Variant report

Variant	nsv970075
Chromosome Location	chr6:5829270-5841514
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 515 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:515 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150541849	chr6:5829271-5829272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs573562850	chr6:5829272-5829273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs540947325	chr6:5829279-5829280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs200762048	chr6:5829280-5829281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs191774032	chr6:5829313-5829314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs574292987	chr6:5829341-5829342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs541862004	chr6:5829349-5829350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182453740	chr6:5829360-5829361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs530668060	chr6:5829367-5829368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs538087615	chr6:5829370-5829371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs139445209	chr6:5829372-5829373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs528342982	chr6:5829398-5829399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs187146586	chr6:5829399-5829400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs191142523	chr6:5829416-5829417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs183688276	chr6:5829435-5829436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs188581295	chr6:5829467-5829468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs193260631	chr6:5829491-5829492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs553397455	chr6:5829493-5829494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs185705691	chr6:5829518-5829519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs551457633	chr6:5829522-5829523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs566887339	chr6:5829524-5829525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs149669244	chr6:5829579-5829580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs556098320	chr6:5829588-5829589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs574430217	chr6:5829595-5829596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs147524482	chr6:5829630-5829631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs35378209	chr6:5829645-5829646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs556748437	chr6:5829652-5829653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs13219662	chr6:5829715-5829716	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs56369682	chr6:5829744-5829745	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs13208229	chr6:5829760-5829761	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs554742525	chr6:5829858-5829859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs572517181	chr6:5829881-5829882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs540093217	chr6:5829888-5829889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs561646006	chr6:5829926-5829927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs112844792	chr6:5829995-5829996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs550487845	chr6:5830010-5830011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs190216374	chr6:5830061-5830062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs1359052	chr6:5830066-5830067	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs113753471	chr6:5830069-5830070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs140716801	chr6:5830090-5830091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs551913258	chr6:5830094-5830095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs115690248	chr6:5830102-5830103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs368110938	chr6:5830109-5830110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs1819202	chr6:5830171-5830172	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs192976876	chr6:5830225-5830226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs145546635	chr6:5830297-5830298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs58885090	chr6:5830324-5830325	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs114858462	chr6:5830325-5830326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs539122968	chr6:5830353-5830354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs557437124	chr6:5830369-5830370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Developmental delay	19490664	CNVD
Cancer	21183584	CNVD
Multiple Epiphyseal Dysplasia	20877625	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Glaucoma	18694899	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Cancer	20164920	CNVD
Colorectal cancer	21297112	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	22495311	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
small cell lung cancer	20016488	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
dysmorphism	22105932	CNVD
psychomotor delay	22105932	CNVD
Ovarian cancer	19193619	CNVD
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21364760	CNVD
Ovarian cancer	21720365	CNVD

Chromatin state (count:150 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5825000-5829400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr6:5825000-5832000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr6:5825400-5830600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr6:5825400-5830600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr6:5826600-5831600	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr6:5827200-5829400	Enhancers	Fetal Brain Male	brain
7	chr6:5827200-5829600	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr6:5827200-5829600	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr6:5827400-5835000	Enhancers	Fetal Thymus	thymus
10	chr6:5827600-5829400	Enhancers	Primary B cells from cord blood	blood
11	chr6:5827600-5831600	Enhancers	Primary T cells from cord blood	blood
12	chr6:5827800-5829600	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr6:5828000-5829400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr6:5828000-5829600	Enhancers	Brain Germinal Matrix	brain
15	chr6:5828000-5831600	Weak transcription	Right Atrium	heart
16	chr6:5828200-5833800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:5828400-5830000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr6:5828400-5831600	Weak transcription	Fetal Muscle Leg	muscle
19	chr6:5828800-5830000	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr6:5828800-5831600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr6:5828800-5831600	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr6:5828800-5831600	Weak transcription	Thymus	Thymus
23	chr6:5829000-5829400	Weak transcription	Primary hematopoietic stem cells	blood
24	chr6:5829000-5830400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr6:5829000-5830600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr6:5829000-5830800	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr6:5829000-5831000	Weak transcription	Primary B cells from peripheral blood	blood
28	chr6:5829000-5831600	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr6:5829200-5831800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr6:5829200-5835000	Enhancers	Primary T cells fromperipheralblood	blood
31	chr6:5829400-5829600	Enhancers	Primary hematopoietic stem cells	blood
32	chr6:5829400-5829600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr6:5829400-5831000	Weak transcription	Primary B cells from cord blood	blood
34	chr6:5829400-5831600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr6:5829600-5830600	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr6:5829600-5830800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr6:5829600-5831200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr6:5829600-5831600	Weak transcription	Primary hematopoietic stem cells	blood
39	chr6:5829600-5831600	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr6:5830000-5830400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr6:5830000-5830400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr6:5830400-5831600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr6:5830400-5831600	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr6:5830400-5833400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr6:5830600-5831600	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr6:5830600-5833600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr6:5830600-5834000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr6:5830600-5834200	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr6:5830800-5831600	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr6:5830800-5833000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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