Variant report

Variant	esv3371490
Chromosome Location	chr6:160953962-160958660
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:160940571..160941215-chr6:160954967..160955505,2	K562	blood:
2	chr6:160954972..160955719-chr6:161088699..161089595,2	MCF-7	breast:
3	chr6:160284403..160284908-chr6:160954965..160955519,2	K562	blood:
4	chr6:160559138..160559777-chr6:160954950..160955755,2	K562	blood:
5	chr6:160876699..160877379-chr6:160954968..160955609,2	K562	blood:
6	chr6:160940613..160941580-chr6:160954987..160955524,2	MCF-7	breast:

Extended variants
information (count: 221 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:221 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577256705	chr6:160954007-160954008	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs539493787	chr6:160954052-160954053	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551554788	chr6:160954058-160954059	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571475276	chr6:160954088-160954089	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536937143	chr6:160954107-160954108	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557270561	chr6:160954117-160954118	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs7454962	chr6:160954126-160954127	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs185161442	chr6:160954188-160954189	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs370507599	chr6:160954224-160954225	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536279674	chr6:160954243-160954244	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs41266369	chr6:160954272-160954273	Genic enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs373033936	chr6:160954295-160954296	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs41266367	chr6:160954377-160954378	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs41266365	chr6:160954379-160954380	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs147603465	chr6:160954386-160954387	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs142169067	chr6:160954459-160954460	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs150166922	chr6:160954476-160954477	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs377206076	chr6:160954490-160954491	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs3124785	chr6:160954505-160954506	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs537744381	chr6:160954526-160954527	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs138671474	chr6:160954527-160954528	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs77202442	chr6:160954531-160954532	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs532610037	chr6:160954564-160954565	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs76856247	chr6:160954600-160954601	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571352511	chr6:160954604-160954605	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs7775600	chr6:160954609-160954610	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374306294	chr6:160954709-160954710	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs149241450	chr6:160954725-160954726	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs199610004	chr6:160954794-160954795	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs143461353	chr6:160954800-160954801	Enhancers Active TSS Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7449940	chr6:160954848-160954849	Enhancers Active TSS Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs113514170	chr6:160954895-160954896	Enhancers Active TSS Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs7450109	chr6:160954912-160954913	Enhancers Active TSS Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183165077	chr6:160954924-160954925	Enhancers Active TSS Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186491596	chr6:160954959-160954960	Enhancers Active TSS Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191792965	chr6:160954996-160954997	Enhancers Active TSS Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs60628935	chr6:160955000-160955001	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575731194	chr6:160955059-160955060	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs544754774	chr6:160955084-160955085	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554884110	chr6:160955117-160955118	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs368371671	chr6:160955124-160955125	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs386707831	chr6:160955126-160955127	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs149345651	chr6:160955127-160955128	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs144698597	chr6:160955128-160955129	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs146156630	chr6:160955129-160955130	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs546298636	chr6:160955176-160955177	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368443469	chr6:160955221-160955222	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs575297973	chr6:160955243-160955244	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs531728401	chr6:160955267-160955268	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs550725214	chr6:160955268-160955269	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	17850661	CNVD
Renal cell carcinoma	18765545	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Coronary artery disease	17160897	CNVD
Chordoma	18071362	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21509527	CNVD
Pancreatic cancer	17952125	CNVD
Coronary Disease	20032323	CNVD
Coronary Disease	20335594	CNVD
Breast cancer	22522925	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
Recurrent pregnancy loss	19789632	CNVD
Autism	21865298	CNVD
Schizophrenia	23813976	CNVD
Carotid artery disease	21127300	CNVD

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:160951200-160955000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr6:160953600-160954400	Genic enhancers	Liver	Liver
3	chr6:160953600-160955000	Weak transcription	Pancreas	Pancrea
4	chr6:160954400-160981000	Strong transcription	Liver	Liver
5	chr6:160954800-160955000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr6:160954800-160955000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr6:160954800-160955000	Enhancers	Adipose Nuclei	Adipose
8	chr6:160954800-160955000	Active TSS	Colon Smooth Muscle	Colon
9	chr6:160954800-160955400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr6:160954800-160955400	Active TSS	A549	lung
11	chr6:160954800-160955600	Enhancers	Dnd41	blood
12	chr6:160955000-160955200	Active TSS	H9 Cell Line	embryonic stem cell
13	chr6:160955000-160955200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr6:160955000-160955200	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr6:160955000-160955200	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr6:160955000-160955200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr6:160955000-160955200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr6:160955000-160955200	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr6:160955000-160955200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr6:160955000-160955200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr6:160955000-160955200	Flanking Active TSS	Brain Hippocampus Middle	brain
22	chr6:160955000-160955200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr6:160955000-160955200	Enhancers	Fetal Intestine Small	intestine
24	chr6:160955000-160955200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
25	chr6:160955000-160955200	Flanking Bivalent TSS/Enh	Osteobl	bone
26	chr6:160955000-160955400	Enhancers	H1 Cell Line	embryonic stem cell
27	chr6:160955000-160955400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr6:160955000-160955400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr6:160955000-160955400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr6:160955000-160955400	Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr6:160955000-160955400	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr6:160955000-160955400	Active TSS	iPS-18 Cell Line	embryonic stem cell
33	chr6:160955000-160955400	Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr6:160955000-160955400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr6:160955000-160955400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr6:160955000-160955400	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr6:160955000-160955400	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr6:160955000-160955400	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr6:160955000-160955400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr6:160955000-160955400	Active TSS	Muscle Satellite Cultured Cells	--
41	chr6:160955000-160955400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr6:160955000-160955400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr6:160955000-160955400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr6:160955000-160955400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr6:160955000-160955400	Flanking Active TSS	Adipose Nuclei	Adipose
46	chr6:160955000-160955400	Flanking Active TSS	Brain Angular Gyrus	brain
47	chr6:160955000-160955400	Active TSS	Brain Anterior Caudate	brain
48	chr6:160955000-160955400	Active TSS	Brain Cingulate Gyrus	brain
49	chr6:160955000-160955400	Active TSS	Brain Inferior Temporal Lobe	brain
50	chr6:160955000-160955400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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