Variant report

Variant	nsv873998
Chromosome Location	chr2:47273732-47313624
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1387)
CpG islands
(count:549)
Chromatin interactive
region (count:70)
LncRNA
region (count:10)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

(count:1387 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:47303965-47304870	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:47305959-47306810	HepG2	liver:	n/a	n/a
3	ARID3A	chr2:47298215-47298790	HepG2	liver:	n/a	n/a
4	ARID3A	chr2:47306136-47306512	K562	blood:	n/a	n/a
5	ATF1	chr2:47306149-47306494	K562	blood:	n/a	n/a
6	ATF2	chr2:47296738-47297202	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr2:47296720-47297206	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr2:47298577-47299102	GM12878	blood:	n/a	n/a
9	ATF3	chr2:47303502-47304945	A549	lung:	n/a	n/a
10	ATF3	chr2:47303648-47304645	A549	lung:	n/a	n/a
11	ATF3	chr2:47303813-47304313	HepG2	liver:	n/a	n/a
12	BCL3	chr2:47302942-47305551	A549	lung:	n/a	chr2:47304045-47304053 chr2:47303457-47303466 chr2:47303427-47303440
13	BCL3	chr2:47304569-47305407	GM12878	blood:	n/a	n/a
14	BCL3	chr2:47303342-47305368	A549	lung:	n/a	chr2:47304045-47304053 chr2:47303457-47303466 chr2:47303427-47303440
15	BCL3	chr2:47305760-47306536	A549	lung:	n/a	n/a
16	BCL3	chr2:47305715-47306601	A549	lung:	n/a	chr2:47306568-47306577
17	BCLAF1	chr2:47298436-47299151	GM12878	blood:	n/a	chr2:47298556-47298569
18	BCLAF1	chr2:47298555-47299068	GM12878	blood:	n/a	chr2:47298556-47298569
19	BHLHE40	chr2:47304587-47304940	K562	blood:	n/a	n/a
20	BHLHE40	chr2:47303866-47304472	A549	lung:	n/a	n/a
21	BHLHE40	chr2:47298640-47299082	GM12878	blood:	n/a	n/a
22	BHLHE40	chr2:47313413-47313627	K562	blood:	n/a	chr2:47313556-47313565 chr2:47313557-47313566 chr2:47313551-47313572 chr2:47313557-47313566 chr2:47313558-47313567
23	BHLHE40	chr2:47284663-47285009	GM12878	blood:	n/a	n/a
24	BHLHE40	chr2:47303634-47304928	HepG2	liver:	n/a	n/a
25	BHLHE40	chr2:47306157-47306474	K562	blood:	n/a	n/a
26	BHLHE40	chr2:47297253-47298976	HepG2	liver:	n/a	chr2:47297465-47297481
27	BRCA1	chr2:47297282-47297384	HepG2	liver:	n/a	n/a
28	BRCA1	chr2:47298657-47298913	HepG2	liver:	n/a	n/a
29	BRCA1	chr2:47300256-47300310	GM12878	blood:	n/a	n/a
30	BRCA1	chr2:47296761-47297130	H1-hESC	embryonic stem cell:	n/a	n/a
31	BRCA1	chr2:47303978-47305024	Hela-S3	cervix:	n/a	n/a
32	BRCA1	chr2:47305860-47306438	HepG2	liver:	n/a	n/a
33	BRCA1	chr2:47303883-47304396	HepG2	liver:	n/a	n/a
34	BRCA1	chr2:47295071-47295078	HepG2	liver:	n/a	n/a
35	BRCA1	chr2:47304869-47304874	HepG2	liver:	n/a	n/a
36	CBX3	chr2:47306074-47306542	K562	blood:	n/a	n/a
37	CCNT2	chr2:47306139-47306498	K562	blood:	n/a	n/a
38	CEBPB	chr2:47303984-47304439	MCF-7	breast:	n/a	n/a
39	CEBPB	chr2:47304519-47305054	ECC-1	luminal epithelium:	n/a	n/a
40	CEBPB	chr2:47303956-47304927	Hela-S3	cervix:	n/a	n/a
41	CEBPB	chr2:47305869-47306507	HepG2	liver:	n/a	chr2:47306149-47306160
42	CEBPB	chr2:47285427-47285659	H1-hESC	embryonic stem cell:	n/a	chr2:47285496-47285505 chr2:47285494-47285505
43	CEBPB	chr2:47285462-47285571	Hela-S3	cervix:	n/a	chr2:47285496-47285505 chr2:47285494-47285505
44	CEBPB	chr2:47304058-47304312	HepG2	liver:	n/a	n/a
45	CEBPB	chr2:47298250-47298947	HepG2	liver:	n/a	n/a
46	CEBPB	chr2:47303699-47304921	A549	lung:	n/a	n/a
47	CEBPB	chr2:47306048-47306492	HepG2	liver:	n/a	chr2:47306149-47306160
48	CEBPB	chr2:47285315-47285697	HepG2	liver:	n/a	chr2:47285496-47285505 chr2:47285494-47285505
49	CEBPB	chr2:47285388-47285563	A549	lung:	n/a	chr2:47285496-47285505 chr2:47285494-47285505
50	CEBPB	chr2:47306078-47306414	A549	lung:	n/a	chr2:47306149-47306160

(count:549 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:47302995-47303045	SK-N-SH	brain:	n/a
2	chr2:47302995-47303045	PrEC	prostate:	n/a
3	chr2:47283713-47283763	Jurkat	blood:	n/a
