Variant report

Variant	nsv875759
Chromosome Location	chr2:209692190-209784089
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:145)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:18)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:145 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr2:209737301-209737657	GM12878	blood:	n/a	n/a
2	BATF	chr2:209737343-209737641	GM12878	blood:	n/a	chr2:209737513-209737524 chr2:209737496-209737506 chr2:209737495-209737506
3	BATF	chr2:209737400-209737654	GM12878	blood:	n/a	chr2:209737513-209737524 chr2:209737496-209737506 chr2:209737495-209737506
4	BCL3	chr2:209737244-209737665	GM12878	blood:	n/a	chr2:209737495-209737504
5	BRCA1	chr2:209717948-209717972	H1-hESC	embryonic stem cell:	n/a	n/a
6	CBX3	chr2:209719485-209719729	K562	blood:	n/a	n/a
7	CEBPB	chr2:209695475-209695722	HepG2	liver:	n/a	n/a
8	CEBPB	chr2:209780201-209780442	HepG2	liver:	n/a	chr2:209780302-209780313
9	CEBPB	chr2:209737278-209737281	H1-hESC	embryonic stem cell:	n/a	n/a
10	CEBPB	chr2:209780898-209781061	HepG2	liver:	n/a	n/a
11	CEBPB	chr2:209748167-209748390	HepG2	liver:	n/a	n/a
12	CEBPB	chr2:209748242-209748361	A549	lung:	n/a	n/a
13	CEBPB	chr2:209780940-209781055	A549	lung:	n/a	n/a
14	CTCF	chr2:209768459-209768551	LNCaP	prostate:	n/a	n/a
15	CTCF	chr2:209771695-209771751	GM19240	blood:	n/a	n/a
16	CTCF	chr2:209771700-209771787	GM12892	blood:	n/a	n/a
17	CTCF	chr2:209771620-209771770	GM12875	blood:	n/a	n/a
18	CTCF	chr2:209771721-209771777	GM12878	blood:	n/a	n/a
19	CTCF	chr2:209725378-209725454	ProgFib	skin:	n/a	n/a
20	CTCF	chr2:209777689-209777747	Kidney_OC	kidney:	n/a	n/a
21	CTCF	chr2:209705690-209705789	Kidney_OC	kidney:	n/a	n/a
22	CTCF	chr2:209764691-209764756	HepG2	liver:	n/a	n/a
23	CTCF	chr2:209738140-209738290	BE2_C	brain:	n/a	n/a
24	CTCF	chr2:209725340-209725490	GM12867	blood:	n/a	n/a
25	CTCF	chr2:209766623-209766657	Kidney_OC	kidney:	n/a	n/a
26	CTCF	chr2:209771762-209771763	HepG2	liver:	n/a	n/a
27	CTCF	chr2:209714789-209714791	LNCaP	prostate:	n/a	n/a
28	CTCF	chr2:209771719-209771760	GM19238	blood:	n/a	n/a
29	CTCF	chr2:209743568-209743588	Lung_OC	lung:	n/a	n/a
30	CTCF	chr2:209771700-209771793	GM19239	blood:	n/a	n/a
31	CTCF	chr2:209697072-209697141	Kidney_OC	kidney:	n/a	n/a
32	CTCF	chr2:209728614-209728708	Kidney_OC	kidney:	n/a	n/a
33	CTCF	chr2:209772960-209773032	GM20000	blood:	n/a	n/a
34	CTCF	chr2:209714735-209714783	LNCaP	prostate:	n/a	n/a
35	CTCF	chr2:209771500-209771650	GM12873	blood:	n/a	n/a
36	E2F4	chr2:209737322-209737655	MCF10A-Er-Src	breast:	n/a	n/a
37	E2F4	chr2:209772456-209772540	MCF10A-Er-Src	breast:	n/a	n/a
38	EBF1	chr2:209740339-209740376	GM12878	blood:	n/a	n/a
39	EBF1	chr2:209737363-209737670	GM12878	blood:	n/a	n/a
40	EGR1	chr2:209750170-209750418	K562	blood:	n/a	n/a
41	EP300	chr2:209775704-209775819	K562	blood:	n/a	n/a
42	EP300	chr2:209731692-209731989	SK-N-SH_RA	brain:	n/a	n/a
43	EP300	chr2:209731652-209732163	SK-N-SH_RA	brain:	n/a	n/a
44	EP300	chr2:209737367-209737578	GM12878	blood:	n/a	chr2:209737531-209737538 chr2:209737380-209737390 chr2:209737441-209737448 chr2:209737495-209737504
45	FOS	chr2:209757659-209757951	MCF10A-Er-Src	breast:	n/a	n/a
46	FOS	chr2:209733813-209734021	MCF10A-Er-Src	breast:	n/a	n/a
47	FOS	chr2:209737322-209737693	MCF10A-Er-Src	breast:	n/a	chr2:209737494-209737503
48	FOS	chr2:209757720-209757920	MCF10A-Er-Src	breast:	n/a	n/a
49	FOS	chr2:209733789-209734084	MCF10A-Er-Src	breast:	n/a	n/a
50	FOS	chr2:209757655-209757927	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:209742377..209744690-chr2:209780738..209782515,2	MCF-7	breast:
2	chr2:209742377..209744690-chr2:209780738..209782515,2	MCF-7	breast:
3	chr2:209781804..209784623-chr2:209788415..209790919,2	K562	blood:
4	chr2:209735243..209737583-chr2:209791318..209793308,2	MCF-7	breast:
5	chr2:209736383..209738259-chr2:210013383..210015250,2	MCF-7	breast:

