Variant report

Variant	nsv1024080
Chromosome Location	chr6:78839526-79003866
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 1173 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:1173 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116014156	chr6:78841093-78841094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs79354975	chr6:78841154-78841155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs543411289	chr6:78841166-78841167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs534791017	chr6:78841201-78841202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs80043058	chr6:78841209-78841210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs144372552	chr6:78841210-78841211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs374437707	chr6:78841246-78841247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs371072332	chr6:78841262-78841263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs62425412	chr6:78841328-78841329	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs563484900	chr6:78841363-78841364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs148800353	chr6:78841366-78841367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs183319737	chr6:78841375-78841376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs34513467	chr6:78841392-78841393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs559600724	chr6:78841431-78841432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs554729393	chr6:78841469-78841470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs528786851	chr6:78841482-78841483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs551530713	chr6:78841516-78841517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs377091452	chr6:78841545-78841546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs565490433	chr6:78841547-78841548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs532846426	chr6:78841596-78841597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs549844849	chr6:78841613-78841614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs548044319	chr6:78841619-78841620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs186951930	chr6:78841620-78841621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs189840206	chr6:78841621-78841622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs111852688	chr6:78841623-78841624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs75795250	chr6:78841638-78841639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs534935991	chr6:78841666-78841667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs557946993	chr6:78841671-78841672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs577769107	chr6:78841695-78841696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs536893671	chr6:78841716-78841717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs115664386	chr6:78841752-78841753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs574082459	chr6:78841762-78841763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs373691254	chr6:78841862-78841863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs551489622	chr6:78841871-78841872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs542588591	chr6:78841896-78841897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs552969948	chr6:78841959-78841960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs112605881	chr6:78841999-78842000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs369871577	chr6:78842058-78842059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs565487001	chr6:78842074-78842075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs199712331	chr6:78842075-78842076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs11968318	chr6:78842101-78842102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs569607703	chr6:78842121-78842122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs544514952	chr6:78842142-78842143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs563375935	chr6:78842149-78842150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs529022364	chr6:78842157-78842158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs9343733	chr6:78842183-78842184	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs377624457	chr6:78842185-78842186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs142249183	chr6:78842187-78842188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs34548587	chr6:78842209-78842210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs397719863	chr6:78842210-78842211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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	22037309	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:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:78841000-78842000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:78841200-78842600	Enhancers	Stomach Mucosa	stomach
3	chr6:78841400-78842000	Enhancers	Pancreas	Pancrea
4	chr6:78841600-78842600	Enhancers	Fetal Intestine Large	intestine
5	chr6:78841600-78842600	Enhancers	HepG2	liver
6	chr6:78841800-78842000	Enhancers	Duodenum Mucosa	Duodenum
7	chr6:78842000-78842600	Weak transcription	Pancreas	Pancrea
8	chr6:78842000-78842800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:78842600-78842800	Enhancers	Pancreas	Pancrea
10	chr6:78842800-78844000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr6:78849400-78852800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr6:78863000-78867200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr6:78863400-78863800	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr6:78863400-78864200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr6:78867000-78867400	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr6:78867200-78867400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr6:78867400-78868600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr6:78869200-78869400	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr6:78869400-78869600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr6:78891000-78891200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr6:78891000-78892000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr6:78891200-78891600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr6:78891600-78892000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr6:78892000-78892200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr6:78899000-78899400	Enhancers	Fetal Intestine Large	intestine
26	chr6:78899400-78899600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr6:78901600-78902000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
28	chr6:78901600-78902200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr6:78901800-78902000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr6:78901800-78902000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
31	chr6:78901800-78902600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
32	chr6:78902000-78902400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
33	chr6:78908600-78908800	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr6:78914200-78914800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr6:78917000-78917400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr6:78922600-78923200	Enhancers	Aorta	Aorta
37	chr6:78927000-78928400	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr6:78927800-78928600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr6:78928200-78928600	Enhancers	Hela-S3	cervix
40	chr6:78931800-78932200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr6:78940400-78941000	Enhancers	Hela-S3	cervix
42	chr6:78940600-78940800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr6:78940600-78941000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr6:78940800-78941000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr6:78941000-78944600	Weak transcription	Hela-S3	cervix
46	chr6:78941200-78943600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr6:78943400-78943600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr6:78943400-78946400	Enhancers	HUVEC	blood vessel
49	chr6:78943600-78943800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr6:78943600-78944200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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