4	chr2:47297177-47297227	Hela-S3	cervix:	n/a
5	chr2:47276456-47276506	AG04450	lung:	fetal
6	chr2:47302995-47303045	SAEC	small airway:	n/a
7	chr2:47302995-47303045	SKMC	muscle:	n/a
8	chr2:47290974-47291024	HMEC	breast:	n/a
9	chr2:47290974-47291024	AoSMC	blood vessel:	n/a
10	chr2:47295058-47295108	PFSK-1	brain:	n/a
11	chr2:47297177-47297227	NH-A	brain:	n/a
12	chr2:47276456-47276506	NH-A	brain:	n/a
13	chr2:47302995-47303045	A549	lung:	n/a
14	chr2:47290974-47291024	HCT-116	colon:	n/a
15	chr2:47295058-47295108	NHDF-neo	bronchial:	n/a
16	chr2:47283713-47283763	GM12878	blood:	n/a
17	chr2:47295058-47295108	ECC-1	luminal epithelium:	n/a
18	chr2:47291703-47291753	HRE	kidney:	n/a
19	chr2:47302995-47303045	NHDF-neo	bronchial:	n/a
20	chr2:47276456-47276506	AG04449	skin:	fetal
21	chr2:47295058-47295108	T-47D	breast:	n/a
22	chr2:47297177-47297227	T-47D	breast:	n/a
23	chr2:47276456-47276506	CMK	blood:	n/a
24	chr2:47297177-47297227	ECC-1	luminal epithelium:	n/a
25	chr2:47283713-47283763	U87	brain:	n/a
26	chr2:47305388-47305438	HCF	heart:	n/a
27	chr2:47276456-47276506	HCF	heart:	n/a
28	chr2:47276456-47276506	K562	blood:	n/a
29	chr2:47290974-47291024	LNCaP	prostate:	n/a
30	chr2:47283713-47283763	AG10803	skin:	n/a
31	chr2:47291703-47291753	HCM	heart:	n/a
32	chr2:47283713-47283763	PrEC	prostate:	n/a
33	chr2:47283713-47283763	HEEpiC	esophagus:	n/a
34	chr2:47305388-47305438	GM12878	blood:	n/a
35	chr2:47302995-47303045	GM12878	blood:	n/a
36	chr2:47297177-47297227	HPAEpiC	pulmonary alveolar:	n/a
37	chr2:47276456-47276506	LNCaP	prostate:	n/a
38	chr2:47291703-47291753	PFSK-1	brain:	n/a
39	chr2:47297177-47297227	CMK	blood:	n/a
40	chr2:47295058-47295108	HRPEpiC	eye:	n/a
41	chr2:47295058-47295108	HAEpiC	amniotic membrane:	n/a
42	chr2:47276456-47276506	HRCEpiC	kidney:	n/a
43	chr2:47297177-47297227	NHBE	bronchial:	n/a
44	chr2:47295058-47295108	H1-hESC	embryonic stem cell:	embryo
45	chr2:47302995-47303045	AG09309	skin:	n/a
46	chr2:47291703-47291753	NH-A	brain:	n/a
47	chr2:47298563-47298613	GM06990	blood:	n/a
48	chr2:47295058-47295108	GM12878	blood:	n/a
49	chr2:47297177-47297227	HEEpiC	esophagus:	n/a
50	chr2:47298563-47298613	NHBE	bronchial:	n/a

(count:70 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr2:47283603..47286484-chr2:47288928..47291971,4	K562	blood:
2	chr2:47271461..47273944-chr2:47289960..47292872,2	K562	blood:
3	chr2:47302270..47304198-chr2:47307298..47308850,2	MCF-7	breast:
4	chr2:47275712..47277824-chr2:47278720..47280431,2	K562	blood:
5	chr2:47311106..47313250-chr2:47322578..47324877,2	K562	blood:
6	chr2:47297108..47300673-chr2:47304396..47307131,4	K562	blood:
7	chr2:47295023..47298657-chr2:47300855..47310213,9	MCF-7	breast:
8	chr2:47296882..47300780-chr2:47402133..47404640,4	K562	blood:
9	chr2:47287750..47290295-chr2:47291902..47294626,3	K562	blood:
10	chr2:47295441..47298329-chr2:47298635..47300784,3	MCF-7	breast:
11	chr2:47288474..47290884-chr2:47401391..47403774,3	K562	blood:
12	chr2:47303667..47305608-chr2:47307112..47308819,2	MCF-7	breast:
13	chr2:47283603..47286484-chr2:47288928..47291971,4	K562	blood:
14	chr2:47271244..47274023-chr2:47277636..47280377,2	K562	blood:
15	chr2:47214273..47214840-chr2:47276289..47276999,3	K562	blood:
16	chr2:47271650..47273427-chr2:47295265..47298001,2	MCF-7	breast:
17	chr2:47293721..47296795-chr2:47297396..47301843,4	K562	blood:
18	chr2:47266085..47268929-chr2:47281885..47283507,2	K562	blood:
19	chr2:47166648..47168601-chr2:47272959..47275479,2	MCF-7	breast:
20	chr2:47296939..47299679-chr2:47400831..47403571,2	MCF-7	breast:
21	chr2:47292753..47295040-chr2:47295086..47296982,3	MCF-7	breast:
22	chr2:47304605..47306931-chr2:47316870..47318800,2	MCF-7	breast:
23	chr2:47303169..47307562-chr2:47312603..47317235,6	MCF-7	breast:
24	chr2:47292091..47294356-chr2:47400826..47402359,2	K562	blood:
25	chr2:47302688..47305561-chr2:47417562..47420065,2	MCF-7	breast:
26	chr2:47298364..47306534-chr2:47399903..47404660,8	K562	blood:
27	chr2:47304449..47306633-chr2:47306977..47308538,2	MCF-7	breast:
28	chr2:47268893..47270456-chr2:47273694..47275642,2	K562	blood:
29	chr2:47260609..47263148-chr2:47275034..47277787,2	MCF-7	breast:
30	chr2:47279825..47282668-chr2:47398550..47402456,3	K562	blood:
31	chr2:47311949..47314446-chr2:47401904..47404430,2	K562	blood:
32	chr2:47270398..47274719-chr2:47275906..47278551,5	MCF-7	breast:
33	chr2:47303667..47305608-chr2:47307112..47308819,2	MCF-7	breast:
34	chr2:47294856..47296527-chr2:47304225..47305749,2	K562	blood:
35	chr2:47277208..47279306-chr2:47287404..47289721,2	MCF-7	breast:
36	chr2:47297108..47300673-chr2:47304396..47307131,4	K562	blood:
37	chr2:47299662..47307017-chr2:47401146..47405423,11	MCF-7	breast:
38	chr2:47305124..47307804-chr2:47314133..47316358,4	MCF-7	breast:
39	chr2:47275907..47277725-chr2:47402303..47404362,2	K562	blood:
40	chr2:47302270..47304198-chr2:47307298..47308850,2	MCF-7	breast:
41	chr2:47303567..47305650-chr2:47402642..47405179,3	MCF-7	breast:
42	chr2:47212859..47216615-chr2:47301507..47304672,4	MCF-7	breast:
43	chr2:47285787..47290884-chr2:47401621..47403774,5	K562	blood:
44	chr2:47292470..47294231-chr2:47312164..47314753,2	K562	blood:
45	chr2:47313243..47315794-chr2:47321683..47323508,2	MCF-7	breast:
46	chr2:47303169..47307562-chr2:47312603..47317235,6	MCF-7	breast:
47	chr2:47288795..47291567-chr2:47291902..47294947,3	K562	blood:
48	chr2:47277208..47279306-chr2:47287404..47289721,2	MCF-7	breast:
49	chr2:47312417..47315295-chr2:47318337..47320421,2	MCF-7	breast:
50	chr2:47312009..47319415-chr2:47398595..47405362,13	K562	blood:

(count:10 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TTC7A-2	chr2:47307560-47307657	NONHSAT070547
2	lnc-CALM2-3	chr2:47295326-47295695	NONHSAT070545
3	lnc-CALM2-3	chr2:47301452-47301966	ucscGeneNc_uc002rvu_1
4	lnc-CALM2-3	chr2:47292896-47293276	NONHSAT070542
5	lnc-AC016722.2.1-2	chr2:47298261-47298343	ENSG00000225187.1
6	lnc-AC016722.2.1-2	chr2:47294961-47295737	ENSG00000225187.1
7	lnc-TTC7A-2	chr2:47307549-47307657	l_1829_chr2:47307548-47321740_76bGuttman_hLF
8	lnc-CALM2-3	chr2:47294592-47295902	ucscGeneNc_uc002rvu_1
9	lnc-TTC7A-2	chr2:47306437-47306522	NONHSAT070546
10	lnc-CALM2-3	chr2:47273956-47274058	NONHSAT070540

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	TTC7A	hsa-miR-124-3p	chr2:47301272-47301291
2	TTC7A	hsa-miR-124-3p	chr2:47301618-47301624

Variant related genes	Relation type
ENSG00000225187	TF binding region
ENSG00000225187	CpG island
ENSG00000143933	chromatin interactions
ENSG00000225187	chromatin interactions
ENSG00000068724	chromatin interactions
ENSG00000233845	chromatin interactions

Extended variants
information (count: 2102 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:2102 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7593339	chr2:47273732-47273733	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs143752110	chr2:47273756-47273757	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs543591822	chr2:47273820-47273821	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs148133025	chr2:47273826-47273827	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs35245454	chr2:47273854-47273855	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs560141652	chr2:47273909-47273910	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs201281138	chr2:47273911-47273912	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs180670954	chr2:47273924-47273925	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs184730897	chr2:47273944-47273945	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs547832369	chr2:47273949-47273950	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs562985986	chr2:47273950-47273951	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs566046464	chr2:47273966-47273967	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