(count:18 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PTH2R-1	chr2:209719024-209720220	NONHSAT076645
2	lnc-PTH2R-1	chr2:209706409-209706507	NONHSAT147141
3	lnc-PTH2R-1	chr2:209719024-209719090	NONHSAT147141
4	lnc-PTH2R-1	chr2:209709858-209709950	NONHSAT076651
5	lnc-PTH2R-1	chr2:209719024-209720220	NONHSAT076646
6	lnc-PTH2R-1	chr2:209719024-209723402	NONHSAT076650
7	lnc-PTH2R-1	chr2:209709858-209709950	NONHSAT076646
8	lnc-PTH2R-1	chr2:209719024-209723402	NONHSAT076648
9	lnc-PTH2R-1	chr2:209709858-209709950	NONHSAT076648
10	lnc-PTH2R-1	chr2:209709855-209709950	NONHSAT076645
11	lnc-PTH2R-1	chr2:209703087-209703135	NONHSAT076651
12	lnc-PTH2R-1	chr2:209709858-209709950	NONHSAT147141
13	lnc-PTH2R-1	chr2:209709858-209709950	NONHSAT076650
14	lnc-PTH2R-1	chr2:209719024-209719227	NONHSAT076651
15	lnc-PTH2R-1	chr2:209704710-209704818	NONHSAT076651
16	lnc-PTH2R-1	chr2:209706405-209706507	NONHSAT076651
17	lnc-PTH2R-1	chr2:209719024-209723402	NONHSAT076649
18	lnc-PTH2R-1	chr2:209709858-209709950	NONHSAT076649

