Variant report

Variant	nsv875745
Chromosome Location	chr2:208969865-208994045
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:122)
CpG islands
(count:1342)
Chromatin interactive
region (count:5)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:122 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr2:208989435-208989474	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr2:208971322-208971335	H1-hESC	embryonic stem cell:	n/a	n/a
3	BRCA1	chr2:208977581-208978020	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr2:208976666-208976729	H1-hESC	embryonic stem cell:	n/a	n/a
5	CEBPB	chr2:208984500-208984694	HepG2	liver:	n/a	chr2:208984649-208984660
6	CEBPB	chr2:208977669-208978022	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr2:208977579-208978082	MCF-7	breast:	n/a	n/a
8	CTCF	chr2:208977340-208977490	HEK293	kidney:	n/a	n/a
9	CTCF	chr2:208980609-208980614	GM20000	blood:	n/a	n/a
10	EBF1	chr2:208979719-208979944	GM12878	blood:	n/a	n/a
11	EBF1	chr2:208979727-208979939	GM12878	blood:	n/a	n/a
12	EP300	chr2:208977697-208978032	Hela-S3	cervix:	n/a	n/a
13	EP300	chr2:208989076-208989430	H1-hESC	embryonic stem cell:	n/a	chr2:208989351-208989365 chr2:208989353-208989367
14	FOXA1	chr2:208977665-208977947	T-47D	breast:	n/a	chr2:208977821-208977836
15	FOXA1	chr2:208990002-208990238	HepG2	liver:	n/a	n/a
16	FOXA1	chr2:208977687-208978007	T-47D	breast:	n/a	chr2:208977821-208977836
17	FOXA1	chr2:208989948-208990316	HepG2	liver:	n/a	n/a
18	FOXA1	chr2:208981635-208981884	HepG2	liver:	n/a	n/a
19	FOXA2	chr2:208981605-208981868	HepG2	liver:	n/a	n/a
20	FOXA2	chr2:208990027-208990244	HepG2	liver:	n/a	n/a
21	GATA2	chr2:208977776-208978015	SH-SY5Y	brain:	n/a	chr2:208977894-208977901
22	GATA2	chr2:208982079-208982439	K562	blood:	n/a	n/a
23	GATA3	chr2:208977683-208978104	MCF-7	breast:	n/a	chr2:208977894-208977901
24	GATA3	chr2:208977672-208978004	T-47D	breast:	n/a	chr2:208977894-208977901
25	GATA3	chr2:208977518-208978320	MCF-7	breast:	n/a	chr2:208977894-208977901
26	GATA3	chr2:208977680-208977997	T-47D	breast:	n/a	chr2:208977894-208977901
27	GATA3	chr2:208977691-208977969	MCF-7	breast:	n/a	chr2:208977894-208977901
28	GATA3	chr2:208977479-208978321	MCF-7	breast:	n/a	chr2:208977894-208977901
29	GTF2F1	chr2:208977428-208977977	H1-hESC	embryonic stem cell:	n/a	n/a
30	HDAC2	chr2:208977563-208978158	MCF-7	breast:	n/a	n/a
31	HDAC2	chr2:208977673-208978123	MCF-7	breast:	n/a	n/a
32	IRF1	chr2:208977828-208977969	K562	blood:	n/a	n/a
33	JUN	chr2:208989453-208989476	H1-hESC	embryonic stem cell:	n/a	n/a
34	JUND	chr2:208977914-208978040	H1-hESC	embryonic stem cell:	n/a	n/a
35	JUND	chr2:208986075-208986320	HepG2	liver:	n/a	n/a
36	KAP1	chr2:208977575-208978211	HEK293	kidney:	n/a	n/a
37	KAP1	chr2:208977537-208978187	U2OS	brain:	n/a	n/a
38	MAX	chr2:208977635-208978076	Hela-S3	cervix:	n/a	n/a
39	MAX	chr2:208989020-208989338	H1-hESC	embryonic stem cell:	n/a	n/a
40	MAX	chr2:208977552-208978187	MCF-7	breast:	n/a	n/a
41	MAX	chr2:208976514-208976575	H1-hESC	embryonic stem cell:	n/a	n/a
42	MAX	chr2:208977641-208978157	MCF-7	breast:	n/a	n/a
43	MAX	chr2:208977636-208978123	H1-hESC	embryonic stem cell:	n/a	n/a
44	MAX	chr2:208976749-208977004	H1-hESC	embryonic stem cell:	n/a	n/a
45	MAX	chr2:208977703-208978076	Hela-S3	cervix:	n/a	n/a
46	MAZ	chr2:208977734-208978110	Hela-S3	cervix:	n/a	n/a
47	MYC	chr2:208977803-208977816	Hela-S3	cervix:	n/a	n/a
48	MYC	chr2:208988856-208989006	MCF-7	breast:	n/a	n/a
49	NR2F2	chr2:208977559-208978214	MCF-7	breast:	n/a	n/a
50	NR2F2	chr2:208982125-208982427	K562	blood:	n/a	n/a

