Variant report

Variant	nsv605234
Chromosome Location	chr6:165054409-165130872
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:10)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:165085847..165087840-chr6:165089357..165091527,2	K562	blood:
2	chr6:165110029..165112755-chr6:165114733..165117071,2	K562	blood:
3	chr6:165117997..165120289-chr6:165120644..165122440,2	K562	blood:
4	chr6:165082238..165084641-chr6:165089609..165091881,2	K562	blood:
5	chr6:165117997..165120289-chr6:165120644..165122440,2	K562	blood:
6	chr6:165085847..165087840-chr6:165089357..165091527,2	K562	blood:
7	chr6:165050032..165051589-chr6:165053797..165056474,2	K562	blood:
8	chr6:165110029..165112755-chr6:165114733..165117071,2	K562	blood:
9	chr6:165119728..165120228-chrX:107366674..107367661,2	MCF-7	breast:
10	chr6:165082238..165084641-chr6:165089609..165091881,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C6orf118-5	chr6:165126854-165127631	ucscGeneNc_uc003qul_1

No data

Extended variants
information (count: 800 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:800 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372147661	chr6:165061402-165061403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs9459170	chr6:165061435-165061436	Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
3	rs572231753	chr6:165061462-165061463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs183100218	chr6:165061498-165061499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs557471868	chr6:165061545-165061546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs151047538	chr6:165061556-165061557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs79383421	chr6:165061557-165061558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs562919216	chr6:165061563-165061564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs576682006	chr6:165061608-165061609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs187710227	chr6:165061631-165061632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs536505531	chr6:165061711-165061712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs562224734	chr6:165061728-165061729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs527924303	chr6:165061752-165061753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs372479679	chr6:165061836-165061837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs140373533	chr6:165061896-165061897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs66744297	chr6:165061925-165061926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs533434066	chr6:165061931-165061932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs550213969	chr6:165061940-165061941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs570066485	chr6:165061969-165061970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs191437121	chr6:165062004-165062005	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs549305006	chr6:165062035-165062036	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs145566502	chr6:165062058-165062059	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs114081573	chr6:165062088-165062089	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs557483950	chr6:165062095-165062096	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs577342759	chr6:165062097-165062098	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs536717117	chr6:165062192-165062193	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs556624938	chr6:165062221-165062222	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs573612592	chr6:165062235-165062236	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs571098337	chr6:165062252-165062253	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs562413586	chr6:165062336-165062337	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs538172847	chr6:165062351-165062352	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs386708273	chr6:165062423-165062424	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs9356236	chr6:165062425-165062426	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs564634766	chr6:165062478-165062479	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs534967204	chr6:165062531-165062532	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs9347886	chr6:165062533-165062534	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs550325776	chr6:165062614-165062615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs563626761	chr6:165062626-165062627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs554698506	chr6:165062636-165062637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs565967815	chr6:165062656-165062657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs534577487	chr6:165062695-165062696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs377417183	chr6:165062697-165062698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs150588880	chr6:165062708-165062709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs551180679	chr6:165062716-165062717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs199641591	chr6:165062717-165062718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs371284291	chr6:165062722-165062723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs537190421	chr6:165062727-165062728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs13194479	chr6:165062729-165062730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs201644056	chr6:165062732-165062733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs4469270	chr6:165062733-165062734	Enhancers	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
Ovarian cancer	22355333	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
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:147 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:165061400-165063000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr6:165061800-165062000	Enhancers	Brain Hippocampus Middle	brain
3	chr6:165061800-165062400	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr6:165061800-165062400	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr6:165061800-165062400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr6:165061800-165062600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:165062000-165062200	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr6:165062000-165062200	Enhancers	Brain Substantia Nigra	brain
9	chr6:165062000-165062400	Enhancers	H9 Cell Line	embryonic stem cell
10	chr6:165062000-165062400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr6:165062000-165062400	Enhancers	Adipose Nuclei	Adipose
12	chr6:165062000-165062400	Enhancers	Brain Angular Gyrus	brain
13	chr6:165062000-165062400	Active TSS	Brain Anterior Caudate	brain
14	chr6:165062000-165062400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr6:165062000-165062600	Enhancers	H1 Cell Line	embryonic stem cell
16	chr6:165062000-165062600	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr6:165062000-165062600	Enhancers	Brain Germinal Matrix	brain
18	chr6:165062000-165062600	Flanking Active TSS	Brain Hippocampus Middle	brain
19	chr6:165062200-165062400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
20	chr6:165062400-165062600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr6:165066000-165066400	Enhancers	Aorta	Aorta
22	chr6:165072400-165073000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr6:165080400-165081000	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr6:165080600-165081200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:165081800-165083000	Enhancers	Fetal Brain Male	brain
26	chr6:165083000-165083400	Weak transcription	Fetal Brain Male	brain
27	chr6:165083400-165083800	Enhancers	Fetal Brain Male	brain
28	chr6:165101200-165101600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr6:165101200-165101600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr6:165101600-165102400	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr6:165101600-165103000	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr6:165108400-165108600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr6:165108600-165113800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr6:165111200-165111400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr6:165111200-165111600	Enhancers	Brain Cingulate Gyrus	brain
36	chr6:165111200-165111800	Enhancers	Brain Germinal Matrix	brain
37	chr6:165111200-165111800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr6:165111200-165112200	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr6:165111200-165112600	Enhancers	Brain Anterior Caudate	brain
40	chr6:165111200-165112600	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr6:165111200-165112800	Enhancers	Brain Substantia Nigra	brain
42	chr6:165111200-165113400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr6:165111200-165117600	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr6:165111400-165111800	Enhancers	Brain Hippocampus Middle	brain
45	chr6:165111400-165112200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr6:165111400-165112200	Enhancers	Brain Angular Gyrus	brain
47	chr6:165111400-165115000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr6:165111600-165112200	Flanking Active TSS	Brain Cingulate Gyrus	brain
49	chr6:165111600-165112200	Enhancers	Fetal Brain Male	brain
50	chr6:165111600-165112200	Enhancers	Fetal Brain Female	brain

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