13	rs141901057	chr2:47274027-47274028	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
14	rs189285466	chr2:47274028-47274029	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
15	rs570134473	chr2:47274045-47274046	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
16	rs4953450	chr2:47274051-47274052	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs559067836	chr2:47274079-47274080	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs181693697	chr2:47274098-47274099	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs534959697	chr2:47274120-47274121	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs185778065	chr2:47274168-47274169	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs191554513	chr2:47274186-47274187	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs369723054	chr2:47274203-47274204	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs551847087	chr2:47274204-47274205	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs576045449	chr2:47274222-47274223	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs113150549	chr2:47274237-47274238	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs11686678	chr2:47274246-47274247	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs565043738	chr2:47274249-47274250	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs147261315	chr2:47274255-47274256	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs541373418	chr2:47274259-47274260	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs114428349	chr2:47274302-47274303	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs527621023	chr2:47274327-47274328	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs530089681	chr2:47274350-47274351	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs548553530	chr2:47274406-47274407	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs140717340	chr2:47274411-47274412	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs4953451	chr2:47274443-47274444	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs552519372	chr2:47274490-47274491	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs201666873	chr2:47274499-47274500	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs570744423	chr2:47274513-47274514	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs534866247	chr2:47274531-47274532	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs72872981	chr2:47274543-47274544	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs568405575	chr2:47274551-47274552	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs142998442	chr2:47274563-47274564	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs115175738	chr2:47274571-47274572	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs576075897	chr2:47274572-47274573	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs537113151	chr2:47274584-47274585	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs370457917	chr2:47274619-47274620	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs369381851	chr2:47274641-47274642	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs114133814	chr2:47274645-47274646	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs541227094	chr2:47274725-47274726	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs559728415	chr2:47274747-47274748	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Non-small cell lung cancer	18927303	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Myelofibrosis	22110671	CNVD
Hypotonia	17579669	CNVD
Hypotonia-Cystinuria syndrome	16385448	CNVD
Glioblastoma multiforme	17002787	CNVD
Cystinuria	17625506	CNVD
