Variant report

Variant	esv2752094
Chromosome Location	chr6:162507589-162917677
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:38)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:38 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:162525404..162526979-chr6:162529518..162531928,2	MCF-7	breast:
2	chr6:162574333..162576032-chr6:162578404..162580150,2	K562	blood:
3	chr6:162552000..162556573-chr6:162556763..162561114,5	K562	blood:
4	chr6:162820265..162823089-chr6:162827852..162829559,2	K562	blood:
5	chr6:162763017..162765353-chr6:162767098..162769301,2	K562	blood:
6	chr6:162613600..162615384-chr6:162617227..162618872,2	K562	blood:
7	chr3:66689243..66689865-chr6:162514238..162514739,2	MCF-7	breast:
8	chr6:162902802..162905070-chr6:162905406..162907332,2	K562	blood:
9	chr6:162553757..162556831-chr6:162558713..162560436,3	K562	blood:
10	chr6:162620407..162622935-chr6:162623040..162625617,2	K562	blood:
11	chr6:162661286..162663139-chr6:162673530..162675376,2	K562	blood:
12	chr6:162525404..162526979-chr6:162529518..162531928,2	MCF-7	breast:
13	chr6:162643217..162645721-chr6:162646719..162648950,2	K562	blood:
14	chr6:162574333..162576032-chr6:162578404..162580150,2	K562	blood:
15	chr6:162620407..162622935-chr6:162623040..162625617,2	K562	blood:
16	chr6:162768506..162770213-chr6:162786241..162788330,2	K562	blood:
17	chr6:162763017..162765353-chr6:162767098..162769301,2	K562	blood:
18	chr6:162768506..162770213-chr6:162786241..162788330,2	K562	blood:
19	chr6:162666890..162668464-chr6:162670216..162671922,2	K562	blood:
20	chr6:162258059..162258779-chr6:162552660..162553528,2	MCF-7	breast:
21	chr6:162799485..162803733-chr6:162804296..162807777,5	K562	blood:
22	chr6:162820265..162823089-chr6:162827852..162829559,2	K562	blood:
23	chr6:162500411..162502828-chr6:162504694..162507642,2	K562	blood:
24	chr6:162671180..162673472-chr6:162808694..162811227,2	K562	blood:
25	chr6:162436271..162438282-chr6:162512437..162514970,2	K562	blood:
26	chr6:162553757..162556831-chr6:162558713..162560436,3	K562	blood:
27	chr6:162721411..162723925-chr6:162726328..162729326,2	K562	blood:
28	chr6:162902802..162905070-chr6:162905406..162907332,2	K562	blood:
29	chr6:162721411..162723925-chr6:162726328..162729326,2	K562	blood:
30	chr6:162666890..162668464-chr6:162670216..162671922,2	K562	blood:
31	chr6:162661286..162663139-chr6:162673530..162675376,2	K562	blood:
32	chr6:162643217..162645721-chr6:162646719..162648950,2	K562	blood:
33	chr6:162863367..162864320-chr6:163157771..163158572,4	MCF-7	breast:
34	chr6:162863816..162864618-chr6:163271757..163272511,2	MCF-7	breast:
35	chr6:162799485..162803733-chr6:162804296..162807777,5	K562	blood:
36	chr6:162613600..162615384-chr6:162617227..162618872,2	K562	blood:
37	chr6:162552000..162556573-chr6:162556763..162561114,5	K562	blood:
38	chr6:162671180..162673472-chr6:162808694..162811227,2	K562	blood:

No data

Extended variants
information (count: 16631 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:16631 , 50 per page) page: 1 2 3 4 5 6 7 ... 333