(count:1342 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:208988453-208988503	Hela-S3	cervix:	n/a
2	chr2:208989579-208989629	SK-N-MC	brain:	n/a
3	chr2:208989324-208989374	GM12878	blood:	n/a
4	chr2:208977121-208977171	HEK293	kidney:	embryo
5	chr2:208989579-208989629	CMK	blood:	n/a
6	chr2:208993094-208993144	HepG2	liver:	n/a
7	chr2:208988932-208988982	HRE	kidney:	n/a
8	chr2:208989831-208989881	LNCaP	prostate:	n/a
9	chr2:208989831-208989881	GM12891	blood:	n/a
10	chr2:208989209-208989259	BE2_C	brain:	n/a
11	chr2:208976637-208976687	SK-N-MC	brain:	n/a
12	chr2:208986497-208986547	RPTEC	kidney:	n/a
13	chr2:208977395-208977445	NT2-D1	testis:	n/a
14	chr2:208976637-208976687	PANC-1	pancreas:	n/a
15	chr2:208977452-208977502	ovcar-3	ovarian:	n/a
16	chr2:208989248-208989298	PANC-1	pancreas:	n/a
17	chr2:208993094-208993144	GM12892	blood:	n/a
18	chr2:208988967-208989017	GM19239	blood:	n/a
19	chr2:208986497-208986547	NH-A	brain:	n/a
20	chr2:208975126-208975176	HRCEpiC	kidney:	n/a
21	chr2:208989469-208989519	HMEC	breast:	n/a
22	chr2:208973097-208973147	ProgFib	skin:	n/a
23	chr2:208989248-208989298	T-47D	breast:	n/a
24	chr2:208988863-208988913	SK-N-MC	brain:	n/a
25	chr2:208989248-208989298	PFSK-1	brain:	n/a
26	chr2:208988453-208988503	MCF10A-Er-Src	breast:	n/a
27	chr2:208976637-208976687	AoSMC	blood vessel:	n/a
28	chr2:208988932-208988982	GM12891	blood:	n/a
29	chr2:208988967-208989017	AG04449	skin:	fetal
30	chr2:208989469-208989519	NB4	blood:	n/a
31	chr2:208986497-208986547	NB4	blood:	n/a
32	chr2:208993094-208993144	T-47D	breast:	n/a
33	chr2:208989324-208989374	PrEC	prostate:	n/a
34	chr2:208990238-208990288	SKMC	muscle:	n/a
35	chr2:208989248-208989298	GM12892	blood:	n/a
36	chr2:208989469-208989519	HRPEpiC	eye:	n/a
37	chr2:208977395-208977445	HL-60	blood:	n/a
38	chr2:208989248-208989298	MCF10A-Er-Src	breast:	n/a
39	chr2:208977452-208977502	BJ	skin:	n/a
40	chr2:208976637-208976687	RPTEC	kidney:	n/a
41	chr2:208989209-208989259	GM12878	blood:	n/a
42	chr2:208988967-208989017	NHBE	bronchial:	n/a
43	chr2:208977121-208977171	ProgFib	skin:	n/a
44	chr2:208973097-208973147	SKMC	muscle:	n/a
45	chr2:208975126-208975176	HUVEC	blood vessel:	n/a
46	chr2:208977121-208977171	PrEC	prostate:	n/a
47	chr2:208977452-208977502	U87	brain:	n/a
48	chr2:208988967-208989017	HepG2	liver:	n/a
49	chr2:208989831-208989881	HMEC	breast:	n/a
50	chr2:208989579-208989629	SK-N-SH_RA	brain:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr2:208973001..208975909-chr2:208979754..208981880,3	MCF-7	breast:
2	chr2:208989109..208991585-chr2:208994453..208996077,2	K562	blood:
3	chr2:208969150..208970998-chr2:208972838..208975738,2	K562	blood:
4	chr2:208973001..208975909-chr2:208979754..208981880,3	MCF-7	breast:
5	chr2:208969150..208970998-chr2:208972838..208975738,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PIKFYVE-4	chr2:208993179-208993284	NONHSAT076631
2	lnc-PIKFYVE-4	chr2:208983830-208983949	NONHSAT076631
3	lnc-PIKFYVE-4	chr2:208983853-208983949	NONHSAT076632
4	lnc-PIKFYVE-4	chr2:208983830-208983949	NONHSAT076630

