Variant report

Variant	esv2756012
Chromosome Location	chr6:102428797-102489159
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:102368803..102370851-chr6:102488591..102491392,2	K562	blood:
2	chr6:102423740..102426359-chr6:102431274..102433245,2	K562	blood:
3	chr6:102467652..102469278-chr6:102473178..102474761,2	MCF-7	breast:
4	chr6:102427557..102429881-chr6:102433659..102436642,2	MCF-7	breast:
5	chr6:102476206..102478938-chr6:102479367..102481927,2	MCF-7	breast:
6	chr6:102451733..102454626-chr6:102454747..102456750,2	MCF-7	breast:
7	chr6:102469224..102471750-chr6:102472091..102474956,2	K562	blood:
8	chr6:102451733..102454626-chr6:102454747..102456750,2	MCF-7	breast:
9	chr6:102467652..102469278-chr6:102473178..102474761,2	MCF-7	breast:
10	chr6:102476206..102478938-chr6:102479367..102481927,2	MCF-7	breast:
11	chr6:102469224..102471750-chr6:102472091..102474956,2	K562	blood:
12	chr6:102427557..102429881-chr6:102433659..102436642,2	MCF-7	breast:

No data

Extended variants
information (count: 591 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:591 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546725198	chr6:102435846-102435847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs370867978	chr6:102435847-102435848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs9498795	chr6:102435914-102435915	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs6921637	chr6:102435971-102435972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs79590370	chr6:102435998-102435999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs200692183	chr6:102436000-102436001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs57491735	chr6:102436001-102436002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs202003362	chr6:102436002-102436003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs112299589	chr6:102436008-102436009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs6938092	chr6:102436009-102436010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs149449205	chr6:102436010-102436011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs112022328	chr6:102436011-102436012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs111306667	chr6:102436013-102436014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs58124605	chr6:102436016-102436017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs144690410	chr6:102436022-102436023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs9322626	chr6:102436031-102436032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs551491885	chr6:102436034-102436035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs6936827	chr6:102436036-102436037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs537496220	chr6:102436064-102436065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs564380590	chr6:102436135-102436136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs555488481	chr6:102436145-102436146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs564092653	chr6:102436146-102436147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs531868853	chr6:102436254-102436255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs112789860	chr6:102436293-102436294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs77719656	chr6:102436326-102436327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs192612983	chr6:102436338-102436339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs368690164	chr6:102436339-102436340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs74362088	chr6:102436349-102436350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs545102243	chr6:102436360-102436361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs142049679	chr6:102436365-102436366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs549838123	chr6:102436443-102436444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs575121594	chr6:102436493-102436494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs572711864	chr6:102440246-102440247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs147097476	chr6:102440290-102440291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs560293493	chr6:102440299-102440300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs527929144	chr6:102440340-102440341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs371261189	chr6:102440360-102440361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs534683048	chr6:102440412-102440413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs145341107	chr6:102440421-102440422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs114911076	chr6:102440422-102440423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs187912178	chr6:102440457-102440458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs549483633	chr6:102440501-102440502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs568061650	chr6:102440508-102440509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs576689047	chr6:102440509-102440510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs554134226	chr6:102440572-102440573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs577555503	chr6:102440611-102440612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs192824099	chr6:102440632-102440633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs373246744	chr6:102440680-102440681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs557989749	chr6:102440709-102440710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs577386696	chr6:102440714-102440715	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:110)

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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	CNVD
Gastric cancer	17908304	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
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	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
Ependymoma	16718352	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
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
small cell lung cancer	20016488	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17170743	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21785460	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Myelofibrosis	22110671	CNVD
Obesity	21045960	CNVD
Liver carcinoma	19366792	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Urothelial carcinoma	21177765	CNVD
Autism	22543975	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:102435800-102436600	Enhancers	Fetal Heart	heart
2	chr6:102440200-102441200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr6:102461400-102461800	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr6:102463000-102471400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr6:102463600-102463800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:102464600-102465200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr6:102470400-102471000	Enhancers	Hela-S3	cervix
8	chr6:102471400-102471800	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr6:102471800-102472600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr6:102472600-102474000	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr6:102474000-102475200	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr6:102486200-102487200	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr6:102486600-102487600	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr6:102486800-102487400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr6:102486800-102487400	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr6:102487000-102487400	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr6:102487000-102487600	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr6:102487000-102487600	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr6:102487200-102487600	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr6:102487400-102487800	Active TSS	Stomach Smooth Muscle	stomach
21	chr6:102487600-102487800	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr6:102487600-102491200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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