Variant report

Variant	nsv1050892
Chromosome Location	chr15:42128855-42186482
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:687)
CpG islands
(count:1282)
Chromatin interactive
region (count:70)
LncRNA
region (count:10)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:687 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr15:42174187-42174314	H1-hESC	embryonic stem cell:	n/a	n/a
2	BHLHE40	chr15:42152267-42152554	K562	blood:	n/a	n/a
3	BHLHE40	chr15:42140864-42141081	K562	blood:	n/a	n/a
4	BHLHE40	chr15:42171644-42171902	K562	blood:	n/a	chr15:42171770-42171779 chr15:42171764-42171785 chr15:42171768-42171781 chr15:42171770-42171779 chr15:42171771-42171780
5	BHLHE40	chr15:42174084-42174352	K562	blood:	n/a	n/a
6	CBX3	chr15:42174034-42174388	K562	blood:	n/a	n/a
7	CEBPB	chr15:42130463-42131106	MCF-7	breast:	n/a	n/a
8	CEBPB	chr15:42130423-42131080	MCF-7	breast:	n/a	n/a
9	CEBPB	chr15:42142652-42143048	K562	blood:	n/a	n/a
10	CEBPB	chr15:42130622-42130811	H1-hESC	embryonic stem cell:	n/a	n/a
11	CEBPB	chr15:42142662-42143131	MCF-7	breast:	n/a	n/a
12	CEBPB	chr15:42130364-42131104	HCT-116	colon:	n/a	n/a
13	CEBPB	chr15:42140879-42141129	IMR90	lung:	n/a	n/a
14	CEBPB	chr15:42142672-42143048	ECC-1	luminal epithelium:	n/a	n/a
15	CEBPB	chr15:42130546-42130956	Hela-S3	cervix:	n/a	n/a
16	CEBPB	chr15:42142686-42143065	A549	lung:	n/a	n/a
17	CEBPB	chr15:42130634-42130834	K562	blood:	n/a	n/a
18	CEBPB	chr15:42142589-42143068	A549	lung:	n/a	n/a
19	CEBPB	chr15:42142696-42143062	IMR90	lung:	n/a	n/a
20	CEBPB	chr15:42142710-42143049	A549	lung:	n/a	n/a
21	CEBPB	chr15:42142646-42143071	Hela-S3	cervix:	n/a	n/a
22	CEBPB	chr15:42142786-42142940	K562	blood:	n/a	n/a
23	CEBPB	chr15:42149896-42150096	HepG2	liver:	n/a	n/a
24	CEBPB	chr15:42130320-42131100	HCT-116	colon:	n/a	n/a
25	CEBPB	chr15:42174115-42174137	H1-hESC	embryonic stem cell:	n/a	n/a
26	CEBPB	chr15:42142481-42143077	K562	blood:	n/a	n/a
27	CEBPB	chr15:42130435-42131103	ECC-1	luminal epithelium:	n/a	n/a
28	CEBPB	chr15:42142720-42143068	H1-hESC	embryonic stem cell:	n/a	n/a
29	CEBPB	chr15:42142700-42143050	HepG2	liver:	n/a	n/a
30	CEBPB	chr15:42142741-42142962	HepG2	liver:	n/a	n/a
31	CEBPB	chr15:42130451-42130951	ECC-1	luminal epithelium:	n/a	n/a
32	CEBPB	chr15:42142620-42143113	ECC-1	luminal epithelium:	n/a	n/a
33	CEBPB	chr15:42130600-42130870	IMR90	lung:	n/a	n/a
34	CEBPB	chr15:42162931-42163210	IMR90	lung:	n/a	n/a
35	CEBPB	chr15:42130584-42130895	HepG2	liver:	n/a	n/a
36	CEBPB	chr15:42142668-42143076	MCF-7	breast:	n/a	n/a
37	CHD2	chr15:42152437-42152610	HepG2	liver:	n/a	n/a
38	CHD2	chr15:42130752-42130928	Hela-S3	cervix:	n/a	n/a
39	CHD2	chr15:42174199-42174290	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr15:42152360-42152510	SK-N-SH_RA	brain:	n/a	n/a
41	CTCF	chr15:42152346-42152455	GM13977	blood:	n/a	n/a
42	CTCF	chr15:42152312-42152481	GM10266	blood:	n/a	n/a
43	CTCF	chr15:42146760-42146910	SAEC	small airway:	n/a	n/a
44	CTCF	chr15:42152354-42152483	MCF-7	breast:	n/a	n/a
45	CTCF	chr15:42173820-42173970	AG04449	skin:	n/a	n/a
46	CTCF	chr15:42169255-42169310	GM12891	blood:	n/a	n/a
47	CTCF	chr15:42152324-42152502	Fibrobl	skin:	n/a	n/a
48	CTCF	chr15:42170199-42170291	HepG2	liver:	n/a	n/a
49	CTCF	chr15:42135620-42135770	HBMEC	blood vessel:	n/a	n/a
50	CTCF	chr15:42161485-42161598	Hela-S3	cervix:	n/a	n/a

(count:1282 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:42130650-42130700	MCF-7	breast:	n/a
2	chr15:42130650-42130700	MCF-7	breast:	n/a
3	chr15:42174934-42174984	SAEC	small airway:	n/a
4	chr15:42178365-42178415	HMEC	breast:	n/a
5	chr15:42130650-42130700	AG04450	lung:	fetal
6	chr15:42140715-42140765	U87	brain:	n/a
7	chr15:42130735-42130785	Hela-S3	cervix:	n/a
8	chr15:42141147-42141197	HMEC	breast:	n/a
9	chr15:42186377-42186427	HCT-116	colon:	n/a
10	chr15:42170125-42170175	PrEC	prostate:	n/a
11	chr15:42129464-42129514	AoSMC	blood vessel:	n/a
12	chr15:42174934-42174984	HEK293	kidney:	embryo
