Variant report

Variant	nsv547678
Chromosome Location	chr1:147191841-147375981
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1705)
CpG islands
(count:1586)
Chromatin interactive
region (count:172)
LncRNA
region (count:22)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1705 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:147280155-147280630	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:147323221-147323706	HepG2	liver:	n/a	n/a
3	ARID3A	chr1:147287788-147287850	K562	blood:	n/a	n/a
4	ATF1	chr1:147283979-147283988	K562	blood:	n/a	n/a
5	ATF1	chr1:147323378-147323664	K562	blood:	n/a	n/a
6	ATF1	chr1:147364897-147365149	K562	blood:	n/a	n/a
7	ATF1	chr1:147293156-147293271	K562	blood:	n/a	n/a
8	ATF3	chr1:147280132-147280418	HepG2	liver:	n/a	n/a
9	ATF3	chr1:147323244-147323730	K562	blood:	n/a	n/a
10	BACH1	chr1:147309256-147309748	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr1:147362408-147362705	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr1:147305765-147305846	H1-hESC	embryonic stem cell:	n/a	n/a
13	BCL3	chr1:147366341-147366721	GM12878	blood:	n/a	n/a
14	BCL3	chr1:147311445-147311805	GM12878	blood:	n/a	n/a
15	BCL3	chr1:147366452-147366707	GM12878	blood:	n/a	n/a
16	BCL3	chr1:147321530-147321918	GM12878	blood:	n/a	n/a
17	BHLHE40	chr1:147280127-147280501	HepG2	liver:	n/a	n/a
18	BHLHE40	chr1:147362476-147362595	GM12878	blood:	n/a	n/a
19	BHLHE40	chr1:147314816-147315023	HepG2	liver:	n/a	chr1:147314922-147314931 chr1:147314921-147314930 chr1:147314922-147314931 chr1:147314916-147314937
20	BHLHE40	chr1:147314786-147315093	K562	blood:	n/a	chr1:147314922-147314931 chr1:147314921-147314930 chr1:147314922-147314931 chr1:147314916-147314937
21	BHLHE40	chr1:147362395-147362585	K562	blood:	n/a	n/a
22	BHLHE40	chr1:147280178-147280382	HepG2	liver:	n/a	n/a
23	BRCA1	chr1:147362461-147362786	HepG2	liver:	n/a	n/a
24	BRCA1	chr1:147362338-147362700	H1-hESC	embryonic stem cell:	n/a	n/a
25	BRCA1	chr1:147273148-147273197	Hela-S3	cervix:	n/a	chr1:147273166-147273173
26	CBX3	chr1:147323338-147323739	K562	blood:	n/a	n/a
27	CCNT2	chr1:147320063-147320309	K562	blood:	n/a	n/a
28	CEBPB	chr1:147259741-147259892	K562	blood:	n/a	n/a
29	CEBPB	chr1:147253715-147253880	HepG2	liver:	n/a	chr1:147253804-147253815 chr1:147253805-147253816
30	CEBPB	chr1:147324930-147325087	HepG2	liver:	n/a	chr1:147325017-147325028
31	CEBPB	chr1:147259715-147259949	A549	lung:	n/a	n/a
32	CEBPB	chr1:147280153-147280499	K562	blood:	n/a	chr1:147280320-147280331 chr1:147280273-147280284
33	CEBPB	chr1:147193797-147194355	MCF-7	breast:	n/a	n/a
34	CEBPB	chr1:147279582-147279829	Hela-S3	cervix:	n/a	n/a
35	CEBPB	chr1:147280132-147280751	A549	lung:	n/a	chr1:147280320-147280331 chr1:147280273-147280284
36	CEBPB	chr1:147229451-147229745	Hela-S3	cervix:	n/a	chr1:147229607-147229618
37	CEBPB	chr1:147193738-147194358	MCF-7	breast:	n/a	n/a
38	CEBPB	chr1:147216573-147216767	Hela-S3	cervix:	n/a	chr1:147216614-147216625
39	CEBPB	chr1:147277448-147277776	HepG2	liver:	n/a	n/a
40	CEBPB	chr1:147280100-147280410	HepG2	liver:	n/a	chr1:147280320-147280331 chr1:147280273-147280284
41	CEBPB	chr1:147247214-147247439	Hela-S3	cervix:	n/a	n/a
42	CEBPB	chr1:147193787-147194298	Hela-S3	cervix:	n/a	n/a
43	CEBPB	chr1:147269626-147269645	Hela-S3	cervix:	n/a	n/a
44	CEBPB	chr1:147216542-147216757	HepG2	liver:	n/a	chr1:147216614-147216625
45	CEBPB	chr1:147280112-147280723	MCF-7	breast:	n/a	chr1:147280320-147280331 chr1:147280273-147280284
46	CEBPB	chr1:147259630-147259998	MCF-7	breast:	n/a	n/a
47	CEBPB	chr1:147278481-147278496	HepG2	liver:	n/a	n/a
48	CEBPB	chr1:147193887-147194133	A549	lung:	n/a	n/a
49	CEBPB	chr1:147229457-147229747	HepG2	liver:	n/a	chr1:147229607-147229618
50	CEBPB	chr1:147280093-147280519	HepG2	liver:	n/a	chr1:147280320-147280331 chr1:147280273-147280284

