Variant report

Variant	nsv519888
Chromosome Location	chr6:29668537-29673483
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:29673185..29674019-chr6:29806166..29806939,2	MCF-7	breast:
2	chr6:29617501..29618041-chr6:29673112..29673633,2	K562	blood:
3	chr6:29673438..29674041-chr6:30098583..30099284,2	MCF-7	breast:
4	chr6:29673331..29674077-chr6:29980846..29981765,3	K562	blood:
5	chr6:29670114..29670993-chr6:29802276..29803394,5	K562	blood:
6	chr10:38965666..38966167-chr6:29670107..29670640,2	MCF-7	breast:
7	chr6:29673244..29674572-chr6:29802335..29803091,3	MCF-7	breast:
8	chr6:29664440..29666391-chr6:29667385..29669684,2	K562	blood:

No data

Extended variants
information (count: 271 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:271 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3129066	chr6:29668537-29668538	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs550110802	chr6:29668538-29668539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs144268468	chr6:29668572-29668573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs117693959	chr6:29668593-29668594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565118141	chr6:29668595-29668596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543689884	chr6:29668607-29668608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs563478852	chr6:29668644-29668645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs3129065	chr6:29668660-29668661	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs548966340	chr6:29668715-29668716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565704044	chr6:29668717-29668718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs528148233	chr6:29668727-29668728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551198139	chr6:29668730-29668731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs186783818	chr6:29668742-29668743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs193293000	chr6:29668745-29668746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs3131873	chr6:29668841-29668842	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs9258102	chr6:29668913-29668914	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs535760358	chr6:29668946-29668947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs9280662	chr6:29668953-29668954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs9258103	chr6:29668958-29668959	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs386698405	chr6:29668984-29668985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs3116800	chr6:29668994-29668995	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs117018127	chr6:29668995-29668996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs3116799	chr6:29669007-29669008	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs558927490	chr6:29669009-29669010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs146568391	chr6:29669046-29669047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs377643305	chr6:29669047-29669048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529178050	chr6:29669048-29669049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548673309	chr6:29669056-29669057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112976538	chr6:29669059-29669060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs528133710	chr6:29669092-29669093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs554205233	chr6:29669112-29669113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs143755983	chr6:29669119-29669120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185398445	chr6:29669121-29669122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs151300430	chr6:29669136-29669137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs9258104	chr6:29669137-29669138	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs9258105	chr6:29669188-29669189	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs535704150	chr6:29669212-29669213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs549273186	chr6:29669213-29669214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs9258106	chr6:29669214-29669215	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs9258107	chr6:29669234-29669235	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs9258108	chr6:29669244-29669245	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs578009992	chr6:29669256-29669257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537575496	chr6:29669265-29669266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs137970568	chr6:29669268-29669269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7748672	chr6:29669275-29669276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs28749532	chr6:29669287-29669288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs143129387	chr6:29669298-29669299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs386698406	chr6:29669306-29669307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs9258110	chr6:29669307-29669308	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs9258111	chr6:29669317-29669318	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:107)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Retinoblastoma	16790693	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
T-cell lymphomas	19863542	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	19571809	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
abnormal development	18461090	CNVD
Breast cancer	21509527	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:29664000-29690600	Weak transcription	Right Atrium	heart
2	chr6:29664800-29670200	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr6:29665000-29670200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr6:29670000-29670200	Bivalent/Poised TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:29670000-29670200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr6:29670000-29670800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr6:29670200-29670400	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr6:29670200-29670400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
9	chr6:29670200-29670400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr6:29670200-29670400	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
11	chr6:29670200-29670600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr6:29670200-29670600	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr6:29670200-29670600	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr6:29670200-29670800	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr6:29670200-29670800	Enhancers	Liver	Liver
16	chr6:29670200-29671000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
17	chr6:29670200-29671000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
18	chr6:29670200-29671000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
19	chr6:29670200-29678200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr6:29670400-29670600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr6:29670400-29670600	Bivalent Enhancer	Brain Hippocampus Middle	brain
22	chr6:29670400-29670800	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr6:29670400-29670800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
24	chr6:29670400-29670800	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
25	chr6:29670400-29671000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr6:29670400-29671000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
27	chr6:29670600-29670800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
28	chr6:29670600-29670800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr6:29670600-29670800	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr6:29670600-29670800	Bivalent Enhancer	Adipose Nuclei	Adipose
31	chr6:29670600-29673200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr6:29670800-29673200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr6:29670800-29673600	Weak transcription	Liver	Liver
34	chr6:29670800-29678200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr6:29671000-29673200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr6:29672200-29673200	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr6:29672200-29673200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr6:29673200-29673400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr6:29673200-29673400	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr6:29673200-29673400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
41	chr6:29673200-29673400	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr6:29673200-29675800	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr6:29673200-29676200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr6:29673200-29676400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr6:29673200-29677000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr6:29673400-29673800	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr6:29673400-29676000	Enhancers	Primary T cells fromperipheralblood	blood
48	chr6:29673400-29676200	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr6:29673400-29676200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr6:29673400-29676400	Enhancers	Primary T helper cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links