Variant report

Variant	nsv970310
Chromosome Location	chr6:12462217-12471915
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	chr6:12290193..12292493-chr6:12469740..12471285,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000078401	chromatin interactions

Extended variants
information (count: 375 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:375 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540491987	chr6:12462274-12462275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs79508432	chr6:12462290-12462291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs573458099	chr6:12462292-12462293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs542713018	chr6:12462308-12462309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs562687899	chr6:12462354-12462355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs572644407	chr6:12462363-12462364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs146243087	chr6:12462387-12462388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs551521177	chr6:12462412-12462413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs376199892	chr6:12462449-12462450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs369521860	chr6:12462463-12462464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs544655726	chr6:12462472-12462473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs138910862	chr6:12462484-12462485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs528001406	chr6:12462502-12462503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs570031200	chr6:12462519-12462520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs548037905	chr6:12462547-12462548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs192233832	chr6:12462634-12462635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536796572	chr6:12462680-12462681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550395541	chr6:12462681-12462682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564927377	chr6:12462683-12462684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569014413	chr6:12462693-12462694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs537916913	chr6:12462700-12462701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs529444275	chr6:12462717-12462718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557490626	chr6:12462721-12462722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12200522	chr6:12462723-12462724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs533852229	chr6:12462726-12462727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373092320	chr6:12462760-12462761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs553983675	chr6:12462769-12462770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184808854	chr6:12462777-12462778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs187909927	chr6:12462821-12462822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375822182	chr6:12462928-12462929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576159884	chr6:12462943-12462944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545459254	chr6:12462972-12462973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536343339	chr6:12462977-12462978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs376899238	chr6:12462983-12462984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs565153803	chr6:12463028-12463029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550468776	chr6:12463054-12463055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs527644458	chr6:12463055-12463056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs34288139	chr6:12463066-12463067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs397768463	chr6:12463071-12463072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs149145257	chr6:12463089-12463090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs561616140	chr6:12463187-12463188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs530408420	chr6:12463203-12463204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544684756	chr6:12463262-12463263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529518843	chr6:12463263-12463264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs534875182	chr6:12463272-12463273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558074189	chr6:12463279-12463280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549637817	chr6:12463286-12463287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs34199442	chr6:12463297-12463298	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs551415414	chr6:12463321-12463322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372490006	chr6:12463323-12463324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Cancer	20164920	CNVD
Colorectal cancer	21297112	CNVD
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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	22495311	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Invasive pancreatic ductal carcinoma	16982739	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
small cell lung cancer	20016488	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
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ovarian cancer	21720365	CNVD
Cancer	21183584	CNVD
Acute myeloid leukemia	18000384	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Metastatic melanoma	18483359	CNVD

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:12459200-12474000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:12462000-12462600	Enhancers	A549	lung
3	chr6:12463600-12463800	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr6:12464400-12464800	Enhancers	Placenta Amnion	Placenta Amnion
5	chr6:12465800-12466000	Enhancers	Aorta	Aorta
6	chr6:12468000-12468800	Enhancers	Aorta	Aorta
7	chr6:12468000-12468800	Enhancers	HMEC	breast
8	chr6:12468000-12469000	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr6:12468200-12468400	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr6:12468200-12468600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr6:12468200-12468600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr6:12468200-12468600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr6:12468200-12468600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr6:12468200-12468800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr6:12468200-12468800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr6:12468200-12468800	Enhancers	Colon Smooth Muscle	Colon
17	chr6:12468400-12468800	Enhancers	NHEK	skin
18	chr6:12468600-12471400	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr6:12468600-12472000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr6:12468600-12472200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr6:12468600-12472800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr6:12468600-12474000	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr6:12468800-12471400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr6:12468800-12471800	Weak transcription	Aorta	Aorta
25	chr6:12468800-12472000	Weak transcription	Colon Smooth Muscle	Colon
26	chr6:12468800-12472000	Weak transcription	HMEC	breast
27	chr6:12468800-12472000	Weak transcription	NHEK	skin
28	chr6:12469000-12471000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr6:12471000-12471200	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr6:12471000-12471200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr6:12471000-12471600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr6:12471000-12471600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr6:12471000-12471800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr6:12471000-12473000	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr6:12471200-12472600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr6:12471200-12472600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr6:12471200-12475000	Enhancers	A549	lung
38	chr6:12471400-12471600	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr6:12471400-12471600	Enhancers	Esophagus	oesophagus
40	chr6:12471400-12471800	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr6:12471400-12472000	Enhancers	Lung	lung
42	chr6:12471400-12473400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr6:12471400-12473600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr6:12471400-12474000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr6:12471400-12475600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr6:12471600-12472800	Weak transcription	Esophagus	oesophagus
47	chr6:12471600-12473800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr6:12471600-12484800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr6:12471800-12472200	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr6:12471800-12472200	Enhancers	Aorta	Aorta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links