Variant report

Variant	esv1792808
Chromosome Location	chr6:167155187-167164571
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:167160489..167162374-chr6:167163032..167165986,2	K562	blood:
2	chr6:167160489..167162374-chr6:167163032..167165986,2	K562	blood:
3	chr6:167039628..167041364-chr6:167163244..167165367,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000071242	chromatin interactions

Extended variants
information (count: 559 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:559 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3734597	chr6:167155187-167155188	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs544806248	chr6:167155205-167155206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs191840636	chr6:167155216-167155217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs533642011	chr6:167155232-167155233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs563228724	chr6:167155299-167155300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs141701915	chr6:167155334-167155335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs527786459	chr6:167155341-167155342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs150527186	chr6:167155352-167155353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs567646318	chr6:167155363-167155364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs9459733	chr6:167155411-167155412	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs550339599	chr6:167155453-167155454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs9459734	chr6:167155473-167155474	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs539311417	chr6:167155530-167155531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs146396428	chr6:167155531-167155532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs181290707	chr6:167155548-167155549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs533549109	chr6:167155563-167155564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs9457200	chr6:167155565-167155566	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs528636619	chr6:167155591-167155592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs573759116	chr6:167155595-167155596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs185302558	chr6:167155608-167155609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs563040165	chr6:167155610-167155611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs578252606	chr6:167155634-167155635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs545670721	chr6:167155759-167155760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs560621018	chr6:167155815-167155816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs527726905	chr6:167155829-167155830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs75250076	chr6:167155870-167155871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs17517640	chr6:167155873-167155874	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs531665444	chr6:167155895-167155896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs189767854	chr6:167155897-167155898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs182110723	chr6:167155909-167155910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs539348320	chr6:167156028-167156029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs551698710	chr6:167156031-167156032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs566643105	chr6:167156032-167156033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs533813732	chr6:167156052-167156053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs555037080	chr6:167156053-167156054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs573798303	chr6:167156061-167156062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs537902671	chr6:167156084-167156085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs556798030	chr6:167156100-167156101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs578169569	chr6:167156108-167156109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs545263922	chr6:167156110-167156111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs554484919	chr6:167156111-167156112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs572628462	chr6:167156150-167156151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs368677262	chr6:167156151-167156152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs139784070	chr6:167156161-167156162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs150055709	chr6:167156179-167156180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs186578734	chr6:167156199-167156200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs144355938	chr6:167156222-167156223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs565032802	chr6:167156315-167156316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs192064618	chr6:167156316-167156317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs551267648	chr6:167156344-167156345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Ovarian cancer	21720365	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
Acute myeloid leukemia	19651601	CNVD
Sudden cardiac death	19188705	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Ependymoma	20639864	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Autism	22549408	CNVD

Chromatin state (count:240 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167136600-167157600	Weak transcription	Brain Angular Gyrus	brain
2	chr6:167142800-167156600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:167149800-167155400	Enhancers	Fetal Stomach	stomach
4	chr6:167150600-167157000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:167152200-167155800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr6:167152200-167156000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:167152200-167157200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr6:167152400-167160800	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr6:167152600-167157200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr6:167152800-167157600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr6:167153600-167156800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr6:167153600-167157000	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr6:167153600-167157200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr6:167153600-167157200	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr6:167153600-167157800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr6:167153800-167157000	Weak transcription	HSMMtube	muscle
17	chr6:167153800-167157200	Weak transcription	HSMM	muscle
18	chr6:167153800-167160800	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr6:167154600-167157400	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr6:167154600-167158000	Weak transcription	Pancreas	Pancrea
21	chr6:167155000-167155800	Weak transcription	Brain Anterior Caudate	brain
22	chr6:167155200-167157200	Enhancers	Brain Germinal Matrix	brain
23	chr6:167155800-167157800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr6:167155800-167157800	Enhancers	Brain Anterior Caudate	brain
25	chr6:167156000-167156400	Enhancers	Brain Substantia Nigra	brain
26	chr6:167156000-167157000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr6:167156000-167157800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr6:167156000-167158000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr6:167156200-167156600	Enhancers	Fetal Kidney	kidney
30	chr6:167156400-167158200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr6:167156600-167157400	Weak transcription	Fetal Kidney	kidney
32	chr6:167156600-167157400	Enhancers	Fetal Lung	lung
33	chr6:167156600-167157800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr6:167156800-167157600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr6:167156800-167157800	Enhancers	Rectal Smooth Muscle	rectum
36	chr6:167157000-167157400	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr6:167157000-167157600	Enhancers	HSMMtube	muscle
38	chr6:167157000-167158000	Enhancers	Fetal Heart	heart
39	chr6:167157000-167158000	Enhancers	NH-A	brain
40	chr6:167157000-167158200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr6:167157200-167157400	Enhancers	H1 Cell Line	embryonic stem cell
42	chr6:167157200-167157600	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr6:167157200-167157800	Bivalent Enhancer	Fetal Stomach	stomach
44	chr6:167157200-167157800	Enhancers	Placenta Amnion	Placenta Amnion
45	chr6:167157200-167157800	Enhancers	HSMM	muscle
46	chr6:167157200-167158000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr6:167157200-167158000	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr6:167157200-167158200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr6:167157200-167158400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr6:167157400-167157600	Enhancers	Muscle Satellite Cultured Cells	--

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