Variant report

Variant	nsv946435
Chromosome Location	chr1:158144162-158145633
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr1:158144790-158145121	HepG2	liver:	n/a	n/a
2	POLR2A	chr1:158144886-158144896	ProgFib	skin:	n/a	n/a
3	POLR2A	chr1:158144804-158144806	ProgFib	skin:	n/a	n/a
4	POLR2A	chr1:158144662-158144801	K562	blood:	n/a	n/a
5	POLR2A	chr1:158144769-158145086	HepG2	liver:	n/a	n/a
6	POLR2A	chr1:158144945-158145007	ProgFib	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:158143331..158145618-chr1:158149184..158151309,2	K562	blood:
2	chr1:158137977..158140665-chr1:158145143..158147474,2	MCF-7	breast:

Variant related genes	Relation type
CD1D	TF binding region
ENSG00000158473	chromatin interactions

Extended variants
information (count: 45 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549606322	chr1:158144182-158144183	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs76549965	chr1:158144191-158144192	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs369065103	chr1:158144203-158144204	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs562155349	chr1:158144209-158144210	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs568891271	chr1:158144268-158144269	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs535065295	chr1:158144314-158144315	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs529981992	chr1:158144389-158144390	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs147268125	chr1:158144393-158144394	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs139105896	chr1:158144413-158144414	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs189559081	chr1:158144480-158144481	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs553180791	chr1:158144516-158144517	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs182214395	chr1:158144536-158144537	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs538770899	chr1:158144538-158144539	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs556904981	chr1:158144632-158144633	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs531053463	chr1:158144747-158144748	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs554908925	chr1:158144788-158144789	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs185463657	chr1:158144848-158144849	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs114687405	chr1:158144863-158144864	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs191350176	chr1:158144864-158144865	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs534566753	chr1:158144893-158144894	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs373350765	chr1:158144934-158144935	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs183594278	chr1:158145027-158145028	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs377484544	chr1:158145052-158145053	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs188487793	chr1:158145073-158145074	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs375780662	chr1:158145079-158145080	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs562451654	chr1:158145124-158145125	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs529720999	chr1:158145144-158145145	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs548182654	chr1:158145147-158145148	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs560434821	chr1:158145206-158145207	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs527598257	chr1:158145222-158145223	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs193175791	chr1:158145228-158145229	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs1570699	chr1:158145229-158145230	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs3843309	chr1:158145252-158145253	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs550692679	chr1:158145272-158145273	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs543650582	chr1:158145333-158145334	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs568911163	chr1:158145355-158145356	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs536691476	chr1:158145359-158145360	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs554675793	chr1:158145421-158145422	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs183258969	chr1:158145424-158145425	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs113199513	chr1:158145445-158145446	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs34968835	chr1:158145556-158145557	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs12049573	chr1:158145558-158145559	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs111528938	chr1:158145609-158145610	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs10489821	chr1:158145614-158145615	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs577547002	chr1:158145627-158145628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	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
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	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	21804112	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Breast cancer	21045282	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:158139400-158147400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:158143800-158149000	Weak transcription	Small Intestine	intestine
3	chr1:158144800-158145000	Enhancers	Left Ventricle	heart
4	chr1:158145400-158147400	Enhancers	Primary B cells from peripheral blood	blood

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