Variant report

Variant	nsv875748
Chromosome Location	chr2:208994399-209033557
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:209000780-209001095	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:209007979-209008346	HepG2	liver:	n/a	n/a
3	ARID3A	chr2:208994943-208995512	HepG2	liver:	n/a	n/a
4	ATF1	chr2:209017982-209018379	K562	blood:	n/a	n/a
5	BHLHE40	chr2:208994968-208995359	HepG2	liver:	n/a	n/a
6	BHLHE40	chr2:209008083-209008246	HepG2	liver:	n/a	n/a
7	CBX3	chr2:209003034-209003342	K562	blood:	n/a	n/a
8	CEBPB	chr2:209008228-209008405	H1-hESC	embryonic stem cell:	n/a	chr2:209008282-209008293
9	CEBPB	chr2:209008096-209008450	HepG2	liver:	n/a	chr2:209008282-209008293
10	CEBPB	chr2:209000790-209001064	HepG2	liver:	n/a	n/a
11	CEBPB	chr2:209028041-209028161	HepG2	liver:	n/a	n/a
12	CEBPB	chr2:209008211-209008348	K562	blood:	n/a	chr2:209008282-209008293
13	CEBPB	chr2:209021185-209021537	HepG2	liver:	n/a	chr2:209021351-209021362
14	CEBPB	chr2:209008160-209008462	HepG2	liver:	n/a	chr2:209008282-209008293
15	CEBPB	chr2:209008123-209008413	HepG2	liver:	n/a	chr2:209008282-209008293
16	CEBPB	chr2:209021266-209021445	K562	blood:	n/a	chr2:209021351-209021362
17	CEBPB	chr2:209014439-209014665	HepG2	liver:	n/a	chr2:209014599-209014612 chr2:209014599-209014610 chr2:209014601-209014612
18	CEBPB	chr2:208994773-208995164	Hela-S3	cervix:	n/a	chr2:208994983-208994994
19	CEBPB	chr2:209008126-209008461	HepG2	liver:	n/a	chr2:209008282-209008293
20	CEBPB	chr2:209014451-209014800	MCF-7	breast:	n/a	chr2:209014599-209014612 chr2:209014599-209014610 chr2:209014601-209014612
21	CEBPB	chr2:209014529-209014663	Hela-S3	cervix:	n/a	chr2:209014599-209014612 chr2:209014599-209014610 chr2:209014601-209014612
22	CTCF	chr2:209011461-209011515	GM20000	blood:	n/a	n/a
23	CTCF	chr2:209013660-209013810	AG04450	lung:	n/a	chr2:209013719-209013728 chr2:209013713-209013731 chr2:209013708-209013729
24	CTCF	chr2:209013600-209013844	HepG2	liver:	n/a	chr2:209013719-209013728 chr2:209013713-209013731 chr2:209013708-209013729
25	CTCF	chr2:209013580-209013730	HAc	cerebellar:	n/a	chr2:209013719-209013728 chr2:209013708-209013729
26	CTCF	chr2:209012627-209012686	HepG2	liver:	n/a	n/a
27	CTCF	chr2:209013600-209013750	SAEC	small airway:	n/a	chr2:209013719-209013728 chr2:209013713-209013731 chr2:209013708-209013729
28	CTCF	chr2:209013700-209013850	HMEC	breast:	n/a	chr2:209013719-209013728 chr2:209013713-209013731 chr2:209013708-209013729