13	chr15:42186473-42186523	HCF	heart:	n/a
14	chr15:42186473-42186523	AoSMC	blood vessel:	n/a
15	chr15:42186377-42186427	NHBE	bronchial:	n/a
16	chr15:42141147-42141197	HAEpiC	amniotic membrane:	n/a
17	chr15:42186473-42186523	PFSK-1	brain:	n/a
18	chr15:42131658-42131708	ECC-1	luminal epithelium:	n/a
19	chr15:42130650-42130700	HRCEpiC	kidney:	n/a
20	chr15:42174516-42174566	NHDF-neo	bronchial:	n/a
21	chr15:42130735-42130785	HIPEpiC	eye:	n/a
22	chr15:42130662-42130712	NHBE	bronchial:	n/a
23	chr15:42174934-42174984	NB4	blood:	n/a
24	chr15:42129464-42129514	CMK	blood:	n/a
25	chr15:42173869-42173919	H1-hESC	embryonic stem cell:	embryo
26	chr15:42178365-42178415	NB4	blood:	n/a
27	chr15:42178365-42178415	MCF10A-Er-Src	breast:	n/a
28	chr15:42185659-42185709	A549	lung:	n/a
29	chr15:42141147-42141197	NT2-D1	testis:	n/a
30	chr15:42174934-42174984	BE2_C	brain:	n/a
31	chr15:42174516-42174566	NH-A	brain:	n/a
32	chr15:42174823-42174873	U87	brain:	n/a
33	chr15:42130662-42130712	ProgFib	skin:	n/a
34	chr15:42185659-42185709	HMEC	breast:	n/a
35	chr15:42174516-42174566	GM12878	blood:	n/a
36	chr15:42170125-42170175	NHDF-neo	bronchial:	n/a
37	chr15:42154836-42154886	NT2-D1	testis:	n/a
38	chr15:42162712-42162762	HEK293	kidney:	embryo
39	chr15:42141147-42141197	HRCEpiC	kidney:	n/a
40	chr15:42130735-42130785	NH-A	brain:	n/a
41	chr15:42131658-42131708	NT2-D1	testis:	n/a
42	chr15:42174516-42174566	GM19239	blood:	n/a
43	chr15:42130735-42130785	SK-N-SH_RA	brain:	n/a
44	chr15:42130735-42130785	PFSK-1	brain:	n/a
45	chr15:42185659-42185709	HCM	heart:	n/a
46	chr15:42130662-42130712	A549	lung:	n/a
47	chr15:42185659-42185709	SK-N-MC	brain:	n/a
48	chr15:42174934-42174984	PrEC	prostate:	n/a
49	chr15:42131658-42131708	HAEpiC	amniotic membrane:	n/a
50	chr15:42186473-42186523	SKMC	muscle:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr15:42127281..42132563-chr15:42140689..42145219,5	K562	blood:
2	chr15:42169311..42172233-chr15:42179875..42182296,2	MCF-7	breast:
3	chr15:42113647..42116612-chr15:42164861..42166819,2	K562	blood:
4	chr15:42181594..42183460-chr15:42186970..42189193,2	K562	blood:
5	chr15:42129213..42131992-chr15:42145295..42147962,3	K562	blood:
6	chr15:42157479..42160214-chr15:42160930..42163117,2	MCF-7	breast:
7	chr15:42130359..42132534-chr15:42135770..42138086,2	K562	blood:
8	chr15:42143417..42146188-chr15:42158720..42160287,2	K562	blood:
9	chr15:42154642..42156337-chr15:42158761..42160269,2	K562	blood:
10	chr15:42136531..42140635-chr15:42140718..42144467,4	MCF-7	breast:
11	chr15:42139809..42142475-chr15:42153474..42155142,2	MCF-7	breast:
12	chr15:42158957..42162002-chr15:42162445..42164349,3	K562	blood:
13	chr15:42130359..42132534-chr15:42135770..42138086,2	K562	blood:
14	chr15:42151221..42156188-chr15:42156216..42158464,5	K562	blood:
15	chr15:42180442..42182824-chr15:42195792..42198246,2	K562	blood:
16	chr15:42136531..42140635-chr15:42140718..42144467,4	MCF-7	breast:
17	chr15:42126911..42129447-chr15:42131730..42134137,2	MCF-7	breast:
18	chr15:42165119..42167610-chr15:42168028..42170441,2	K562	blood:
19	chr15:42175250..42178134-chr15:42183992..42185929,2	K562	blood:
20	chr15:42138851..42142215-chr15:42154108..42157050,3	K562	blood:
21	chr15:42145763..42147692-chr15:42149451..42151046,2	K562	blood:
22	chr15:42146846..42149806-chr15:42162512..42164389,2	K562	blood:
23	chr15:42119178..42121855-chr15:42127765..42129934,4	K562	blood:
24	chr15:42143417..42146188-chr15:42158720..42160287,2	K562	blood:
25	chr15:42165119..42167610-chr15:42168028..42170441,2	K562	blood:
26	chr15:42161749..42164625-chr15:42167618..42170271,3	K562	blood:
27	chr15:42153612..42155605-chr15:42159642..42162019,2	MCF-7	breast:
28	chr15:42145763..42147692-chr15:42149451..42151046,2	K562	blood:
29	chr15:42116882..42118794-chr15:42146288..42147795,2	K562	blood:
30	chr15:42146846..42149806-chr15:42162512..42164389,2	K562	blood:
