Variant report

Variant	esv16561
Chromosome Location	chr6:128432770-128437573
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	chr6:128427870..128430111-chr6:128432750..128435472,2	MCF-7	breast:

Extended variants
information (count: 164 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:164 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573351823	chr6:128432773-128432774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs192890674	chr6:128432780-128432781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs565393259	chr6:128432905-128432906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs545935292	chr6:128432918-128432919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs183206067	chr6:128432957-128432958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs544642120	chr6:128432960-128432961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs374588800	chr6:128433006-128433007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs563233359	chr6:128433008-128433009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs139834923	chr6:128433010-128433011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs548748525	chr6:128433066-128433067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs368358283	chr6:128433141-128433142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs528306585	chr6:128433169-128433170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs149656214	chr6:128433199-128433200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs564605594	chr6:128433233-128433234	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs115419765	chr6:128433241-128433242	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs550634114	chr6:128433284-128433285	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs569552932	chr6:128433364-128433365	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs536973244	chr6:128433383-128433384	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs145867829	chr6:128433411-128433412	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs34477139	chr6:128433424-128433425	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs188570738	chr6:128433447-128433448	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs192968560	chr6:128433448-128433449	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs376643446	chr6:128433458-128433459	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs184593777	chr6:128433477-128433478	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs577309261	chr6:128433523-128433524	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs544184865	chr6:128433532-128433533	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs556169011	chr6:128433571-128433572	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs574517177	chr6:128433625-128433626	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs557088900	chr6:128433632-128433633	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs148998130	chr6:128433644-128433645	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs10457505	chr6:128433666-128433667	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs536539719	chr6:128433695-128433696	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs528224967	chr6:128433701-128433702	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs540465290	chr6:128433720-128433721	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs564817897	chr6:128433752-128433753	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs553286727	chr6:128433770-128433771	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs562028800	chr6:128433795-128433796	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs187780947	chr6:128433822-128433823	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs550572531	chr6:128433850-128433851	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs4897244	chr6:128433864-128433865	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs529728319	chr6:128433880-128433881	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs529571121	chr6:128433895-128433896	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs567202580	chr6:128433896-128433897	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs534123484	chr6:128433907-128433908	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs142966704	chr6:128433930-128433931	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs192550642	chr6:128433951-128433952	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs4895830	chr6:128433961-128433962	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs147726479	chr6:128433967-128433968	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs574453896	chr6:128433981-128433982	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs376061714	chr6:128434040-128434041	Weak transcription Active TSS Flanking Active TSS 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
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:206 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128375000-128433800	Weak transcription	Aorta	Aorta
2	chr6:128379000-128432800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr6:128401800-128433600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr6:128404000-128438000	Weak transcription	Fetal Thymus	thymus
5	chr6:128406600-128433000	Weak transcription	Duodenum Mucosa	Duodenum
6	chr6:128411000-128433600	Weak transcription	HSMMtube	muscle
7	chr6:128411200-128433800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr6:128411200-128433800	Weak transcription	Fetal Stomach	stomach
9	chr6:128411200-128433800	Weak transcription	Ovary	ovary
10	chr6:128411600-128445600	Weak transcription	HepG2	liver
11	chr6:128419800-128434800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr6:128419800-128455600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr6:128424800-128432800	Weak transcription	Fetal Intestine Small	intestine
14	chr6:128425000-128452600	Weak transcription	Primary B cells from peripheral blood	blood
15	chr6:128425200-128433600	Weak transcription	Right Atrium	heart
16	chr6:128425200-128435200	Weak transcription	Gastric	stomach
17	chr6:128428000-128452000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr6:128431400-128433800	Enhancers	Brain Substantia Nigra	brain
19	chr6:128431800-128432800	Weak transcription	Brain Cingulate Gyrus	brain
20	chr6:128431800-128433400	Enhancers	Liver	Liver
21	chr6:128431800-128433800	Enhancers	Fetal Heart	heart
22	chr6:128432000-128433400	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr6:128432000-128433600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr6:128432000-128433600	Enhancers	Colon Smooth Muscle	Colon
25	chr6:128432200-128432800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr6:128432200-128433400	Enhancers	Brain Anterior Caudate	brain
27	chr6:128432200-128433600	Weak transcription	Psoas Muscle	Psoas
28	chr6:128432200-128433600	Weak transcription	Right Ventricle	heart
29	chr6:128432200-128433800	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr6:128432200-128433800	Weak transcription	Fetal Brain Male	brain
31	chr6:128432200-128448200	Weak transcription	Primary B cells from cord blood	blood
32	chr6:128432400-128433400	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr6:128432400-128433600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr6:128432400-128433600	Enhancers	Brain Hippocampus Middle	brain
35	chr6:128432400-128433600	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr6:128432400-128433800	Enhancers	Fetal Lung	lung
37	chr6:128432600-128433200	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr6:128432600-128433200	Weak transcription	Brain Angular Gyrus	brain
39	chr6:128432600-128433600	Weak transcription	Stomach Smooth Muscle	stomach
40	chr6:128432800-128433000	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr6:128432800-128433200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr6:128432800-128433400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr6:128432800-128433600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr6:128432800-128433600	Enhancers	Fetal Intestine Small	intestine
45	chr6:128432800-128433800	Enhancers	Brain Cingulate Gyrus	brain
46	chr6:128433000-128433400	Enhancers	Fetal Intestine Large	intestine
47	chr6:128433000-128433400	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr6:128433000-128433600	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr6:128433000-128433600	Enhancers	Duodenum Mucosa	Duodenum
50	chr6:128433200-128433600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links