29	CTCF	chr2:209013680-209013830	AoAF	blood vessel:	n/a	chr2:209013719-209013728 chr2:209013713-209013731 chr2:209013708-209013729
30	CTCF	chr2:209013662-209013811	Pancreas_OC	pancreas:	n/a	chr2:209013719-209013728 chr2:209013713-209013731 chr2:209013708-209013729
31	CTCF	chr2:209013680-209013830	HRE	kidney:	n/a	chr2:209013719-209013728 chr2:209013713-209013731 chr2:209013708-209013729
32	CTCF	chr2:209013680-209013830	BE2_C	brain:	n/a	chr2:209013719-209013728 chr2:209013713-209013731 chr2:209013708-209013729
33	CTCF	chr2:209013720-209013870	HCM	heart:	n/a	n/a
34	CTCF	chr2:209013640-209013790	HEK293	kidney:	n/a	chr2:209013719-209013728 chr2:209013713-209013731 chr2:209013708-209013729
35	CTCF	chr2:209032458-209032492	Lung_OC	lung:	n/a	n/a
36	CTCF	chr2:209013660-209013810	HMF	breast:	n/a	chr2:209013719-209013728 chr2:209013713-209013731 chr2:209013708-209013729
37	CTCF	chr2:209012540-209012690	WERI-Rb-1	eye:	n/a	n/a
38	CTCF	chr2:209013696-209013769	HUVEC	blood vessel:	n/a	chr2:209013719-209013728 chr2:209013713-209013731 chr2:209013708-209013729
39	CTCF	chr2:209013600-209013750	AG10803	skin:	n/a	chr2:209013719-209013728 chr2:209013713-209013731 chr2:209013708-209013729
40	CTCF	chr2:208994580-208994730	SK-N-SH_RA	brain:	n/a	n/a
41	CTCF	chr2:209013600-209013750	AG04449	skin:	n/a	chr2:209013719-209013728 chr2:209013713-209013731 chr2:209013708-209013729
42	CTCF	chr2:209013652-209013812	MCF-7	breast:	n/a	chr2:209013719-209013728 chr2:209013713-209013731 chr2:209013708-209013729
43	CTCF	chr2:209013668-209013795	Gliobla	brain:	n/a	chr2:209013719-209013728 chr2:209013713-209013731 chr2:209013708-209013729
44	CTCF	chr2:209013632-209013829	SK-N-SH_RA	brain:	n/a	chr2:209013719-209013728 chr2:209013713-209013731 chr2:209013708-209013729
45	CTCF	chr2:209013640-209013790	NB4	blood:	n/a	chr2:209013719-209013728 chr2:209013713-209013731 chr2:209013708-209013729
46	CTCF	chr2:209013600-209013750	NHDF-neo	bronchial:	n/a	chr2:209013719-209013728 chr2:209013713-209013731 chr2:209013708-209013729
47	CTCF	chr2:209013620-209013770	HVMF	connective:	n/a	chr2:209013719-209013728 chr2:209013713-209013731 chr2:209013708-209013729
48	CTCF	chr2:209013600-209013750	HPAF	blood vessel:	n/a	chr2:209013719-209013728 chr2:209013713-209013731 chr2:209013708-209013729
49	CTCF	chr2:209013640-209013790	A549	lung:	n/a	chr2:209013719-209013728 chr2:209013713-209013731 chr2:209013708-209013729
50	CTCF	chr2:209013640-209013790	HCPEpiC	choroid plexus:	n/a	chr2:209013719-209013728 chr2:209013713-209013731 chr2:209013708-209013729

