Variant report

Variant	nsv538533
Chromosome Location	chr6:165883001-165985711
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:165885688..165888087-chr6:165891217..165893154,3	K562	blood:
2	chr6:165885688..165888087-chr6:165891217..165893154,3	K562	blood:
3	chr6:165975312..165977408-chr6:165982582..165984633,2	MCF-7	breast:
4	chr6:165975312..165977408-chr6:165982582..165984633,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SDIM1-2	chr6:165957021-165957056	ENSG00000256956.2

Extended variants
information (count: 4208 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:4208 , 50 per page) page: 1 2 3 4 5 6 7 ... 85

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs180864234	chr6:165883041-165883042	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs376260077	chr6:165883050-165883051	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs374380057	chr6:165883067-165883068	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs371315658	chr6:165883119-165883120	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs62443770	chr6:165883134-165883135	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs532816002	chr6:165883138-165883139	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs554648073	chr6:165883177-165883178	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs925449	chr6:165883197-165883198	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs78565789	chr6:165883266-165883267	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs576318268	chr6:165883276-165883277	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs566534146	chr6:165883336-165883337	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs534122850	chr6:165883377-165883378	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs185521331	chr6:165883440-165883441	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567520231	chr6:165883455-165883456	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs36070300	chr6:165883459-165883460	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538254728	chr6:165883461-165883462	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs221735	chr6:165883486-165883487	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs376432392	chr6:165883516-165883517	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs189554143	chr6:165883531-165883532	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs138893766	chr6:165883534-165883535	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs572523714	chr6:165883545-165883546	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs529238118	chr6:165883563-165883564	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181534206	chr6:165883564-165883565	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576286999	chr6:165883598-165883599	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543807475	chr6:165883599-165883600	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556182365	chr6:165883611-165883612	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs115630517	chr6:165883631-165883632	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs544755834	chr6:165883757-165883758	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs186227640	chr6:165883758-165883759	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs547434034	chr6:165883768-165883769	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs527512462	chr6:165883774-165883775	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs190210998	chr6:165883782-165883783	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs369311590	chr6:165883823-165883824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567571799	chr6:165883831-165883832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs11968695	chr6:165883835-165883836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs221734	chr6:165883846-165883847	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs571651370	chr6:165883895-165883896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539161967	chr6:165883915-165883916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs553993009	chr6:165883950-165883951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552360271	chr6:165883989-165883990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560360072	chr6:165884033-165884034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536455072	chr6:165884038-165884039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570674038	chr6:165884040-165884041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs555097361	chr6:165884041-165884042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576374235	chr6:165884047-165884048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs375431792	chr6:165884058-165884059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs543693421	chr6:165884071-165884072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs149329713	chr6:165884090-165884091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577241750	chr6:165884092-165884093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs377504632	chr6:165884098-165884099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
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
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
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
Chordoma	18071362	CNVD
Glioblastoma multiforme	19435819	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	21138945	CNVD
abnormal development	18461090	CNVD
Epilepsy	22083797	CNVD
Myelofibrosis	22110671	CNVD
chordoma	19801981	CNVD
Myxofibrosarcoma	16751306	CNVD
Autism	17483303	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute myeloid leukemia	19651601	CNVD
Sudden cardiac death	19188705	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:447 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:165857400-165886200	Weak transcription	Left Ventricle	heart
2	chr6:165857400-165919400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:165877800-165896000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr6:165881400-165895400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:165881800-165883400	Enhancers	Hela-S3	cervix
6	chr6:165882000-165883400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr6:165882400-165899400	Weak transcription	HSMM	muscle
8	chr6:165883000-165883800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:165883000-165902200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr6:165883400-165883800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr6:165883400-165910400	Weak transcription	Hela-S3	cervix
12	chr6:165883600-165883800	Active TSS	Spleen	Spleen
13	chr6:165883800-165885000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr6:165883800-165890800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr6:165885000-165885200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr6:165885000-165885200	Enhancers	Gastric	stomach
17	chr6:165885200-165890200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr6:165885200-165901000	Weak transcription	Gastric	stomach
19	chr6:165886000-165886400	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr6:165886000-165886800	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr6:165886400-165891600	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr6:165890800-165891600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr6:165891200-165895400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr6:165891600-165892600	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr6:165891600-165892800	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr6:165891600-165894600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr6:165891800-165892000	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr6:165891800-165892000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr6:165891800-165892800	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr6:165891800-165892800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr6:165891800-165902000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr6:165892000-165892200	Enhancers	HSMMtube	muscle
33	chr6:165892000-165892800	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr6:165892000-165897800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr6:165892200-165892600	Enhancers	H1 Cell Line	embryonic stem cell
36	chr6:165892200-165902000	Weak transcription	HSMMtube	muscle
37	chr6:165892600-165892800	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr6:165892600-165892800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr6:165892800-165897600	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr6:165892800-165897600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr6:165892800-165897800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr6:165892800-165897800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr6:165893400-165899600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr6:165894200-165897800	Weak transcription	Spleen	Spleen
45	chr6:165894600-165895800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr6:165894600-165896600	Enhancers	Fetal Lung	lung
47	chr6:165895400-165895800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr6:165895400-165896600	Enhancers	Brain Anterior Caudate	brain
49	chr6:165895400-165896800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr6:165895800-165897800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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