Variant report

Variant	esv3518435
Chromosome Location	chr1:246969179-246970977
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	EP300	chr1:246970113-246970115	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:246966820..246969788-chr1:246972705..246974206,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000252495	TF binding region

Extended variants
information (count: 76 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs367894509	chr1:246969238-246969239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs10924842	chr1:246969261-246969262	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs552037240	chr1:246969264-246969265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs377478948	chr1:246969268-246969269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs80073597	chr1:246969275-246969276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568850311	chr1:246969299-246969300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs190744773	chr1:246969305-246969306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554418830	chr1:246969310-246969311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574583481	chr1:246969311-246969312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs527294578	chr1:246969331-246969332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs192026764	chr1:246969380-246969381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs370429504	chr1:246969383-246969384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553855962	chr1:246969389-246969390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184214624	chr1:246969399-246969400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs368761472	chr1:246969403-246969404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs554868975	chr1:246969439-246969440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545852140	chr1:246969448-246969449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565568829	chr1:246969541-246969542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563980170	chr1:246969572-246969573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574488740	chr1:246969585-246969586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs576054474	chr1:246969593-246969594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544893236	chr1:246969624-246969625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs115502306	chr1:246969630-246969631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138967954	chr1:246969650-246969651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546755067	chr1:246969653-246969654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs149428459	chr1:246969680-246969681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs144811967	chr1:246969701-246969702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs148127921	chr1:246969781-246969782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs568911240	chr1:246969792-246969793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs4926469	chr1:246969804-246969805	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs74152709	chr1:246969881-246969882	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs369922419	chr1:246969897-246969898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200470421	chr1:246969898-246969899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568135760	chr1:246969925-246969926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs534023892	chr1:246969926-246969927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs377679225	chr1:246969988-246969989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs386508274	chr1:246969989-246969990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs61852555	chr1:246969995-246969996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs577220685	chr1:246970004-246970005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs553573743	chr1:246970154-246970155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs78864381	chr1:246970179-246970180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539437255	chr1:246970199-246970200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs61852556	chr1:246970258-246970259	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs181058474	chr1:246970261-246970262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186730444	chr1:246970296-246970297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs564898066	chr1:246970400-246970401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs147157001	chr1:246970421-246970422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs372484445	chr1:246970435-246970436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs540861845	chr1:246970437-246970438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs140318365	chr1:246970450-246970451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Neuroblastoma	21899760	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	20729466	CNVD
Testicular germ cell tumor	18059402	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	22291905	CNVD
Myelofibrosis	22110671	CNVD
Disease	21936942	CNVD
laryngomalacia	21936942	CNVD
GLUT3 deficiency syndrome	20509907	CNVD
Developmental delay	21373258	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Developmental delay	19490664	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Cutaneous malignant melanoma	18794153	CNVD
Astrocytoma	17934521	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Breast cancer	20409316	CNVD
Fibroblasts	17951408	CNVD
Lung cancer	17951408	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:246964400-246973000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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