No data

Variant related genes	Relation type
PTH2R	TF binding region

Extended variants
information (count: 1204 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:1204 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4638727	chr2:209692190-209692191	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs536664408	chr2:209692228-209692229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs372311673	chr2:209692282-209692283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs116092693	chr2:209692298-209692299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs111604663	chr2:209692302-209692303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs150629651	chr2:209692392-209692393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs543732728	chr2:209692404-209692405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182169985	chr2:209692440-209692441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs535274883	chr2:209692469-209692470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs573488471	chr2:209692484-209692485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs561926515	chr2:209692498-209692499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs4350683	chr2:209692509-209692510	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs531066331	chr2:209692524-209692525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs544354907	chr2:209692546-209692547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs561379675	chr2:209692548-209692549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs188048330	chr2:209692564-209692565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs548874121	chr2:209692644-209692645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs193057571	chr2:209692680-209692681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs185823670	chr2:209692683-209692684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs188839955	chr2:209692692-209692693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs551127397	chr2:209692694-209692695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs192047649	chr2:209692701-209692702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs540312577	chr2:209692703-209692704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs376435698	chr2:209692737-209692738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs537178777	chr2:209692799-209692800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs556780079	chr2:209692812-209692813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs75357650	chr2:209692840-209692841	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184551038	chr2:209692883-209692884	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553707480	chr2:209692886-209692887	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs151288483	chr2:209692908-209692909	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573542148	chr2:209692946-209692947	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545699181	chr2:209692951-209692952	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs148216498	chr2:209692953-209692954	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs575743571	chr2:209692958-209692959	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs370876625	chr2:209693005-209693006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188523288	chr2:209693007-209693008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs11369293	chr2:209693024-209693025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs397769957	chr2:209693037-209693038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532862735	chr2:209693116-209693117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs114004238	chr2:209693148-209693149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs530038881	chr2:209693178-209693179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181380213	chr2:209693268-209693269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559239058	chr2:209693305-209693306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528405912	chr2:209693317-209693318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs6435477	chr2:209693319-209693320	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs571466237	chr2:209693323-209693324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530611581	chr2:209693324-209693325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538007071	chr2:209693378-209693379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs11432437	chr2:209693429-209693430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs141274795	chr2:209693501-209693502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209691600-209692400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:209691800-209692800	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr2:209692000-209692800	Enhancers	Fetal Heart	heart
4	chr2:209692000-209692800	Enhancers	Pancreas	Pancrea
5	chr2:209692000-209692800	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr2:209692000-209693000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr2:209692400-209692800	Enhancers	Sigmoid Colon	Sigmoid Colon
8	chr2:209692800-209693800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr2:209692800-209694000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr2:209692800-209694400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr2:209693800-209694400	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr2:209694200-209695600	Enhancers	Rectal Mucosa Donor 29	rectum
13	chr2:209694400-209695400	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr2:209710600-209713400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr2:209712400-209713400	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr2:209718200-209718600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:209719200-209720000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
18	chr2:209721000-209721600	Enhancers	Colon Smooth Muscle	Colon
19	chr2:209725000-209727800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr2:209736400-209736600	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr2:209736600-209737800	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr2:209736800-209738400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr2:209737000-209737400	Enhancers	Hela-S3	cervix
24	chr2:209737400-209738400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:209737800-209738400	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr2:209743800-209745200	Enhancers	Placenta Amnion	Placenta Amnion
27	chr2:209752800-209753200	Enhancers	Placenta Amnion	Placenta Amnion
28	chr2:209753400-209754000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr2:209754000-209756800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr2:209756400-209757600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr2:209756800-209757000	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr2:209756800-209757200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr2:209756800-209757600	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr2:209756800-209757600	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr2:209757200-209758200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr2:209758200-209758600	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr2:209758200-209758600	Enhancers	Fetal Heart	heart
38	chr2:209767400-209767600	Active TSS	ES-I3 Cell Line	embryonic stem cell
39	chr2:209767600-209770200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr2:209770000-209770800	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr2:209770000-209772000	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr2:209770000-209772200	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr2:209770200-209772200	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr2:209770800-209771000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr2:209770800-209771600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr2:209770800-209771600	Enhancers	H9 Cell Line	embryonic stem cell
47	chr2:209770800-209772400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr2:209771000-209771200	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr2:209771000-209771600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr2:209771000-209772000	Enhancers	iPS-20b Cell Line	embryonic stem cell

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