Variant report

Variant	nsv521098
Chromosome Location	chr3:142411200-142503605
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	ARID3A	chr3:142425567-142425682	K562	blood:	n/a	n/a
2	ARID3A	chr3:142494791-142494793	K562	blood:	n/a	n/a
3	ARID3A	chr3:142466391-142466458	K562	blood:	n/a	n/a
4	ARID3A	chr3:142443033-142443151	HepG2	liver:	n/a	n/a
5	ATF1	chr3:142467925-142468107	K562	blood:	n/a	n/a
6	ATF1	chr3:142442758-142443069	K562	blood:	n/a	n/a
7	ATF1	chr3:142447949-142448087	K562	blood:	n/a	n/a
8	ATF2	chr3:142443272-142443963	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr3:142442767-142443178	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF2	chr3:142443281-142444155	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF3	chr3:142442799-142442989	K562	blood:	n/a	n/a
12	BACH1	chr3:142462043-142462140	H1-hESC	embryonic stem cell:	n/a	n/a
13	BCL3	chr3:142443209-142444129	A549	lung:	n/a	n/a
14	BCL3	chr3:142443190-142443838	A549	lung:	n/a	n/a
15	BHLHE40	chr3:142442896-142443584	K562	blood:	n/a	chr3:142443066-142443082 chr3:142443037-142443053
16	BHLHE40	chr3:142442854-142443156	GM12878	blood:	n/a	chr3:142443066-142443082 chr3:142443037-142443053
17	BRCA1	chr3:142429046-142429051	GM12878	blood:	n/a	n/a
18	BRCA1	chr3:142460452-142460511	H1-hESC	embryonic stem cell:	n/a	n/a
19	BRCA1	chr3:142443003-142443048	HepG2	liver:	n/a	n/a
20	BRCA1	chr3:142443399-142443727	HepG2	liver:	n/a	n/a
21	CBX3	chr3:142443315-142443878	K562	blood:	n/a	n/a
22	CCNT2	chr3:142442758-142443983	K562	blood:	n/a	chr3:142443848-142443857 chr3:142443341-142443350 chr3:142443329-142443338 chr3:142443361-142443370 chr3:142443335-142443344
23	CEBPB	chr3:142425154-142425534	ECC-1	luminal epithelium:	n/a	chr3:142425339-142425348 chr3:142425339-142425348 chr3:142425338-142425349 chr3:142425339-142425348 chr3:142425339-142425348 chr3:142425336-142425353
24	CEBPB	chr3:142433813-142434102	Hela-S3	cervix:	n/a	chr3:142433940-142433951
25	CEBPB	chr3:142425075-142425623	MCF-7	breast:	n/a	chr3:142425339-142425348 chr3:142425339-142425348 chr3:142425338-142425349 chr3:142425339-142425348 chr3:142425339-142425348 chr3:142425336-142425353
26	CEBPB	chr3:142433806-142434099	A549	lung:	n/a	chr3:142433940-142433951
27	CEBPB	chr3:142457361-142457495	HepG2	liver:	n/a	n/a
28	CEBPB	chr3:142425146-142425690	K562	blood:	n/a	chr3:142425339-142425348 chr3:142425339-142425348 chr3:142425338-142425349 chr3:142425339-142425348 chr3:142425339-142425348 chr3:142425336-142425353
29	CEBPB	chr3:142442939-142443087	H1-hESC	embryonic stem cell:	n/a	n/a
30	CEBPB	chr3:142412545-142412743	HepG2	liver:	n/a	chr3:142412655-142412666
31	CEBPB	chr3:142425156-142425582	HepG2	liver:	n/a	chr3:142425339-142425348 chr3:142425339-142425348 chr3:142425338-142425349 chr3:142425339-142425348 chr3:142425339-142425348 chr3:142425336-142425353
32	CEBPB	chr3:142431952-142432289	K562	blood:	n/a	chr3:142432124-142432135
33	CEBPB	chr3:142433848-142434125	MCF-7	breast:	n/a	chr3:142433940-142433951
34	CEBPB	chr3:142432010-142432283	K562	blood:	n/a	chr3:142432124-142432135
35	CEBPB	chr3:142431962-142432270	HepG2	liver:	n/a	chr3:142432124-142432135
