Variant report

Variant	esv3384337
Chromosome Location	chr1:221647479-221649577
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	chr1:221649117..221652436-chr1:221913208..221916145,3	MCF-7	breast:
2	chr1:221644525..221647511-chr1:221668649..221670160,2	K562	blood:

Variant related genes	Relation type
ENSG00000143507	chromatin interactions

Extended variants
information (count: 97 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548458956	chr1:221647515-221647516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs34072450	chr1:221647579-221647580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs368570754	chr1:221647594-221647595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs11118725	chr1:221647602-221647603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572784231	chr1:221647621-221647622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs185718768	chr1:221647634-221647635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs79214600	chr1:221647653-221647654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs570853892	chr1:221647683-221647684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201452006	chr1:221647700-221647701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189025353	chr1:221647728-221647729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs180981198	chr1:221647763-221647764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574643836	chr1:221647815-221647816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535672610	chr1:221647830-221647831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557195265	chr1:221647833-221647834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12084674	chr1:221647844-221647845	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs11118726	chr1:221647887-221647888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs144249126	chr1:221647891-221647892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs564943877	chr1:221647911-221647912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs34799038	chr1:221647916-221647917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574366772	chr1:221648008-221648009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs559495198	chr1:221648016-221648017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs529888089	chr1:221648017-221648018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543386826	chr1:221648043-221648044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548420137	chr1:221648058-221648059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372218494	chr1:221648083-221648084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563212912	chr1:221648096-221648097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs61817016	chr1:221648179-221648180	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs374927826	chr1:221648220-221648221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552279502	chr1:221648242-221648243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570783299	chr1:221648244-221648245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs78593051	chr1:221648245-221648246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs398089897	chr1:221648246-221648247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370786777	chr1:221648269-221648270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545553548	chr1:221648306-221648307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs116283403	chr1:221648308-221648309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565038801	chr1:221648315-221648316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546658273	chr1:221648322-221648323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs151273221	chr1:221648336-221648337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs527826591	chr1:221648340-221648341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs199940830	chr1:221648351-221648352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs71167257	chr1:221648352-221648353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs398103727	chr1:221648358-221648359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535634346	chr1:221648363-221648364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs547858083	chr1:221648364-221648365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201542037	chr1:221648380-221648381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201983939	chr1:221648388-221648389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12065397	chr1:221648405-221648406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs61817017	chr1:221648416-221648417	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs199663323	chr1:221648505-221648506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs377412566	chr1:221648515-221648516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	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
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Autism	14699429	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	20808228	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221636400-221651200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:221642200-221651200	Weak transcription	HSMM	muscle
3	chr1:221645000-221651000	Weak transcription	Hela-S3	cervix
4	chr1:221649400-221650200	Enhancers	Fetal Lung	lung

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