(count:1586 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:147253401-147253451	SKMC	muscle:	n/a
2	chr1:147309347-147309397	HCPEpiC	choroid plexus:	n/a
3	chr1:147245485-147245535	MCF10A-Er-Src	breast:	n/a
4	chr1:147197536-147197586	HepG2	liver:	n/a
5	chr1:147374967-147375017	SAEC	small airway:	n/a
6	chr1:147374938-147374988	AG04450	lung:	fetal
7	chr1:147233738-147233788	HepG2	liver:	n/a
8	chr1:147373572-147373622	RPTEC	kidney:	n/a
9	chr1:147231061-147231111	BE2_C	brain:	n/a
10	chr1:147233887-147233937	CMK	blood:	n/a
11	chr1:147232608-147232658	PFSK-1	brain:	n/a
12	chr1:147197536-147197586	U87	brain:	n/a
13	chr1:147230209-147230259	RPTEC	kidney:	n/a
14	chr1:147233743-147233793	T-47D	breast:	n/a
15	chr1:147233743-147233793	HCPEpiC	choroid plexus:	n/a
16	chr1:147245494-147245544	HepG2	liver:	n/a
17	chr1:147374847-147374897	HRPEpiC	eye:	n/a
18	chr1:147374847-147374897	ovcar-3	ovarian:	n/a
19	chr1:147246329-147246379	AG04449	skin:	fetal
20	chr1:147230452-147230502	HEEpiC	esophagus:	n/a
21	chr1:147246154-147246204	HPAEpiC	pulmonary alveolar:	n/a
22	chr1:147373572-147373622	HUVEC	blood vessel:	n/a
23	chr1:147246839-147246889	A549	lung:	n/a
24	chr1:147245494-147245544	SK-N-MC	brain:	n/a
25	chr1:147232608-147232658	RPTEC	kidney:	n/a
26	chr1:147233743-147233793	GM19239	blood:	n/a
27	chr1:147320855-147320905	T-47D	breast:	n/a
28	chr1:147232608-147232658	U87	brain:	n/a
29	chr1:147245494-147245544	HRCEpiC	kidney:	n/a
30	chr1:147309347-147309397	GM12892	blood:	n/a
31	chr1:147374938-147374988	LNCaP	prostate:	n/a
32	chr1:147309347-147309397	ECC-1	luminal epithelium:	n/a
33	chr1:147230209-147230259	AG09309	skin:	n/a
34	chr1:147231061-147231111	HL-60	blood:	n/a
35	chr1:147374938-147374988	GM19239	blood:	n/a
36	chr1:147245168-147245218	BE2_C	brain:	n/a
37	chr1:147245485-147245535	SKMC	muscle:	n/a
38	chr1:147245168-147245218	NB4	blood:	n/a
39	chr1:147233887-147233937	SK-N-SH_RA	brain:	n/a
40	chr1:147231862-147231912	HUVEC	blood vessel:	n/a
41	chr1:147374847-147374897	PrEC	prostate:	n/a
42	chr1:147309347-147309397	NH-A	brain:	n/a
43	chr1:147245485-147245535	BE2_C	brain:	n/a
44	chr1:147253401-147253451	MCF-7	breast:	n/a
45	chr1:147230452-147230502	HMEC	breast:	n/a
46	chr1:147373572-147373622	Hela-S3	cervix:	n/a
47	chr1:147320855-147320905	HRPEpiC	eye:	n/a
48	chr1:147197536-147197586	Hela-S3	cervix:	n/a
49	chr1:147373572-147373622	BE2_C	brain:	n/a
50	chr1:147373572-147373622	A549	lung:	n/a

