Variant report

Variant	nsv875594
Chromosome Location	chr2:188482933-188673462
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:741)
CpG islands
(count:122)
Chromatin interactive
region (count:35)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:741 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:188513230-188513415	K562	blood:	n/a	n/a
2	ATF1	chr2:188551050-188551187	K562	blood:	n/a	n/a
3	ATF1	chr2:188558759-188558891	K562	blood:	n/a	n/a
4	ATF1	chr2:188633855-188634067	K562	blood:	n/a	n/a
5	BACH1	chr2:188647107-188647253	K562	blood:	n/a	n/a
6	BHLHE40	chr2:188521903-188522037	K562	blood:	n/a	n/a
7	BHLHE40	chr2:188639528-188639589	GM12878	blood:	n/a	n/a
8	CBX3	chr2:188505670-188506206	K562	blood:	n/a	n/a
9	CCNT2	chr2:188671617-188671704	K562	blood:	n/a	n/a
10	CCNT2	chr2:188505985-188506183	K562	blood:	n/a	n/a
11	CEBPB	chr2:188648982-188649119	K562	blood:	n/a	chr2:188649052-188649063
12	CEBPB	chr2:188608570-188608763	IMR90	lung:	n/a	chr2:188608676-188608687
13	CEBPB	chr2:188656420-188656432	HepG2	liver:	n/a	n/a
14	CEBPB	chr2:188608563-188608828	HepG2	liver:	n/a	chr2:188608676-188608687
15	CEBPB	chr2:188659239-188659491	A549	lung:	n/a	n/a
16	CEBPB	chr2:188581048-188581245	A549	lung:	n/a	n/a
17	CEBPB	chr2:188626594-188626733	A549	lung:	n/a	n/a
18	CEBPB	chr2:188657288-188657534	HepG2	liver:	n/a	chr2:188657412-188657423
19	CEBPB	chr2:188608641-188608753	K562	blood:	n/a	chr2:188608676-188608687
20	CEBPB	chr2:188659268-188659401	K562	blood:	n/a	n/a
21	CEBPB	chr2:188553978-188554022	A549	lung:	n/a	n/a
22	CEBPB	chr2:188648988-188649117	Hela-S3	cervix:	n/a	chr2:188649052-188649063
23	CEBPB	chr2:188649012-188649117	H1-hESC	embryonic stem cell:	n/a	chr2:188649052-188649063
24	CEBPB	chr2:188648876-188649229	IMR90	lung:	n/a	chr2:188649052-188649063
25	CEBPB	chr2:188648886-188649231	A549	lung:	n/a	chr2:188649052-188649063
26	CEBPB	chr2:188648874-188649234	HepG2	liver:	n/a	chr2:188649052-188649063
27	CEBPB	chr2:188659234-188659471	IMR90	lung:	n/a	n/a
28	CTCF	chr2:188523800-188523950	A549	lung:	n/a	n/a
29	CTCF	chr2:188523810-188523822	GM19238	blood:	n/a	n/a
30	CTCF	chr2:188523760-188523910	AoAF	blood vessel:	n/a	n/a
31	CTCF	chr2:188523760-188523910	HAc	cerebellar:	n/a	n/a
32	CTCF	chr2:188648340-188648490	HBMEC	blood vessel:	n/a	n/a
33	CTCF	chr2:188523727-188523944	MCF-7	breast:	n/a	n/a
34	CTCF	chr2:188648211-188648433	H1-hESC	embryonic stem cell:	n/a	n/a
35	CTCF	chr2:188523986-188524040	MCF-7	breast:	n/a	n/a
36	CTCF	chr2:188648150-188648595	MCF-7	breast:	n/a	n/a
37	CTCF	chr2:188523720-188523870	HCM	heart:	n/a	n/a
38	CTCF	chr2:188617429-188617452	GM12878	blood:	n/a	n/a
39	CTCF	chr2:188648280-188648430	HA-sp	spinal cord:	n/a	n/a
40	CTCF	chr2:188523780-188523930	AG09319	gingival:	n/a	n/a
41	CTCF	chr2:188648260-188648410	AG04449	skin:	n/a	n/a
42	CTCF	chr2:188523720-188523870	WI-38	lung:	n/a	n/a