31	chr15:42065735..42068366-chr15:42158320..42160096,2	K562	blood:
32	chr15:42134555..42137354-chr15:42142923..42146121,3	K562	blood:
33	chr15:42147889..42150225-chr15:42151669..42154619,2	MCF-7	breast:
34	chr15:42139809..42142475-chr15:42153474..42155142,2	MCF-7	breast:
35	chr15:42150747..42152641-chr15:42159994..42161645,2	K562	blood:
36	chr15:42179476..42182408-chr15:42189392..42190926,2	K562	blood:
37	chr15:42130329..42131971-chr15:42170676..42172452,2	K562	blood:
38	chr15:42148784..42150939-chr15:42202289..42204151,2	MCF-7	breast:
39	chr15:42131596..42134313-chr15:42153487..42155658,3	K562	blood:
40	chr15:42119169..42123691-chr15:42124459..42130624,7	MCF-7	breast:
41	chr15:42126911..42129447-chr15:42131730..42134137,2	MCF-7	breast:
42	chr15:42158957..42162002-chr15:42162445..42164349,3	K562	blood:
43	chr15:42169351..42171668-chr15:42175525..42178438,2	K562	blood:
44	chr15:42157610..42159753-chr15:42169357..42171774,2	K562	blood:
45	chr15:42122872..42126047-chr15:42126791..42131021,4	K562	blood:
46	chr15:42148229..42150660-chr15:42156373..42159189,2	K562	blood:
47	chr15:42133144..42136683-chr15:42139373..42142777,4	K562	blood:
48	chr15:42131596..42134108-chr15:42153525..42155658,2	K562	blood:
49	chr15:42170088..42170778-chr15:42196301..42197330,4	K562	blood:
50	chr15:42128850..42133555-chr15:42135364..42139036,5	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-JMJD7-PLA2G4B-2	chr15:42185134-42186566	NONHSAT041977
2	lnc-EHD4-1	chr15:42142067-42142770	NONHSAT041973
3	lnc-JMJD7-PLA2G4B-2	chr15:42185242-42185276	NONHSAT041980
4	lnc-JMJD7-PLA2G4B-2	chr15:42184974-42185276	NONHSAT041976
5	lnc-EHD4-1	chr15:42140569-42140826	NONHSAT041973
6	lnc-JMJD7-PLA2G4B-2	chr15:42185255-42185276	NONHSAT041981
7	lnc-JMJD7-PLA2G4B-1	chr15:42184991-42187534	ENSG00000174171.3
8	lnc-JMJD7-PLA2G4B-2	chr15:42184987-42185019	NONHSAT041977
9	lnc-JMJD7-PLA2G4B-1	chr15:42184991-42185019	ENSG00000174171.3
10	lnc-JMJD7-PLA2G4B-2	chr15:42184991-42185019	ENSG00000174171.4

miRNA name	Chromosome Location	mirBase accession
hsa-miR-4310	chr15:42158703-42158718	MIMAT0016862

No data

Variant related genes	Relation type
PLA2G4B	TF binding region
JMJD7-PLA2G4B	TF binding region
MIR4310	TF binding region
SPTBN5	TF binding region
RNA5SP393	TF binding region
ENSG00000174171	TF binding region
PLA2G4B	CpG island
JMJD7-PLA2G4B	CpG island
MIR4310	CpG island
SPTBN5	CpG island
RNA5SP393	CpG island
ENSG00000174171	CpG island
ENSG00000272003	chromatin interactions
ENSG00000168970	chromatin interactions
ENSG00000264850	chromatin interactions
ENSG00000243789	chromatin interactions
ENSG00000137802	chromatin interactions
ENSG00000250379	chromatin interactions
ENSG00000200293	chromatin interactions
ENSG00000243708	chromatin interactions
ENSG00000174171	chromatin interactions
ENSG00000137877	chromatin interactions

Extended variants
information (count: 3453 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:3453 , 50 per page) page: 1 2 3 4 5 6 7 ... 70

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7166139	chr15:42128855-42128856	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs142456507	chr15:42128860-42128861	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs543681517	chr15:42128883-42128884	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs565922420	chr15:42128917-42128918	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs186974644	chr15:42128936-42128937	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs201529486	chr15:42128941-42128942	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs75353815	chr15:42128953-42128954	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs75529712	chr15:42128954-42128955	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs189920112	chr15:42128971-42128972	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs202203205	chr15:42128975-42128976	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs369174681	