Variant report

Variant	esv3354843
Chromosome Location	chr6:128765959-128767257
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:128764883..128766764-chr6:128769188..128770820,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182404	chromatin interactions

Extended variants
information (count: 28 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs117437681	chr6:128765977-128765978	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs147968248	chr6:128765991-128765992	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs561625709	chr6:128766144-128766145	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs534424876	chr6:128766196-128766197	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs546318908	chr6:128766237-128766238	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs571008649	chr6:128766246-128766247	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs538290130	chr6:128766271-128766272	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs556501263	chr6:128766321-128766322	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs73589587	chr6:128766324-128766325	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs199827591	chr6:128766343-128766344	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs376362524	chr6:128766346-128766347	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs200604162	chr6:128766353-128766354	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs56739735	chr6:128766354-128766355	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs536517625	chr6:128766370-128766371	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs60837644	chr6:128766408-128766409	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs555162372	chr6:128766807-128766808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs573392207	chr6:128766808-128766809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs112260543	chr6:128766832-128766833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs192288499	chr6:128766879-128766880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs184817503	chr6:128766904-128766905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs577407339	chr6:128767015-128767016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs544626313	chr6:128767021-128767022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs138444933	chr6:128767036-128767037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs79714756	chr6:128767072-128767073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs371956972	chr6:128767089-128767090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs550351893	chr6:128767209-128767210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs17459522	chr6:128767225-128767226	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs528318499	chr6:128767227-128767228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
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
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
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
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21785460	CNVD
Neurocytoma	17123091	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Metastatic melanoma	18483359	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Ependymoma	18628472	CNVD
Ewing''s sarcoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	21958427	CNVD
Mental retardation	17847001	CNVD
Cancer	17440070	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	21364760	CNVD
Glioblastoma multiforme	21390271	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128740800-128777000	Weak transcription	Fetal Intestine Small	intestine
2	chr6:128753200-128777000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:128754800-128767000	Weak transcription	NHEK	skin
4	chr6:128756400-128776600	Weak transcription	Fetal Intestine Large	intestine
5	chr6:128758800-128766600	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr6:128759800-128767200	Weak transcription	HMEC	breast
7	chr6:128759800-128767400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr6:128759800-128786800	Weak transcription	Left Ventricle	heart
9	chr6:128760000-128766800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:128760000-128767000	Weak transcription	Fetal Brain Female	brain
11	chr6:128760200-128769800	Weak transcription	Brain Angular Gyrus	brain
12	chr6:128760800-128767400	Weak transcription	Brain Anterior Caudate	brain
13	chr6:128761400-128775600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr6:128761400-128778000	Weak transcription	Small Intestine	intestine
15	chr6:128762800-128767200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr6:128762800-128774800	Weak transcription	Ovary	ovary
17	chr6:128763000-128771800	Weak transcription	Fetal Kidney	kidney
18	chr6:128763200-128773200	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr6:128763600-128767000	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr6:128763600-128775200	Weak transcription	Psoas Muscle	Psoas
21	chr6:128763800-128767000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr6:128764000-128766600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr6:128764800-128766000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr6:128764800-128766000	Enhancers	Rectal Smooth Muscle	rectum
25	chr6:128765000-128766800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr6:128765400-128769200	Weak transcription	Gastric	stomach
27	chr6:128765600-128766000	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr6:128765600-128767400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr6:128765600-128775200	Weak transcription	Pancreas	Pancrea
30	chr6:128765800-128766000	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr6:128765800-128777000	Weak transcription	HepG2	liver
32	chr6:128766000-128767200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr6:128766800-128767600	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr6:128766800-128768000	Enhancers	Fetal Brain Male	brain
35	chr6:128766800-128768200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr6:128767000-128767200	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr6:128767000-128767400	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr6:128767000-128767800	Enhancers	Fetal Brain Female	brain
39	chr6:128767000-128767800	Enhancers	NHEK	skin
40	chr6:128767000-128768000	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr6:128767200-128767600	Enhancers	HMEC	breast
42	chr6:128767200-128768000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr6:128767200-128768000	Enhancers	Brain Germinal Matrix	brain
44	chr6:128767200-128768400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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