Variant report

Variant	esv33824
Chromosome Location	chr6:161603136-161608905
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:161607405..161609725-chr6:161623701..161625620,3	K562	blood:
2	chr6:161590670..161592878-chr6:161605980..161608609,2	MCF-7	breast:
3	chr6:161607404..161608977-chr6:161612196..161613935,2	K562	blood:
4	chr6:161601048..161604055-chr6:161608351..161610075,3	K562	blood:
5	chr6:161601048..161605032-chr6:161608423..161610075,3	K562	blood:
6	chr6:161601048..161604055-chr6:161608351..161610075,3	K562	blood:
7	chr6:161602471..161604223-chr6:161623568..161625542,2	MCF-7	breast:
8	chr6:161601048..161605032-chr6:161608423..161610075,3	K562	blood:
9	chr6:161605475..161607777-chr6:161609671..161612543,2	K562	blood:
10	chr6:161608508..161611578-chr6:161612848..161615127,3	K562	blood:

No data

Extended variants
information (count: 235 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:235 , 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	rs551621310	chr6:161603150-161603151	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs9365256	chr6:161603201-161603202	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs181888175	chr6:161603204-161603205	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs9365257	chr6:161603268-161603269	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
5	rs370197436	chr6:161603271-161603272	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs569981020	chr6:161603272-161603273	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs535783968	chr6:161603301-161603302	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs555579759	chr6:161603309-161603310	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs9347483	chr6:161603311-161603312	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs572316961	chr6:161603326-161603327	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs541111273	chr6:161603345-161603346	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs186086711	chr6:161603371-161603372	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs557580184	chr6:161603386-161603387	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs67531830	chr6:161603519-161603520	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs543075734	chr6:161603545-161603546	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs190844079	chr6:161603577-161603578	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs529520912	chr6:161603589-161603590	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs182344383	chr6:161603631-161603632	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs377527016	chr6:161603671-161603672	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs73786018	chr6:161603687-161603688	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs528668586	chr6:161603722-161603723	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs551805366	chr6:161603755-161603756	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs375734222	chr6:161603782-161603783	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs565268968	chr6:161603803-161603804	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs565257204	chr6:161603826-161603827	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs530899721	chr6:161603843-161603844	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs185859980	chr6:161603857-161603858	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs550685715	chr6:161603890-161603891	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs191566708	chr6:161603892-161603893	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs147734133	chr6:161603893-161603894	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs549338409	chr6:161603912-161603913	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs565842435	chr6:161603913-161603914	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs534523358	chr6:161603930-161603931	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs557808901	chr6:161603934-161603935	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs577681547	chr6:161603977-161603978	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs12203149	chr6:161603980-161603981	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs556534104	chr6:161604007-161604008	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs573339949	chr6:161604015-161604016	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs542870407	chr6:161604092-161604093	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs559621815	chr6:161604145-161604146	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs573356918	chr6:161604149-161604150	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs142644250	chr6:161604153-161604154	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs78596493	chr6:161604229-161604230	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs530888616	chr6:161604239-161604240	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs551101736	chr6:161604240-161604241	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs561257029	chr6:161604243-161604244	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs530126789	chr6:161604253-161604254	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs549254630	chr6:161604281-161604282	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs566004559	chr6:161604312-161604313	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs182837675	chr6:161604335-161604336	Weak transcription Strong transcription Enhancers	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	21293372	CNVD

Chromatin state (count:196 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161585600-161626000	Weak transcription	Right Atrium	heart
2	chr6:161587400-161607000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr6:161590000-161611600	Weak transcription	HSMMtube	muscle
4	chr6:161590200-161607600	Weak transcription	HSMM	muscle
5	chr6:161590400-161606800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:161591000-161607000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr6:161591400-161626200	Weak transcription	Stomach Smooth Muscle	stomach
8	chr6:161591600-161615400	Weak transcription	Fetal Heart	heart
9	chr6:161591800-161607000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr6:161592000-161607000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr6:161592000-161609600	Weak transcription	Fetal Brain Male	brain
12	chr6:161592200-161606600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr6:161599400-161606800	Weak transcription	Osteobl	bone
14	chr6:161599800-161647600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr6:161600000-161604800	Weak transcription	Spleen	Spleen
16	chr6:161600000-161607200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr6:161600200-161606800	Weak transcription	NHDF-Ad	bronchial
18	chr6:161600200-161610000	Weak transcription	Primary T cells from cord blood	blood
19	chr6:161600400-161607000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr6:161600400-161619400	Weak transcription	Fetal Lung	lung
21	chr6:161600400-161626000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr6:161600600-161603400	Weak transcription	Fetal Muscle Trunk	muscle
23	chr6:161600600-161607000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr6:161600600-161613000	Weak transcription	Primary B cells from cord blood	blood
25	chr6:161600600-161613800	Weak transcription	Fetal Brain Female	brain
26	chr6:161600800-161603800	Strong transcription	Fetal Stomach	stomach
27	chr6:161600800-161607200	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr6:161600800-161607600	Weak transcription	Ovary	ovary
29	chr6:161600800-161608400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr6:161601000-161605400	Enhancers	Brain Substantia Nigra	brain
31	chr6:161601200-161604400	Enhancers	Brain Hippocampus Middle	brain
32	chr6:161601400-161603600	Weak transcription	Lung	lung
33	chr6:161601400-161608000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr6:161601400-161610400	Weak transcription	Aorta	Aorta
35	chr6:161601400-161636200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr6:161601600-161604400	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr6:161601600-161605000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr6:161601800-161604400	Enhancers	Brain Angular Gyrus	brain
39	chr6:161601800-161604800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr6:161601800-161604800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr6:161601800-161605200	Enhancers	Brain Cingulate Gyrus	brain
42	chr6:161601800-161609400	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr6:161601800-161609800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr6:161602000-161613800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr6:161602000-161619400	Weak transcription	Brain Germinal Matrix	brain
46	chr6:161602200-161603800	Enhancers	Brain Anterior Caudate	brain
47	chr6:161602200-161605000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr6:161602200-161605400	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr6:161602400-161605000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr6:161602400-161605400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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