Variant report

Variant	esv2541280
Chromosome Location	chr1:160954683-160956285
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 77 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115282936	chr1:160954692-160954693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs6677526	chr1:160954837-160954838	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs560584833	chr1:160954840-160954841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs6700977	chr1:160954851-160954852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs66519914	chr1:160954860-160954861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs11804012	chr1:160954864-160954865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs75321982	chr1:160954872-160954873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs71485856	chr1:160954878-160954879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs559307811	chr1:160954884-160954885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs74920795	chr1:160954888-160954889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs75070648	chr1:160954911-160954912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs181726694	chr1:160954915-160954916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185925828	chr1:160954925-160954926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs191186830	chr1:160954933-160954934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567467829	chr1:160954962-160954963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs113813127	chr1:160955016-160955017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112822036	chr1:160955026-160955027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs34321898	chr1:160955038-160955039	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
19	rs189918722	chr1:160955056-160955057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182711192	chr1:160955057-160955058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187998106	chr1:160955068-160955069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546923947	chr1:160955088-160955089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566614667	chr1:160955096-160955097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs371365142	chr1:160955126-160955127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs58657542	chr1:160955140-160955141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs140535210	chr1:160955142-160955143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374808474	chr1:160955149-160955150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs368569647	chr1:160955151-160955152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs7531887	chr1:160955188-160955189	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
30	rs6427569	chr1:160955189-160955190	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
31	rs6427570	chr1:160955214-160955215	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
32	rs540394646	chr1:160955221-160955222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs61803663	chr1:160955226-160955227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs6427571	chr1:160955295-160955296	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs529152977	chr1:160955305-160955306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs145939556	chr1:160955332-160955333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541253810	chr1:160955442-160955443	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs192835002	chr1:160955443-160955444	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs183603544	chr1:160955463-160955464	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs550699781	chr1:160955495-160955496	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs560922342	chr1:160955529-160955530	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs529928711	chr1:160955536-160955537	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs539838716	chr1:160955554-160955555	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs138412395	chr1:160955555-160955556	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs149247907	chr1:160955563-160955564	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs552348388	chr1:160955590-160955591	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs552581831	chr1:160955599-160955600	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs569153029	chr1:160955659-160955660	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs144577233	chr1:160955699-160955700	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs554660364	chr1:160955711-160955712	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:114)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Non-small cell lung cancer	21385341	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	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
Systemic lupus erythematosus	21956041	CNVD
Non-syndromic sensorineural hearing loss	15273396	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
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Type 2 diabetes	19141583	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
Bladder cancer	21909424	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Systemic lupus erythematosus	19220326	CNVD
Systemic lupus erythematosus	19287148	CNVD
Glomerulonephritis	19341492	CNVD
Systemic lupus erythematosus	18559452	CNVD
Systemic autoimmune disease	17597778	CNVD
Glomerulonephritis	17008540	CNVD
Glomerulonephritis	16482158	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Breast cancer	21045282	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Follicular lymphoma	18703704	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20409316	CNVD
Mental retardation	17847001	CNVD
Idiopathic thrombocytopenic purpura	17827395	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160943200-160959800	Weak transcription	Pancreas	Pancrea
2	chr1:160948600-160968000	Weak transcription	Ovary	ovary
3	chr1:160952200-160956400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:160952200-160964400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr1:160952200-160967000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:160952400-160956400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr1:160952400-160957200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:160953200-160966600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr1:160953600-160955600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:160953600-160955800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr1:160953600-160956200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr1:160953800-160968200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr1:160954000-160956000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr1:160954000-160956600	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr1:160954200-160959800	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr1:160955400-160956000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
17	chr1:160955600-160955800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:160955600-160956000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
19	chr1:160955800-160956000	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr1:160955800-160956600	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr1:160955800-160964400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:160956000-160956200	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr1:160956000-160956400	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr1:160956000-160956400	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr1:160956000-160956600	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr1:160956200-160957000	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr1:160956200-160957200	Enhancers	iPS-15b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links