No data

Variant related genes	Relation type
CRYGEP	TF binding region
CRYGD	TF binding region
CRYGEP	CpG island
CRYGD	CpG island
ENSG00000163254	chromatin interactions

Extended variants
information (count: 1166 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:1166 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2084872	chr2:208969865-208969866	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs375907656	chr2:208969877-208969878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs199767166	chr2:208969901-208969902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs397987573	chr2:208969921-208969922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs142517392	chr2:208969929-208969930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs558227476	chr2:208969951-208969952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556309806	chr2:208969966-208969967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576457211	chr2:208969996-208969997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs576209527	chr2:208970006-208970007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542151090	chr2:208970016-208970017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553660547	chr2:208970029-208970030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562037001	chr2:208970048-208970049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs527732259	chr2:208970052-208970053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573759715	chr2:208970088-208970089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564435000	chr2:208970119-208970120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533433553	chr2:208970126-208970127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs75190055	chr2:208970193-208970194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs543942621	chr2:208970195-208970196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375046132	chr2:208970221-208970222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs150498194	chr2:208970222-208970223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531521383	chr2:208970240-208970241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113156540	chr2:208970263-208970264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181150292	chr2:208970275-208970276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs186734519	chr2:208970299-208970300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190776457	chr2:208970330-208970331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs139516048	chr2:208970340-208970341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562176187	chr2:208970366-208970367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs566082530	chr2:208970382-208970383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs143264520	chr2:208970390-208970391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555825754	chr2:208970405-208970406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576270310	chr2:208970406-208970407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535650767	chr2:208970412-208970413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs555788783	chr2:208970419-208970420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs572660477	chr2:208970423-208970424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs55936323	chr2:208970446-208970447	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs180919543	chr2:208970468-208970469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577939726	chr2:208970484-208970485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs58208558	chr2:208970495-208970496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543971376	chr2:208970500-208970501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563768120	chr2:208970511-208970512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370146254	chr2:208970512-208970513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs374712967	chr2:208970553-208970554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548362829	chr2:208970562-208970563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187018276	chr2:208970565-208970566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7349197	chr2:208970608-208970609	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs547353341	chr2:208970612-208970613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs140330857	chr2:208970615-208970616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs539037943	chr2:208970649-208970650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs549513912	chr2:208970650-208970651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs541254977	chr2:208970678-208970679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
Breast cancer	22522925	CNVD

Chromatin state (count:315 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:208965000-208976600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:208967400-208972000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:208967400-208976800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:208968600-208970600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:208968600-208972000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr2:208969400-208971800	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr2:208969400-208972000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr2:208969400-208976600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr2:208970600-208970800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:208970800-208971400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr2:208971000-208971400	Enhancers	Placenta Amnion	Placenta Amnion
12	chr2:208971200-208972200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr2:208971400-208971800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:208971800-208972000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr2:208971800-208972600	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr2:208972000-208973000	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr2:208972000-208973000	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr2:208972000-208973200	Enhancers	H1 Cell Line	embryonic stem cell
19	chr2:208972000-208973200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr2:208972200-208972600	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr2:208972200-208972800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr2:208972600-208976200	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr2:208972600-208976600	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr2:208972800-208973200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr2:208973000-208973200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr2:208973000-208975600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr2:208973000-208976200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr2:208973200-208975600	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr2:208973200-208976600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr2:208973200-208976800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr2:208973200-208989000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr2:208975600-208976200	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr2:208975600-208976400	Enhancers	H1 Cell Line	embryonic stem cell
34	chr2:208976000-208976200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr2:208976200-208976400	Active TSS	HUES64 Cell Line	embryonic stem cell
36	chr2:208976200-208976400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr2:208976200-208976400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr2:208976200-208976600	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr2:208976200-208977600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr2:208976400-208976600	Active TSS	H1 Cell Line	embryonic stem cell
41	chr2:208976400-208976600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
42	chr2:208976400-208976600	Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chr2:208976400-208976600	Active TSS	iPS-20b Cell Line	embryonic stem cell
44	chr2:208976600-208976800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr2:208976600-208976800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
46	chr2:208976600-208976800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr2:208976600-208976800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
48	chr2:208976600-208976800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr2:208976600-208976800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
50	chr2:208976600-208976800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell

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