Variant report

Variant	nsv946550
Chromosome Location	chr1:192682340-192691443
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	CTCF	chr1:192683580-192683730	GM12867	blood:	n/a	n/a
2	CTCF	chr1:192682967-192683045	ProgFib	skin:	n/a	n/a
3	CTCF	chr1:192684280-192684430	GM12873	blood:	n/a	n/a
4	CTCF	chr1:192684341-192684360	GM13976	blood:	n/a	n/a
5	HEY1	chr1:192685656-192685780	HepG2	liver:	n/a	n/a
6	JUN	chr1:192689139-192689324	K562	blood:	n/a	n/a
7	JUN	chr1:192684843-192684869	HepG2	liver:	n/a	n/a
8	JUND	chr1:192684648-192684961	HepG2	liver:	n/a	n/a
9	POLR2A	chr1:192690516-192690536	MCF-7	breast:	n/a	n/a
10	POLR2A	chr1:192682981-192683146	A549	lung:	n/a	n/a
11	POLR2A	chr1:192685278-192685862	GM12878	blood:	n/a	n/a
12	POLR2A	chr1:192685334-192685736	GM12878	blood:	n/a	n/a
13	POLR2A	chr1:192690551-192690658	MCF-7	breast:	n/a	n/a
14	POLR2A	chr1:192685387-192685798	Hela-S3	cervix:	n/a	n/a
15	RFX5	chr1:192691028-192691194	K562	blood:	n/a	n/a
16	SETDB1	chr1:192689668-192690080	U2OS	brain:	n/a	n/a
17	STAT3	chr1:192689718-192689766	MCF10A-Er-Src	breast:	n/a	n/a
18	ZBTB33	chr1:192685293-192685786	K562	blood:	n/a	n/a

miRNA name	Chromosome Location	mirBase accession
hsa-miR-4426	chr1:192685463-192685479	MIMAT0018941

Variant related genes	Relation type
MIR4426	TF binding region

Extended variants
information (count: 116 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:116 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144605617	chr1:192682431-192682432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs373199642	chr1:192682458-192682459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs116471941	chr1:192682515-192682516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs568415269	chr1:192682522-192682523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542164911	chr1:192682524-192682525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561644623	chr1:192682537-192682538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs151239577	chr1:192682558-192682559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540757892	chr1:192682564-192682565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564256781	chr1:192682601-192682602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs532892201	chr1:192682615-192682616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552314701	chr1:192682635-192682636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562760326	chr1:192682645-192682646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2146609	chr1:192682671-192682672	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs374107378	chr1:192682684-192682685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200491863	chr1:192682705-192682706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs79989578	chr1:192682713-192682714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575723723	chr1:192682910-192682911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs548501496	chr1:192682923-192682924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs539631746	chr1:192682927-192682928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs558298571	chr1:192682950-192682951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs140458494	chr1:192683012-192683013	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs534240115	chr1:192683064-192683065	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs150154876	chr1:192683144-192683145	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs78991718	chr1:192683145-192683146	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs570883264	chr1:192683150-192683151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs539564748	chr1:192683173-192683174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs145636134	chr1:192683205-192683206	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs576330503	chr1:192683253-192683254	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs535729059	chr1:192683307-192683308	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181442705	chr1:192683308-192683309	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs115260603	chr1:192683327-192683328	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs540479062	chr1:192683355-192683356	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs148874270	chr1:192683370-192683371	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562053606	chr1:192683394-192683395	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs78441858	chr1:192683395-192683396	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577635285	chr1:192683465-192683466	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113210187	chr1:192683467-192683468	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs145504886	chr1:192683531-192683532	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs137924943	chr1:192683535-192683536	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs142492146	chr1:192683536-192683537	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562360347	chr1:192683559-192683560	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs374425271	chr1:192683594-192683595	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs7515417	chr1:192683618-192683619	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs144688726	chr1:192683621-192683622	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs562420541	chr1:192683626-192683627	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs570778227	chr1:192683659-192683660	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs539917354	chr1:192683682-192683683	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs148185998	chr1:192683697-192683698	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs569854173	chr1:192683718-192683719	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs141151451	chr1:192683745-192683746	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Glioblastoma multiforme	21080181	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
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	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
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial carcinoma	21177765	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192677400-192683000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr1:192677800-192682800	Weak transcription	HMEC	breast
3	chr1:192679000-192683200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:192679600-192682800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:192680000-192682800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr1:192680200-192682800	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr1:192681000-192683200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:192682800-192683200	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr1:192682800-192683400	Enhancers	Aorta	Aorta
10	chr1:192682800-192683600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:192682800-192683600	Enhancers	HMEC	breast
12	chr1:192682800-192684000	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr1:192683000-192683600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:192683000-192683800	Enhancers	Stomach Smooth Muscle	stomach
15	chr1:192683200-192683400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:192683200-192683400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:192683200-192684200	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr1:192690600-192695400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr1:192691200-192691800	Enhancers	Rectal Smooth Muscle	rectum
20	chr1:192691200-192692200	Active TSS	Stomach Smooth Muscle	stomach
21	chr1:192691400-192691800	Enhancers	Adipose Nuclei	Adipose
22	chr1:192691400-192691800	Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr1:192691400-192692000	Enhancers	Brain Cingulate Gyrus	brain
24	chr1:192691400-192692000	Enhancers	Colon Smooth Muscle	Colon
25	chr1:192691400-192692200	Enhancers	Brain Anterior Caudate	brain
26	chr1:192691400-192692200	Enhancers	Fetal Lung	lung
27	chr1:192691400-192692200	Enhancers	Right Ventricle	heart
28	chr1:192691400-192692200	Enhancers	HUVEC	blood vessel

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