Variant report

Variant	esv2763956
Chromosome Location	chr6:110394513-110413237
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:110400293..110402395-chr6:110404111..110406019,2	K562	blood:
2	chr6:110400293..110402395-chr6:110404111..110406019,2	K562	blood:
3	chr6:110393980..110396773-chr6:110396779..110399595,3	K562	blood:
4	chr6:110397087..110399467-chr6:110408778..110410725,2	K562	blood:
5	chr6:110397087..110399467-chr6:110408778..110410725,2	K562	blood:
6	chr6:110393980..110396773-chr6:110396779..110399595,3	K562	blood:

Extended variants
information (count: 621 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:621 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9374153	chr6:110394518-110394519	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs539542665	chr6:110394528-110394529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs555987421	chr6:110394529-110394530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557218242	chr6:110394644-110394645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs149858907	chr6:110394648-110394649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs144884451	chr6:110394676-110394677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs139834784	chr6:110394680-110394681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs571966925	chr6:110394685-110394686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541048021	chr6:110394815-110394816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185178142	chr6:110394851-110394852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs112384581	chr6:110394897-110394898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs543538237	chr6:110394982-110394983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563074894	chr6:110394986-110394987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs370082428	chr6:110395026-110395027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543352903	chr6:110395048-110395049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531898490	chr6:110395060-110395061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113891677	chr6:110395083-110395084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190334544	chr6:110395159-110395160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs527966119	chr6:110395191-110395192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561118099	chr6:110395258-110395259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs570754462	chr6:110395310-110395311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs367948496	chr6:110395396-110395397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs140319910	chr6:110395412-110395413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs549823301	chr6:110395441-110395442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs9487302	chr6:110395556-110395557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528497062	chr6:110395573-110395574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs569532729	chr6:110395575-110395576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs145472182	chr6:110395577-110395578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs367723713	chr6:110395589-110395590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555120636	chr6:110395690-110395691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs111710886	chr6:110395703-110395704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565998857	chr6:110395704-110395705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs573722244	chr6:110395740-110395741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534603560	chr6:110395754-110395755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200007208	chr6:110395790-110395791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12214192	chr6:110395791-110395792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533638800	chr6:110395825-110395826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559020485	chr6:110395829-110395830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs60533207	chr6:110395830-110395831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182599799	chr6:110395862-110395863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187637228	chr6:110395869-110395870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs537150886	chr6:110395881-110395882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561977956	chr6:110395928-110395929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs191796314	chr6:110395984-110395985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs62435898	chr6:110395987-110395988	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs562136594	chr6:110396041-110396042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs114116758	chr6:110396173-110396174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs151003479	chr6:110396185-110396186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113658905	chr6:110396189-110396190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs9386877	chr6:110396191-110396192	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:115)

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
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
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20067559	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
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	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
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Basal cell lymphoma	17170743	CNVD
Prostate cancer	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Autism	17483303	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
abnormal development	18461090	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Systemic lupus erythematosus	19220326	CNVD
Cancer	17160897	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Acute lymphoblastic leukemia	17229543	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Mental retardation	17621639	CNVD
Intellectual disability	22102821	CNVD
Bipolar disorder	19114987	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:110390000-110405200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:110391200-110398000	Weak transcription	Fetal Heart	heart
3	chr6:110396200-110396800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr6:110396200-110397000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr6:110396200-110397000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr6:110396200-110397200	Enhancers	HMEC	breast
7	chr6:110396400-110397000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr6:110396800-110397000	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr6:110396800-110397200	Enhancers	NHEK	skin
10	chr6:110397000-110398200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr6:110397000-110412800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr6:110397000-110415400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr6:110397800-110398000	Enhancers	HSMMtube	muscle
14	chr6:110398000-110398400	Enhancers	Fetal Heart	heart
15	chr6:110398000-110398600	Enhancers	Right Ventricle	heart
16	chr6:110400800-110401200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:110401000-110401200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr6:110401200-110405200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr6:110401800-110402800	Enhancers	Primary B cells from peripheral blood	blood
20	chr6:110402400-110402600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr6:110402600-110402800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr6:110402800-110414400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr6:110402800-110419800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr6:110404600-110406800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr6:110405000-110405400	Enhancers	NHDF-Ad	bronchial
26	chr6:110405000-110405600	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr6:110405000-110405600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr6:110405000-110405800	Enhancers	Ovary	ovary
29	chr6:110405000-110405800	Enhancers	HepG2	liver
30	chr6:110405000-110406000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr6:110405200-110405400	Enhancers	Colon Smooth Muscle	Colon
32	chr6:110405200-110405600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr6:110405200-110405800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr6:110405200-110405800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr6:110405200-110406000	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr6:110405400-110405600	Enhancers	Fetal Kidney	kidney
37	chr6:110405400-110405800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr6:110405400-110418000	Weak transcription	Colon Smooth Muscle	Colon
39	chr6:110405600-110422800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr6:110405800-110408000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr6:110405800-110412600	Weak transcription	Fetal Kidney	kidney
42	chr6:110405800-110417200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr6:110405800-110422800	Weak transcription	Ovary	ovary
44	chr6:110406000-110408000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr6:110408000-110408200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr6:110408000-110409400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr6:110408800-110418400	Weak transcription	Fetal Stomach	stomach
48	chr6:110409200-110409400	Enhancers	GM12878-XiMat	blood
49	chr6:110409400-110410400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr6:110409400-110414800	Weak transcription	NHEK	skin

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