(count:172 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr1:147218316..147222428-chr1:147225799..147230204,6	MCF-7	breast:
2	chr1:147306922..147308460-chr1:147311767..147313691,2	K562	blood:
3	chr1:147360617..147363079-chr1:147363200..147366053,2	MCF-7	breast:
4	chr1:146979897..146982754-chr1:147362487..147364727,2	MCF-7	breast:
5	chr1:147208419..147212694-chr1:147216367..147220265,3	MCF-7	breast:
6	chr1:147259078..147261479-chr1:147266280..147268485,2	MCF-7	breast:
7	chr1:147218454..147220532-chr1:147233214..147234923,2	MCF-7	breast:
8	chr1:147348553..147350573-chr1:147355843..147358338,2	K562	blood:
9	chr1:147187841..147191070-chr1:147191880..147194262,4	MCF-7	breast:
10	chr1:147257526..147261196-chr1:147263496..147265511,3	MCF-7	breast:
11	chr1:147209469..147211828-chr1:147222916..147225569,2	MCF-7	breast:
12	chr1:147280614..147282894-chr1:147286254..147288918,3	K562	blood:
13	chr1:147367307..147370280-chr1:147373797..147375775,3	MCF-7	breast:
14	chr1:147272185..147274968-chr1:147288763..147290507,2	K562	blood:
15	chr1:147254319..147256959-chr1:147257613..147260137,2	K562	blood:
16	chr1:147320130..147322346-chr1:147324928..147326678,2	MCF-7	breast:
17	chr1:147274506..147277076-chr1:147285425..147287009,2	K562	blood:
18	chr1:147232773..147235381-chr1:147235921..147238475,2	K562	blood:
19	chr1:147272185..147274968-chr1:147288763..147290507,2	K562	blood:
20	chr1:147194515..147197013-chr1:147361402..147365473,61	MCF-7	breast:
21	chr1:147234853..147236683-chr1:147245113..147247839,2	K562	blood:
22	chr1:147216774..147217411-chr1:147362235..147362885,2	K562	blood:
23	chr1:147315587..147317893-chr1:147319705..147321568,2	MCF-7	breast:
24	chr1:147318368..147320787-chr1:147321471..147323177,2	K562	blood:
25	chr1:147373212..147375085-chr1:147375967..147378614,2	K562	blood:
26	chr1:147194479..147196491-chr1:147360773..147362653,2	MCF-7	breast:
27	chr1:147360617..147363079-chr1:147363200..147366053,2	MCF-7	breast:
28	chr1:147247003..147248756-chr1:147253569..147255678,2	K562	blood:
29	chr1:147195860..147197594-chr1:147201052..147203782,2	K562	blood:
30	chr1:147213977..147216109-chr1:147228245..147230874,2	K562	blood:
31	chr1:147342644..147346148-chr1:147349020..147352796,4	MCF-7	breast:
32	chr1:147247003..147248756-chr1:147253569..147255678,2	K562	blood:
33	chr1:147355820..147357949-chr1:147360932..147362528,2	MCF-7	breast:
34	chr1:147171855..147172726-chr1:147363952..147364477,2	MCF-7	breast:
35	chr1:147112272..147114709-chr1:147363667..147365778,2	MCF-7	breast:
36	chr1:147234187..147237058-chr1:147240099..147241730,2	MCF-7	breast:
37	chr1:147365216..147366740-chr1:147366806..147368719,2	MCF-7	breast:
38	chr1:146966674..146967846-chr1:147362060..147362896,3	MCF-7	breast:
39	chr1:147254319..147256959-chr1:147257613..147260137,2	K562	blood:
40	chr1:147326651..147329295-chr1:147342003..147343727,2	MCF-7	breast:
41	chr1:147207565..147209507-chr1:147231514..147233166,2	K562	blood:
42	chr1:147229847..147231847-chr1:147237550..147240548,2	MCF-7	breast:
43	chr1:147266191..147267912-chr1:147271628..147273288,2	MCF-7	breast:
44	chr1:147192873..147193769-chr1:147362369..147362928,2	MCF-7	breast:
45	chr1:147212472..147214713-chr1:147214718..147216268,2	MCF-7	breast:
46	chr1:147209873..147212290-chr1:147378645..147380780,2	K562	blood:
47	chr1:147275715..147278808-chr1:147281982..147285305,3	K562	blood:
48	chr1:147189146..147191909-chr1:147192462..147194196,3	MCF-7	breast:
49	chr1:147368859..147371195-chr1:147375961..147377852,2	MCF-7	breast:
50	chr1:147225486..147227195-chr1:147227978..147229551,2	MCF-7	breast:

