Variant report

Variant	esv3370261
Chromosome Location	chr6:150692709-150694807
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:150693974..150695744-chr6:150700976..150703493,2	K562	blood:
2	chr6:150674133..150675776-chr6:150694464..150696455,2	K562	blood:
3	chr6:150664294..150666420-chr6:150694752..150697036,2	MCF-7	breast:

Extended variants
information (count: 112 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:112 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539337578	chr6:150692709-150692710	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs553161442	chr6:150692745-150692746	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534847187	chr6:150692774-150692775	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572950540	chr6:150692825-150692826	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs369739548	chr6:150692855-150692856	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190197438	chr6:150692889-150692890	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs182383214	chr6:150692944-150692945	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs151216332	chr6:150692978-150692979	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528463106	chr6:150692996-150692997	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563988836	chr6:150693027-150693028	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548589085	chr6:150693036-150693037	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs374315856	chr6:150693063-150693064	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs368448340	chr6:150693069-150693070	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs74454734	chr6:150693233-150693234	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs79900742	chr6:150693306-150693307	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs57538858	chr6:150693312-150693313	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs61253143	chr6:150693347-150693348	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs186110766	chr6:150693374-150693375	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs140401476	chr6:150693384-150693385	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs150391817	chr6:150693405-150693406	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs534627384	chr6:150693410-150693411	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113184222	chr6:150693416-150693417	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553279028	chr6:150693445-150693446	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546861690	chr6:150693464-150693465	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs79962021	chr6:150693469-150693470	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189660193	chr6:150693500-150693501	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs373317750	chr6:150693524-150693525	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs62432481	chr6:150693535-150693536	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs201908006	chr6:150693553-150693554	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs71010892	chr6:150693563-150693564	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs13211576	chr6:150693579-150693580	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs74446166	chr6:150693584-150693585	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs112147707	chr6:150693586-150693587	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs13211582	chr6:150693587-150693588	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs13211583	chr6:150693588-150693589	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs71010893	chr6:150693590-150693591	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs13211588	chr6:150693591-150693592	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376124455	chr6:150693603-150693604	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs566669990	chr6:150693604-150693605	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs13211275	chr6:150693605-150693606	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs13211276	chr6:150693606-150693607	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs13197129	chr6:150693616-150693617	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535250186	chr6:150693620-150693621	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs190561861	chr6:150693625-150693626	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370348679	chr6:150693626-150693627	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs13211608	chr6:150693641-150693642	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183289439	chr6:150693643-150693644	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs13211609	chr6:150693649-150693650	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs13211696	chr6:150693651-150693652	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs13211381	chr6:150693657-150693658	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Autism	21448237	CNVD
Autism	22495311	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
Follicular lymphoma	20505157	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
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
Cancer	17160897	CNVD
Breast cancer	17417639	CNVD
Breast cancer	17850661	CNVD
Renal cell carcinoma	18765545	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Ovarian neoplasms	16753589	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20556506	CNVD
Hirschsprung''s Disease	21712996	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150689200-150693200	Enhancers	Fetal Intestine Large	intestine
2	chr6:150689200-150693400	Enhancers	Fetal Intestine Small	intestine
3	chr6:150691000-150698200	Weak transcription	Stomach Mucosa	stomach
4	chr6:150691600-150700200	Weak transcription	Lung	lung
5	chr6:150691800-150695000	Enhancers	Liver	Liver
6	chr6:150692200-150694600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr6:150692200-150698200	Weak transcription	Duodenum Mucosa	Duodenum
8	chr6:150692400-150695200	Enhancers	Muscle Satellite Cultured Cells	--
9	chr6:150692600-150694000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr6:150692800-150693200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr6:150692800-150695000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr6:150692800-150695400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr6:150692800-150695600	Enhancers	Osteobl	bone
14	chr6:150693000-150693400	Enhancers	NH-A	brain
15	chr6:150693000-150695400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr6:150693000-150695400	Enhancers	NHDF-Ad	bronchial
17	chr6:150693200-150693400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr6:150693200-150694000	Enhancers	Right Atrium	heart
19	chr6:150693200-150698400	Weak transcription	Fetal Intestine Large	intestine
20	chr6:150693400-150693800	Weak transcription	NH-A	brain
21	chr6:150693400-150698000	Weak transcription	Fetal Intestine Small	intestine
22	chr6:150693400-150698400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr6:150693600-150694000	Enhancers	Left Ventricle	heart
24	chr6:150693800-150694000	Enhancers	Brain Hippocampus Middle	brain
25	chr6:150693800-150694000	Enhancers	Fetal Brain Male	brain
26	chr6:150693800-150694400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr6:150693800-150694400	Enhancers	HMEC	breast
28	chr6:150693800-150694600	Enhancers	NH-A	brain
29	chr6:150694000-150694200	Flanking Active TSS	Fetal Brain Male	brain
30	chr6:150694000-150694600	Weak transcription	Right Atrium	heart
31	chr6:150694000-150694800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr6:150694000-150694800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr6:150694000-150694800	Enhancers	Brain Germinal Matrix	brain
34	chr6:150694000-150695000	Enhancers	Brain Cingulate Gyrus	brain
35	chr6:150694000-150695200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr6:150694000-150695600	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr6:150694000-150698200	Weak transcription	Brain Hippocampus Middle	brain
38	chr6:150694200-150694800	Enhancers	Fetal Lung	lung
39	chr6:150694400-150694600	Enhancers	NHLF	lung
40	chr6:150694400-150694800	Enhancers	Adipose Nuclei	Adipose
41	chr6:150694400-150694800	Enhancers	Brain Angular Gyrus	brain
42	chr6:150694400-150694800	Enhancers	Fetal Muscle Leg	muscle
43	chr6:150694600-150694800	Enhancers	Right Atrium	heart
44	chr6:150694600-150695000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr6:150694600-150695000	Enhancers	Right Ventricle	heart
46	chr6:150694800-150695000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr6:150694800-150695600	Weak transcription	Brain Germinal Matrix	brain
48	chr6:150694800-150698200	Weak transcription	Right Atrium	heart
49	chr6:150694800-150698400	Weak transcription	Adipose Nuclei	Adipose
50	chr6:150694800-150698400	Weak transcription	Fetal Lung	lung

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