Variant report

Variant	nsv970732
Chromosome Location	chr6:164480301-164496822
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:164495742..164498134-chr6:164508820..164511550,2	K562	blood:
2	chr6:164476599..164479230-chr6:164482473..164484919,2	K562	blood:

Extended variants
information (count: 701 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:701 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541415939	chr6:164480304-164480305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs406530	chr6:164480314-164480315	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs9365653	chr6:164480321-164480322	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs145953212	chr6:164480411-164480412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs147835158	chr6:164480448-164480449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566959813	chr6:164480502-164480503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs371989552	chr6:164480510-164480511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs532905362	chr6:164480526-164480527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148846953	chr6:164480535-164480536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545622840	chr6:164480540-164480541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182183947	chr6:164480545-164480546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs34154926	chr6:164480549-164480550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538254228	chr6:164480606-164480607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548260703	chr6:164480647-164480648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568568257	chr6:164480661-164480662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534019143	chr6:164480665-164480666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs74541683	chr6:164480676-164480677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576622793	chr6:164480679-164480680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs35113877	chr6:164480711-164480712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs199861611	chr6:164480712-164480713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs397888333	chr6:164480713-164480714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200391751	chr6:164480714-164480715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs448879	chr6:164480759-164480760	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs390097	chr6:164480798-164480799	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs575895452	chr6:164480802-164480803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561293021	chr6:164480815-164480816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376634741	chr6:164480818-164480819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs9295254	chr6:164480838-164480839	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs374455124	chr6:164480844-164480845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs143511785	chr6:164480845-164480846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs572147926	chr6:164480872-164480873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs390662	chr6:164480906-164480907	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs9347816	chr6:164480933-164480934	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs554611544	chr6:164480960-164480961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs6905119	chr6:164480969-164480970	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs73016580	chr6:164480971-164480972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563197562	chr6:164481011-164481012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531889217	chr6:164481013-164481014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs554047205	chr6:164481017-164481018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs74491151	chr6:164481018-164481019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374254692	chr6:164481024-164481025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568352721	chr6:164481034-164481035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs147973164	chr6:164481057-164481058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs141635952	chr6:164481068-164481069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs118010512	chr6:164481089-164481090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs557846058	chr6:164481093-164481094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573029275	chr6:164481121-164481122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs414708	chr6:164481126-164481127	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs535378337	chr6:164481203-164481204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs186323688	chr6:164481204-164481205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Astrocytoma	16205629	CNVD
Parkinson disease	17160897	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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:164479000-164484400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:164483000-164483400	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr6:164483000-164484600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr6:164483400-164484400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr6:164484200-164484600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr6:164484200-164484600	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr6:164484200-164484800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr6:164484200-164484800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr6:164484200-164484800	Enhancers	Brain Anterior Caudate	brain
10	chr6:164484200-164484800	Enhancers	Psoas Muscle	Psoas
11	chr6:164484400-164484800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr6:164484400-164484800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:164484400-164484800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
14	chr6:164484400-164484800	Enhancers	Brain Hippocampus Middle	brain
15	chr6:164484400-164484800	Enhancers	Fetal Muscle Leg	muscle
16	chr6:164484400-164486000	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr6:164484600-164490400	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr6:164484800-164487400	Weak transcription	Fetal Muscle Leg	muscle
19	chr6:164484800-164488600	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr6:164484800-164492000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr6:164484800-164502800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr6:164486000-164488000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr6:164487000-164488400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr6:164487200-164487400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr6:164487200-164488200	Enhancers	Adipose Nuclei	Adipose
26	chr6:164487400-164490800	Enhancers	Fetal Muscle Leg	muscle
27	chr6:164488000-164488200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr6:164488000-164488200	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr6:164488200-164493800	Weak transcription	Adipose Nuclei	Adipose
30	chr6:164488400-164488800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr6:164488600-164493200	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr6:164488800-164489400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr6:164489200-164493400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr6:164489400-164489800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr6:164489400-164490800	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr6:164489400-164491000	Enhancers	NH-A	brain
37	chr6:164489600-164489800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr6:164489600-164492400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr6:164489800-164490600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr6:164489800-164490800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr6:164490000-164490200	Enhancers	Brain Cingulate Gyrus	brain
42	chr6:164490200-164490400	Active TSS	Brain Anterior Caudate	brain
43	chr6:164490200-164490400	Enhancers	Brain Hippocampus Middle	brain
44	chr6:164490200-164490600	Active TSS	Brain Angular Gyrus	brain
45	chr6:164490200-164490600	Enhancers	Brain Germinal Matrix	brain
46	chr6:164490200-164490600	Active TSS	Brain Substantia Nigra	brain
47	chr6:164490200-164490600	Enhancers	Fetal Brain Male	brain
48	chr6:164490200-164490600	Enhancers	Fetal Muscle Trunk	muscle
49	chr6:164490200-164490600	Enhancers	Left Ventricle	heart
50	chr6:164490200-164490800	Flanking Active TSS	Brain Cingulate Gyrus	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links