Variant report

Variant	nsv525152
Chromosome Location	chr2:209659222-209676037
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr16:12332624..12333395-chr2:209658770..209659354,2	MCF-7	breast:
2	chr2:209658091..209661078-chr2:209663650..209665764,2	K562	blood:
3	chr2:209658091..209661078-chr2:209663650..209665764,2	K562	blood:
4	chr17:57913918..57916820-chr2:209672762..209674556,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PTH2R-1	chr2:209674170-209674289	NONHSAT076649
2	lnc-PTH2R-1	chr2:209674176-209674279	NONHSAT076647

No data

Variant related genes	Relation type
ENSG00000062716	chromatin interactions

Extended variants
information (count: 267 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:267 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6732651	chr2:209659222-209659223	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs115071492	chr2:209659285-209659286	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs185684190	chr2:209659290-209659291	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs190693156	chr2:209659292-209659293	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs181569652	chr2:209659301-209659302	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs186986645	chr2:209659309-209659310	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs527486239	chr2:209659408-209659409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs555579844	chr2:209659419-209659420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs565804454	chr2:209659438-209659439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs189410009	chr2:209659456-209659457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs76918738	chr2:209659471-209659472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs181410410	chr2:209659493-209659494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs185311051	chr2:209659520-209659521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs189972350	chr2:209659527-209659528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs145606873	chr2:209659591-209659592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs147680894	chr2:209663021-209663022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs140941266	chr2:209663040-209663041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs73056382	chr2:209663049-209663050	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs191930017	chr2:209663057-209663058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs144786838	chr2:209663101-209663102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs564285541	chr2:209663165-209663166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs539869801	chr2:209663178-209663179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs556128145	chr2:209663190-209663191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs575183268	chr2:209663200-209663201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs537699633	chr2:209663254-209663255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs4672537	chr2:209663256-209663257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs574538634	chr2:209663258-209663259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs540035214	chr2:209663275-209663276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs145882108	chr2:209663324-209663325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs576859249	chr2:209663339-209663340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs149001423	chr2:209663389-209663390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs73056383	chr2:209663409-209663410	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs532067399	chr2:209663426-209663427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs369894306	chr2:209663470-209663471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs143470412	chr2:209663471-209663472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs562230619	chr2:209663503-209663504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs150928627	chr2:209663576-209663577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs140755856	chr2:209663590-209663591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs570966630	chr2:209663597-209663598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs144697134	chr2:209663648-209663649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs1517350	chr2:209663702-209663703	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs569685311	chr2:209663718-209663719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs7566778	chr2:209663735-209663736	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs73056384	chr2:209663748-209663749	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs186654508	chr2:209663806-209663807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs6715939	chr2:209663832-209663833	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs553648429	chr2:209663837-209663838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs570534729	chr2:209663847-209663848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs550039927	chr2:209663855-209663856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs371106424	chr2:209663856-209663857	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
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
Breast cancer	17603634	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
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
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Non-small cell lung cancer	21829676	CNVD
Autism	20808228	CNVD
Renal cell carcinoma	18765545	CNVD
Ovarian cancer	19193619	CNVD
Non-small cell lung cancer	18676828	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Urothelial cell carcinoma	18451213	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Bipolar disorder	19114987	CNVD
Developmental delay	21147756	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209658400-209659400	Enhancers	HepG2	liver
2	chr2:209658600-209659400	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr2:209659000-209659400	Flanking Active TSS	Liver	Liver
4	chr2:209659400-209659600	Enhancers	Liver	Liver
5	chr2:209663000-209664000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:209663200-209664000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:209663400-209664000	Enhancers	H9 Cell Line	embryonic stem cell
8	chr2:209665200-209665800	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr2:209672000-209673000	Active TSS	A549	lung
10	chr2:209672400-209672800	Enhancers	HMEC	breast
11	chr2:209674200-209674800	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr2:209674200-209675600	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr2:209674600-209675000	Enhancers	HUES64 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links