Variant report

Variant	esv2762627
Chromosome Location	chr6:163343020-163370028
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 344 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:344 , 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	rs538242255	chr6:163343022-163343023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs118126501	chr6:163343056-163343057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs574898070	chr6:163343062-163343063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs150041223	chr6:163343145-163343146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs554470721	chr6:163343187-163343188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs531080929	chr6:163343206-163343207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs577345273	chr6:163343279-163343280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs546412496	chr6:163343315-163343316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs562239471	chr6:163343322-163343323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs575683588	chr6:163343354-163343355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs541533721	chr6:163343356-163343357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs144320182	chr6:163343387-163343388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs192861444	chr6:163343430-163343431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs28863850	chr6:163343453-163343454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs564438188	chr6:163343464-163343465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs111572277	chr6:163343523-163343524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs532975027	chr6:163343526-163343527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs527538276	chr6:163343531-163343532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs185831833	chr6:163343544-163343545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs569872548	chr6:163343575-163343576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs141030624	chr6:163343671-163343672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs549149565	chr6:163343676-163343677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs548716709	chr6:163343692-163343693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs1514331	chr6:163343709-163343710	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs114119466	chr6:163343742-163343743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs554155051	chr6:163343842-163343843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs577512490	chr6:163343845-163343846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs62427523	chr6:163343847-163343848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs556297531	chr6:163343857-163343858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs551168601	chr6:163343866-163343867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs556216608	chr6:163343906-163343907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs35412722	chr6:163343934-163343935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs147888604	chr6:163343971-163343972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs76446153	chr6:163344027-163344028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs532773777	chr6:163344031-163344032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs551395019	chr6:163344052-163344053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs112760622	chr6:163344071-163344072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs541060117	chr6:163344095-163344096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs569644584	chr6:163344110-163344111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs538612829	chr6:163344173-163344174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs564222519	chr6:163344201-163344202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs190355165	chr6:163344206-163344207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs141532060	chr6:163344306-163344307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs73605867	chr6:163344315-163344316	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs529123569	chr6:163344341-163344342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs548680928	chr6:163344366-163344367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs553612845	chr6:163344369-163344370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs2090112	chr6:163357277-163357278	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs9784845	chr6:163357309-163357310	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs191974099	chr6:163357329-163357330	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian cancer	22355333	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163341400-163343400	Enhancers	Fetal Stomach	stomach
2	chr6:163342200-163343200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr6:163342200-163343400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr6:163343000-163344400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr6:163343200-163344000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr6:163357200-163357400	ZNF genes & repeats	Brain Cingulate Gyrus	brain
7	chr6:163357200-163359200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr6:163357400-163358000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr6:163358600-163358800	Weak transcription	Spleen	Spleen
10	chr6:163359200-163362000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr6:163361000-163361200	Enhancers	Brain Substantia Nigra	brain
12	chr6:163361000-163361400	Enhancers	Brain Anterior Caudate	brain
13	chr6:163361200-163361400	Enhancers	Brain Hippocampus Middle	brain
14	chr6:163361200-163361600	Flanking Active TSS	Brain Substantia Nigra	brain
15	chr6:163361200-163362400	Active TSS	Brain Angular Gyrus	brain
16	chr6:163361400-163361800	Flanking Active TSS	Brain Hippocampus Middle	brain
17	chr6:163361400-163362200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr6:163361400-163362200	Active TSS	Brain Inferior Temporal Lobe	brain
19	chr6:163361400-163362400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr6:163361400-163362400	Enhancers	Fetal Brain Male	brain
21	chr6:163361400-163362400	Enhancers	Fetal Lung	lung
22	chr6:163361400-163362600	Active TSS	Brain Anterior Caudate	brain
23	chr6:163361400-163362600	Enhancers	Fetal Heart	heart
24	chr6:163361600-163361800	Enhancers	NHDF-Ad	bronchial
25	chr6:163361600-163362000	Active TSS	Brain Cingulate Gyrus	brain
26	chr6:163361600-163362200	Active TSS	Brain Substantia Nigra	brain
27	chr6:163361600-163362400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr6:163361600-163362600	Enhancers	Left Ventricle	heart
29	chr6:163361600-163364400	Enhancers	Fetal Intestine Small	intestine
30	chr6:163361800-163362200	Active TSS	NHDF-Ad	bronchial
31	chr6:163361800-163362400	Active TSS	Brain Hippocampus Middle	brain
32	chr6:163362000-163362600	Enhancers	Brain Cingulate Gyrus	brain
33	chr6:163362000-163362600	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr6:163362000-163362800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr6:163362000-163363400	Enhancers	Fetal Intestine Large	intestine
36	chr6:163362200-163362600	Enhancers	H1 Cell Line	embryonic stem cell
37	chr6:163362200-163362600	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr6:163362200-163362600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
39	chr6:163362200-163362600	Flanking Active TSS	Brain Substantia Nigra	brain
40	chr6:163362200-163362600	Flanking Active TSS	NHDF-Ad	bronchial
41	chr6:163362200-163363000	Enhancers	Brain Germinal Matrix	brain
42	chr6:163362400-163362600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr6:163362400-163362600	Flanking Active TSS	Brain Angular Gyrus	brain
44	chr6:163362400-163362600	Flanking Active TSS	Brain Hippocampus Middle	brain
45	chr6:163362400-163362600	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr6:163362400-163362800	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr6:163362400-163362800	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr6:163362400-163363200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr6:163362400-163363200	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr6:163362400-163363200	Enhancers	Rectal Mucosa Donor 31	rectum

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