Variant report

Variant	nsv520253
Chromosome Location	chr1:161234623-161237892
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:161228430..161230750-chr1:161235534..161238135,2	MCF-7	breast:
2	chr1:161229889..161232448-chr1:161233494..161236139,3	K562	blood:
3	chr1:161227688..161230234-chr1:161234768..161237380,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000248485	chromatin interactions

Extended variants
information (count: 119 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:119 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11265577	chr1:161234623-161234624	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs6682220	chr1:161234649-161234650	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs559935323	chr1:161234662-161234663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566394436	chr1:161234667-161234668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538555419	chr1:161234673-161234674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs551904633	chr1:161234696-161234697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs144490397	chr1:161234704-161234705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs571935306	chr1:161234758-161234759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542496085	chr1:161234761-161234762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs2501880	chr1:161234796-161234797	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
11	rs565016671	chr1:161234846-161234847	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs574899242	chr1:161234868-161234869	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs11265578	chr1:161234883-161234884	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs2501879	chr1:161234965-161234966	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs183129138	chr1:161234990-161234991	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs11265579	chr1:161235039-161235040	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs546568580	chr1:161235149-161235150	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs148441136	chr1:161235150-161235151	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs576591540	chr1:161235172-161235173	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs115452633	chr1:161235233-161235234	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs560790396	chr1:161235249-161235250	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs542564697	chr1:161235262-161235263	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs114921707	chr1:161235315-161235316	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs562665521	chr1:161235316-161235317	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs539801622	chr1:161235332-161235333	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs12754024	chr1:161235341-161235342	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs561485867	chr1:161235356-161235357	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs552088153	chr1:161235377-161235378	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs141687919	chr1:161235403-161235404	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs185172787	chr1:161235414-161235415	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs190603221	chr1:161235458-161235459	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs116108455	chr1:161235467-161235468	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs200888955	chr1:161235521-161235522	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs534293729	chr1:161235563-161235564	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs75213764	chr1:161235597-161235598	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs183312174	chr1:161235615-161235616	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs12754503	chr1:161235658-161235659	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs532448943	chr1:161235681-161235682	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs187958761	chr1:161235689-161235690	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs542024095	chr1:161235768-161235769	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs552163491	chr1:161235817-161235818	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs12137529	chr1:161235880-161235881	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs372446445	chr1:161235923-161235924	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs193180737	chr1:161235933-161235934	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs144494098	chr1:161235952-161235953	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs139826170	chr1:161235954-161235955	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs532009127	chr1:161235963-161235964	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs200688510	chr1:161235970-161235971	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs139657386	chr1:161235978-161235979	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs112811373	chr1:161235982-161235983	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:107)

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

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161229400-161234800	Weak transcription	Ovary	ovary
2	chr1:161231200-161235400	Weak transcription	Colon Smooth Muscle	Colon
3	chr1:161231400-161235000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:161231600-161235000	Weak transcription	Placenta	Placenta
5	chr1:161231600-161235800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr1:161231600-161236000	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr1:161231800-161235200	Weak transcription	Fetal Heart	heart
8	chr1:161231800-161235800	Weak transcription	Brain Anterior Caudate	brain
9	chr1:161232000-161236600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:161232400-161235200	Weak transcription	Fetal Stomach	stomach
11	chr1:161232600-161235200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr1:161232600-161237000	Weak transcription	GM12878-XiMat	blood
13	chr1:161233400-161237000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr1:161234800-161237600	Enhancers	Ovary	ovary
15	chr1:161235000-161235400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr1:161235000-161235600	Enhancers	Placenta	Placenta
17	chr1:161235000-161237400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr1:161235200-161236000	Enhancers	Stomach Smooth Muscle	stomach
19	chr1:161235200-161236200	Enhancers	Fetal Heart	heart
20	chr1:161235200-161236400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr1:161235200-161237400	Enhancers	Rectal Smooth Muscle	rectum
22	chr1:161235200-161238000	Enhancers	Fetal Stomach	stomach
23	chr1:161235400-161236000	Enhancers	Colon Smooth Muscle	Colon
24	chr1:161235400-161237200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr1:161235600-161237200	Weak transcription	Placenta	Placenta
26	chr1:161235800-161236200	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr1:161235800-161236400	Enhancers	H1 Cell Line	embryonic stem cell
28	chr1:161235800-161236400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr1:161235800-161236400	Enhancers	NH-A	brain
30	chr1:161235800-161236600	Enhancers	HSMM	muscle
31	chr1:161235800-161236800	Bivalent Enhancer	Osteobl	bone
32	chr1:161235800-161237000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr1:161235800-161237200	Enhancers	Brain Anterior Caudate	brain
34	chr1:161235800-161237200	Enhancers	HSMMtube	muscle
35	chr1:161235800-161237400	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr1:161235800-161237400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr1:161235800-161237400	Enhancers	A549	lung
38	chr1:161235800-161237600	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr1:161235800-161237600	Enhancers	Fetal Muscle Leg	muscle
40	chr1:161236000-161236200	Enhancers	H9 Cell Line	embryonic stem cell
41	chr1:161236000-161236200	Enhancers	Brain Cingulate Gyrus	brain
42	chr1:161236000-161236400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr1:161236000-161236400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr1:161236000-161236400	Flanking Active TSS	Colon Smooth Muscle	Colon
45	chr1:161236000-161236600	Enhancers	Muscle Satellite Cultured Cells	--
46	chr1:161236000-161236800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr1:161236000-161236800	Flanking Active TSS	Stomach Smooth Muscle	stomach
48	chr1:161236000-161237200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr1:161236000-161237200	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr1:161236000-161237200	Enhancers	HUES6 Cell Line	embryonic stem cell

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