Variant report

Variant	nsv604262
Chromosome Location	chr6:100661336-100701917
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:32)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:32 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:100657510..100660117-chr6:100663357..100665972,2	MCF-7	breast:
2	chr6:100623345..100625127-chr6:100676726..100678390,2	MCF-7	breast:
3	chr6:100674376..100676928-chr6:100720727..100722530,2	K562	blood:
4	chr6:100679897..100681706-chr6:100686386..100688057,2	K562	blood:
5	chr6:100683791..100686416-chr6:100690104..100691994,2	K562	blood:
6	chr6:100653503..100656101-chr6:100657508..100661952,4	K562	blood:
7	chr6:100675649..100678323-chr6:100706693..100708384,2	K562	blood:
8	chr6:100667522..100670093-chr6:100673930..100678606,4	K562	blood:
9	chr6:100677679..100679724-chr6:100693665..100695877,2	K562	blood:
10	chr6:100678985..100681308-chr6:100704669..100708291,4	K562	blood:
11	chr6:100679897..100681706-chr6:100686386..100688057,2	K562	blood:
12	chr6:100668525..100671500-chr6:100671584..100673777,2	K562	blood:
13	chr6:100671535..100674999-chr6:100676735..100678390,3	K562	blood:
14	chr6:100679763..100681397-chr6:100682604..100684636,2	MCF-7	breast:
15	chr6:100675649..100678406-chr6:100706884..100708922,2	K562	blood:
16	chr6:100679763..100681397-chr6:100682604..100684636,2	MCF-7	breast:
17	chr6:100678673..100681754-chr6:100683277..100685673,3	K562	blood:
18	chr6:100671535..100676020-chr6:100676735..100678390,4	K562	blood:
19	chr6:100698877..100701745-chr6:100703701..100705218,2	K562	blood:
20	chr6:100671535..100676020-chr6:100676735..100678390,4	K562	blood:
21	chr6:100677679..100679724-chr6:100693665..100695877,2	K562	blood:
22	chr6:100683791..100686416-chr6:100690104..100691994,2	K562	blood:
23	chr6:100671535..100674999-chr6:100676735..100678390,3	K562	blood:
24	chr6:100690867..100695024-chr6:100698971..100702832,3	MCF-7	breast:
25	chr6:100690867..100695024-chr6:100698971..100702832,3	MCF-7	breast:
26	chr6:100663880..100666479-chr6:100667174..100669855,2	MCF-7	breast:
27	chr6:100676458..100678188-chr6:100705698..100707425,2	MCF-7	breast:
28	chr6:100678673..100681754-chr6:100683277..100685673,3	K562	blood:
29	chr6:100668525..100671500-chr6:100671584..100673777,2	K562	blood:
30	chr6:100679808..100682581-chr6:100705982..100708291,2	K562	blood:
31	chr6:100667522..100670093-chr6:100673930..100678606,4	K562	blood:
32	chr6:100663880..100666479-chr6:100667174..100669855,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000216378	chromatin interactions

Extended variants
information (count: 1146 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:1146 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9484823	chr6:100661336-100661337	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs563157732	chr6:100661363-100661364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531185729	chr6:100661401-100661402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs542959300	chr6:100661415-100661416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs9399465	chr6:100661466-100661467	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs145931341	chr6:100661480-100661481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs547097288	chr6:100661527-100661528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs571806523	chr6:100661540-100661541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557897953	chr6:100661544-100661545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs372485766	chr6:100661573-100661574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs139819451	chr6:100661613-100661614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550926080	chr6:100661637-100661638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs11962795	chr6:100661656-100661657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577804558	chr6:100661658-100661659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs569162826	chr6:100661659-100661660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537311984	chr6:100661663-100661664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575392984	chr6:100661681-100661682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555415226	chr6:100661716-100661717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs186005300	chr6:100661723-100661724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534541203	chr6:100661724-100661725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552764932	chr6:100661756-100661757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs577289381	chr6:100661767-100661768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191149982	chr6:100661798-100661799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575170692	chr6:100661807-100661808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181871287	chr6:100661849-100661850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186431576	chr6:100661893-100661894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541993906	chr6:100661905-100661906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540798018	chr6:100661910-100661911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576774863	chr6:100662032-100662033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532605213	chr6:100662044-100662045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550805986	chr6:100662089-100662090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190346217	chr6:100662126-100662127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530085966	chr6:100662136-100662137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549243749	chr6:100662139-100662140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs567189393	chr6:100662148-100662149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534623710	chr6:100662165-100662166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs143250350	chr6:100662180-100662181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs571116903	chr6:100662206-100662207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372799820	chr6:100662209-100662210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs145526657	chr6:100662269-100662270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556822882	chr6:100662282-100662283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs148769129	chr6:100662283-100662284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs368655027	chr6:100662284-100662285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539702070	chr6:100662311-100662312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200929442	chr6:100662444-100662445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs67378579	chr6:100662445-100662446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371943812	chr6:100662453-100662454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs75171824	chr6:100662454-100662455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200963902	chr6:100662459-100662460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574018473	chr6:100662461-100662462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