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113603447	chr6:162507598-162507599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs560875123	chr6:162507612-162507613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs1893551	chr6:162507690-162507691	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs111513251	chr6:162507708-162507709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs567468584	chr6:162507726-162507727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs192254447	chr6:162507747-162507748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs560351953	chr6:162507754-162507755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs534549761	chr6:162507801-162507802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs532238502	chr6:162507809-162507810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs184994879	chr6:162507813-162507814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs147552544	chr6:162507820-162507821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs546850482	chr6:162507842-162507843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs550518006	chr6:162507870-162507871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs60374123	chr6:162507871-162507872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs1893550	chr6:162507875-162507876	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs62436045	chr6:162507879-162507880	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs553086222	chr6:162507885-162507886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs142088654	chr6:162507935-162507936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs537696358	chr6:162507947-162507948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs556939922	chr6:162507949-162507950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs60321739	chr6:162507997-162507998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs548196341	chr6:162508021-162508022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs569752388	chr6:162508039-162508040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs575806073	chr6:162508092-162508093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs575307562	chr6:162508147-162508148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs71567633	chr6:162508194-162508195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs182624023	chr6:162511445-162511446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs528885823	chr6:162511469-162511470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs548663035	chr6:162511524-162511525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs565806573	chr6:162511623-162511624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs142841527	chr6:162511657-162511658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs552323713	chr6:162511681-162511682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs6928713	chr6:162511693-162511694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs111622227	chr6:162511705-162511706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs537338937	chr6:162511727-162511728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs147399851	chr6:162511741-162511742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs191686782	chr6:162511795-162511796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs530421031	chr6:162511810-162511811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs576504657	chr6:162511826-162511827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs112426470	chr6:162511835-162511836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs535892633	chr6:162511839-162511840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs117802834	chr6:162511848-162511849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs572457410	chr6:162511919-162511920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs541189347	chr6:162511930-162511931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs183982848	chr6:162511953-162511954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs376541390	chr6:162511975-162511976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs150565783	chr6:162511989-162511990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs578134368	chr6:162511991-162511992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs543685251	chr6:162512011-162512012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs7766005	chr6:162512023-162512024	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:108)

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
Cancer	20164920	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	20838587	CNVD
Early-onset parkinson disease	21993715	CNVD
Glioblastoma	18772890	CNVD
Pancreatic cancer	20981101	CNVD
Autism	21360662	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Intellectual disability	22102821	CNVD
Parkinson disease	0	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21720365	CNVD
Parkinson disease	21829596	CNVD
Schizophrenia	23813976	CNVD
Gastric cancer	22315472	CNVD
Autism	19404257	CNVD
Schizophrenia	20967226	CNVD
Schizophrenia	21346763	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Attention deficit hyperactivity disorder	19546859	CNVD
Autism	22495309	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian cancer	22355333	CNVD
Schizophrenia	19805367	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:1336 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:162507400-162508200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:162511400-162512400	Enhancers	Muscle Satellite Cultured Cells	--
3	chr6:162511400-162512600	Enhancers	HMEC	breast
4	chr6:162511400-162512600	Enhancers	HSMMtube	muscle
5	chr6:162511400-162512800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr6:162511400-162512800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr6:162511400-162512800	Enhancers	HSMM	muscle
8	chr6:162511400-162512800	Enhancers	NHDF-Ad	bronchial
9	chr6:162511600-162512200	Enhancers	A549	lung
10	chr6:162511600-162512200	Enhancers	NHEK	skin
11	chr6:162511600-162512400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr6:162511600-162512600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr6:162511600-162512800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr6:162511600-162512800	Enhancers	NH-A	brain
15	chr6:162512000-162512400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr6:162512000-162512800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr6:162513600-162514800	Enhancers	Fetal Heart	heart
18	chr6:162513600-162524800	Weak transcription	Ovary	ovary
19	chr6:162514800-162515400	Enhancers	Pancreas	Pancrea
20	chr6:162514800-162517600	Weak transcription	Aorta	Aorta
21	chr6:162517600-162517800	ZNF genes & repeats	Aorta	Aorta
22	chr6:162517800-162525600	Weak transcription	Aorta	Aorta
23	chr6:162518800-162521600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr6:162520000-162521800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr6:162520200-162521000	Enhancers	NH-A	brain
26	chr6:162520200-162521400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr6:162520200-162521400	Enhancers	HMEC	breast
28	chr6:162520200-162521400	Enhancers	NHDF-Ad	bronchial
29	chr6:162520200-162521600	Enhancers	Muscle Satellite Cultured Cells	--
30	chr6:162520400-162521200	Enhancers	A549	lung
31	chr6:162520400-162521400	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr6:162520400-162521400	Enhancers	NHEK	skin
33	chr6:162520400-162521600	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr6:162520400-162521600	Enhancers	HSMM	muscle
35	chr6:162520600-162521200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr6:162520800-162521200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr6:162521000-162521400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr6:162521000-162521400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr6:162521000-162521400	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr6:162521000-162521400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr6:162521000-162521400	Enhancers	HSMMtube	muscle
42	chr6:162521000-162521400	Flanking Active TSS	NH-A	brain
43	chr6:162521000-162521400	Enhancers	Osteobl	bone
44	chr6:162521800-162527600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr6:162524800-162525200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr6:162524800-162525200	Enhancers	Ovary	ovary
47	chr6:162524800-162525400	Enhancers	Gastric	stomach
48	chr6:162525200-162539800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr6:162527600-162528000	Enhancers	H9 Cell Line	embryonic stem cell
50	chr6:162527600-162528000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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