Variant report

Variant	nsv604491
Chromosome Location	chr6:110396540-110412259
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 527 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:527 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1381688	chr6:110396540-110396541	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs544596161	chr6:110396545-110396546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs2069259	chr6:110396570-110396571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs369150097	chr6:110396651-110396652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs555933707	chr6:110396656-110396657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs1462490	chr6:110396676-110396677	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs377524647	chr6:110396756-110396757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs541728748	chr6:110396760-110396761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs9374154	chr6:110396767-110396768	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs577893770	chr6:110396810-110396811	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs543444183	chr6:110396814-110396815	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs138718165	chr6:110396889-110396890	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs529390444	chr6:110396967-110396968	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs143000524	chr6:110396979-110396980	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200791326	chr6:110397063-110397064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs73765657	chr6:110397133-110397134	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs73533834	chr6:110397285-110397286	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs551674132	chr6:110397304-110397305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs73765660	chr6:110397318-110397319	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs62435899	chr6:110397338-110397339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs34010747	chr6:110397339-110397340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs374688835	chr6:110397340-110397341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs397780879	chr6:110397352-110397353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs537334331	chr6:110397380-110397381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs183659796	chr6:110397453-110397454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs567227004	chr6:110397456-110397457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs536364624	chr6:110397526-110397527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs552761739	chr6:110397545-110397546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs566285808	chr6:110397572-110397573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs534933086	chr6:110397573-110397574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs549499343	chr6:110397633-110397634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs558313012	chr6:110397649-110397650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs73765661	chr6:110397665-110397666	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs543700550	chr6:110397666-110397667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs556939806	chr6:110397690-110397691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs138404825	chr6:110397719-110397720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs143962533	chr6:110397756-110397757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs566030439	chr6:110397829-110397830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs528572109	chr6:110397853-110397854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs9400360	chr6:110397864-110397865	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs565070614	chr6:110397876-110397877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs116536670	chr6:110397927-110397928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs550856021	chr6:110397940-110397941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs558188765	chr6:110397965-110397966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs567288284	chr6:110398022-110398023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs144325572	chr6:110398025-110398026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs546555384	chr6:110398053-110398054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs148779587	chr6:110398071-110398072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs538714795	chr6:110398072-110398073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs557974444	chr6:110398095-110398096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	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:59 , 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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