Variant report

Variant	esv3452563
Chromosome Location	chr1:168426919-168428923
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 97 )
Associated
traits (count: 93 )

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	rs572120313	chr1:168426925-168426926	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs374468810	chr1:168426952-168426953	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs562610004	chr1:168426954-168426955	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs181823233	chr1:168426966-168426967	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs370973017	chr1:168426970-168426971	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs370672899	chr1:168426982-168426983	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs544033636	chr1:168426984-168426985	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs566602780	chr1:168426986-168426987	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs565476426	chr1:168426993-168426994	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs372479236	chr1:168427001-168427002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs12063637	chr1:168427012-168427013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs532704933	chr1:168427013-168427014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs144915687	chr1:168427040-168427041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs368391187	chr1:168427051-168427052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs61801288	chr1:168427063-168427064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs61801289	chr1:168427067-168427068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs61801290	chr1:168427071-168427072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs376513671	chr1:168427076-168427077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs374475314	chr1:168427080-168427081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs377432889	chr1:168427095-168427096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs1620505	chr1:168427099-168427100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs71118928	chr1:168427102-168427103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs4642868	chr1:168427103-168427104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs368137213	chr1:168427107-168427108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs377613774	chr1:168427111-168427112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs140378384	chr1:168427115-168427116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs57704202	chr1:168427143-168427144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs3046041	chr1:168427148-168427149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs527305067	chr1:168427161-168427162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs371089168	chr1:168427173-168427174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs141776154	chr1:168427175-168427176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs542606125	chr1:168427185-168427186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs370591647	chr1:168427187-168427188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs527597300	chr1:168427193-168427194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs547343032	chr1:168427194-168427195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs150297473	chr1:168427200-168427201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs12035700	chr1:168427213-168427214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs137860450	chr1:168427328-168427329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549614173	chr1:168427363-168427364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs571115755	chr1:168427370-168427371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs538408615	chr1:168427375-168427376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12025978	chr1:168427383-168427384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs149494331	chr1:168427414-168427415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143077194	chr1:168427449-168427450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536683362	chr1:168427526-168427527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs138497014	chr1:168427599-168427600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375253004	chr1:168427600-168427601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs532405082	chr1:168427662-168427663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12121993	chr1:168427762-168427763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs189403254	chr1:168427765-168427766	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
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	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
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
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	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
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Myelofibrosis	22110671	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Williams-beuren syndrome	16971481	CNVD
Developmental delay	21147756	CNVD
Burkitt''s lymphoma	20823134	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:168423000-168430600	Weak transcription	Liver	Liver
2	chr1:168423400-168427200	Enhancers	NHEK	skin
3	chr1:168426000-168435200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr1:168426600-168435000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr1:168426600-168435200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:168426800-168427000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:168426800-168427000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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