chr15:42128976-42128977	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs199865973	chr15:42128986-42128987	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs372559580	chr15:42129006-42129007	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs376080091	chr15:42129008-42129009	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs371510124	chr15:42129021-42129022	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs201190653	chr15:42129054-42129055	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs151336937	chr15:42129055-42129056	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs371110714	chr15:42129059-42129060	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs140543634	chr15:42129061-42129062	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs368105937	chr15:42129072-42129073	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs551244016	chr15:42129074-42129075	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs117869806	chr15:42129083-42129084	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs201884301	chr15:42129086-42129087	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs374425277	chr15:42129091-42129092	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs367560211	chr15:42129110-42129111	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs372828024	chr15:42129111-42129112	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs577520431	chr15:42129118-42129119	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs112826704	chr15:42129156-42129157	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs890505	chr15:42129158-42129159	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs34735204	chr15:42129161-42129162	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs7165230	chr15:42129168-42129169	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs558810927	chr15:42129175-42129176	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs890504	chr15:42129176-42129177	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs147096097	chr15:42129198-42129199	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs563596328	chr15:42129199-42129200	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs377310251	chr15:42129217-42129218	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs573601496	chr15:42129219-42129220	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs199862828	chr15:42129252-42129253	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs559140287	chr15:42129253-42129254	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs147725811	chr15:42129261-42129262	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs267604194	chr15:42129294-42129295	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs370600049	chr15:42129298-42129299	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs202082836	chr15:42129315-42129316	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs369105158	chr15:42129321-42129322	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs34665073	chr15:42129344-42129345	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs560529861	chr15:42129360-42129361	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs373067846	chr15:42129372-42129373	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs11547012	chr15:42129373-42129374	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs543365308	chr15:42129374-42129375	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs550306204	chr15:42129377-42129378	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
HDAC8	0	CNVD
NIPBL	0	CNVD
RAD21	0	CNVD
SMC1A	0	CNVD
SMC3	0	CNVD
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Angelman syndrome	16183798	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Testicular germ cell tumor	18059402	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16774939	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Cancer	21129771	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21045282	CNVD
