Variant report

Variant	nsv516794
Chromosome Location	chr6:128403745-128430506
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:128405823..128408102-chr6:128411407..128413880,2	K562	blood:
2	chr4:106551262..106552190-chr6:128410714..128411291,2	MCF-7	breast:
3	chr6:128417947..128420463-chr6:128424215..128426639,2	K562	blood:
4	chr6:128417947..128420463-chr6:128424215..128426639,2	K562	blood:
5	chr6:128427870..128430111-chr6:128432750..128435472,2	MCF-7	breast:
6	chr6:128412558..128415332-chr6:128836594..128839450,2	MCF-7	breast:
7	chr6:128405823..128408102-chr6:128411407..128413880,2	K562	blood:

Extended variants
information (count: 963 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:963 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17828130	chr6:128403745-128403746	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs543714214	chr6:128403793-128403794	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs561946244	chr6:128403801-128403802	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs574024432	chr6:128403805-128403806	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs137991651	chr6:128403817-128403818	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368029721	chr6:128403826-128403827	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs371789012	chr6:128403860-128403861	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533001123	chr6:128403879-128403880	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs551200546	chr6:128403884-128403885	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563265379	chr6:128403936-128403937	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530405540	chr6:128403962-128403963	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548604698	chr6:128403992-128403993	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567612960	chr6:128403999-128404000	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs149493460	chr6:128404005-128404006	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547125431	chr6:128404014-128404015	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs79298399	chr6:128404018-128404019	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186686984	chr6:128404106-128404107	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558959502	chr6:128404142-128404143	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575725876	chr6:128404155-128404156	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536637364	chr6:128404211-128404212	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs114175118	chr6:128404240-128404241	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs75997749	chr6:128404298-128404299	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541342588	chr6:128404328-128404329	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs559465043	chr6:128404417-128404418	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs577782933	chr6:128404477-128404478	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs540481649	chr6:128404490-128404491	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545215404	chr6:128404519-128404520	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537829134	chr6:128404533-128404534	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369913686	chr6:128404544-128404545	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs191638996	chr6:128404555-128404556	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs548566288	chr6:128404592-128404593	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs9491910	chr6:128404603-128404604	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs549345211	chr6:128404632-128404633	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528723233	chr6:128404637-128404638	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546996265	chr6:128404648-128404649	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571786798	chr6:128404683-128404684	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs142691219	chr6:128404694-128404695	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551194679	chr6:128404714-128404715	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184098334	chr6:128404717-128404718	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536745027	chr6:128404720-128404721	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554959210	chr6:128404739-128404740	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571544520	chr6:128404752-128404753	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188883279	chr6:128404759-128404760	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs41285284	chr6:128404766-128404767	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs538528195	chr6:128404789-128404790	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs552968641	chr6:128404792-128404793	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577903883	chr6:128404804-128404805	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373564711	chr6:128404821-128404822	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181523514	chr6:128404848-128404849	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs141536662	chr6:128404862-128404863	Weak transcription Strong transcription	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:238 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128289000-128431000	Weak transcription	Psoas Muscle	Psoas
2	chr6:128347000-128405200	Weak transcription	Lung	lung
3	chr6:128370000-128412600	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr6:128372400-128412200	Weak transcription	Placenta	Placenta
5	chr6:128374600-128419400	Weak transcription	Esophagus	oesophagus
6	chr6:128375000-128419400	Weak transcription	Gastric	stomach
7	chr6:128375000-128433800	Weak transcription	Aorta	Aorta
8	chr6:128375600-128413000	Weak transcription	Colonic Mucosa	Colon
9	chr6:128379000-128432800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr6:128379400-128412200	Weak transcription	Stomach Smooth Muscle	stomach
11	chr6:128385800-128406400	Weak transcription	Primary T cells from cord blood	blood
12	chr6:128385800-128419400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr6:128388600-128412800	Weak transcription	Fetal Lung	lung
14	chr6:128388800-128407800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr6:128388800-128411600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr6:128389000-128409800	Weak transcription	Thymus	Thymus
17	chr6:128389000-128411400	Weak transcription	Adipose Nuclei	Adipose
18	chr6:128389000-128412800	Weak transcription	NHLF	lung
19	chr6:128389000-128419400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr6:128389000-128419400	Weak transcription	Pancreas	Pancrea
21	chr6:128389600-128407600	Weak transcription	Brain Cingulate Gyrus	brain
22	chr6:128389600-128409200	Weak transcription	Fetal Intestine Small	intestine
23	chr6:128389600-128409200	Weak transcription	Fetal Stomach	stomach
24	chr6:128389600-128409800	Weak transcription	Ovary	ovary
25	chr6:128389600-128410000	Weak transcription	NHEK	skin
26	chr6:128389600-128410600	Weak transcription	Left Ventricle	heart
27	chr6:128389600-128410800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr6:128389600-128417600	Weak transcription	Brain Hippocampus Middle	brain
29	chr6:128389600-128418200	Weak transcription	Brain Substantia Nigra	brain
30	chr6:128389600-128419400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr6:128390200-128412600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr6:128390800-128415000	Weak transcription	NHDF-Ad	bronchial
33	chr6:128390800-128419600	Weak transcription	NH-A	brain
34	chr6:128392800-128405200	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr6:128395400-128417400	Weak transcription	Fetal Heart	heart
36	chr6:128395600-128404800	Weak transcription	Brain Anterior Caudate	brain
37	chr6:128396200-128406800	Strong transcription	HepG2	liver
38	chr6:128397400-128404600	Strong transcription	Liver	Liver
39	chr6:128398600-128412600	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr6:128398800-128419400	Weak transcription	HMEC	breast
41	chr6:128399000-128418000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr6:128399000-128422600	Weak transcription	HUVEC	blood vessel
43	chr6:128399200-128419200	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr6:128399400-128406800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr6:128399400-128417600	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr6:128399600-128405800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr6:128400600-128410600	Weak transcription	Osteobl	bone
48	chr6:128401200-128410800	Weak transcription	HSMMtube	muscle
49	chr6:128401400-128419400	Weak transcription	Small Intestine	intestine
50	chr6:128401400-128431800	Weak transcription	Right Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links