Variant report

Variant	nsv459219
Chromosome Location	chr2:126260742-126503735
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	ATF2	chr2:126400678-126401617	GM12878	blood:	n/a	n/a
2	ATF2	chr2:126316690-126317178	GM12878	blood:	n/a	n/a
3	BACH1	chr2:126458688-126458954	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr2:126353854-126354004	K562	blood:	n/a	n/a
5	BACH1	chr2:126458745-126458939	K562	blood:	n/a	n/a
6	BATF	chr2:126416133-126416550	GM12878	blood:	n/a	chr2:126416326-126416337
7	BATF	chr2:126401292-126401608	GM12878	blood:	n/a	n/a
8	BATF	chr2:126503224-126503450	GM12878	blood:	n/a	n/a
9	BATF	chr2:126401281-126401587	GM12878	blood:	n/a	n/a
10	BATF	chr2:126316741-126317078	GM12878	blood:	n/a	n/a
11	BATF	chr2:126492832-126493048	GM12878	blood:	n/a	n/a
12	BATF	chr2:126316692-126317146	GM12878	blood:	n/a	n/a
13	BCLAF1	chr2:126401122-126401620	GM12878	blood:	n/a	n/a
14	BRCA1	chr2:126503179-126503329	HepG2	liver:	n/a	n/a
15	CEBPB	chr2:126363803-126364096	HepG2	liver:	n/a	chr2:126363943-126363952 chr2:126363943-126363954 chr2:126363941-126363954 chr2:126363943-126363952 chr2:126363941-126363952 chr2:126363943-126363952 chr2:126363941-126363954 chr2:126363941-126363954 chr2:126363943-126363952
16	CEBPB	chr2:126361187-126361368	HepG2	liver:	n/a	chr2:126361318-126361329
17	CEBPB	chr2:126459773-126460015	A549	lung:	n/a	chr2:126459891-126459902
18	CEBPB	chr2:126425512-126425665	HepG2	liver:	n/a	chr2:126425629-126425640
19	CEBPB	chr2:126292740-126292991	H1-hESC	embryonic stem cell:	n/a	chr2:126292858-126292869 chr2:126292856-126292869 chr2:126292856-126292869 chr2:126292858-126292867 chr2:126292856-126292869 chr2:126292856-126292867 chr2:126292858-126292867 chr2:126292858-126292867 chr2:126292858-126292867
20	CEBPB	chr2:126409481-126409674	HepG2	liver:	n/a	n/a
21	CEBPB	chr2:126389700-126390009	HepG2	liver:	n/a	chr2:126389856-126389867 chr2:126389854-126389865
22	CEBPB	chr2:126353788-126353887	HepG2	liver:	n/a	n/a
23	CEBPB	chr2:126292675-126293047	HepG2	liver:	n/a	chr2:126292858-126292869 chr2:126292856-126292869 chr2:126292856-126292869 chr2:126292858-126292867 chr2:126292856-126292869 chr2:126292856-126292867 chr2:126292858-126292867 chr2:126292858-126292867 chr2:126292858-126292867
24	CEBPB	chr2:126430195-126430582	HepG2	liver:	n/a	chr2:126430336-126430347
25	CEBPB	chr2:126322537-126322835	HepG2	liver:	n/a	chr2:126322705-126322716 chr2:126322703-126322716 chr2:126322705-126322714 chr2:126322703-126322714 chr2:126322705-126322714 chr2:126322703-126322716 chr2:126322705-126322714 chr2:126322705-126322716 chr2:126322705-126322714
26	CEBPB	chr2:126411881-126412118	MCF-7	breast:	n/a	chr2:126412044-126412055 chr2:126412046-126412055 chr2:126412046-126412057 chr2:126412044-126412057
27	CEBPB	chr2:126411903-126412224	Hela-S3	cervix:	n/a	chr2:126412044-126412055 chr2:126412046-126412055 chr2:126412046-126412057 chr2:126412044-126412057
28	CEBPB	chr2:126462546-126463195	HepG2	liver:	n/a	chr2:126462632-126462645 chr2:126463016-126463027
29	CEBPB	chr2:126430277-126430417	H1-hESC	embryonic stem cell:	n/a	chr2:126430336-126430347
30	CEBPB	chr2:126363876-126363978	K562	blood:	n/a	chr2:126363943-126363952 chr2:126363943-126363954 chr2:126363941-126363954 chr2:126363943-126363952 chr2:126363941-126363952 chr2:126363943-126363952 chr2:126363941-126363954 chr2:126363941-126363954 chr2:126363943-126363952
31	CEBPB	chr2:126471303-126471454	K562	blood:	n/a	chr2:126471330-126471343 chr2:126471331-126471342
32	CEBPB	chr2:126267211-126267425	A549	lung:	n/a	chr2:126267302-126267313
33	CEBPB	chr2:126459757-126460046	Hela-S3	cervix:	n/a	chr2:126459891-126459902
34	CEBPB	chr2:126298573-126298817	H1-hESC	embryonic stem cell:	n/a	chr2:126298648-126298661 chr2:126298648-126298659
35	CEBPB	chr2:126292693-126293047	A549	lung:	n/a	chr2:126292858-126292869 chr2:126292856-126292869 chr2:126292856-126292869 chr2:126292858-126292867 chr2:126292856-126292869 chr2:126292856-126292867 chr2:126292858-126292867 chr2:126292858-126292867 chr2:126292858-126292867
36	CEBPB	chr2:126430155-126430949	Hela-S3	cervix:	n/a	chr2:126430336-126430347
37	CEBPB	chr2:126411893-126412246	H1-hESC	embryonic stem cell:	n/a	chr2:126412044-126412055 chr2:126412046-126412055 chr2:126412046-126412057 chr2:126412044-126412057
38	CEBPB	chr2:126314948-126315203	HepG2	liver:	n/a	chr2:126315080-126315091 chr2:126315048-126315059 chr2:126315080-126315089 chr2:126315078-126315089
39	CEBPB	chr2:126298487-126298826	IMR90	lung:	n/a	chr2:126298648-126298661 chr2:126298648-126298659
40	CEBPB	chr2:126411866-126412224	HepG2	liver:	n/a	chr2:126412044-126412055 chr2:126412046-126412055 chr2:126412046-126412057 chr2:126412044-126412057
41	CEBPB	chr2:126292682-126293044	IMR90	lung:	n/a	chr2:126292858-126292869 chr2:126292856-126292869 chr2:126292856-126292869 chr2:126292858-126292867 chr2:126292856-126292869 chr2:126292856-126292867 chr2:126292858-126292867 chr2:126292858-126292867 chr2:126292858-126292867
