Variant report

Variant	esv3323305
Chromosome Location	chr6:165342462-165347460
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 454 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:454 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs752485	chr6:165342467-165342468	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs376126752	chr6:165342505-165342506	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs569398269	chr6:165342507-165342508	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs570082028	chr6:165342518-165342519	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs368650042	chr6:165342520-165342521	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs191974798	chr6:165342543-165342544	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs56000013	chr6:165342597-165342598	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs114321520	chr6:165342614-165342615	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs149212688	chr6:165342667-165342668	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs184351874	chr6:165342696-165342697	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs34144042	chr6:165342716-165342717	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs528288625	chr6:165342720-165342721	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs143411373	chr6:165342768-165342769	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs752487	chr6:165342777-165342778	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs530685618	chr6:165342793-165342794	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs546015644	chr6:165342798-165342799	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs571669036	chr6:165342817-165342818	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs528376532	chr6:165342824-165342825	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs538780253	chr6:165342856-165342857	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs546603837	chr6:165342860-165342861	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs568414676	chr6:165342875-165342876	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs188387470	chr6:165342877-165342878	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs374420020	chr6:165342938-165342939	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs147927982	chr6:165342961-165342962	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs181570621	chr6:165342989-165342990	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs539593259	chr6:165342999-165343000	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs78119884	chr6:165343019-165343020	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs116169365	chr6:165343049-165343050	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs534200843	chr6:165343063-165343064	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs141801799	chr6:165343064-165343065	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs74446548	chr6:165343080-165343081	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs9365816	chr6:165343087-165343088	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs556973523	chr6:165343095-165343096	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs147049874	chr6:165343125-165343126	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs545954191	chr6:165343146-165343147	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs564249505	chr6:165343150-165343151	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs75213595	chr6:165343154-165343155	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs573094478	chr6:165343195-165343196	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs540485771	chr6:165343197-165343198	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs561844425	chr6:165343211-165343212	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs1322188	chr6:165343216-165343217	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs550695873	chr6:165343224-165343225	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs138401879	chr6:165343232-165343233	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs533238984	chr6:165343238-165343239	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs184225232	chr6:165343239-165343240	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs9364775	chr6:165343240-165343241	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs534148524	chr6:165343282-165343283	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs9356302	chr6:165343288-165343289	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs558746218	chr6:165343304-165343305	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs141822381	chr6:165343305-165343306	Weak transcription Flanking Active TSS Active TSS Enhancers	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
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
Acute myeloid leukemia	19651601	CNVD
Sudden cardiac death	19188705	CNVD
Myofibroblastic sarcoma	19369631	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:165333200-165346200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:165339600-165342800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:165340800-165344000	Active TSS	Brain Anterior Caudate	brain
4	chr6:165341200-165342600	Active TSS	Brain Germinal Matrix	brain
5	chr6:165341200-165342600	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr6:165341200-165342800	Active TSS	Brain Angular Gyrus	brain
7	chr6:165341200-165342800	Active TSS	Brain Hippocampus Middle	brain
8	chr6:165341200-165343000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr6:165341200-165343200	Active TSS	Fetal Brain Female	brain
10	chr6:165341600-165343200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr6:165341600-165343200	Active TSS	Brain Substantia Nigra	brain
12	chr6:165341800-165343400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
13	chr6:165342200-165342800	Enhancers	Fetal Muscle Trunk	muscle
14	chr6:165342200-165343000	Enhancers	HSMM	muscle
15	chr6:165342200-165343200	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr6:165342200-165343400	Enhancers	Fetal Muscle Leg	muscle
17	chr6:165342400-165342600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr6:165342400-165342600	Enhancers	Brain Cingulate Gyrus	brain
19	chr6:165342600-165342800	Flanking Active TSS	Brain Germinal Matrix	brain
20	chr6:165342600-165343000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
21	chr6:165342600-165343200	Flanking Active TSS	Brain Cingulate Gyrus	brain
22	chr6:165342600-165343200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr6:165342600-165343400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr6:165342800-165343000	Active TSS	Brain Germinal Matrix	brain
25	chr6:165342800-165343200	Flanking Active TSS	Brain Angular Gyrus	brain
26	chr6:165342800-165343400	Flanking Active TSS	Brain Hippocampus Middle	brain
27	chr6:165343000-165343200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr6:165343000-165343400	Flanking Active TSS	Brain Germinal Matrix	brain
29	chr6:165343000-165343400	Active TSS	Brain Inferior Temporal Lobe	brain
30	chr6:165343200-165343400	Enhancers	Brain Cingulate Gyrus	brain
31	chr6:165343200-165343400	Flanking Active TSS	Brain Substantia Nigra	brain
32	chr6:165343200-165347400	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr6:165343400-165343800	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr6:165343400-165343800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr6:165346200-165346600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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