Variant report

Variant	nsv981170
Chromosome Location	chr6:100988799-100994802
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 197 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:197 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs207467310	chr6:100988911-100988912	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs11155496	chr6:100988939-100988940	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs181012566	chr6:100988952-100988953	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs530486483	chr6:100988953-100988954	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs187133777	chr6:100988994-100988995	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs189620294	chr6:100988999-100989000	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs146201382	chr6:100989000-100989001	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs368498736	chr6:100989017-100989018	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs74542706	chr6:100989020-100989021	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs546937780	chr6:100989022-100989023	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs546614768	chr6:100989049-100989050	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs137945441	chr6:100989084-100989085	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs142115846	chr6:100989101-100989102	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs554667429	chr6:100989169-100989170	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs566354105	chr6:100989190-100989191	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs571564323	chr6:100989198-100989199	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs538856657	chr6:100989204-100989205	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs74868172	chr6:100989255-100989256	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs181589424	chr6:100989292-100989293	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs116520748	chr6:100989308-100989309	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs533361601	chr6:100989363-100989364	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs186104095	chr6:100989372-100989373	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs573196635	chr6:100989591-100989592	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs190078806	chr6:100989592-100989593	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553306358	chr6:100989653-100989654	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs183059869	chr6:100989671-100989672	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs375666735	chr6:100989673-100989674	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs558709754	chr6:100989674-100989675	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs146373291	chr6:100989748-100989749	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs185964639	chr6:100989802-100989803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs575373041	chr6:100989827-100989828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370986221	chr6:100989883-100989884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542400777	chr6:100989894-100989895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs76278411	chr6:100989899-100989900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs75152082	chr6:100989924-100989925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs190684122	chr6:100989941-100989942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs568940230	chr6:100989973-100989974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182974259	chr6:100989992-100989993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs77430451	chr6:100990016-100990017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551235594	chr6:100990029-100990030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187756929	chr6:100990048-100990049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536843175	chr6:100990060-100990061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548439561	chr6:100990064-100990065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566923954	chr6:100990070-100990071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs148581871	chr6:100990157-100990158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs192519610	chr6:100990170-100990171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182749192	chr6:100990173-100990174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375449465	chr6:100990292-100990293	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs571584622	chr6:100990298-100990299	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs538582652	chr6:100990340-100990341	Weak transcription ZNF genes & repeats	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:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:100952800-100997400	Weak transcription	A549	lung
2	chr6:100955800-100991200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr6:100957400-100992400	Weak transcription	Small Intestine	intestine
4	chr6:100960600-100990200	Weak transcription	Brain Substantia Nigra	brain
5	chr6:100960800-100989600	Weak transcription	K562	blood
6	chr6:100960800-100989800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr6:100960800-101035000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr6:100961000-100988800	Weak transcription	NHEK	skin
9	chr6:100961000-100991200	Weak transcription	HSMMtube	muscle
10	chr6:100961000-100992000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr6:100961000-100997200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr6:100961200-100989000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr6:100964000-100990800	Weak transcription	Primary hematopoietic stem cells	blood
14	chr6:100964200-101020000	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr6:100964800-100998400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr6:100965200-100989600	Weak transcription	Aorta	Aorta
17	chr6:100965200-100990200	Weak transcription	Left Ventricle	heart
18	chr6:100965200-101000800	Weak transcription	Fetal Intestine Small	intestine
19	chr6:100965200-101011400	Weak transcription	Pancreas	Pancrea
20	chr6:100965400-100989600	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr6:100965400-100989800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr6:100965400-100990400	Weak transcription	Duodenum Mucosa	Duodenum
23	chr6:100965400-100991800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr6:100965400-101005000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr6:100965600-101033600	Weak transcription	Ovary	ovary
26	chr6:100966000-101002400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr6:100966200-100991000	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr6:100966200-100996800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr6:100978200-101008200	Weak transcription	NHDF-Ad	bronchial
30	chr6:100978600-100989800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr6:100978600-101019400	Weak transcription	HMEC	breast
32	chr6:100979000-100989600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr6:100979200-100991400	Weak transcription	Liver	Liver
34	chr6:100979800-101018200	Weak transcription	Primary T cells from cord blood	blood
35	chr6:100981800-100990000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr6:100981800-101001400	Weak transcription	Brain Hippocampus Middle	brain
37	chr6:100983000-100989600	Strong transcription	Dnd41	blood
38	chr6:100984400-100989000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr6:100984800-100991200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr6:100984800-101000400	Weak transcription	HepG2	liver
41	chr6:100985800-100988800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr6:100986200-100988800	Weak transcription	Fetal Muscle Leg	muscle
43	chr6:100986400-100988800	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr6:100986400-100988800	Weak transcription	Hela-S3	cervix
45	chr6:100986400-101005600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr6:100986800-100988800	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr6:100986800-100989400	Strong transcription	Primary B cells from cord blood	blood
48	chr6:100987200-100989600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr6:100987200-100991000	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr6:100987400-100988800	Strong transcription	Placenta	Placenta

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