Variant report

Variant	esv3474357
Chromosome Location	chr6:161565896-161567492
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:161564867..161570084-chr6:161571350..161575451,5	K562	blood:
2	chr6:161548242..161551323-chr6:161565381..161568765,4	K562	blood:
3	chr6:161551128..161553657-chr6:161566830..161569140,2	K562	blood:
4	chr6:161561291..161565490-chr6:161565996..161568943,5	K562	blood:
5	chr6:161561596..161565261-chr6:161565633..161567932,4	K562	blood:
6	chr6:161566087..161569641-chr6:161785856..161789665,3	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4598047	chr6:161565896-161565897	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs565080942	chr6:161565921-161565922	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11963991	chr6:161565962-161565963	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs150720261	chr6:161565967-161565968	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs4616970	chr6:161565969-161565970	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs368316244	chr6:161565991-161565992	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs370875919	chr6:161565999-161566000	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs374298016	chr6:161566002-161566003	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs367908270	chr6:161566007-161566008	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570425162	chr6:161566008-161566009	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs6906926	chr6:161566019-161566020	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs4547987	chr6:161566026-161566027	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs4621614	chr6:161566034-161566035	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs557865332	chr6:161566080-161566081	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571414085	chr6:161566123-161566124	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534976198	chr6:161566128-161566129	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557005629	chr6:161566148-161566149	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574204158	chr6:161566273-161566274	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs66683315	chr6:161566275-161566276	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs553254717	chr6:161566342-161566343	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573367200	chr6:161566392-161566393	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs1880367	chr6:161566405-161566406	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs376075614	chr6:161566425-161566426	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537217448	chr6:161566448-161566449	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530925124	chr6:161566461-161566462	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs6912308	chr6:161566513-161566514	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs113744449	chr6:161566559-161566560	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560970279	chr6:161566561-161566562	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs76864849	chr6:161566588-161566589	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577228786	chr6:161566616-161566617	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181405636	chr6:161566621-161566622	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs149909712	chr6:161566660-161566661	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs1880366	chr6:161566668-161566669	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs185837178	chr6:161566682-161566683	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs79213545	chr6:161566685-161566686	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537146566	chr6:161566724-161566725	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs556967475	chr6:161566804-161566805	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190832057	chr6:161566815-161566816	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs373851143	chr6:161566816-161566817	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535901849	chr6:161566823-161566824	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553607009	chr6:161566825-161566826	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573502056	chr6:161566897-161566898	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs6455707	chr6:161566909-161566910	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs145330860	chr6:161567005-161567006	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575309654	chr6:161567014-161567015	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs182014013	chr6:161567018-161567019	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs561261428	chr6:161567060-161567061	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs530084518	chr6:161567078-161567079	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs542129956	chr6:161567117-161567118	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs559588997	chr6:161567234-161567235	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
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
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
Astrocytoma	16205629	CNVD
Parkinson disease	17160897	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:138 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161541000-161584600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr6:161542000-161567200	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr6:161542000-161585600	Weak transcription	Fetal Kidney	kidney
4	chr6:161544600-161589600	Weak transcription	Fetal Brain Male	brain
5	chr6:161545000-161584800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr6:161548400-161590800	Weak transcription	Fetal Thymus	thymus
7	chr6:161549200-161577000	Strong transcription	Fetal Brain Female	brain
8	chr6:161549200-161577400	Strong transcription	Fetal Stomach	stomach
9	chr6:161549800-161589400	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr6:161550000-161584600	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr6:161550200-161577400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr6:161550400-161567000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr6:161553200-161569600	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr6:161553400-161571800	Weak transcription	HUVEC	blood vessel
15	chr6:161553800-161586600	Weak transcription	Duodenum Mucosa	Duodenum
16	chr6:161554000-161574000	Weak transcription	Pancreas	Pancrea
17	chr6:161554000-161591000	Weak transcription	Colonic Mucosa	Colon
18	chr6:161555000-161585000	Weak transcription	Right Atrium	heart
19	chr6:161555200-161567000	Weak transcription	Fetal Lung	lung
20	chr6:161555600-161568800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr6:161555800-161586600	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr6:161556200-161566600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr6:161556600-161567800	Weak transcription	Primary hematopoietic stem cells	blood
24	chr6:161557600-161567000	Weak transcription	Left Ventricle	heart
25	chr6:161557600-161569200	Weak transcription	Aorta	Aorta
26	chr6:161557600-161574400	Weak transcription	Gastric	stomach
27	chr6:161557600-161581400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr6:161557800-161584200	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr6:161558200-161571400	Weak transcription	Thymus	Thymus
30	chr6:161558200-161571800	Weak transcription	Primary B cells from cord blood	blood
31	chr6:161558200-161577800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr6:161558200-161582600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr6:161558200-161589400	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr6:161558400-161581400	Weak transcription	Colon Smooth Muscle	Colon
35	chr6:161558600-161574400	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr6:161559000-161566400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr6:161559400-161568200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr6:161559400-161587600	Weak transcription	Fetal Intestine Large	intestine
39	chr6:161560000-161583200	Weak transcription	HMEC	breast
40	chr6:161560200-161566200	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr6:161560200-161566600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr6:161560200-161574800	Weak transcription	Right Ventricle	heart
43	chr6:161560200-161583800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr6:161560400-161566200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr6:161560400-161566400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr6:161560400-161567000	Weak transcription	Brain Angular Gyrus	brain
47	chr6:161560400-161567200	Weak transcription	Brain Cingulate Gyrus	brain
48	chr6:161560400-161568800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr6:161560400-161568800	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr6:161560400-161571800	Weak transcription	Placenta Amnion	Placenta Amnion

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