(count:22 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GJA5-1	chr1:147210816-147210939	XLOC_001006
2	lnc-BCL9-4	chr1:147194946-147195009	NONHSAT006041
3	lnc-GJA8-1	chr1:147264755-147267415	XLOC_000387
4	lnc-BCL9-4	chr1:147199410-147199544	NONHSAT006041
5	lnc-BCL9-4	chr1:147199410-147199544	NONHSAT006043
6	lnc-GJA5-1	chr1:147209596-147209751	XLOC_001006
7	lnc-BCL9-2	chr1:147230462-147230517	ENSG00000234482.1
8	lnc-BCL9-4	chr1:147199915-147199992	NONHSAT006043
9	lnc-BCL9-4	chr1:147194955-147195009	NONHSAT006043
10	lnc-BCL9-4	chr1:147218961-147219678	ucscGeneNc_uc009wkw_1
11	lnc-BCL9-4	chr1:147199409-147199544	NONHSAT006044
12	lnc-BCL9-4	chr1:147199915-147200203	NONHSAT006044
13	lnc-GJA5-2	chr1:147283214-147283468	XLOC_001007
14	lnc-BCL9-2	chr1:147229426-147229879	ENSG00000234482.1
15	lnc-BCL9-4	chr1:147199915-147199992	ucscGeneNc_uc009wkw_1
16	lnc-BCL9-4	chr1:147199410-147199544	ucscGeneNc_uc009wkw_1
17	lnc-GJA8-1	chr1:147249700-147249833	XLOC_000387
18	lnc-GJA8-1	chr1:147249689-147249833	XLOC_000387
19	lnc-BCL9-4	chr1:147197029-147197201	ucscGeneNc_uc009wkw_1
20	lnc-BCL9-4	chr1:147217869-147218218	NONHSAT006041
21	lnc-GJA8-1	chr1:147260720-147261065	XLOC_000387
22	lnc-GJA5-2	chr1:147281915-147282433	XLOC_001007

No data

Variant related genes	Relation type
GJA5	TF binding region
ENSG00000234482	TF binding region
ENSG00000223728	TF binding region
ENSG00000234190	TF binding region
GJA8	TF binding region
GJA5	CpG island
ENSG00000234482	CpG island
ENSG00000223728	CpG island
ENSG00000234190	CpG island
GJA8	CpG island
ENSG00000143140	chromatin interactions
ENSG00000234482	chromatin interactions
ENSG00000223728	chromatin interactions
ENSG00000234190	chromatin interactions
ENSG00000162836	chromatin interactions
ENSG00000121634	chromatin interactions
SOCS4	miRNA target sites
ARHGAP1	miRNA target sites

Extended variants
information (count: 5501 )
Associated
traits (count: 152 )

Variant overlapped rSNPs/rCNVs (count:5501 , 50 per page) page: 1 2 3 4 5 6 7 ... 111

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12755965	chr1:147191841-147191842	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs116514014	chr1:147191858-147191859	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs587730125	chr1:147191861-147191862	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs139255930	chr1:147191881-147191882	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs137929557	chr1:147191922-147191923	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs587689088	chr1:147191943-147191944	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs587727023	chr1:147191944-147191945	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs587643972	chr1:147191950-147191951	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs61811737	chr1:147191954-147191955	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs587774591	chr1:147191955-147191956	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs34739004	chr1:147192029-147192030	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs188105160	chr1:147192058-147192059	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs377087252	chr1:147192129-147192130	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs587752586	chr1:147192148-147192149	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs587654621	chr1:147192169-147192170	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs587705581	chr1:147192181-147192182	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs371384331	chr1:147192187-147192188	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs587609649	chr1:147192203-147192204	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs180844040	chr1:147192238-147192239	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs587726633	chr1:147192241-147192242	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs587603625	chr1:147192245-147192246	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs587679608	chr1:147192280-147192281	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs186526966	chr1:147192308-147192309	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs140777847	chr1:147192335-147192336	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs587670510	chr1:147192342-147192343	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs587721968	chr1:147192349-147192350	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs587649966	chr1:147192354-147192355	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs587707038	chr1:147192360-147192361	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs4997316	chr1:147192427-147192428	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs6661280	chr1:147192514-147192515	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs587693572	chr1:147192540-147192541	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs371049013	chr1:147192688-147192689	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs587755160	chr1:147192732-147192733	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs4581320	chr1:147192756-147192757	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs189754675	chr1:147192797-147192798	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs587690523	chr1:147192801-147192802	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs4950476	chr1:147192818-147192819	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs587644982	chr1:147192824-147192825	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs138582586	chr1:147192967-147192968	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs114554799	chr1:147192968-147192969	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs368432873	chr1:147192978-147192979	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs181857533	chr1:147193023-147193024	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs186830085	chr1:147193029-147193030	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs587667928	chr1:147193069-147193070	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs115021876	chr1:147193079-147193080	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs587625265	chr1:147193131-147193132	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs587682634	chr1:147193147-147193148	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs587766490	chr1:147193336-147193337	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs142195493	chr1:147193394-147193395	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs587675779	chr1:147193441-147193442	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:152)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
small cell lung cancer	20016488	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21611746	CNVD
Retinoblastoma	19183342	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22499536	CNVD
Schizophrenia	18923514	CNVD
Neuroblastoma	21124317	CNVD
Autism	20970697	CNVD
Bipolar disorder	19114987	CNVD
Epilepsy	20970697	CNVD
Schizophrenia	22118685	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	21956041	CNVD
Schizophrenia	20970697	CNVD
Addison''s disease	21851588	CNVD
Heart disease	22199024	CNVD
Mental retardation	19951919	CNVD
Ovarian cancer	20844748	CNVD
Schizophrenia	21399695	CNVD
Prostate cancer	17217626	CNVD
Congenital heart defect	22199024	CNVD
TAR Syndrome	17847015	CNVD
Thrombocytopenia-absent radius syndrome	17236129	CNVD
Autism	18784092	CNVD
Congenital abnormalities	18784092	CNVD
Mental retardation	18784092	CNVD
Schizophrenia	19855392	CNVD
Ovarian cancer	22174824	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Osteosarcoma	19286668	CNVD
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	18703704	CNVD
Lung adenocarcinoma	17982442	CNVD
Breast cancer	21509527	CNVD
Tetralogy of Fallot	22912587	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Lung squamous cell carcinoma	20842114	CNVD
Schizophrenia	20967226	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	20369283	CNVD
Oral cancer	21386901	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Pancreatic cancer	17952125	CNVD
Obesity	21131291	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Breast cancer	22522925	CNVD
Melanoma	21430779	CNVD
Cancer	21272361	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Neuroblastoma	19536264	CNVD
Pancreatic cancer	21811587	CNVD