42	CEBPB	chr2:126283684-126284040	HepG2	liver:	n/a	n/a
43	CEBPB	chr2:126462938-126463121	H1-hESC	embryonic stem cell:	n/a	chr2:126463016-126463027
44	CEBPB	chr2:126457168-126457434	A549	lung:	n/a	chr2:126457350-126457363 chr2:126457351-126457362
45	CEBPB	chr2:126471197-126471524	HepG2	liver:	n/a	chr2:126471330-126471343 chr2:126471331-126471342
46	CEBPB	chr2:126267166-126267468	HepG2	liver:	n/a	chr2:126267302-126267313
47	CEBPB	chr2:126471204-126471522	H1-hESC	embryonic stem cell:	n/a	chr2:126471330-126471343 chr2:126471331-126471342
48	CEBPB	chr2:126411924-126412172	IMR90	lung:	n/a	chr2:126412044-126412055 chr2:126412046-126412055 chr2:126412046-126412057 chr2:126412044-126412057
49	CEBPB	chr2:126456504-126456579	HepG2	liver:	n/a	n/a
50	CEBPB	chr2:126462587-126463186	IMR90	lung:	n/a	chr2:126462632-126462645 chr2:126463016-126463027

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:126350052-126350102	K562	blood:	n/a
2	chr2:126350052-126350102	AG10803	skin:	n/a
3	chr2:126350052-126350102	Caco-2	colon:	n/a
4	chr2:126350052-126350102	HPAEpiC	pulmonary alveolar:	n/a
5	chr2:126350052-126350102	HEK293	kidney:	embryo
6	chr2:126350052-126350102	T-47D	breast:	n/a
7	chr2:126350052-126350102	NB4	blood:	n/a
8	chr2:126350052-126350102	HRE	kidney:	n/a
9	chr2:126350052-126350102	MCF-7	breast:	n/a
10	chr2:126350052-126350102	HCF	heart:	n/a
11	chr2:126350052-126350102	ProgFib	skin:	n/a
12	chr2:126350052-126350102	GM12878	blood:	n/a
13	chr2:126350052-126350102	AG09309	skin:	n/a
14	chr2:126350052-126350102	HUVEC	blood vessel:	n/a
15	chr2:126350052-126350102	MCF10A-Er-Src	breast:	n/a
16	chr2:126350052-126350102	PFSK-1	brain:	n/a
17	chr2:126350052-126350102	ovcar-3	ovarian:	n/a
18	chr2:126350052-126350102	Jurkat	blood:	n/a
19	chr2:126350052-126350102	AG04449	skin:	fetal
20	chr2:126350052-126350102	NT2-D1	testis:	n/a
21	chr2:126350052-126350102	ECC-1	luminal epithelium:	n/a
22	chr2:126350052-126350102	HRCEpiC	kidney:	n/a
23	chr2:126350052-126350102	HMEC	breast:	n/a
24	chr2:126350052-126350102	AG04450	lung:	fetal
25	chr2:126350052-126350102	AoSMC	blood vessel:	n/a
26	chr2:126350052-126350102	BJ	skin:	n/a
27	chr2:126350052-126350102	HCPEpiC	choroid plexus:	n/a
28	chr2:126350052-126350102	LNCaP	prostate:	n/a
29	chr2:126350052-126350102	GM19239	blood:	n/a
30	chr2:126350052-126350102	HRPEpiC	eye:	n/a
31	chr2:126350052-126350102	IMR90	lung:	fetal
32	chr2:126350052-126350102	HNPCEpiC	eye:	n/a
33	chr2:126350052-126350102	H1-hESC	embryonic stem cell:	embryo
34	chr2:126350052-126350102	Hepatocyte	liver:	n/a
35	chr2:126350052-126350102	HepG2	liver:	n/a
36	chr2:126350052-126350102	HCT-116	colon:	n/a
37	chr2:126350052-126350102	HIPEpiC	eye:	n/a
38	chr2:126350052-126350102	HAEpiC	amniotic membrane:	n/a
39	chr2:126350052-126350102	NH-A	brain:	n/a
40	chr2:126350052-126350102	U87	brain:	n/a
41	chr2:126350052-126350102	SK-N-MC	brain:	n/a
42	chr2:126350052-126350102	SAEC	small airway:	n/a
43	chr2:126350052-126350102	PANC-1	pancreas:	n/a
44	chr2:126350052-126350102	BE2_C	brain:	n/a
45	chr2:126350052-126350102	Hela-S3	cervix:	n/a
46	chr2:126350052-126350102	NHBE	bronchial:	n/a
47	chr2:126350052-126350102	SK-N-SH_RA	brain:	n/a
48	chr2:126350052-126350102	GM12892	blood:	n/a
49	chr2:126350052-126350102	AG09319	gingival:	n/a
50	chr2:126350052-126350102	HEEpiC	esophagus:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:126324067..126325943-chr2:126329563..126331533,2	K562	blood:
2	chr2:126475681..126477438-chr2:126478103..126480608,2	K562	blood:
3	chr2:126398778..126400895-chr2:126402290..126404652,2	K562	blood:
4	chr2:126423393..126427272-chr2:126428665..126431892,3	K562	blood:
5	chr2:126413571..126415580-chr2:126417629..126419546,2	K562	blood:
6	chr2:126398778..126400895-chr2:126402290..126404652,2	K562	blood:
7	chr2:126441721..126443799-chr2:126451980..126453632,2	K562	blood:
8	chr2:126441721..126443799-chr2:126451980..126453632,2	K562	blood:
9	chr2:126441149..126442866-chr2:126450432..126451944,2	K562	blood:
10	chr2:126502767..126504184-chr2:127534751..127535559,5	MCF-7	breast:
11	chr2:126412945..126415071-chr2:126417219..126419546,2	K562	blood:
12	chr2:126324067..126325943-chr2:126329563..126331533,2	K562	blood:
13	chr2:126047722..126049606-chr2:126299311..126300955,2	K562	blood:
14	chr2:126441149..126442866-chr2:126450432..126451944,2	K562	blood:
15	chr2:126503076..126503791-chr2:127534683..127535324,4	MCF-7	breast:
16	chr2:126503200..126503743-chr2:127729269..127730019,3	MCF-7	breast:
17	chr2:126502797..126503723-chr2:127002290..127003108,2	MCF-7	breast:
18	chr2:126412945..126415071-chr2:126417219..126419546,2	K562	blood:
19	chr2:126423393..126427272-chr2:126428665..126431892,3	K562	blood:
20	chr2:126480919..126482425-chr2:126537842..126540403,2	K562	blood:
