Variant report

Variant	esv3414160
Chromosome Location	chr1:215266029-215268252
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 90 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:90 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573038210	chr1:215266041-215266042	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs551177527	chr1:215266067-215266068	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs182875437	chr1:215266068-215266069	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs138556375	chr1:215266082-215266083	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs534518919	chr1:215266107-215266108	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs555344493	chr1:215266115-215266116	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs7513337	chr1:215266117-215266118	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs75492900	chr1:215266136-215266137	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs76425373	chr1:215266204-215266205	Bivalent/Poised TSS Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs557404166	chr1:215266209-215266210	Bivalent/Poised TSS Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs577297629	chr1:215266222-215266223	Bivalent/Poised TSS Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs72735337	chr1:215266250-215266251	Bivalent/Poised TSS Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs563135581	chr1:215266273-215266274	Bivalent/Poised TSS Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs386639282	chr1:215266277-215266278	Bivalent/Poised TSS Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs144855963	chr1:215266278-215266279	Bivalent/Poised TSS Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs148556369	chr1:215266332-215266333	Bivalent/Poised TSS Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs114102173	chr1:215266377-215266378	Bivalent/Poised TSS Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs545396392	chr1:215266378-215266379	Bivalent/Poised TSS Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs564100963	chr1:215266398-215266399	Bivalent/Poised TSS Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs565410214	chr1:215266423-215266424	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs578246526	chr1:215266460-215266461	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371222448	chr1:215266482-215266483	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185876722	chr1:215266523-215266524	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531015707	chr1:215266528-215266529	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs142946098	chr1:215266559-215266560	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567705779	chr1:215266589-215266590	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540969461	chr1:215266645-215266646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs530430458	chr1:215266700-215266701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs34354787	chr1:215266851-215266852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs397810726	chr1:215266854-215266855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546943167	chr1:215266895-215266896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs61123230	chr1:215266907-215266908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12733898	chr1:215266909-215266910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs12729733	chr1:215266910-215266911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs183315408	chr1:215266957-215266958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs187502609	chr1:215266981-215266982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12080877	chr1:215267010-215267011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12079747	chr1:215267080-215267081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs59324247	chr1:215267085-215267086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs56916708	chr1:215267087-215267088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs61249713	chr1:215267088-215267089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs58437056	chr1:215267101-215267102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12080821	chr1:215267113-215267114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7368047	chr1:215267114-215267115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs57714476	chr1:215267120-215267121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12081965	chr1:215267121-215267122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371903332	chr1:215267140-215267141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375701287	chr1:215267144-215267145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs187890131	chr1:215267146-215267147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12738022	chr1:215267153-215267154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Ovarian cancer	21720365	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
Breast cancer	22522925	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:215258200-215277600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr1:215258400-215267400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr1:215258400-215277600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:215261600-215266600	Strong transcription	Osteobl	bone
5	chr1:215262000-215267800	Weak transcription	Fetal Brain Male	brain
6	chr1:215264800-215266200	Strong transcription	Fetal Brain Female	brain
7	chr1:215265000-215268600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:215265400-215280800	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr1:215265800-215266400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:215266000-215266600	Genic enhancers	NHDF-Ad	bronchial
11	chr1:215266200-215266400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr1:215266200-215269400	Weak transcription	Fetal Brain Female	brain
13	chr1:215266400-215267400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:215266600-215268000	Weak transcription	Osteobl	bone
15	chr1:215266600-215276000	Weak transcription	NHDF-Ad	bronchial
16	chr1:215267400-215267800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:215267400-215268000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:215267800-215268600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:215267800-215269600	Enhancers	Fetal Brain Male	brain
20	chr1:215268000-215269400	Strong transcription	Osteobl	bone
21	chr1:215268000-215270200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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