Variant report

Variant	esv2500882
Chromosome Location	chr1:168426298-168429687
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 155 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:155 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377750252	chr1:168426298-168426299	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs10918894	chr1:168426301-168426302	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs12062332	chr1:168426305-168426306	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs369803183	chr1:168426309-168426310	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556641786	chr1:168426317-168426318	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577696652	chr1:168426331-168426332	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538470548	chr1:168426339-168426340	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs545038514	chr1:168426361-168426362	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs374479396	chr1:168426363-168426364	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201312175	chr1:168426364-168426365	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554859736	chr1:168426365-168426366	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs553743134	chr1:168426410-168426411	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs572059720	chr1:168426430-168426431	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs142850746	chr1:168426452-168426453	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs150995050	chr1:168426482-168426483	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs531952112	chr1:168426513-168426514	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs543631036	chr1:168426539-168426540	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs562604327	chr1:168426540-168426541	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs141007956	chr1:168426585-168426586	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs551442837	chr1:168426594-168426595	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs566478725	chr1:168426595-168426596	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs574004279	chr1:168426611-168426612	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs527251379	chr1:168426622-168426623	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs549276434	chr1:168426660-168426661	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs567421411	chr1:168426741-168426742	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs540531183	chr1:168426768-168426769	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs553745585	chr1:168426789-168426790	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs555925998	chr1:168426851-168426852	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs858098	chr1:168426890-168426891	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs538747553	chr1:168426895-168426896	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs72703776	chr1:168426904-168426905	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs572120313	chr1:168426925-168426926	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs374468810	chr1:168426952-168426953	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs562610004	chr1:168426954-168426955	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs181823233	chr1:168426966-168426967	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs370973017	chr1:168426970-168426971	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs370672899	chr1:168426982-168426983	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs544033636	chr1:168426984-168426985	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs566602780	chr1:168426986-168426987	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs565476426	chr1:168426993-168426994	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs372479236	chr1:168427001-168427002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs12063637	chr1:168427012-168427013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs532704933	chr1:168427013-168427014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs144915687	chr1:168427040-168427041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs368391187	chr1:168427051-168427052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs61801288	chr1:168427063-168427064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs61801289	chr1:168427067-168427068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs61801290	chr1:168427071-168427072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs376513671	chr1:168427076-168427077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs374475314	chr1:168427080-168427081	Weak transcription Enhancers	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:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:168423000-168426600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:168423000-168426600	Enhancers	HMEC	breast
3	chr1:168423000-168430600	Weak transcription	Liver	Liver
4	chr1:168423400-168426400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:168423400-168427200	Enhancers	NHEK	skin
6	chr1:168424800-168426400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:168425200-168426600	Enhancers	Placenta Amnion	Placenta Amnion
8	chr1:168426000-168435200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr1:168426400-168426600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:168426400-168426600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:168426400-168426600	Enhancers	Esophagus	oesophagus
12	chr1:168426400-168426600	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr1:168426400-168426600	Enhancers	Hela-S3	cervix
14	chr1:168426600-168426800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:168426600-168426800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:168426600-168435000	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr1:168426600-168435200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:168426800-168427000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr1:168426800-168427000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:168429400-168430000	Enhancers	Primary neutrophils fromperipheralblood	blood

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