Breast cancer	22032731	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Myelofibrosis	22110671	CNVD
Maculopathy	20981449	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1496 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42121000-42147400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr15:42121200-42130400	Weak transcription	Stomach Mucosa	stomach
3	chr15:42121400-42129400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr15:42121400-42130400	Weak transcription	Psoas Muscle	Psoas
5	chr15:42121400-42133800	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr15:42121400-42138200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr15:42121400-42138400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr15:42121400-42138400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr15:42121400-42138400	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr15:42121400-42138400	Weak transcription	Primary B cells from cord blood	blood
11	chr15:42121400-42147600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr15:42121400-42147600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr15:42121600-42130200	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr15:42121600-42134000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr15:42121600-42137200	Weak transcription	Osteobl	bone
16	chr15:42121600-42137400	Weak transcription	Small Intestine	intestine
17	chr15:42121600-42138600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr15:42121600-42141400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr15:42121600-42141800	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr15:42121800-42136600	Weak transcription	Brain Substantia Nigra	brain
21	chr15:42121800-42140400	Weak transcription	Hela-S3	cervix
22	chr15:42122000-42133000	Weak transcription	Colon Smooth Muscle	Colon
23	chr15:42122000-42142400	Strong transcription	Fetal Stomach	stomach
24	chr15:42122000-42142600	Strong transcription	Fetal Intestine Small	intestine
25	chr15:42122200-42130200	Weak transcription	Fetal Heart	heart
26	chr15:42122200-42145400	Weak transcription	HepG2	liver
27	chr15:42122400-42142600	Weak transcription	Fetal Brain Male	brain
28	chr15:42122800-42137200	Weak transcription	NHLF	lung
29	chr15:42123200-42130200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr15:42123400-42130800	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr15:42124200-42142400	Weak transcription	Primary hematopoietic stem cells	blood
32	chr15:42124400-42130400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr15:42124400-42138000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr15:42124800-42129000	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr15:42124800-42130600	Weak transcription	Placenta	Placenta
36	chr15:42124800-42132800	Weak transcription	Aorta	Aorta
37	chr15:42124800-42132800	Weak transcription	Fetal Lung	lung
38	chr15:42124800-42134000	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr15:42124800-42135600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr15:42124800-42136600	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr15:42124800-42137200	Weak transcription	Rectal Smooth Muscle	rectum
42	chr15:42125200-42129000	Weak transcription	Liver	Liver
43	chr15:42125200-42135000	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr15:42125400-42130600	Weak transcription	Left Ventricle	heart
45	chr15:42125400-42133800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr15:42125400-42136800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr15:42125400-42142200	Weak transcription	GM12878-XiMat	blood
48	chr15:42125600-42130400	Weak transcription	Colonic Mucosa	Colon
49	chr15:42125600-42133000	Weak transcription	Primary B cells from peripheral blood	blood
50	chr15:42125600-42134400	Weak transcription	Fetal Thymus	thymus

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