Variant report

Variant	esv3413947
Chromosome Location	chr6:13002566-13005664
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	chr6:13000472..13003227-chr6:13006605..13008195,2	K562	blood:
2	chr6:13004185..13006578-chr6:13012805..13015375,2	K562	blood:

Extended variants
information (count: 99 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:99 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181093147	chr6:13002615-13002616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs376780498	chr6:13002623-13002624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs9463363	chr6:13002629-13002630	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs561804489	chr6:13002635-13002636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs140289585	chr6:13002676-13002677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs547738945	chr6:13002787-13002788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs150313426	chr6:13002807-13002808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs371925275	chr6:13002821-13002822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs564298421	chr6:13002827-13002828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs541447656	chr6:13002878-13002879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs74920378	chr6:13002880-13002881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs375148607	chr6:13002881-13002882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs549160563	chr6:13002968-13002969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs569090425	chr6:13002973-13002974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs369003858	chr6:13003009-13003010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs115476199	chr6:13003034-13003035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs551365854	chr6:13003099-13003100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs149085720	chr6:13003112-13003113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs369258647	chr6:13003170-13003171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs533401599	chr6:13003372-13003373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs533545665	chr6:13003414-13003415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs372305844	chr6:13003435-13003436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs61544734	chr6:13003505-13003506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553776473	chr6:13003515-13003516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566976312	chr6:13003576-13003577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs143201686	chr6:13003577-13003578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556303583	chr6:13003632-13003633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535083057	chr6:13003676-13003677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576249878	chr6:13003686-13003687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs138913060	chr6:13003687-13003688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs185743541	chr6:13003691-13003692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs199770813	chr6:13003697-13003698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572735598	chr6:13003699-13003700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs375902284	chr6:13003706-13003707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188936967	chr6:13003725-13003726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112130685	chr6:13003798-13003799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs141403411	chr6:13003824-13003825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12211090	chr6:13003825-13003826	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs146416782	chr6:13003833-13003834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs36047737	chr6:13003869-13003870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187120268	chr6:13003940-13003941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192456070	chr6:13003989-13003990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182543386	chr6:13003993-13003994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs551594201	chr6:13004014-13004015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185264389	chr6:13004052-13004053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs138986576	chr6:13004066-13004067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547037248	chr6:13004155-13004156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547670062	chr6:13004183-13004184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs535914567	chr6:13004195-13004196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs71533618	chr6:13004196-13004197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Breast cancer	21990379	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:12988800-13006000	Weak transcription	Aorta	Aorta
2	chr6:12995600-13004400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr6:12997400-13011000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:13000200-13004400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr6:13000400-13004600	Weak transcription	Primary hematopoietic stem cells	blood
6	chr6:13000600-13002800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr6:13001600-13003200	Enhancers	Fetal Heart	heart
8	chr6:13001800-13002600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr6:13001800-13003200	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr6:13002000-13003000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr6:13002200-13003000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr6:13002400-13003200	Enhancers	Fetal Brain Female	brain
13	chr6:13002400-13003400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr6:13002600-13006400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr6:13002800-13003400	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr6:13003000-13005600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr6:13003200-13004400	Weak transcription	Fetal Heart	heart
18	chr6:13003400-13004400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr6:13003400-13006800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr6:13004400-13006000	Enhancers	Fetal Heart	heart
21	chr6:13004400-13006200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr6:13004400-13006400	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr6:13004400-13010200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr6:13004600-13005200	Enhancers	Primary hematopoietic stem cells	blood
25	chr6:13004800-13005000	Enhancers	Right Atrium	heart
26	chr6:13004800-13005200	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr6:13004800-13005200	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr6:13005000-13005200	Enhancers	Stomach Smooth Muscle	stomach
29	chr6:13005200-13006200	Weak transcription	Stomach Smooth Muscle	stomach
30	chr6:13005200-13008200	Weak transcription	Primary hematopoietic stem cells	blood
31	chr6:13005600-13007200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links