Variant report

Variant	nsv886814
Chromosome Location	chr6:160970963-161081331
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:9)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:160939489..160941375-chr6:160998330..161000013,2	K562	blood:
2	chr6:161004456..161005962-chr6:161009319..161011113,2	K562	blood:
3	chr6:161022530..161025379-chr6:161026133..161029753,3	K562	blood:
4	chr6:160940997..160941666-chr6:160999443..161000039,2	K562	blood:
5	chr6:161022530..161025379-chr6:161026133..161029753,3	K562	blood:
6	chr6:161080728..161083245-chr6:161087740..161089889,2	MCF-7	breast:
7	chr6:161019352..161022051-chr6:161023813..161026327,2	K562	blood:
8	chr6:161004456..161005962-chr6:161009319..161011113,2	K562	blood:
9	chr6:161019352..161022051-chr6:161023813..161026327,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PLG-2	chr6:161039310-161039522	NONHSAT115908
2	lnc-PLG-2	chr6:161041576-161041654	NONHSAT115908

No data

Extended variants
information (count: 4032 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:4032 , 50 per page) page: 1 2 3 4 5 6 7 ... 81

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7761293	chr6:160970963-160970964	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs551950165	chr6:160971000-160971001	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs144937700	chr6:160971041-160971042	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185319217	chr6:160971047-160971048	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550001855	chr6:160971050-160971051	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569935602	chr6:160971051-160971052	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs535398713	chr6:160971054-160971055	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs190072640	chr6:160971069-160971070	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs149052263	chr6:160971082-160971083	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs372959678	chr6:160971135-160971136	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183317036	chr6:160971136-160971137	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs377173502	chr6:160971167-160971168	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs74398319	chr6:160971202-160971203	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs34061042	chr6:160971220-160971221	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557148506	chr6:160971230-160971231	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs35220367	chr6:160971253-160971254	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs111720924	chr6:160971254-160971255	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs397885197	chr6:160971268-160971269	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs574259955	chr6:160971285-160971286	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs62441900	chr6:160971286-160971287	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs559693805	chr6:160971287-160971288	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373602398	chr6:160971305-160971306	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566011257	chr6:160971316-160971317	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545429098	chr6:160971331-160971332	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565332371	chr6:160971414-160971415	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531046335	chr6:160971457-160971458	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs73784279	chr6:160971505-160971506	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs73594872	chr6:160971533-160971534	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs529162673	chr6:160971577-160971578	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201425076	chr6:160971595-160971596	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs117635799	chr6:160971630-160971631	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188261932	chr6:160971698-160971699	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374613322	chr6:160971708-160971709	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs527603971	chr6:160971724-160971725	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs193182562	chr6:160971778-160971779	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550986442	chr6:160971825-160971826	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547662868	chr6:160971841-160971842	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs11969491	chr6:160971934-160971935	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs73012297	chr6:160971971-160971972	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs557111737	chr6:160971977-160971978	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567812208	chr6:160971991-160971992	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs141756012	chr6:160972003-160972004	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs114914749	chr6:160972047-160972048	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529938789	chr6:160972048-160972049	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs573484861	chr6:160972105-160972106	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs116223426	chr6:160972119-160972120	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549706597	chr6:160972136-160972137	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs148438084	chr6:160972144-160972145	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs575791101	chr6:160972148-160972149	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs544744654	chr6:160972192-160972193	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	17850661	CNVD
Renal cell carcinoma	18765545	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Coronary artery disease	17160897	CNVD
Chordoma	18071362	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21509527	CNVD
Coronary Disease	20032323	CNVD
Coronary Disease	20335594	CNVD
Breast cancer	22522925	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD
Atherosclerosis	21956041	CNVD
Maculopathy	20981449	CNVD
Retinoblastoma	22278416	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Uveal melanoma	20484589	CNVD
Glioblastoma multiforme	19435819	CNVD
Recurrent pregnancy loss	19789632	CNVD
Autism	21865298	CNVD
Schizophrenia	23813976	CNVD
Carotid artery disease	21127300	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Astrocytoma	16205629	CNVD
Parkinson disease	17160897	CNVD

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:160954400-160981000	Strong transcription	Liver	Liver
2	chr6:160968600-160974800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr6:160974800-160975200	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
4	chr6:160975200-160977800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr6:160977800-160978400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr6:160978400-160981400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr6:160979600-160979800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:160980000-160980200	Enhancers	Fetal Brain Male	brain
9	chr6:160981000-160984400	Weak transcription	Liver	Liver
10	chr6:160984400-160987200	Strong transcription	Liver	Liver
11	chr6:160987200-160990600	Weak transcription	Liver	Liver
12	chr6:160990600-161032600	Strong transcription	Liver	Liver
13	chr6:160992000-160992600	Enhancers	K562	blood
14	chr6:160992600-160993000	Flanking Active TSS	K562	blood
15	chr6:160993000-160996000	Enhancers	K562	blood
16	chr6:160997200-161001000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr6:161004400-161004800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr6:161004400-161005000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr6:161004400-161005000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr6:161004400-161005000	Enhancers	NHEK	skin
21	chr6:161004600-161005200	Enhancers	HMEC	breast
22	chr6:161005400-161008400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr6:161008400-161009000	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
24	chr6:161009000-161019200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr6:161017600-161018200	Active TSS	Aorta	Aorta
26	chr6:161018200-161018600	Enhancers	Aorta	Aorta
27	chr6:161019200-161022200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr6:161022200-161025000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr6:161025000-161026200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr6:161026200-161029400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr6:161031200-161031800	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
32	chr6:161031800-161032000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr6:161032000-161032600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr6:161032600-161034200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr6:161032600-161034400	Weak transcription	Liver	Liver
36	chr6:161055600-161056000	Active TSS	Fetal Heart	heart
37	chr6:161055600-161056000	ZNF genes & repeats	Stomach Mucosa	stomach
38	chr6:161055600-161056200	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
39	chr6:161055800-161056000	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
40	chr6:161055800-161056000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr6:161055800-161056000	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
42	chr6:161055800-161056000	ZNF genes & repeats	Fetal Brain Male	brain
43	chr6:161055800-161056200	ZNF genes & repeats	Fetal Stomach	stomach
44	chr6:161056200-161069400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr6:161063400-161067800	Weak transcription	Liver	Liver
46	chr6:161067800-161072400	Strong transcription	Liver	Liver
47	chr6:161069400-161069800	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
48	chr6:161069800-161071600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr6:161071600-161077000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr6:161072400-161073400	Weak transcription	Liver	Liver

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