Chromatin state (count:1306 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:147187800-147192000	Enhancers	HepG2	liver
2	chr1:147189000-147192400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:147189400-147193000	Enhancers	Esophagus	oesophagus
4	chr1:147189600-147192000	Weak transcription	A549	lung
5	chr1:147189600-147192000	Enhancers	HSMMtube	muscle
6	chr1:147190000-147192000	Enhancers	Stomach Mucosa	stomach
7	chr1:147190200-147194200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:147190200-147198800	Weak transcription	Right Atrium	heart
9	chr1:147190600-147193600	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr1:147191000-147194800	Enhancers	Placenta	Placenta
11	chr1:147191200-147192000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
12	chr1:147191200-147192200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:147191200-147192400	Weak transcription	Fetal Muscle Leg	muscle
14	chr1:147191400-147192000	Enhancers	NHEK	skin
15	chr1:147191600-147194200	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr1:147191800-147192600	Weak transcription	Left Ventricle	heart
17	chr1:147191800-147193600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:147191800-147193600	Weak transcription	HMEC	breast
19	chr1:147191800-147193800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr1:147191800-147193800	Weak transcription	Pancreas	Pancrea
21	chr1:147192000-147193600	Weak transcription	NHEK	skin
22	chr1:147192000-147193800	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr1:147192200-147193600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr1:147192400-147193200	Enhancers	Fetal Muscle Leg	muscle
25	chr1:147192600-147192800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr1:147192600-147192800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr1:147192600-147192800	Enhancers	Left Ventricle	heart
28	chr1:147192600-147193000	Enhancers	Fetal Muscle Trunk	muscle
29	chr1:147192800-147194200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr1:147193000-147194200	Weak transcription	Esophagus	oesophagus
31	chr1:147193400-147194600	Enhancers	Hela-S3	cervix
32	chr1:147193600-147194200	Enhancers	NHEK	skin
33	chr1:147193600-147194600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr1:147193600-147194600	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr1:147193600-147194600	Enhancers	HMEC	breast
36	chr1:147193800-147194000	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr1:147193800-147194000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr1:147193800-147194200	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr1:147193800-147194200	Enhancers	Pancreas	Pancrea
40	chr1:147193800-147194400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr1:147193800-147194400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr1:147193800-147194400	Enhancers	Adipose Nuclei	Adipose
43	chr1:147194000-147194200	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr1:147194000-147194400	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr1:147194000-147194600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr1:147194200-147194400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr1:147194200-147194400	Enhancers	Esophagus	oesophagus
48	chr1:147194200-147194400	Bivalent Enhancer	NHEK	skin
49	chr1:147194200-147194600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
50	chr1:147194200-147194600	Enhancers	H1 Cell Line	embryonic stem cell

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