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
Endometrioid adenocarcinoma	16974079	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
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	17443227	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
Leukemia	18688285	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
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
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	17640729	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
Chronic lymphocytic leukemia	20421269	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17170743	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21785460	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Myelofibrosis	22110671	CNVD
Obesity	21045960	CNVD
Liver carcinoma	19366792	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:438 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:100658400-100665400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr6:100658800-100662200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:100660200-100661400	Enhancers	HUVEC	blood vessel
4	chr6:100660400-100661400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr6:100660400-100666200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr6:100660800-100664600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr6:100661200-100665200	Weak transcription	NHDF-Ad	bronchial
8	chr6:100664600-100665600	Enhancers	Muscle Satellite Cultured Cells	--
9	chr6:100664600-100668400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:100665200-100665800	Enhancers	NHDF-Ad	bronchial
11	chr6:100665400-100665600	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr6:100666200-100666400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr6:100666200-100666400	Enhancers	Aorta	Aorta
14	chr6:100666400-100668000	Weak transcription	Aorta	Aorta
15	chr6:100668200-100668400	Enhancers	Aorta	Aorta
16	chr6:100672800-100673200	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr6:100673800-100674400	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr6:100674400-100675600	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr6:100674600-100676400	Enhancers	HUVEC	blood vessel
20	chr6:100674800-100676200	Enhancers	K562	blood
21	chr6:100675600-100676200	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr6:100675800-100676200	Enhancers	GM12878-XiMat	blood
23	chr6:100675800-100676400	Enhancers	Fetal Intestine Large	intestine
24	chr6:100676000-100676200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr6:100676000-100676200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr6:100676000-100676200	Enhancers	Rectal Mucosa Donor 29	rectum
27	chr6:100676000-100676200	Enhancers	NHEK	skin
28	chr6:100676000-100676400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr6:100676000-100676400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr6:100676000-100676600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr6:100676000-100676600	Enhancers	NHLF	lung
32	chr6:100676000-100676800	Active TSS	Fetal Brain Male	brain
33	chr6:100676000-100677600	Enhancers	Fetal Heart	heart
34	chr6:100676200-100676400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr6:100676200-100676400	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr6:100676200-100676400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
37	chr6:100676200-100676400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr6:100676200-100676400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr6:100676200-100676400	Enhancers	Primary B cells from peripheral blood	blood
40	chr6:100676200-100676400	Bivalent Enhancer	Primary T cells from cord blood	blood
41	chr6:100676200-100676400	Enhancers	Muscle Satellite Cultured Cells	--
42	chr6:100676200-100676400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr6:100676200-100676400	Enhancers	Liver	Liver
44	chr6:100676200-100676400	Enhancers	Brain Germinal Matrix	brain
45	chr6:100676200-100676400	Enhancers	Brain Hippocampus Middle	brain
46	chr6:100676200-100676400	Enhancers	Brain Substantia Nigra	brain
47	chr6:100676200-100676400	Enhancers	Fetal Intestine Small	intestine
48	chr6:100676200-100676400	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr6:100676200-100676400	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr6:100676200-100676400	Enhancers	A549	lung

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