Variant report

Variant	esv3363747
Chromosome Location	chr1:195557329-195560627
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	chr1:195553010..195555142-chr1:195558344..195561243,2	K562	blood:

Extended variants
information (count: 121 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:121 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183908388	chr1:195557340-195557341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs187221038	chr1:195557369-195557370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191936227	chr1:195557398-195557399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs545833615	chr1:195557413-195557414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs35695248	chr1:195557416-195557417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557761240	chr1:195557532-195557533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554420399	chr1:195557654-195557655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548404955	chr1:195557658-195557659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs377414853	chr1:195557728-195557729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs139493058	chr1:195557791-195557792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561791563	chr1:195557802-195557803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs554136243	chr1:195557805-195557806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs58502062	chr1:195557806-195557807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs397982494	chr1:195557817-195557818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200009086	chr1:195557818-195557819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183854133	chr1:195557838-195557839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs146277618	chr1:195557844-195557845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562657919	chr1:195557910-195557911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533237013	chr1:195557930-195557931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551389471	chr1:195557949-195557950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs76062833	chr1:195557992-195557993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs370734171	chr1:195557996-195557997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566855947	chr1:195558032-195558033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs75131644	chr1:195558034-195558035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs528017156	chr1:195558045-195558046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs569718351	chr1:195558074-195558075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187450115	chr1:195558077-195558078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs139382042	chr1:195558119-195558120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538457835	chr1:195558149-195558150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536713718	chr1:195558186-195558187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191833338	chr1:195558189-195558190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569010337	chr1:195558222-195558223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs539534508	chr1:195558230-195558231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs36011058	chr1:195558236-195558237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576413393	chr1:195558289-195558290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558641473	chr1:195558290-195558291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572804245	chr1:195558302-195558303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539796284	chr1:195558337-195558338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs73068322	chr1:195558373-195558374	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs573817915	chr1:195558402-195558403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs544211531	chr1:195558424-195558425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs562320348	chr1:195558488-195558489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533297143	chr1:195558520-195558521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545091135	chr1:195558524-195558525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557711414	chr1:195558528-195558529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs182567849	chr1:195558608-195558609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs73068324	chr1:195558609-195558610	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs567966828	chr1:195558657-195558658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs150974078	chr1:195558713-195558714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs113142673	chr1:195558733-195558734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	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
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
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	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
Hepatocellular carcinoma	18803288	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
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Burkitt''s lymphoma	20823134	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:195554800-195559600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr1:195559600-195560400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:195559600-195561400	Enhancers	NH-A	brain
4	chr1:195559800-195560200	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr1:195559800-195561600	Enhancers	Hela-S3	cervix
6	chr1:195559800-195562000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:195560000-195560800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:195560200-195562800	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr1:195560400-195561200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:195560400-195562000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr1:195560600-195561000	Enhancers	NHDF-Ad	bronchial
12	chr1:195560600-195562000	Enhancers	Muscle Satellite Cultured Cells	--
13	chr1:195560600-195562000	Enhancers	NHEK	skin

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