Variant report

Variant	nsv1028764
Chromosome Location	chr6:76870971-77145573
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:76830629..76833133-chr6:77061823..77064593,2	K562	blood:
2	chr6:76985163..76986079-chr6:77060919..77061636,2	MCF-7	breast:
3	chr6:76985498..76986021-chr6:77586428..77587326,2	MCF-7	breast:
4	chr6:76985163..76986079-chr6:77060919..77061636,2	MCF-7	breast:
5	chr6:76644536..76645309-chr6:77060811..77061358,2	MCF-7	breast:
6	chr5:126623922..126624446-chr6:77060801..77061533,2	MCF-7	breast:
7	chr6:76995828..76996453-chr9:120157824..120158612,2	MCF-7	breast:
8	chr6:76948100..76950177-chr6:76951701..76954019,2	MCF-7	breast:
9	chr20:49411019..49411554-chr6:76942200..76943162,2	MCF-7	breast:
10	chr6:76948100..76950177-chr6:76951701..76954019,2	MCF-7	breast:
11	chr6:76644344..76645305-chr6:77060589..77061466,9	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000112706	chromatin interactions
ENSG00000124243	chromatin interactions

Extended variants
information (count: 1372 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:1372 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566993246	chr6:76875204-76875205	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs9447632	chr6:76875268-76875269	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs552385395	chr6:76875293-76875294	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs570648473	chr6:76875294-76875295	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs9447633	chr6:76875297-76875298	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs556192668	chr6:76875298-76875299	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs9443211	chr6:76875311-76875312	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs535100603	chr6:76875316-76875317	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs375433069	chr6:76875317-76875318	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs376634111	chr6:76875330-76875331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571842733	chr6:76875406-76875407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs182039037	chr6:76875407-76875408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs532137684	chr6:76875477-76875478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs565519199	chr6:76875488-76875489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs114855581	chr6:76875499-76875500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs544850205	chr6:76875514-76875515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs9443212	chr6:76875530-76875531	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs530088759	chr6:76875535-76875536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs529539464	chr6:76875540-76875541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs546565388	chr6:76875544-76875545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs560555263	chr6:76875545-76875546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs9443213	chr6:76875546-76875547	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs549594807	chr6:76875549-76875550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs552085354	chr6:76875565-76875566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs184983150	chr6:76875566-76875567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs375493746	chr6:76875570-76875571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs150833141	chr6:76875571-76875572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs570581998	chr6:76875585-76875586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs13218589	chr6:76875592-76875593	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs139240529	chr6:76876014-76876015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs150072988	chr6:76876015-76876016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs12203676	chr6:76876046-76876047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs372658091	chr6:76876079-76876080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs77909398	chr6:76876085-76876086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs118123345	chr6:76876090-76876091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs6900948	chr6:76876104-76876105	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs145387130	chr6:76876111-76876112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs112223162	chr6:76876124-76876125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs75643677	chr6:76876146-76876147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs529197488	chr6:76876196-76876197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs9447638	chr6:76883607-76883608	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs573728050	chr6:76883625-76883626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs541248836	chr6:76883646-76883647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs552978519	chr6:76883656-76883657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs1158295	chr6:76883670-76883671	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs548701585	chr6:76883714-76883715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs566830254	chr6:76883725-76883726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs193278308	chr6:76883733-76883734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs563317080	chr6:76883737-76883738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs371879180	chr6:76883739-76883740	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
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Lung cancer	18438408	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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:76875200-76875400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:76875200-76875400	Weak transcription	Pancreas	Pancrea
3	chr6:76875400-76875600	Enhancers	Pancreas	Pancrea
4	chr6:76876000-76876200	Enhancers	Pancreas	Pancrea
5	chr6:76883600-76884600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr6:76884600-76885000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr6:76885000-76885600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr6:76885600-76888200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr6:76888200-76888800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr6:76929600-76930600	Enhancers	Fetal Brain Female	brain
11	chr6:76929800-76931400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr6:76930000-76930800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr6:76930000-76931000	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr6:76930200-76930800	Enhancers	Brain Anterior Caudate	brain
15	chr6:76930200-76930800	Enhancers	Fetal Brain Male	brain
16	chr6:76930200-76931000	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr6:76931000-76935000	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr6:76934600-76935000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr6:76934600-76935200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr6:76934600-76935200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr6:76934600-76935200	Enhancers	Fetal Lung	lung
22	chr6:76935000-76936600	Enhancers	Pancreatic Islets	Pancreatic Islet
23	chr6:76943800-76944200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr6:76956800-76957200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:76956800-76957200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr6:76957000-76957600	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr6:76957200-76957600	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr6:76957200-76957600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr6:76971200-76971600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr6:76971200-76973800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr6:76972200-76973200	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
32	chr6:76978200-76978600	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr6:76978800-76979800	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr6:77018000-77018200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr6:77036000-77037000	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr6:77036200-77037000	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr6:77036200-77037400	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr6:77036400-77036600	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr6:77036600-77037000	Active TSS	iPS-20b Cell Line	embryonic stem cell
40	chr6:77052200-77052600	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr6:77088800-77089200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr6:77089000-77089400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr6:77110600-77111000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr6:77126600-77126800	Enhancers	Fetal Heart	heart
45	chr6:77126600-77127200	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr6:77126600-77127200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr6:77126800-77127000	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr6:77126800-77127200	Flanking Active TSS	Fetal Heart	heart
49	chr6:77127000-77127200	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr6:77127200-77128000	Enhancers	Fetal Heart	heart

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