Breast cancer	16272173	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Ovarian cancer	22355333	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:2352 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47230200-47302800	Strong transcription	Dnd41	blood
2	chr2:47234400-47283600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr2:47236000-47278600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr2:47246000-47283800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr2:47246800-47281600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr2:47252000-47283400	Strong transcription	Thymus	Thymus
7	chr2:47257000-47277000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr2:47258400-47282600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr2:47259600-47295000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr2:47262000-47283400	Weak transcription	Fetal Brain Male	brain
11	chr2:47262000-47283600	Weak transcription	Small Intestine	intestine
12	chr2:47263000-47283200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr2:47263400-47283200	Weak transcription	Fetal Kidney	kidney
14	chr2:47266200-47280800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr2:47266400-47280200	Strong transcription	Primary T helper cells PMA-I stimulated	--
16	chr2:47266400-47283000	Strong transcription	Primary T cells from cord blood	blood
17	chr2:47266600-47282600	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr2:47266800-47282800	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr2:47267200-47281400	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr2:47267200-47282800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr2:47267400-47282600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr2:47268600-47274000	Enhancers	Brain Cingulate Gyrus	brain
23	chr2:47268600-47282000	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr2:47270000-47282800	Strong transcription	Primary hematopoietic stem cells	blood
25	chr2:47270000-47282800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr2:47270200-47280200	Strong transcription	GM12878-XiMat	blood
27	chr2:47270400-47282200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr2:47270400-47282400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr2:47270400-47282800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr2:47270600-47275800	Strong transcription	Fetal Intestine Large	intestine
31	chr2:47270600-47278800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr2:47270800-47279000	Weak transcription	Fetal Lung	lung
33	chr2:47270800-47296600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr2:47271000-47277200	Strong transcription	Sigmoid Colon	Sigmoid Colon
35	chr2:47271000-47277600	Weak transcription	Stomach Mucosa	stomach
36	chr2:47271200-47275000	Genic enhancers	Fetal Muscle Trunk	muscle
37	chr2:47271200-47276000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr2:47271200-47283000	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr2:47271200-47283000	Strong transcription	Fetal Thymus	thymus
40	chr2:47271200-47283200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr2:47271400-47274200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr2:47271400-47274400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr2:47271400-47275600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr2:47271400-47275600	Genic enhancers	Adipose Nuclei	Adipose
45	chr2:47271400-47276600	Weak transcription	Psoas Muscle	Psoas
46	chr2:47271400-47278800	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr2:47271400-47282400	Strong transcription	Fetal Stomach	stomach
48	chr2:47271400-47283000	Strong transcription	Fetal Intestine Small	intestine
49	chr2:47271400-47283200	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr2:47271400-47283200	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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