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:208994632-208994682	ovcar-3	ovarian:	n/a
2	chr2:208994373-208994423	U87	brain:	n/a
3	chr2:208994632-208994682	ovcar-3	ovarian:	n/a
4	chr2:208994373-208994423	U87	brain:	n/a
5	chr2:209011053-209011103	HRPEpiC	eye:	n/a
6	chr2:209029782-209029832	AG09309	skin:	n/a
7	chr2:209012295-209012345	AG10803	skin:	n/a
8	chr2:209010095-209010145	NH-A	brain:	n/a
9	chr2:209010996-209011046	HCM	heart:	n/a
10	chr2:209029690-209029740	SK-N-MC	brain:	n/a
11	chr2:209012188-209012238	NH-A	brain:	n/a
12	chr2:209010986-209011036	HIPEpiC	eye:	n/a
13	chr2:209011053-209011103	HUVEC	blood vessel:	n/a
14	chr2:209004434-209004484	SK-N-MC	brain:	n/a
15	chr2:209010890-209010940	H1-hESC	embryonic stem cell:	embryo
16	chr2:208994529-208994579	SK-N-MC	brain:	n/a
17	chr2:209025539-209025589	K562	blood:	n/a
18	chr2:209004434-209004484	HPAEpiC	pulmonary alveolar:	n/a
19	chr2:209028059-209028109	GM12892	blood:	n/a
20	chr2:208994373-208994423	AG04450	lung:	fetal
21	chr2:209012188-209012238	Hepatocyte	liver:	n/a
22	chr2:209010996-209011046	ProgFib	skin:	n/a
23	chr2:208994720-208994770	HL-60	blood:	n/a
24	chr2:209004513-209004563	HCM	heart:	n/a
25	chr2:208994720-208994770	MCF10A-Er-Src	breast:	n/a
26	chr2:209004434-209004484	HEEpiC	esophagus:	n/a
27	chr2:209028399-209028449	HAEpiC	amniotic membrane:	n/a
28	chr2:209010629-209010679	HCPEpiC	choroid plexus:	n/a
29	chr2:208994373-208994423	SAEC	small airway:	n/a
30	chr2:209010896-209010946	Hela-S3	cervix:	n/a
31	chr2:209029782-209029832	U87	brain:	n/a
32	chr2:209029782-209029832	SK-N-MC	brain:	n/a
33	chr2:208994529-208994579	BE2_C	brain:	n/a
34	chr2:209029782-209029832	LNCaP	prostate:	n/a
35	chr2:209028478-209028528	BJ	skin:	n/a
36	chr2:209010996-209011046	HIPEpiC	eye:	n/a
37	chr2:209025539-209025589	HCM	heart:	n/a
38	chr2:208995664-208995714	Jurkat	blood:	n/a
39	chr2:208994720-208994770	GM12891	blood:	n/a
40	chr2:209010896-209010946	HCPEpiC	choroid plexus:	n/a
41	chr2:209029594-209029644	AG04450	lung:	fetal
42	chr2:208994373-208994423	PANC-1	pancreas:	n/a
43	chr2:209025539-209025589	HMEC	breast:	n/a
44	chr2:209029690-209029740	ProgFib	skin:	n/a
45	chr2:209028478-209028528	HCM	heart:	n/a
46	chr2:209010996-209011046	NT2-D1	testis:	n/a
47	chr2:209028478-209028528	ECC-1	luminal epithelium:	n/a
48	chr2:208995664-208995714	RPTEC	kidney:	n/a
49	chr2:208995254-208995304	AG10803	skin:	n/a
50	chr2:209028059-209028109	HCM	heart:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:208995156..208996689-chr2:208999145..209001053,2	MCF-7	breast:
2	chr2:208966420..208967322-chr2:209013248..209014210,3	MCF-7	breast:
3	chr2:47433190..47433692-chr2:208994565..208995065,2	MCF-7	breast:
4	chr2:209009911..209012697-chr2:209012960..209014950,2	K562	blood:
5	chr17:19991747..19994521-chr2:209032147..209035018,4	K562	blood:
6	chr17:19995540..19998202-chr2:209032220..209035134,2	MCF-7	breast:
7	chr2:209028147..209030842-chr2:209033531..209035644,2	MCF-7	breast:
8	chr2:209033532..209035428-chr2:209036949..209038570,2	MCF-7	breast:
9	chr2:208966612..208967170-chr2:209013283..209013824,2	MCF-7	breast:
10	chr2:208995156..208996689-chr2:208999145..209001053,2	MCF-7	breast:
11	chr17:19991773..19994998-chr2:209032034..209035004,3	K562	blood:
12	chr2:208989109..208991585-chr2:208994453..208996077,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PIKFYVE-4	chr2:209001780-209001903	NONHSAT076630
2	lnc-PIKFYVE-4	chr2:209021271-209021486	NONHSAT076632
3	lnc-PIKFYVE-4	chr2:209001780-209001903	NONHSAT076632

