Variant report

Variant	nsv1010747
Chromosome Location	chr2:209654973-209692020
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:7)
LncRNA
region (count:10)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:209684819..209685719-chr2:210072640..210073642,4	MCF-7	breast:
2	chr2:209685011..209685630-chr2:210072613..210073438,3	MCF-7	breast:
3	chr2:209658091..209661078-chr2:209663650..209665764,2	K562	blood:
4	chr2:209684682..209685324-chr2:209961529..209962479,2	MCF-7	breast:
5	chr17:57913918..57916820-chr2:209672762..209674556,2	MCF-7	breast:
6	chr16:12332624..12333395-chr2:209658770..209659354,2	MCF-7	breast:
7	chr2:209658091..209661078-chr2:209663650..209665764,2	K562	blood:

(count:10 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PTH2R-1	chr2:209674176-209674279	NONHSAT076647
2	lnc-PTH2R-1	chr2:209688919-209689074	NONHSAT076648
3	lnc-PTH2R-1	chr2:209674170-209674289	NONHSAT076649
4	lnc-PTH2R-1	chr2:209690123-209690431	NONHSAT076648
5	lnc-PTH2R-1	chr2:209688919-209689074	NONHSAT076646
6	lnc-PTH2R-1	chr2:209688919-209689074	NONHSAT076649
7	lnc-PTH2R-1	chr2:209687215-209687279	NONHSAT076649
8	lnc-PTH2R-1	chr2:209688900-209689074	NONHSAT076650
9	lnc-PTH2R-1	chr2:209688919-209689074	NONHSAT076645
10	lnc-PTH2R-1	chr2:209690123-209690431	NONHSAT076650

No data

Variant related genes	Relation type
ENSG00000062716	chromatin interactions

Extended variants
information (count: 404 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:404 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143472009	chr2:209658434-209658435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs73056313	chr2:209658463-209658464	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs549022123	chr2:209658476-209658477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs565823635	chr2:209658500-209658501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs188334468	chr2:209658526-209658527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs551462143	chr2:209658536-209658537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs570756020	chr2:209658559-209658560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs539318269	chr2:209658640-209658641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs375763928	chr2:209658653-209658654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs556414229	chr2:209658675-209658676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs576257753	chr2:209658714-209658715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs146259414	chr2:209658743-209658744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs112871078	chr2:209658770-209658771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs376054978	chr2:209658870-209658871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs572044467	chr2:209658936-209658937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs978469	chr2:209659046-209659047	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs181809089	chr2:209659065-209659066	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs578210348	chr2:209659091-209659092	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs549642190	chr2:209659101-209659102	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs116080607	chr2:209659126-209659127	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs529483738	chr2:209659171-209659172	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs548263853	chr2:209659178-209659179	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs149763483	chr2:209659182-209659183	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs145781086	chr2:209659189-209659190	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs528560142	chr2:209659196-209659197	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs148949434	chr2:209659197-209659198	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs6732651	chr2:209659222-209659223	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs115071492	chr2:209659285-209659286	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs185684190	chr2:209659290-209659291	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs190693156	chr2:209659292-209659293	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs181569652	chr2:209659301-209659302	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs186986645	chr2:209659309-209659310	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs527486239	chr2:209659408-209659409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs555579844	chr2:209659419-209659420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs565804454	chr2:209659438-209659439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs189410009	chr2:209659456-209659457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs76918738	chr2:209659471-209659472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs181410410	chr2:209659493-209659494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs185311051	chr2:209659520-209659521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs189972350	chr2:209659527-209659528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs145606873	chr2:209659591-209659592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs147680894	chr2:209663021-209663022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs140941266	chr2:209663040-209663041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs73056382	chr2:209663049-209663050	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs191930017	chr2:209663057-209663058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs144786838	chr2:209663101-209663102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs564285541	chr2:209663165-209663166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs539869801	chr2:209663178-209663179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs556128145	chr2:209663190-209663191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs575183268	chr2:209663200-209663201	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Glioma	20126413	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209658400-209659400	Enhancers	HepG2	liver
2	chr2:209658600-209659000	Enhancers	Liver	Liver
3	chr2:209658600-209659400	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr2:209659000-209659400	Flanking Active TSS	Liver	Liver
5	chr2:209659400-209659600	Enhancers	Liver	Liver
6	chr2:209663000-209664000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:209663200-209664000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:209663400-209664000	Enhancers	H9 Cell Line	embryonic stem cell
9	chr2:209665200-209665800	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr2:209672000-209673000	Active TSS	A549	lung
11	chr2:209672400-209672800	Enhancers	HMEC	breast
12	chr2:209674200-209674800	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr2:209674200-209675600	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr2:209674600-209675000	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr2:209676200-209676600	Active TSS	A549	lung
16	chr2:209684600-209685200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr2:209684600-209685400	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr2:209684600-209685400	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr2:209684600-209685600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:209684600-209686200	Enhancers	Fetal Heart	heart
21	chr2:209684800-209685200	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr2:209684800-209685400	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr2:209684800-209685600	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr2:209685000-209685400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:209685000-209685400	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr2:209685000-209685600	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr2:209691600-209692400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:209691800-209692800	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr2:209692000-209692800	Enhancers	Fetal Heart	heart
30	chr2:209692000-209692800	Enhancers	Pancreas	Pancrea
31	chr2:209692000-209692800	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr2:209692000-209693000	Enhancers	HUES48 Cell Line	embryonic stem cell

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