Variant report

Variant	esv3444822
Chromosome Location	chr6:49238596-49240913
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr6:49240818-49240950	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000217631	TF binding region

Extended variants
information (count: 41 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181665655	chr6:49238636-49238637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs546063890	chr6:49238667-49238668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201732432	chr6:49238716-49238717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs564408905	chr6:49238720-49238721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs116474395	chr6:49238731-49238732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577104813	chr6:49238780-49238781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs186856262	chr6:49238801-49238802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs562309672	chr6:49238902-49238903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs150753594	chr6:49238931-49238932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs547911043	chr6:49238944-49238945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188494763	chr6:49238959-49238960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs139079691	chr6:49238961-49238962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs149515424	chr6:49238982-49238983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs569933507	chr6:49238994-49238995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs537363376	chr6:49239000-49239001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548859690	chr6:49239001-49239002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs9689530	chr6:49239003-49239004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs567503282	chr6:49239013-49239014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375557031	chr6:49239029-49239030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538566118	chr6:49239088-49239089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552675647	chr6:49239116-49239117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs115892668	chr6:49239138-49239139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538212115	chr6:49239253-49239254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181304669	chr6:49239280-49239281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185275947	chr6:49239305-49239306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190026954	chr6:49239354-49239355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541547222	chr6:49239364-49239365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs572782	chr6:49239412-49239413	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs574211535	chr6:49239420-49239421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs144001326	chr6:49239441-49239442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540175	chr6:49239606-49239607	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs75436790	chr6:49239661-49239662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540374	chr6:49239678-49239679	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs563678529	chr6:49239680-49239681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535270910	chr6:49239701-49239702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs78883162	chr6:49239776-49239777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541985	chr6:49239798-49239799	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs183781632	chr6:49239799-49239800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs553603969	chr6:49240861-49240862	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs144597585	chr6:49240889-49240890	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs539111352	chr6:49240899-49240900	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
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
Glioblastoma multiforme	21080181	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
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Osteosarcoma	16790693	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
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
abnormal development	18461090	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Follicular lymphoma	16790693	CNVD
Osteosarcoma	19286668	CNVD
Neurocytoma	17123091	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Breast cancer	16608533	CNVD
Olfactory neuroblastoma	18408657	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Neuroblastoma	19686582	CNVD
Neuroblastoma	17289879	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Bladder cancer	21909424	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:49233000-49239800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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