Variant report

Variant	esv2422275
Chromosome Location	chr6:162049757-162202795
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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:162057469..162059362-chr6:162068678..162070292,2	K562	blood:
2	chr6:161813445..161815530-chr6:162115453..162117705,2	MCF-7	breast:
3	chr6:162135808..162138276-chr6:162142475..162145172,2	K562	blood:
4	chr6:162080897..162083173-chr6:162084992..162086582,2	K562	blood:
5	chr6:162052847..162055292-chr6:162059575..162062461,2	MCF-7	breast:
6	chr6:162115124..162116676-chr6:162119287..162121862,2	K562	blood:
7	chr6:162041107..162043997-chr6:162053743..162055556,2	K562	blood:
8	chr6:162056640..162058918-chr6:162062226..162064429,2	K562	blood:
9	chr6:162064140..162064803-chr7:123198816..123199394,2	MCF-7	breast:
10	chr6:162080897..162083173-chr6:162084992..162086582,2	K562	blood:
11	chr6:162111336..162114011-chr6:162137192..162139483,2	K562	blood:
12	chr6:162052847..162055292-chr6:162059575..162062461,2	MCF-7	breast:
13	chr6:162039551..162040468-chr6:162115665..162116674,7	MCF-7	breast:
14	chr6:162056640..162058918-chr6:162062226..162064429,2	K562	blood:
15	chr20:46012429..46013123-chr6:162169752..162170322,2	MCF-7	breast:
16	chr19:35885081..35886581-chr6:162062521..162064392,2	K562	blood:
17	chr6:162135808..162138276-chr6:162142475..162145172,2	K562	blood:
18	chr6:162057469..162059362-chr6:162068678..162070292,2	K562	blood:
19	chr6:162075282..162077598-chr6:162078551..162080758,2	K562	blood:
20	chr6:162111336..162114011-chr6:162137192..162139483,2	K562	blood:
21	chr6:162115124..162116676-chr6:162119287..162121862,2	K562	blood:
22	chr6:162075282..162077598-chr6:162078551..162080758,2	K562	blood:

No data

Extended variants
information (count: 6004 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:6004 , 50 per page) page: 1 2 3 4 5 6 7 ... 121

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73782956	chr6:162049761-162049762	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs558198748	chr6:162049771-162049772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs559682657	chr6:162049810-162049811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs539353775	chr6:162049813-162049814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs557833537	chr6:162049846-162049847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556417117	chr6:162049849-162049850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs576195818	chr6:162049882-162049883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541988501	chr6:162049899-162049900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561520490	chr6:162049929-162049930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs143778825	chr6:162049964-162049965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs577767645	chr6:162049992-162049993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs563744164	chr6:162050064-162050065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs532938391	chr6:162050116-162050117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181377592	chr6:162050125-162050126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543802135	chr6:162050156-162050157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs148131961	chr6:162050206-162050207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs79477519	chr6:162050219-162050220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs142015431	chr6:162050290-162050291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs116375496	chr6:162050300-162050301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528604679	chr6:162050316-162050317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs2144208	chr6:162050324-162050325	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs571713272	chr6:162050347-162050348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537441155	chr6:162050355-162050356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556215232	chr6:162050393-162050394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs569958940	chr6:162050398-162050399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs12211755	chr6:162050435-162050436	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs138813505	chr6:162050443-162050444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs571863248	chr6:162050494-162050495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs146298189	chr6:162050551-162050552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs544431220	chr6:162050556-162050557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs557422673	chr6:162050557-162050558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs577602012	chr6:162050566-162050567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs543383990	chr6:162050567-162050568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs373318870	chr6:162050579-162050580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs563108920	chr6:162050612-162050613	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139322454	chr6:162050664-162050665	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs377350162	chr6:162050717-162050718	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543302223	chr6:162050718-162050719	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs559989545	chr6:162050725-162050726	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs528691885	chr6:162050726-162050727	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs80035959	chr6:162050735-162050736	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12213314	chr6:162050740-162050741	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs9458320	chr6:162050754-162050755	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs184575391	chr6:162050799-162050800	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs567513609	chr6:162050800-162050801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs535641182	chr6:162050875-162050876	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs535744313	chr6:162050888-162050889	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555241193	chr6:162050913-162050914	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs149581990	chr6:162050914-162050915	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534494324	chr6:162050927-162050928	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
Bipolar disorder	19114987	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:421 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:162040400-162052000	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr6:162048000-162051600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr6:162048000-162052000	Weak transcription	Colon Smooth Muscle	Colon
4	chr6:162050400-162050600	Enhancers	Right Atrium	heart
5	chr6:162050600-162051000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:162050600-162052000	Weak transcription	Right Atrium	heart
7	chr6:162051000-162051400	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr6:162051000-162060600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:162051400-162052800	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr6:162051600-162052000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr6:162051600-162052000	Enhancers	Muscle Satellite Cultured Cells	--
12	chr6:162051600-162052000	Enhancers	NHDF-Ad	bronchial
13	chr6:162051600-162052800	Enhancers	HSMMtube	muscle
14	chr6:162051600-162053400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr6:162051600-162053400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr6:162051600-162053400	Enhancers	Fetal Muscle Leg	muscle
17	chr6:162051600-162053400	Enhancers	Stomach Smooth Muscle	stomach
18	chr6:162051800-162052200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr6:162051800-162052200	Enhancers	Esophagus	oesophagus
20	chr6:162051800-162052400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr6:162051800-162052600	Enhancers	NHLF	lung
22	chr6:162051800-162052800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr6:162051800-162053200	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr6:162051800-162053400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr6:162051800-162053400	Enhancers	Fetal Stomach	stomach
26	chr6:162052000-162052200	Enhancers	Fetal Muscle Trunk	muscle
27	chr6:162052000-162052400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
28	chr6:162052000-162052600	Enhancers	Right Atrium	heart
29	chr6:162052000-162052600	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr6:162052000-162052600	Flanking Active TSS	NHDF-Ad	bronchial
31	chr6:162052000-162053000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr6:162052000-162053200	Enhancers	Adipose Nuclei	Adipose
33	chr6:162052000-162053400	Enhancers	Colon Smooth Muscle	Colon
34	chr6:162052000-162053400	Enhancers	HSMM	muscle
35	chr6:162052000-162053600	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr6:162052000-162053600	Enhancers	Rectal Smooth Muscle	rectum
37	chr6:162052000-162053600	Enhancers	NH-A	brain
38	chr6:162052200-162052400	Enhancers	Fetal Lung	lung
39	chr6:162052200-162053200	Enhancers	Fetal Kidney	kidney
40	chr6:162052400-162052800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr6:162052400-162052800	Enhancers	Muscle Satellite Cultured Cells	--
42	chr6:162052400-162053000	Weak transcription	Fetal Lung	lung
43	chr6:162052400-162053200	Enhancers	Brain Germinal Matrix	brain
44	chr6:162052400-162055200	Weak transcription	Fetal Muscle Trunk	muscle
45	chr6:162052600-162054000	Enhancers	NHDF-Ad	bronchial
46	chr6:162052800-162053000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
47	chr6:162052800-162053200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr6:162052800-162053200	Flanking Active TSS	HSMMtube	muscle
49	chr6:162052800-162053600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr6:162052800-162053600	Enhancers	Cortex derived primary cultured neurospheres	brain

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