21	chr2:126413571..126415580-chr2:126417629..126419546,2	K562	blood:
22	chr2:126475681..126477438-chr2:126478103..126480608,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CNTNAP5-2	chr2:126457983-126458113	FPKM1_group_17139_transcript_1
2	lnc-BIN1-3	chr2:126464387-126464754	XLOC_002307
3	lnc-CNTNAP5-3	chr2:126468545-126468947	NONHSAT074121
4	lnc-CNTNAP5-2	chr2:126456152-126456276	FPKM1_group_17139_transcript_1
5	lnc-BIN1-3	chr2:126483361-126483468	NONHSAT074119
6	lnc-CNTNAP5-2	chr2:126474462-126474592	NONHSAT074117
7	lnc-CNTNAP5-2	chr2:126456152-126456276	NONHSAT074117
8	lnc-BIN1-3	chr2:126483362-126483468	XLOC_002307
9	lnc-BIN1-3	chr2:126464386-126464754	NONHSAT074119
10	lnc-CNTNAP5-3	chr2:126468546-126468947	XLOC_001657

Variant related genes	Relation type
ENSG00000235491	TF binding region
ENSG00000235491	CpG island
KCNC4	miRNA target sites
KCNH8	miRNA target sites

Extended variants
information (count: 3810 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:3810 , 50 per page) page: 1 2 3 4 5 6 7 ... 77

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529308552	chr2:126265089-126265090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs190173304	chr2:126265110-126265111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs182442611	chr2:126265111-126265112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs574496403	chr2:126265122-126265123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs147409029	chr2:126265151-126265152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs78161621	chr2:126265185-126265186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs545447674	chr2:126265212-126265213	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs77879403	chr2:126265218-126265219	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs562851961	chr2:126265228-126265229	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs145285257	chr2:126265281-126265282	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs548421328	chr2:126265296-126265297	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs187396339	chr2:126265324-126265325	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs192879704	chr2:126265333-126265334	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs7557541	chr2:126265354-126265355	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs34617594	chr2:126265396-126265397	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs111628711	chr2:126265426-126265427	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs1597831	chr2:126265429-126265430	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs539854754	chr2:126265452-126265453	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs558852583	chr2:126265485-126265486	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs569178646	chr2:126265491-126265492	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs538038856	chr2:126265495-126265496	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs185861212	chr2:126265513-126265514	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs574458683	chr2:126265538-126265539	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs533679465	chr2:126265557-126265558	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs553855770	chr2:126265563-126265564	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs576730823	chr2:126265583-126265584	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs188681212	chr2:126265613-126265614	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs562837421	chr2:126265636-126265637	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs74548345	chr2:126265649-126265650	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs542002431	chr2:126265659-126265660	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs558511584	chr2:126267814-126267815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs541452097	chr2:126267906-126267907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs77803060	chr2:126267907-126267908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs578191816	chr2:126267911-126267912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs544042000	chr2:126267914-126267915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs189543533	chr2:126267982-126267983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs554346914	chr2:126267983-126267984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs557444910	chr2:126268013-126268014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs140678243	chr2:126268028-126268029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs542638687	chr2:126268034-126268035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs540338199	chr2:126268049-126268050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs7565829	chr2:126268100-126268101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs182669149	