43	CTCF	chr2:188523760-188523910	HBMEC	blood vessel:	n/a	n/a
44	CTCF	chr2:188523734-188523901	Pancreas_OC	pancreas:	n/a	n/a
45	CTCF	chr2:188523720-188523870	GM12869	blood:	n/a	n/a
46	CTCF	chr2:188648290-188648417	Medullo	brain:	n/a	n/a
47	CTCF	chr2:188523975-188523985	MCF-7	breast:	n/a	n/a
48	CTCF	chr2:188523740-188523890	HEK293	kidney:	n/a	n/a
49	CTCF	chr2:188523787-188523850	GM10248	blood:	n/a	n/a
50	CTCF	chr2:188648200-188648350	HUVEC	blood vessel:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:188583082-188583132	HRCEpiC	kidney:	n/a
2	chr2:188483530-188483580	GM12878	blood:	n/a
3	chr2:188583082-188583132	NH-A	brain:	n/a
4	chr2:188583082-188583132	ProgFib	skin:	n/a
5	chr2:188583082-188583132	HRE	kidney:	n/a
6	chr2:188583082-188583132	SKMC	muscle:	n/a
7	chr2:188583082-188583132	CMK	blood:	n/a
8	chr2:188583082-188583132	HMEC	breast:	n/a
9	chr2:188583082-188583132	BJ	skin:	n/a
10	chr2:188483530-188483580	NH-A	brain:	n/a
11	chr2:188583082-188583132	SAEC	small airway:	n/a
12	chr2:188483530-188483580	Hela-S3	cervix:	n/a
13	chr2:188483530-188483580	HEK293	kidney:	embryo
14	chr2:188583082-188583132	NT2-D1	testis:	n/a
15	chr2:188583082-188583132	GM12878	blood:	n/a
16	chr2:188483530-188483580	RPTEC	kidney:	n/a
17	chr2:188583082-188583132	HCM	heart:	n/a
18	chr2:188483530-188483580	SKMC	muscle:	n/a
19	chr2:188483530-188483580	AG09309	skin:	n/a
20	chr2:188483530-188483580	CMK	blood:	n/a
21	chr2:188583082-188583132	SK-N-MC	brain:	n/a
22	chr2:188583082-188583132	ovcar-3	ovarian:	n/a
23	chr2:188483530-188483580	HL-60	blood:	n/a
24	chr2:188583082-188583132	SK-N-SH_RA	brain:	n/a
25	chr2:188483530-188483580	HAEpiC	amniotic membrane:	n/a
26	chr2:188483530-188483580	NHDF-neo	bronchial:	n/a
27	chr2:188583082-188583132	NHDF-neo	bronchial:	n/a
28	chr2:188583082-188583132	AG09319	gingival:	n/a
29	chr2:188483530-188483580	ProgFib	skin:	n/a
30	chr2:188483530-188483580	IMR90	lung:	fetal
31	chr2:188483530-188483580	SK-N-SH_RA	brain:	n/a
32	chr2:188583082-188583132	GM12892	blood:	n/a
33	chr2:188483530-188483580	HMEC	breast:	n/a
34	chr2:188583082-188583132	A549	lung:	n/a
35	chr2:188583082-188583132	Caco-2	colon:	n/a
36	chr2:188483530-188483580	HRE	kidney:	n/a
37	chr2:188483530-188483580	BE2_C	brain:	n/a
38	chr2:188583082-188583132	HUVEC	blood vessel:	n/a
39	chr2:188583082-188583132	IMR90	lung:	fetal
40	chr2:188583082-188583132	HEEpiC	esophagus:	n/a
41	chr2:188483530-188483580	T-47D	breast:	n/a
42	chr2:188583082-188583132	U87	brain:	n/a
43	chr2:188583082-188583132	HPAEpiC	pulmonary alveolar:	n/a
44	chr2:188583082-188583132	AoSMC	blood vessel:	n/a
45	chr2:188583082-188583132	Hepatocyte	liver:	n/a
46	chr2:188583082-188583132	K562	blood:	n/a
47	chr2:188483530-188483580	MCF10A-Er-Src	breast:	n/a
48	chr2:188583082-188583132	HNPCEpiC	eye:	n/a
49	chr2:188583082-188583132	HAEpiC	amniotic membrane:	n/a
50	chr2:188483530-188483580	Hepatocyte	liver:	n/a

