Variant report

Variant	esv3390816
Chromosome Location	chr6:45125024-45127072
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	CEBPB	chr6:45126821-45127133	HepG2	liver:	n/a	chr6:45126969-45126980
2	CEBPB	chr6:45126932-45126979	H1-hESC	embryonic stem cell:	n/a	n/a
3	JUND	chr6:45126815-45126987	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:45124236..45126557-chr6:45137066..45139205,2	MCF-7	breast:
2	chr6:45120420..45122464-chr6:45122631..45125594,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RUNX2-4	chr6:45126607-45127248	NONHSAT112972

Variant related genes	Relation type
ENSG00000219384	TF binding region

Extended variants
information (count: 81 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575094350	chr6:45125079-45125080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs542444780	chr6:45125168-45125169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs561011253	chr6:45125191-45125192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs151176514	chr6:45125275-45125276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs528402630	chr6:45125291-45125292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs113393026	chr6:45125329-45125330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs539819985	chr6:45125347-45125348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs564901196	chr6:45125348-45125349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs532203067	chr6:45125431-45125432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs373404723	chr6:45125432-45125433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs146942427	chr6:45125446-45125447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs569020341	chr6:45125454-45125455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs183269782	chr6:45125520-45125521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs60637239	chr6:45125526-45125527	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs567016637	chr6:45125532-45125533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs149223255	chr6:45125536-45125537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs189149099	chr6:45125578-45125579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs190687814	chr6:45125579-45125580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs573944345	chr6:45125676-45125677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs537897447	chr6:45125708-45125709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs556219992	chr6:45125722-45125723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs182976881	chr6:45125746-45125747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs143380358	chr6:45125747-45125748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs573157677	chr6:45125749-45125750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs148371526	chr6:45125775-45125776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs11970496	chr6:45125833-45125834	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs202108245	chr6:45125939-45125940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs3054762	chr6:45125969-45125970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs70996304	chr6:45125972-45125973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs545905988	chr6:45125980-45125981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs201537767	chr6:45125983-45125984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs60104198	chr6:45125993-45125994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs60892160	chr6:45125994-45125995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs57740836	chr6:45126000-45126001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs60968697	chr6:45126002-45126003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs58499585	chr6:45126006-45126007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs10948206	chr6:45126012-45126013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs372462243	chr6:45126029-45126030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs138168674	chr6:45126031-45126032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs67871732	chr6:45126033-45126034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs1285032	chr6:45126035-45126036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs10948207	chr6:45126037-45126038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs56882164	chr6:45126052-45126053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs573008377	chr6:45126149-45126150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs560749532	chr6:45126164-45126165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs529574435	chr6:45126188-45126189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs574820386	chr6:45126191-45126192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs72870914	chr6:45126245-45126246	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs76323136	chr6:45126258-45126259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs370130408	chr6:45126287-45126288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	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
Hepatocellular carcinoma	16750200	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Systemic lupus erythematosus	17503323	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
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	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
Colorectal cancer	16790693	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Systemic lupus erythematosus	19287148	CNVD
Colorectal cancer	19359472	CNVD
Multiple myeloma	16616336	CNVD
Chordoma	18071362	CNVD
Follicular lymphoma	16790693	CNVD
Osteosarcoma	19286668	CNVD
Neurocytoma	17123091	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Ovarian cancer	20844748	CNVD
lymphocytic leukemia	21291569	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45123200-45126800	Enhancers	Dnd41	blood
2	chr6:45123600-45130000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr6:45125000-45127600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr6:45125000-45128600	Weak transcription	K562	blood
5	chr6:45125000-45130600	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr6:45126800-45128400	Weak transcription	Dnd41	blood

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