Variant report

Variant	nsv969431
Chromosome Location	chr6:100979137-100981528
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 88 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:88 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146999052	chr6:100979204-100979205	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs538858740	chr6:100979223-100979224	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551547561	chr6:100979280-100979281	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369244951	chr6:100979434-100979435	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs571651302	chr6:100979445-100979446	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs56165510	chr6:100979446-100979447	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs397936300	chr6:100979456-100979457	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs200075672	chr6:100979477-100979478	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575357630	chr6:100979483-100979484	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs10457808	chr6:100979506-100979507	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs188258400	chr6:100979526-100979527	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557189419	chr6:100979535-100979536	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573229914	chr6:100979554-100979555	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs374743403	chr6:100979588-100979589	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs540265305	chr6:100979594-100979595	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs113457055	chr6:100979615-100979616	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs370667123	chr6:100979625-100979626	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs138213710	chr6:100979626-100979627	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573582665	chr6:100979643-100979644	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs535842840	chr6:100979665-100979666	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs371695279	chr6:100979669-100979670	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545237068	chr6:100979675-100979676	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563442531	chr6:100979680-100979681	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs530699187	chr6:100979702-100979703	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs367863776	chr6:100979752-100979753	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549094316	chr6:100979890-100979891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs192717283	chr6:100979908-100979909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375710351	chr6:100979927-100979928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183644989	chr6:100979954-100979955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546239967	chr6:100979961-100979962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs186856980	chr6:100980057-100980058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs553047095	chr6:100980062-100980063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571624663	chr6:100980118-100980119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs192431074	chr6:100980147-100980148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs371819179	chr6:100980212-100980213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs184827983	chr6:100980237-100980238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570395290	chr6:100980242-100980243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs61056012	chr6:100980244-100980245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs7756328	chr6:100980245-100980246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201932880	chr6:100980246-100980247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs58933775	chr6:100980248-100980249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12208107	chr6:100980250-100980251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs2398127	chr6:100980252-100980253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs2398128	chr6:100980256-100980257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs2398129	chr6:100980258-100980259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555909858	chr6:100980280-100980281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376872508	chr6:100980281-100980282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12201986	chr6:100980282-100980283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs370252152	chr6:100980283-100980284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs2157340	chr6:100980284-100980285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

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
Endometrioid adenocarcinoma	16974079	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
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	17443227	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
Leukemia	18688285	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
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	17640729	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
Chronic lymphocytic leukemia	20421269	CNVD
small cell lung cancer	20016488	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17170743	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21785460	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Myelofibrosis	22110671	CNVD
Obesity	21045960	CNVD
Liver carcinoma	19366792	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:100952800-100997400	Weak transcription	A549	lung
2	chr6:100954600-100986200	Weak transcription	Spleen	Spleen
3	chr6:100955800-100991200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr6:100957400-100992400	Weak transcription	Small Intestine	intestine
5	chr6:100960600-100990200	Weak transcription	Brain Substantia Nigra	brain
6	chr6:100960800-100981000	Weak transcription	Gastric	stomach
7	chr6:100960800-100986000	Weak transcription	GM12878-XiMat	blood
8	chr6:100960800-100986200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr6:100960800-100986600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr6:100960800-100989600	Weak transcription	K562	blood
11	chr6:100960800-100989800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr6:100960800-101035000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr6:100961000-100986600	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr6:100961000-100987200	Weak transcription	Osteobl	bone
15	chr6:100961000-100988800	Weak transcription	NHEK	skin
16	chr6:100961000-100991200	Weak transcription	HSMMtube	muscle
17	chr6:100961000-100992000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr6:100961000-100997200	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr6:100961200-100989000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr6:100961400-100986000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr6:100963000-100986800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr6:100964000-100990800	Weak transcription	Primary hematopoietic stem cells	blood
23	chr6:100964200-100986200	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr6:100964200-101020000	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr6:100964800-100998400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr6:100965200-100984000	Weak transcription	HepG2	liver
27	chr6:100965200-100986600	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr6:100965200-100989600	Weak transcription	Aorta	Aorta
29	chr6:100965200-100990200	Weak transcription	Left Ventricle	heart
30	chr6:100965200-101000800	Weak transcription	Fetal Intestine Small	intestine
31	chr6:100965200-101011400	Weak transcription	Pancreas	Pancrea
32	chr6:100965400-100984200	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr6:100965400-100984400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr6:100965400-100984400	Weak transcription	Psoas Muscle	Psoas
35	chr6:100965400-100985800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr6:100965400-100986600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr6:100965400-100988600	Weak transcription	Lung	lung
38	chr6:100965400-100989600	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr6:100965400-100989800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr6:100965400-100990400	Weak transcription	Duodenum Mucosa	Duodenum
41	chr6:100965400-100991800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr6:100965400-101005000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr6:100965600-100986800	Weak transcription	Primary B cells from peripheral blood	blood
44	chr6:100965600-100987000	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr6:100965600-100987800	Weak transcription	Adipose Nuclei	Adipose
46	chr6:100965600-101033600	Weak transcription	Ovary	ovary
47	chr6:100965800-100984400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr6:100965800-100987400	Weak transcription	Placenta	Placenta
49	chr6:100966000-101002400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr6:100966200-100983000	Weak transcription	Dnd41	blood

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