Variant report

Variant	nsv519691
Chromosome Location	chr2:208938866-208940023
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	CEBPB	chr2:208939806-208939944	K562	blood:	n/a	n/a
2	CEBPB	chr2:208939858-208939891	HepG2	liver:	n/a	n/a
3	CTCF	chr2:208939760-208939910	HCPEpiC	choroid plexus:	n/a	n/a
4	CTCF	chr2:208939660-208939810	HCPEpiC	choroid plexus:	n/a	n/a
5	JUND	chr2:208939737-208939915	HepG2	liver:	n/a	n/a
6	POLR2A	chr2:208939622-208939988	H1-neurons	neurons:	n/a	n/a

Variant related genes	Relation type
ENSG00000238582	TF binding region

Extended variants
information (count: 55 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4234085	chr2:208938866-208938867	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs6723206	chr2:208938967-208938968	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs531624320	chr2:208938970-208938971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs548253799	chr2:208939031-208939032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs539078858	chr2:208939038-208939039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs185407203	chr2:208939050-208939051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs547477877	chr2:208939052-208939053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs558990628	chr2:208939089-208939090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs374840019	chr2:208939101-208939102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs116696010	chr2:208939135-208939136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs189966987	chr2:208939169-208939170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs570302430	chr2:208939170-208939171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs535706463	chr2:208939179-208939180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs151184572	chr2:208939219-208939220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs139200760	chr2:208939220-208939221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs541150766	chr2:208939236-208939237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs200416931	chr2:208939253-208939254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs557574318	chr2:208939256-208939257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs201332428	chr2:208939268-208939269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs147325890	chr2:208939269-208939270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs375581406	chr2:208939270-208939271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs199935311	chr2:208939271-208939272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs200718683	chr2:208939272-208939273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs578038342	chr2:208939289-208939290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs542385341	chr2:208939312-208939313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs545718703	chr2:208939372-208939373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs62192812	chr2:208939383-208939384	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs576258594	chr2:208939412-208939413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs112375950	chr2:208939442-208939443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs561682838	chr2:208939456-208939457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs4675729	chr2:208939493-208939494	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs199881064	chr2:208939496-208939497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs73983681	chr2:208939503-208939504	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs149956099	chr2:208939532-208939533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs4675730	chr2:208939552-208939553	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs113959360	chr2:208939651-208939652	Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs72984917	chr2:208939681-208939682	Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs549240589	chr2:208939743-208939744	Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs566014481	chr2:208939747-208939748	Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs376713296	chr2:208939748-208939749	Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs75188472	chr2:208939758-208939759	Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs6727089	chr2:208939791-208939792	Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs578069935	chr2:208939811-208939812	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs377003039	chr2:208939821-208939822	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs115727518	chr2:208939828-208939829	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs375705910	chr2:208939833-208939834	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs556090823	chr2:208939843-208939844	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs186571096	chr2:208939844-208939845	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs6727122	chr2:208939857-208939858	Enhancers Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs561990515	chr2:208939924-208939925	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Cervical cancer	21062161	CNVD
Intracranial aneurysm	16715129	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	16573809	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Non-small cell lung cancer	21829676	CNVD
Autism	20808228	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:208937200-208939200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr2:208938800-208939800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr2:208939200-208939800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr2:208939200-208940000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:208939200-208940000	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr2:208939400-208940000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr2:208939400-208940200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:208939600-208939800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:208939600-208939800	Flanking Active TSS	Brain Hippocampus Middle	brain
10	chr2:208939600-208939800	Enhancers	Placenta	Placenta
11	chr2:208939600-208940000	Enhancers	Fetal Heart	heart
12	chr2:208939600-208940000	Enhancers	Right Ventricle	heart
13	chr2:208939800-208940000	Active TSS	Brain Hippocampus Middle	brain
14	chr2:208939800-208940000	Enhancers	Rectal Mucosa Donor 31	rectum

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