr6:119315800-119316600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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