Variant report

Variant	esv3420238
Chromosome Location	chr6:13880473-13885771
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:13874162..13876058-chr6:13879893..13881410,2	MCF-7	breast:
2	chr6:13866329..13868037-chr6:13883429..13885873,2	MCF-7	breast:
3	chr6:13872608..13875601-chr6:13884105..13886599,2	MCF-7	breast:
4	chr6:13872481..13874307-chr6:13882268..13884825,2	K562	blood:

Extended variants
information (count: 218 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:218 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540465461	chr6:13880516-13880517	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs570935944	chr6:13880519-13880520	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs145520053	chr6:13880520-13880521	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528717263	chr6:13880573-13880574	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs539323842	chr6:13880582-13880583	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533310194	chr6:13880598-13880599	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs74752961	chr6:13880600-13880601	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs144344085	chr6:13880601-13880602	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs373345770	chr6:13880604-13880605	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550237898	chr6:13880609-13880610	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs34918763	chr6:13880617-13880618	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs569982156	chr6:13880640-13880641	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs1204253	chr6:13880645-13880646	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs552060569	chr6:13880673-13880674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs148626381	chr6:13880676-13880677	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534371333	chr6:13880677-13880678	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554378924	chr6:13880688-13880689	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555263794	chr6:13880692-13880693	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567779672	chr6:13880693-13880694	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs186171719	chr6:13880703-13880704	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556388902	chr6:13880754-13880755	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs115964177	chr6:13880760-13880761	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534517589	chr6:13880772-13880773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538690427	chr6:13880786-13880787	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs557624826	chr6:13880787-13880788	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs577542437	chr6:13880790-13880791	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567795742	chr6:13880798-13880799	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs1204254	chr6:13880832-13880833	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs573774934	chr6:13880837-13880838	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542660484	chr6:13880841-13880842	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs151177648	chr6:13880842-13880843	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531322916	chr6:13880857-13880858	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs551424845	chr6:13880878-13880879	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577765387	chr6:13880896-13880897	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs565564417	chr6:13880903-13880904	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs190382934	chr6:13880922-13880923	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113330702	chr6:13880929-13880930	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543194430	chr6:13880933-13880934	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374945130	chr6:13880943-13880944	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs377548762	chr6:13880944-13880945	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567803648	chr6:13880982-13880983	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs1204255	chr6:13881008-13881009	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs550240363	chr6:13881014-13881015	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143999705	chr6:13881092-13881093	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569863279	chr6:13881105-13881106	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs146506486	chr6:13881130-13881131	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs1204256	chr6:13881132-13881133	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs1204257	chr6:13881170-13881171	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs534063081	chr6:13881190-13881191	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs145563092	chr6:13881234-13881235	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
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	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
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Bladder cancer	21909424	CNVD
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
abnormal development	18461090	CNVD
Cancer	16790693	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13874800-13881800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:13879800-13881000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:13880200-13882600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr6:13880400-13880600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr6:13880400-13880600	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr6:13880400-13880800	Enhancers	H9 Cell Line	embryonic stem cell
7	chr6:13880400-13880800	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr6:13880400-13882000	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr6:13880600-13881600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr6:13880600-13881600	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr6:13881000-13882400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr6:13881400-13882400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr6:13881400-13882600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr6:13881400-13882600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr6:13881600-13882200	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr6:13881600-13882400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr6:13881600-13882600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr6:13881800-13882200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr6:13881800-13882400	Enhancers	Placenta Amnion	Placenta Amnion
20	chr6:13882400-13884600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr6:13882600-13885000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr6:13884000-13886000	Enhancers	Fetal Brain Male	brain
23	chr6:13884200-13885200	Enhancers	K562	blood
24	chr6:13884400-13884600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr6:13884600-13885000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr6:13884600-13885200	Enhancers	Gastric	stomach
27	chr6:13885000-13885200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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