(count:35 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:188668614..188671113-chr2:188671408..188674313,2	K562	blood:
2	chr2:188478443..188481336-chr2:188482033..188484662,2	K562	blood:
3	chr2:188506973..188509886-chr2:188511524..188513522,2	MCF-7	breast:
4	chr2:188634121..188636479-chr2:188637228..188640007,2	K562	blood:
5	chr2:188478254..188481614-chr2:188483978..188486883,3	K562	blood:
6	chr2:188591288..188593045-chr2:188603697..188606410,2	K562	blood:
7	chr2:188460269..188463083-chr2:188643990..188646491,2	K562	blood:
8	chr2:188549053..188550995-chr2:188552944..188555111,2	K562	blood:
9	chr2:188480199..188482146-chr2:188486058..188487606,2	K562	blood:
10	chr2:188554226..188556067-chr2:188557220..188559283,2	K562	blood:
11	chr2:188302851..188305687-chr2:188602438..188604231,2	K562	blood:
12	chr2:188549053..188550995-chr2:188552944..188555111,2	K562	blood:
13	chr2:188506973..188509886-chr2:188511524..188513522,2	MCF-7	breast:
14	chr2:188523465..188524329-chr2:188707490..188708173,2	MCF-7	breast:
15	chr2:188544173..188545945-chr2:188547538..188549082,2	K562	blood:
16	chr2:188601026..188603906-chr2:188607326..188609061,2	K562	blood:
17	chr2:188581473..188583744-chr2:188592833..188595412,2	MCF-7	breast:
18	chr2:188554226..188556067-chr2:188557220..188559283,2	K562	blood:
19	chr2:188506449..188508323-chr2:188511407..188513734,2	K562	blood:
20	chr2:188604449..188606812-chr2:188608184..188609837,2	K562	blood:
21	chr2:188630653..188632661-chr2:188633986..188636856,2	K562	blood:
22	chr2:188604449..188606812-chr2:188608184..188609837,2	K562	blood:
23	chr2:188544173..188545945-chr2:188547538..188549082,2	K562	blood:
24	chr2:188506449..188508323-chr2:188511407..188513734,2	K562	blood:
25	chr2:188523368..188524314-chr2:188579524..188580267,2	K562	blood:
26	chr2:188634121..188636479-chr2:188637228..188640007,2	K562	blood:
27	chr2:188560452..188562867-chr2:188563141..188566315,4	K562	blood:
28	chr2:188630653..188632661-chr2:188633986..188636856,2	K562	blood:
29	chr2:188581473..188583744-chr2:188592833..188595412,2	MCF-7	breast:
30	chr2:188523368..188524314-chr2:188579524..188580267,2	K562	blood:
31	chr2:188591288..188593045-chr2:188603697..188606410,2	K562	blood:
32	chr2:188668614..188671113-chr2:188671408..188674313,2	K562	blood:
33	chr2:188601766..188603906-chr2:188606320..188608826,2	K562	blood:
34	chr2:188480221..188482587-chr2:188496790..188498507,2	K562	blood:
35	chr2:188560452..188562867-chr2:188563141..188566315,4	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DIRC1-2	chr2:188577543-188577606	ENSG00000231689

No data

Variant related genes	Relation type
ENSG00000252004	TF binding region
ENSG00000252004	CpG island
ENSG00000252004	chromatin interactions

Extended variants
information (count: 5353 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:5353 , 50 per page) page: 1 2 3 4 5 6 7 ... 108

