Variant report

Variant	nsv538328
Chromosome Location	chr6:78865540-79002025
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:78871979..78874445-chr6:78875354..78878214,2	K562	blood:
2	chr6:78966571..78967392-chr6:79036188..79036778,2	MCF-7	breast:
3	chr6:78884216..78887143-chr6:79140755..79143140,2	K562	blood:
4	chr6:78922819..78924778-chr6:78931253..78933629,2	K562	blood:
5	chr6:78871979..78874445-chr6:78875354..78878214,2	K562	blood:
6	chr6:78922819..78924778-chr6:78931253..78933629,2	K562	blood:

Extended variants
information (count: 783 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:783 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554185850	chr6:78865552-78865553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs182803471	chr6:78865574-78865575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs534561193	chr6:78865605-78865606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs74325110	chr6:78865686-78865687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs142107145	chr6:78865733-78865734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs562446341	chr6:78865740-78865741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs9361375	chr6:78865773-78865774	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs187271018	chr6:78865812-78865813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs555238586	chr6:78865827-78865828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs190944415	chr6:78865833-78865834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs374658751	chr6:78865840-78865841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs559380176	chr6:78865890-78865891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs9361376	chr6:78865898-78865899	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs183663674	chr6:78865968-78865969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs370746493	chr6:78865984-78865985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs565273354	chr6:78865998-78865999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs544101612	chr6:78866013-78866014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs9448304	chr6:78866052-78866053	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs568662669	chr6:78866057-78866058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs187867387	chr6:78866064-78866065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs567983448	chr6:78866103-78866104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs536810876	chr6:78866126-78866127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs547228174	chr6:78866130-78866131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs9343742	chr6:78866182-78866183	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs549507065	chr6:78866270-78866271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs192291452	chr6:78866271-78866272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs150753187	chr6:78866392-78866393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs139344966	chr6:78866427-78866428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs536668265	chr6:78866442-78866443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs528516815	chr6:78866465-78866466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs6917550	chr6:78866469-78866470	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs571882836	chr6:78866492-78866493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs573605753	chr6:78866493-78866494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs6917255	chr6:78866516-78866517	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs552746357	chr6:78866539-78866540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs572742103	chr6:78866546-78866547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs35681490	chr6:78866674-78866675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs117491703	chr6:78866686-78866687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs565265422	chr6:78866698-78866699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs185031338	chr6:78866734-78866735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs534122119	chr6:78866759-78866760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs544297779	chr6:78866772-78866773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs28523556	chr6:78866785-78866786	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs36058827	chr6:78866834-78866835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs530423171	chr6:78866916-78866917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs67168733	chr6:78867008-78867009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs77967900	chr6:78867057-78867058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs573301929	chr6:78867073-78867074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs377495769	chr6:78867074-78867075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs397887349	chr6:78867080-78867081	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:78863000-78867200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:78867000-78867400	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr6:78867200-78867400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:78867400-78868600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr6:78869200-78869400	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr6:78869400-78869600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:78891000-78891200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr6:78891000-78892000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr6:78891200-78891600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr6:78891600-78892000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr6:78892000-78892200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr6:78899000-78899400	Enhancers	Fetal Intestine Large	intestine
13	chr6:78899400-78899600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr6:78901600-78902000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
15	chr6:78901600-78902200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr6:78901800-78902000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr6:78901800-78902000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
18	chr6:78901800-78902600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
19	chr6:78902000-78902400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
20	chr6:78908600-78908800	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr6:78914200-78914800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr6:78917000-78917400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr6:78922600-78923200	Enhancers	Aorta	Aorta
24	chr6:78927000-78928400	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr6:78927800-78928600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr6:78928200-78928600	Enhancers	Hela-S3	cervix
27	chr6:78931800-78932200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr6:78940400-78941000	Enhancers	Hela-S3	cervix
29	chr6:78940600-78940800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr6:78940600-78941000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr6:78940800-78941000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr6:78941000-78944600	Weak transcription	Hela-S3	cervix
33	chr6:78941200-78943600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr6:78943400-78943600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr6:78943400-78946400	Enhancers	HUVEC	blood vessel
36	chr6:78943600-78943800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr6:78943600-78944200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr6:78943800-78944600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr6:78944000-78944200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr6:78944000-78944400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr6:78944000-78944400	Enhancers	HMEC	breast
42	chr6:78944200-78945600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr6:78944400-78944800	Weak transcription	HMEC	breast
44	chr6:78944600-78945000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr6:78944600-78945800	Enhancers	Hela-S3	cervix
46	chr6:78944600-78946200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr6:78944800-78945600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr6:78944800-78945600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr6:78944800-78945600	Enhancers	HMEC	breast
50	chr6:78944800-78945600	Enhancers	NH-A	brain

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