chr2:126268127-126268128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs528498251	chr2:126268135-126268136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs75132538	chr2:126268136-126268137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs7565838	chr2:126268139-126268140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs559977038	chr2:126268157-126268158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs187956670	chr2:126268163-126268164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs564045578	chr2:126268164-126268165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs7565940	chr2:126268174-126268175	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	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
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Mental retardation	17621639	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Medulloblastoma	16968546	CNVD
Neurocytoma	17123091	CNVD
Developmental delay	21147756	CNVD
Bladder cancer	21909424	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:193 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:126265000-126265200	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr2:126265200-126265800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
3	chr2:126267800-126268200	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr2:126267800-126268200	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr2:126267800-126268200	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr2:126268000-126268600	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr2:126268200-126270400	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr2:126268200-126270400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr2:126270400-126270800	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr2:126270400-126271000	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr2:126270400-126271200	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr2:126274000-126274200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
13	chr2:126275000-126275200	Active TSS	Primary T killer memory cells from peripheral blood	blood
14	chr2:126283800-126284200	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr2:126284000-126284200	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr2:126284000-126284200	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr2:126284200-126285200	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr2:126284200-126285200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr2:126284400-126285400	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr2:126285200-126286600	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr2:126285200-126286800	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr2:126285200-126287200	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr2:126285400-126286600	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr2:126285400-126286600	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr2:126285400-126286800	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr2:126285800-126286800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr2:126301600-126302600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:126310800-126311000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr2:126311800-126312200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr2:126314600-126315000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr2:126316600-126317000	Enhancers	GM12878-XiMat	blood
32	chr2:126318200-126319200	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr2:126318400-126318600	Enhancers	Sigmoid Colon	Sigmoid Colon
34	chr2:126318400-126319200	Active TSS	Rectal Mucosa Donor 29	rectum
35	chr2:126318600-126323600	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr2:126319200-126319400	Enhancers	Rectal Mucosa Donor 29	rectum
37	chr2:126319200-126319400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
38	chr2:126319400-126320600	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr2:126319400-126322000	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr2:126320600-126321600	Enhancers	Rectal Mucosa Donor 29	rectum
41	chr2:126322000-126323400	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr2:126322200-126323200	Enhancers	Adipose Nuclei	Adipose
43	chr2:126323200-126324000	Weak transcription	Adipose Nuclei	Adipose
44	chr2:126323600-126323800	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr2:126323600-126323800	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr2:126324000-126324200	Enhancers	Adipose Nuclei	Adipose
47	chr2:126324000-126324400	Enhancers	Fetal Kidney	kidney
48	chr2:126330000-126330600	Enhancers	Liver	Liver
49	chr2:126332200-126332600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr2:126338600-126339600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links