Variant report

Variant	nsv970344
Chromosome Location	chr6:106662094-106665955
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	chr17:60964482..60966018-chr6:106662776..106664412,2	MCF-7	breast:
2	chr6:106665518..106668104-chr6:106669011..106671673,2	K562	blood:

Extended variants
information (count: 129 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:129 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375174491	chr6:106662096-106662097	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs556568408	chr6:106662195-106662196	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs151183529	chr6:106662264-106662265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs191720608	chr6:106662270-106662271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs78489139	chr6:106662272-106662273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs371287160	chr6:106662276-106662277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs370945021	chr6:106662278-106662279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs555444303	chr6:106662284-106662285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs574257343	chr6:106662341-106662342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs115899515	chr6:106662351-106662352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs375539564	chr6:106662391-106662392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs577113177	chr6:106662399-106662400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs373246467	chr6:106662424-106662425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs545470130	chr6:106662492-106662493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs201513151	chr6:106662505-106662506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs188347089	chr6:106662537-106662538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs79687682	chr6:106662571-106662572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs142897720	chr6:106662572-106662573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs117494489	chr6:106662578-106662579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs561784703	chr6:106662599-106662600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs527875685	chr6:106662619-106662620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs561412031	chr6:106662632-106662633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs192830110	chr6:106662657-106662658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs73522625	chr6:106662676-106662677	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs2245214	chr6:106662741-106662742	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs560891424	chr6:106662764-106662765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs185310810	chr6:106662816-106662817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs569987676	chr6:106662854-106662855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs113324968	chr6:106662909-106662910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs146087962	chr6:106662942-106662943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs549050388	chr6:106662945-106662946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs550441490	chr6:106662959-106662960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs371207293	chr6:106663004-106663005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs533733426	chr6:106663137-106663138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs568709065	chr6:106663167-106663168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs189137764	chr6:106663177-106663178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs576971726	chr6:106663214-106663215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs78360312	chr6:106663262-106663263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs529680762	chr6:106663269-106663270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs118046902	chr6:106663273-106663274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs182023919	chr6:106663345-106663346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs183599828	chr6:106663364-106663365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs138685725	chr6:106663414-106663415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs561746021	chr6:106663435-106663436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs141928246	chr6:106663443-106663444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs528730340	chr6:106663542-106663543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs551666597	chr6:106663559-106663560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs541256470	chr6:106663592-106663593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs371896991	chr6:106663626-106663627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs553982340	chr6:106663647-106663648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:115)

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
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
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Burkitt''s lymphoma	20823134	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
Chronic lymphocytic leukemia	20421269	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Basal cell lymphoma	17170743	CNVD
Prostate cancer	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Developmental delay	21147756	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Autism	17483303	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
abnormal development	18461090	CNVD
Systemic lupus erythematosus	19220326	CNVD
Cancer	17160897	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Acute lymphoblastic leukemia	17229543	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:106626800-106674800	Weak transcription	K562	blood
2	chr6:106628400-106675200	Weak transcription	Stomach Mucosa	stomach
3	chr6:106628800-106671200	Weak transcription	Fetal Intestine Small	intestine
4	chr6:106632000-106664600	Weak transcription	Psoas Muscle	Psoas
5	chr6:106644600-106663000	Weak transcription	Left Ventricle	heart
6	chr6:106645800-106695400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr6:106647400-106695200	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr6:106648600-106663000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr6:106649000-106663000	Weak transcription	NHDF-Ad	bronchial
10	chr6:106649000-106663200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr6:106649200-106695200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr6:106649200-106695400	Weak transcription	HMEC	breast
13	chr6:106649400-106664200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr6:106649400-106682400	Weak transcription	Primary T cells from cord blood	blood
15	chr6:106649600-106663000	Weak transcription	NH-A	brain
16	chr6:106649600-106683000	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr6:106650000-106663800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr6:106650000-106674200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr6:106650000-106674600	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr6:106650000-106695200	Weak transcription	NHEK	skin
21	chr6:106650400-106674800	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr6:106650400-106682600	Weak transcription	Dnd41	blood
23	chr6:106650600-106671600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr6:106653400-106662200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr6:106653400-106662200	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr6:106656200-106662400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr6:106657200-106662200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr6:106657400-106673600	Weak transcription	HSMM	muscle
29	chr6:106657400-106674200	Weak transcription	Primary hematopoietic stem cells	blood
30	chr6:106657400-106675000	Weak transcription	Primary B cells from cord blood	blood
31	chr6:106657800-106683200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr6:106658200-106667800	Weak transcription	GM12878-XiMat	blood
33	chr6:106658200-106689000	Weak transcription	Primary B cells from peripheral blood	blood
34	chr6:106658600-106664600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr6:106661000-106662800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr6:106661400-106662200	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr6:106661400-106662800	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr6:106661600-106662400	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr6:106661600-106662600	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr6:106661800-106662200	Enhancers	Brain Germinal Matrix	brain
41	chr6:106661800-106662800	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr6:106662000-106662200	Enhancers	Brain Hippocampus Middle	brain
43	chr6:106662000-106662200	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr6:106662000-106663200	Enhancers	Fetal Lung	lung
45	chr6:106662200-106662400	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr6:106662200-106662400	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr6:106662200-106662600	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr6:106662400-106683000	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr6:106662800-106671000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr6:106663000-106663200	Enhancers	NH-A	brain

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