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7561970	chr2:188482933-188482934	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs527266807	chr2:188482942-188482943	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs535005190	chr2:188482955-188482956	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs73980914	chr2:188483001-188483002	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs7588669	chr2:188483024-188483025	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs368698542	chr2:188483025-188483026	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs11893893	chr2:188483097-188483098	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs72343240	chr2:188483136-188483137	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs370076228	chr2:188483140-188483141	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs575612712	chr2:188483151-188483152	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs550002006	chr2:188483180-188483181	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs546210469	chr2:188483223-188483224	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs148043736	chr2:188483237-188483238	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs77370363	chr2:188483271-188483272	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs150651264	chr2:188483272-188483273	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs182242525	chr2:188483276-188483277	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs28468459	chr2:188483310-188483311	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs13406845	chr2:188483319-188483320	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs140825093	chr2:188483332-188483333	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs563431317	chr2:188483354-188483355	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs7562407	chr2:188483360-188483361	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs7562491	chr2:188483372-188483373	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs185583110	chr2:188483382-188483383	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs570345370	chr2:188483479-188483480	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs534557041	chr2:188483480-188483481	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs547319390	chr2:188483495-188483496	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs371571290	chr2:188483496-188483497	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs568741837	chr2:188483521-188483522	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs536071994	chr2:188483530-188483531	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs557570912	chr2:188483546-188483547	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs555118742	chr2:188483627-188483628	Flanking Active TSS Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs377510582	chr2:188483631-188483632	Flanking Active TSS Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs536163203	chr2:188483716-188483717	Flanking Active TSS Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs575719430	chr2:188483729-188483730	Flanking Active TSS Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs539435325	chr2:188483891-188483892	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs6743243	chr2:188483928-188483929	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs144568910	chr2:188484024-188484025	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540207371	chr2:188484025-188484026	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576455894	chr2:188484063-188484064	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190045398	chr2:188484071-188484072	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574378244	chr2:188484072-188484073	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541653758	chr2:188484132-188484133	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs6743487	chr2:188484155-188484156	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs368089696	chr2:188484194-188484195	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530673724	chr2:188484205-188484206	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs373778091	chr2:188484241-188484242	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs73980915	chr2:188484262-188484263	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs75965494	chr2:188484279-188484280	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181741657	chr2:188484404-188484405	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546582900	chr2:188484412-188484413	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	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
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	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
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Urothelial carcinoma	21177765	CNVD
Intellectual disability	22102821	CNVD
Tetralogy of Fallot	22912587	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:526 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188479400-188484200	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr2:188479400-188485200	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr2:188479400-188485400	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr2:188479800-188483600	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr2:188480200-188483400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:188480200-188484200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr2:188480400-188483200	Weak transcription	Ovary	ovary
8	chr2:188480400-188484400	Enhancers	Brain Germinal Matrix	brain
9	chr2:188480600-188483800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr2:188481600-188484600	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr2:188481800-188483000	Enhancers	H9 Cell Line	embryonic stem cell
12	chr2:188481800-188483200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:188482000-188483000	Enhancers	H1 Cell Line	embryonic stem cell
14	chr2:188482000-188483000	Enhancers	Brain Cingulate Gyrus	brain
15	chr2:188482000-188483000	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr2:188482000-188483400	Enhancers	Brain Angular Gyrus	brain
17	chr2:188482000-188483400	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr2:188482000-188483400	Enhancers	Fetal Muscle Leg	muscle
19	chr2:188482000-188483800	Enhancers	Brain Hippocampus Middle	brain
20	chr2:188482000-188484000	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr2:188482000-188484200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr2:188482200-188483000	Enhancers	Brain Substantia Nigra	brain
23	chr2:188482200-188484000	Enhancers	HSMM	muscle
24	chr2:188482200-188484800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr2:188482600-188483000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
26	chr2:188482600-188483200	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr2:188482600-188483400	Enhancers	HSMMtube	muscle
28	chr2:188482600-188484000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr2:188482600-188484200	Enhancers	Muscle Satellite Cultured Cells	--
30	chr2:188482800-188483000	Enhancers	Psoas Muscle	Psoas
31	chr2:188482800-188483200	Enhancers	Brain Anterior Caudate	brain
32	chr2:188482800-188483600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:188482800-188483600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr2:188482800-188484000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr2:188483000-188483600	Weak transcription	Brain Cingulate Gyrus	brain
36	chr2:188483000-188483800	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr2:188483000-188483800	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr2:188483000-188483800	Enhancers	Fetal Brain Female	brain
39	chr2:188483000-188485400	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr2:188483200-188483600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr2:188483200-188483600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr2:188483200-188483600	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr2:188483200-188483800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr2:188483200-188483800	Active TSS	Brain Anterior Caudate	brain
45	chr2:188483200-188483800	Active TSS	Ovary	ovary
46	chr2:188483200-188483800	Enhancers	NH-A	brain
47	chr2:188483200-188484000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr2:188483400-188483800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr2:188483600-188483800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr2:188483600-188483800	Enhancers	Psoas Muscle	Psoas

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links