Variant report

Variant	nsv522738
Chromosome Location	chr2:209684247-209692190
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:3)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:209685011..209685630-chr2:210072613..210073438,3	MCF-7	breast:
2	chr2:209684682..209685324-chr2:209961529..209962479,2	MCF-7	breast:
3	chr2:209684819..209685719-chr2:210072640..210073642,4	MCF-7	breast:

(count:8 , 50 per page) page: 1

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

No data

Extended variants
information (count: 85 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:85 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567600223	chr2:209684608-209684609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs536639973	chr2:209684631-209684632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs549014574	chr2:209684642-209684643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs11889937	chr2:209684715-209684716	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs552453019	chr2:209684731-209684732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs534528041	chr2:209684785-209684786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557498249	chr2:209684786-209684787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs149178868	chr2:209684812-209684813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs10167664	chr2:209684939-209684940	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs557018614	chr2:209684977-209684978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs143404969	chr2:209685009-209685010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs542569847	chr2:209685033-209685034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs559799953	chr2:209685040-209685041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs372619880	chr2:209685045-209685046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs192936296	chr2:209685087-209685088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs545699440	chr2:209685097-209685098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs565505740	chr2:209685102-209685103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs375831586	chr2:209685184-209685185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs148367488	chr2:209685229-209685230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs142716587	chr2:209685251-209685252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs183601299	chr2:209685265-209685266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs546942852	chr2:209685347-209685348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs565848874	chr2:209685372-209685373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs7606401	chr2:209685434-209685435	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs551242175	chr2:209685457-209685458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs571159303	chr2:209685496-209685497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs147351789	chr2:209685517-209685518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs75905215	chr2:209685570-209685571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs188350050	chr2:209685571-209685572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs200116561	chr2:209685590-209685591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs552900004	chr2:209685599-209685600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs572854226	chr2:209685659-209685660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs568196750	chr2:209685668-209685669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs545760928	chr2:209685684-209685685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs565568616	chr2:209685692-209685693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs372316437	chr2:209685788-209685789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs575917998	chr2:209685835-209685836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs544742318	chr2:209685846-209685847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs112243305	chr2:209685879-209685880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs192421747	chr2:209685913-209685914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs184565218	chr2:209685914-209685915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs189401535	chr2:209685949-209685950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs138055138	chr2:209685953-209685954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs535521394	chr2:209685964-209685965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs532371044	chr2:209685967-209685968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs181473441	chr2:209685977-209685978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs187000929	chr2:209685986-209685987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs530622828	chr2:209686002-209686003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs373878493	chr2:209686031-209686032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs143534157	chr2:209686033-209686034	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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209684600-209685200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:209684600-209685400	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr2:209684600-209685400	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr2:209684600-209685600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:209684600-209686200	Enhancers	Fetal Heart	heart
6	chr2:209684800-209685200	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr2:209684800-209685400	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr2:209684800-209685600	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr2:209685000-209685400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:209685000-209685400	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr2:209685000-209685600	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr2:209691600-209692400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:209691800-209692800	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr2:209692000-209692800	Enhancers	Fetal Heart	heart
15	chr2:209692000-209692800	Enhancers	Pancreas	Pancrea
16	chr2:209692000-209692800	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr2:209692000-209693000	Enhancers	HUES48 Cell Line	embryonic stem cell

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