Variant report

Variant	esv2762630
Chromosome Location	chr6:165798068-165806114
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 339 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:339 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572280	chr6:165798068-165798069	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs568631835	chr6:165798077-165798078	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs371992613	chr6:165798099-165798100	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs12175507	chr6:165798109-165798110	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs201724914	chr6:165798119-165798120	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs57175607	chr6:165798120-165798121	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs369299852	chr6:165798121-165798122	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs3799161	chr6:165798124-165798125	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs569356995	chr6:165798136-165798137	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs529618528	chr6:165798156-165798157	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs142528828	chr6:165798158-165798159	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs112501379	chr6:165798161-165798162	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs13202475	chr6:165798175-165798176	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs572166781	chr6:165798191-165798192	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs13205683	chr6:165798195-165798196	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs536674821	chr6:165798281-165798282	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs558521035	chr6:165798292-165798293	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs547485656	chr6:165798346-165798347	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs185888483	chr6:165798400-165798401	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs75044793	chr6:165798407-165798408	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs141480104	chr6:165798422-165798423	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs16897780	chr6:165798443-165798444	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs115231237	chr6:165798452-165798453	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs150815309	chr6:165798493-165798494	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs575475626	chr6:165798569-165798570	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs533273003	chr6:165798626-165798627	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs545927321	chr6:165798649-165798650	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs191183465	chr6:165798660-165798661	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs528589030	chr6:165798714-165798715	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs182084850	chr6:165798744-165798745	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs562291850	chr6:165798748-165798749	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs139258282	chr6:165798762-165798763	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs551274116	chr6:165798764-165798765	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs551181319	chr6:165798767-165798768	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs144270150	chr6:165798824-165798825	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs16897782	chr6:165798851-165798852	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
37	rs220807	chr6:165798894-165798895	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs375807743	chr6:165798940-165798941	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs9457084	chr6:165798963-165798964	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs570379258	chr6:165798980-165798981	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs187193872	chr6:165799005-165799006	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs546253278	chr6:165799006-165799007	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs220806	chr6:165799038-165799039	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
44	rs535291558	chr6:165799087-165799088	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs117696853	chr6:165799105-165799106	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs554052690	chr6:165799148-165799149	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs575493551	chr6:165799171-165799172	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs191986364	chr6:165799200-165799201	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs182896364	chr6:165799214-165799215	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187618518	chr6:165799215-165799216	Weak transcription Strong 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
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
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
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:165744800-165801200	Weak transcription	Hela-S3	cervix
2	chr6:165745600-165802800	Weak transcription	Fetal Heart	heart
3	chr6:165747400-165802600	Weak transcription	HSMMtube	muscle
4	chr6:165747600-165853000	Weak transcription	A549	lung
5	chr6:165764400-165813400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:165772000-165835800	Weak transcription	Fetal Kidney	kidney
7	chr6:165776200-165798800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr6:165779800-165805000	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr6:165787400-165813400	Weak transcription	Fetal Lung	lung
10	chr6:165788000-165798400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr6:165788000-165856800	Weak transcription	Fetal Muscle Trunk	muscle
12	chr6:165788400-165803600	Weak transcription	Fetal Stomach	stomach
13	chr6:165789400-165798200	Weak transcription	Fetal Brain Male	brain
14	chr6:165790000-165810600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr6:165790200-165831400	Weak transcription	Fetal Muscle Leg	muscle
16	chr6:165790400-165804000	Weak transcription	Aorta	Aorta
17	chr6:165790400-165811400	Weak transcription	Ovary	ovary
18	chr6:165791400-165834000	Weak transcription	Brain Anterior Caudate	brain
19	chr6:165791600-165798800	Weak transcription	Fetal Brain Female	brain
20	chr6:165793000-165798200	Weak transcription	Left Ventricle	heart
21	chr6:165794000-165807400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr6:165795200-165799600	Strong transcription	HSMM	muscle
23	chr6:165795200-165801000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr6:165795800-165804000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr6:165796000-165813400	Weak transcription	Brain Germinal Matrix	brain
26	chr6:165796400-165823000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr6:165796800-165806400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr6:165797200-165807600	Weak transcription	Brain Hippocampus Middle	brain
29	chr6:165797400-165800600	Weak transcription	Right Ventricle	heart
30	chr6:165797600-165798400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr6:165797600-165799200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr6:165797800-165809800	Weak transcription	Stomach Smooth Muscle	stomach
33	chr6:165798000-165803600	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr6:165798000-165804400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr6:165798200-165798400	ZNF genes & repeats	Fetal Brain Male	brain
36	chr6:165798200-165804400	Strong transcription	Left Ventricle	heart
37	chr6:165798400-165799000	Strong transcription	Fetal Brain Male	brain
38	chr6:165798400-165799200	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr6:165798400-165802600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr6:165798800-165802000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr6:165798800-165804400	Strong transcription	Fetal Brain Female	brain
42	chr6:165799000-165817600	Weak transcription	Fetal Brain Male	brain
43	chr6:165799200-165801600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr6:165799200-165805800	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr6:165799200-165808600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr6:165799200-165811800	Weak transcription	Brain Angular Gyrus	brain
47	chr6:165799600-165800400	Weak transcription	HSMM	muscle
48	chr6:165800400-165807600	Strong transcription	HSMM	muscle
49	chr6:165800600-165801000	Strong transcription	Right Ventricle	heart
50	chr6:165801000-165802600	Weak transcription	Right Ventricle	heart

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