Variant related genes	Relation type
CRYGA	TF binding region
CRYGC	TF binding region
ENSG00000224529	TF binding region
CRYGB	TF binding region
CRYGA	CpG island
CRYGC	CpG island
ENSG00000224529	CpG island
CRYGB	CpG island
ENSG00000118231	chromatin interactions
ENSG00000168582	chromatin interactions
ENSG00000182187	chromatin interactions

Extended variants
information (count: 1578 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:1578 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2242072	chr2:208994399-208994400	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs104893618	chr2:208994404-208994405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs201013946	chr2:208994405-208994406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs199901300	chr2:208994417-208994418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs367944766	chr2:208994421-208994422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs151203716	chr2:208994428-208994429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs554919363	chr2:208994429-208994430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs371818034	chr2:208994451-208994452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs376580720	chr2:208994455-208994456	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs116267810	chr2:208994456-208994457	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs111957507	chr2:208994467-208994468	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs377350272	chr2:208994500-208994501	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs372345904	chr2:208994509-208994510	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs371323586	chr2:208994518-208994519	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs202067399	chr2:208994529-208994530	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs375648397	chr2:208994537-208994538	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs368158983	chr2:208994538-208994539	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs370678093	chr2:208994546-208994547	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs375116200	chr2:208994547-208994548	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs367762863	chr2:208994549-208994550	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs565155428	chr2:208994601-208994602	Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs530798291	chr2:208994650-208994651	Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs2242071	chr2:208994697-208994698	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs560901710	chr2:208994721-208994722	Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs529756897	chr2:208994722-208994723	Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs546673998	chr2:208994739-208994740	Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs566768213	chr2:208994748-208994749	Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs538830369	chr2:208994818-208994819	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs13392731	chr2:208994849-208994850	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs570288627	chr2:208994905-208994906	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs7578859	chr2:208994927-208994928	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs150341436	chr2:208994956-208994957	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs138091871	chr2:208995009-208995010	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs141063477	chr2:208995018-208995019	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs554223534	chr2:208995022-208995023	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs2601488	chr2:208995098-208995099	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
37	rs2854719	chr2:208995109-208995110	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs188721126	chr2:208995137-208995138	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs191302392	chr2:208995196-208995197	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs369647249	chr2:208995228-208995229	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs368793298	chr2:208995229-208995230	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs544450098	chr2:208995237-208995238	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs560771783	chr2:208995267-208995268	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs529686180	chr2:208995274-208995275	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs183882390	chr2:208995319-208995320	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs373559716	chr2:208995327-208995328	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs539985734	chr2:208995329-208995330	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs559792621	chr2:208995351-208995352	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs2854718	chr2:208995382-208995383	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs534804254	chr2:208995400-208995401	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

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

Chromatin state (count:225 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:208989400-208999800	Weak transcription	Pancreas	Pancrea
2	chr2:208990400-208994400	Weak transcription	HepG2	liver
3	chr2:208990400-208995000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr2:208992800-208994800	Weak transcription	Stomach Mucosa	stomach
5	chr2:208993400-209002200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:208994000-208998400	Enhancers	Fetal Intestine Large	intestine
7	chr2:208994200-208994600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:208994200-208994600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:208994200-208995200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:208994200-208995400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:208994200-208995400	Enhancers	Placenta Amnion	Placenta Amnion
12	chr2:208994200-208996200	Enhancers	Duodenum Mucosa	Duodenum
13	chr2:208994200-208997000	Enhancers	HMEC	breast
14	chr2:208994200-208998400	Enhancers	Fetal Intestine Small	intestine
15	chr2:208994400-208994600	Enhancers	HepG2	liver
16	chr2:208994400-208995200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:208994400-208995400	Enhancers	Placenta	Placenta
18	chr2:208994400-208995800	Enhancers	Rectal Mucosa Donor 29	rectum
19	chr2:208994600-208995200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr2:208994600-208995200	Enhancers	NH-A	brain
21	chr2:208994600-208995400	Enhancers	NHEK	skin
22	chr2:208994600-208995600	Flanking Active TSS	HepG2	liver
23	chr2:208994600-208995800	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr2:208994600-208996000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr2:208994600-208996200	Enhancers	Hela-S3	cervix
26	chr2:208994600-208999600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr2:208994600-209002200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr2:208994800-208996000	Enhancers	Stomach Mucosa	stomach
29	chr2:208995000-208995400	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr2:208995000-208997000	Enhancers	Ovary	ovary
31	chr2:208995200-208996800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr2:208995200-208996800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr2:208995400-208995600	Enhancers	Small Intestine	intestine
34	chr2:208995400-208996400	Weak transcription	NHEK	skin
35	chr2:208995400-208996800	Weak transcription	Placenta	Placenta
36	chr2:208995600-208996200	Enhancers	HepG2	liver
37	chr2:208995800-208996000	Enhancers	Fetal Stomach	stomach
38	chr2:208995800-208999800	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr2:208996000-208999600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr2:208996000-208999600	Weak transcription	Stomach Mucosa	stomach
41	chr2:208996200-208996600	Weak transcription	Hela-S3	cervix
42	chr2:208996200-208999200	Weak transcription	Duodenum Mucosa	Duodenum
43	chr2:208996200-208999200	Weak transcription	HepG2	liver
44	chr2:208996400-208996800	Enhancers	NHEK	skin
45	chr2:208996600-208997000	Enhancers	Hela-S3	cervix
46	chr2:208996800-208997000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr2:208996800-208997000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr2:208996800-208997000	Enhancers	Placenta	Placenta
49	chr2:208996800-208999800	Weak transcription	NHEK	skin
50	chr2:208997000-208999600	Weak transcription	Ovary	ovary

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