Variant report

Variant	nsv886225
Chromosome Location	chr6:78269161-78378014
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:78357150..78359352-chr6:78388533..78390499,2	K562	blood:
2	chr6:78347135..78348863-chr6:78349405..78351353,2	MCF-7	breast:
3	chr14:72967087..72967625-chr6:78275153..78275939,2	MCF-7	breast:
4	chr4:114314248..114314920-chr6:78343402..78344219,2	MCF-7	breast:
5	chr6:78329435..78332100-chr6:78332327..78334902,2	MCF-7	breast:
6	chr12:52445725..52446473-chr6:78274346..78274848,2	Hela-S3	cervix:
7	chr6:78356313..78359113-chr6:78364118..78365918,2	MCF-7	breast:
8	chr6:78347135..78348863-chr6:78349405..78351353,2	MCF-7	breast:
9	chr6:78356313..78359113-chr6:78364118..78365918,2	MCF-7	breast:
10	chr6:78329435..78332100-chr6:78332327..78334902,2	MCF-7	breast:

No data

Extended variants
information (count: 1324 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:1324 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574378214	chr6:78269608-78269609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs538398649	chr6:78269622-78269623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs376201260	chr6:78269623-78269624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs548380685	chr6:78269632-78269633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs568366685	chr6:78269652-78269653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs370828615	chr6:78269653-78269654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs534265001	chr6:78269667-78269668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs192632136	chr6:78269704-78269705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs572832802	chr6:78269719-78269720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs201641701	chr6:78269720-78269721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs184948088	chr6:78269722-78269723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs143813832	chr6:78269739-78269740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs573002919	chr6:78269775-78269776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs544382869	chr6:78269779-78269780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs541567889	chr6:78271743-78271744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs553558474	chr6:78271812-78271813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs564571359	chr6:78271815-78271816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs77033760	chr6:78271871-78271872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs11964597	chr6:78271928-78271929	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs199794287	chr6:78271958-78271959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs191233736	chr6:78271976-78271977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs531297803	chr6:78271982-78271983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs548217439	chr6:78271998-78271999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs568113152	chr6:78272068-78272069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558811175	chr6:78272128-78272129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs146209614	chr6:78272154-78272155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547558926	chr6:78272157-78272158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs374923597	chr6:78272162-78272163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs577252599	chr6:78272167-78272168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs544326974	chr6:78272197-78272198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539700157	chr6:78272215-78272216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs75840395	chr6:78272220-78272221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs181666325	chr6:78272232-78272233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs185950241	chr6:78272237-78272238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs898041	chr6:78272248-78272249	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs113727367	chr6:78272309-78272310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575221355	chr6:78272321-78272322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs373384725	chr6:78272322-78272323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572205771	chr6:78272347-78272348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs55796908	chr6:78272356-78272357	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs564679401	chr6:78272420-78272421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544585100	chr6:78272458-78272459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190567809	chr6:78272520-78272521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183486960	chr6:78272559-78272560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs75504544	chr6:78272656-78272657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs139140786	chr6:78272679-78272680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560690771	chr6:78272716-78272717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs529612274	chr6:78272801-78272802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs118004837	chr6:78272804-78272805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs114434163	chr6:78272808-78272809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
Ductal carcinoma	22052326	CNVD
Breast cancer	21990379	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:148 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:78269600-78269800	Enhancers	Left Ventricle	heart
2	chr6:78271600-78272000	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr6:78272000-78273000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr6:78273000-78273600	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr6:78273200-78273600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr6:78273200-78273800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr6:78273800-78277800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr6:78277800-78278400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr6:78277800-78278600	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr6:78278000-78278600	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr6:78278200-78278600	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr6:78283400-78284400	Enhancers	Fetal Heart	heart
13	chr6:78307200-78317600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr6:78327400-78327600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr6:78333800-78335200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr6:78333800-78335200	Enhancers	Fetal Lung	lung
17	chr6:78336000-78336200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr6:78343400-78344200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr6:78343400-78344400	Enhancers	NH-A	brain
20	chr6:78343600-78344400	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr6:78343800-78344400	Enhancers	Placenta Amnion	Placenta Amnion
22	chr6:78349400-78350400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr6:78350400-78353800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr6:78353600-78354400	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr6:78353800-78354400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr6:78353800-78354600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr6:78353800-78354600	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr6:78353800-78355000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr6:78353800-78355000	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr6:78354400-78355600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr6:78354400-78355600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr6:78354600-78355400	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr6:78355000-78362400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr6:78355400-78356000	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr6:78355600-78356000	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr6:78355600-78356200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
37	chr6:78355800-78356200	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr6:78356000-78359400	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr6:78356000-78359600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr6:78356200-78359200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr6:78356200-78359800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr6:78358200-78359400	Enhancers	Pancreatic Islets	Pancreatic Islet
43	chr6:78358600-78359200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr6:78358600-78359400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr6:78358800-78359000	Enhancers	Fetal Intestine Small	intestine
46	chr6:78358800-78359600	Enhancers	Fetal Heart	heart
47	chr6:78358800-78359800	Enhancers	Placenta Amnion	Placenta Amnion
48	chr6:78359000-78359800	Weak transcription	Fetal Intestine Small	intestine
49	chr6:78359200-78359400	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr6:78359200-78359400	Flanking Active TSS	Primary hematopoietic stem cells	blood

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