Variant report

Variant	esv2754906
Chromosome Location	chr6:78932402-79026686
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:78966571..78967392-chr6:79036188..79036778,2	MCF-7	breast:
2	chr6:78922819..78924778-chr6:78931253..78933629,2	K562	blood:

Extended variants
information (count: 566 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:566 , 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	rs113171745	chr6:78940441-78940442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs533621880	chr6:78940464-78940465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs370923432	chr6:78940505-78940506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs551978847	chr6:78940506-78940507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs550645495	chr6:78940530-78940531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs568943721	chr6:78940545-78940546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs531164491	chr6:78940555-78940556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs10080806	chr6:78940564-78940565	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs567982592	chr6:78940579-78940580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs73462112	chr6:78940585-78940586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs114920349	chr6:78940611-78940612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs111484460	chr6:78940618-78940619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs539658340	chr6:78940644-78940645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs556339952	chr6:78940655-78940656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs13212747	chr6:78940686-78940687	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs187078499	chr6:78940697-78940698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs138086714	chr6:78940713-78940714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs143632763	chr6:78940727-78940728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs147208651	chr6:78940743-78940744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs374391870	chr6:78940744-78940745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs533324657	chr6:78940745-78940746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs62425457	chr6:78940746-78940747	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs556547598	chr6:78940774-78940775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs562217653	chr6:78940844-78940845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs531324407	chr6:78940851-78940852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs10080866	chr6:78940860-78940861	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs567694694	chr6:78940867-78940868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs12528105	chr6:78940881-78940882	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs547363809	chr6:78940882-78940883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs370299519	chr6:78940883-78940884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs139616370	chr6:78940942-78940943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs563862815	chr6:78940972-78940973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs75320020	chr6:78941070-78941071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs116550623	chr6:78941080-78941081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs191665642	chr6:78941088-78941089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs183071827	chr6:78941093-78941094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576644084	chr6:78941128-78941129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188475574	chr6:78941148-78941149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs367740395	chr6:78941151-78941152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555944855	chr6:78941192-78941193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549559873	chr6:78941257-78941258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs371786630	chr6:78941261-78941262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs75018734	chr6:78941274-78941275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs193150019	chr6:78941320-78941321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185659315	chr6:78941366-78941367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558122338	chr6:78941391-78941392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs564111547	chr6:78941425-78941426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189322492	chr6:78941450-78941451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs543620341	chr6:78941480-78941481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs563527759	chr6:78941483-78941484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:107)

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
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Lung cancer	18438408	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
Prostate cancer	16573809	CNVD
Breast cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Developmental delay	21147756	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Salivary gland tumor	18059337	CNVD
Lung cancer	16773561	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial cell carcinoma	18451213	CNVD
Prostate cancer	16461572	CNVD
Mental retardation	21045960	CNVD
Obesity	21045960	CNVD
learning difficulties	21045960	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
Ductal carcinoma	22052326	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
early-passage human iPS cells	21368824	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Cancer	21272361	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:78940400-78941000	Enhancers	Hela-S3	cervix
2	chr6:78940600-78940800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:78940600-78941000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:78940800-78941000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr6:78941000-78944600	Weak transcription	Hela-S3	cervix
6	chr6:78941200-78943600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr6:78943400-78943600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr6:78943400-78946400	Enhancers	HUVEC	blood vessel
9	chr6:78943600-78943800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr6:78943600-78944200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr6:78943800-78944600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr6:78944000-78944200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr6:78944000-78944400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr6:78944000-78944400	Enhancers	HMEC	breast
15	chr6:78944200-78945600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr6:78944400-78944800	Weak transcription	HMEC	breast
17	chr6:78944600-78945000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr6:78944600-78945800	Enhancers	Hela-S3	cervix
19	chr6:78944600-78946200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr6:78944800-78945600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr6:78944800-78945600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr6:78944800-78945600	Enhancers	HMEC	breast
23	chr6:78944800-78945600	Enhancers	NH-A	brain
24	chr6:78945000-78945600	Enhancers	NHEK	skin
25	chr6:78949000-78949400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr6:78949400-78949600	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr6:78953000-78953400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr6:78953000-78953600	Enhancers	HUVEC	blood vessel
29	chr6:78962600-78963000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr6:78962600-78963000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr6:78962600-78963000	Enhancers	HMEC	breast
32	chr6:78962600-78963000	Enhancers	NHEK	skin
33	chr6:78962800-78963600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr6:78974800-78975200	Enhancers	Aorta	Aorta
35	chr6:78977000-78977400	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr6:78977000-78977400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr6:78983200-78984200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr6:78999800-79000600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr6:79000000-79000400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr6:79010400-79011000	Enhancers	HMEC	breast
41	chr6:79011000-79012000	Weak transcription	HMEC	breast
42	chr6:79012200-79012400	Enhancers	HMEC	breast
43	chr6:79017800-79018000	ZNF genes & repeats	Aorta	Aorta
44	chr6:79018000-79020400	Weak transcription	Aorta	Aorta

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