36	CEBPB	chr3:142431954-142432215	MCF-7	breast:	n/a	chr3:142432124-142432135
37	CEBPB	chr3:142489815-142489827	A549	lung:	n/a	n/a
38	CEBPB	chr3:142425208-142425509	HepG2	liver:	n/a	chr3:142425339-142425348 chr3:142425339-142425348 chr3:142425338-142425349 chr3:142425339-142425348 chr3:142425339-142425348 chr3:142425336-142425353
39	CEBPB	chr3:142425237-142425393	HepG2	liver:	n/a	chr3:142425339-142425348 chr3:142425339-142425348 chr3:142425338-142425349 chr3:142425339-142425348 chr3:142425339-142425348 chr3:142425336-142425353
40	CEBPB	chr3:142425132-142425596	A549	lung:	n/a	chr3:142425339-142425348 chr3:142425339-142425348 chr3:142425338-142425349 chr3:142425339-142425348 chr3:142425339-142425348 chr3:142425336-142425353
41	CEBPB	chr3:142425153-142425635	IMR90	lung:	n/a	chr3:142425339-142425348 chr3:142425339-142425348 chr3:142425338-142425349 chr3:142425339-142425348 chr3:142425339-142425348 chr3:142425336-142425353
42	CEBPB	chr3:142425159-142425637	Hela-S3	cervix:	n/a	chr3:142425339-142425348 chr3:142425339-142425348 chr3:142425338-142425349 chr3:142425339-142425348 chr3:142425339-142425348 chr3:142425336-142425353
43	CEBPB	chr3:142431983-142432252	A549	lung:	n/a	chr3:142432124-142432135
44	CEBPB	chr3:142425151-142425704	A549	lung:	n/a	chr3:142425339-142425348 chr3:142425339-142425348 chr3:142425338-142425349 chr3:142425339-142425348 chr3:142425339-142425348 chr3:142425336-142425353
45	CEBPB	chr3:142425157-142425594	H1-hESC	embryonic stem cell:	n/a	chr3:142425339-142425348 chr3:142425339-142425348 chr3:142425338-142425349 chr3:142425339-142425348 chr3:142425339-142425348 chr3:142425336-142425353
46	CEBPB	chr3:142450599-142450715	IMR90	lung:	n/a	n/a
47	CEBPB	chr3:142433793-142434117	K562	blood:	n/a	chr3:142433940-142433951
48	CEBPB	chr3:142424987-142425706	A549	lung:	n/a	chr3:142425339-142425348 chr3:142425339-142425348 chr3:142425338-142425349 chr3:142425339-142425348 chr3:142425339-142425348 chr3:142425336-142425353
49	CEBPB	chr3:142431997-142432245	Hela-S3	cervix:	n/a	chr3:142432124-142432135
50	CEBPB	chr3:142432026-142432197	H1-hESC	embryonic stem cell:	n/a	chr3:142432124-142432135

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:142443340-142443390	HepG2	liver:	n/a
2	chr3:142442934-142442984	PANC-1	pancreas:	n/a
3	chr3:142443837-142443887	HIPEpiC	eye:	n/a
4	chr3:142444202-142444252	BE2_C	brain:	n/a
5	chr3:142443837-142443887	PFSK-1	brain:	n/a
6	chr3:142442915-142442965	GM19239	blood:	n/a
7	chr3:142443340-142443390	K562	blood:	n/a
8	chr3:142444202-142444252	MCF10A-Er-Src	breast:	n/a
9	chr3:142441654-142441704	HCT-116	colon:	n/a
10	chr3:142443266-142443316	Caco-2	colon:	n/a
11	chr3:142440284-142440334	ovcar-3	ovarian:	n/a
12	chr3:142443340-142443390	NB4	blood:	n/a
13	chr3:142443837-142443887	H1-hESC	embryonic stem cell:	embryo
14	chr3:142443340-142443390	Jurkat	blood:	n/a
15	chr3:142443257-142443307	ECC-1	luminal epithelium:	n/a
16	chr3:142451487-142451537	AG04450	lung:	fetal
17	chr3:142442934-142442984	SAEC	small airway:	n/a
18	chr3:142443933-142443983	NHDF-neo	bronchial:	n/a
19	chr3:142444202-142444252	HEK293	kidney:	embryo
20	chr3:142451487-142451537	ECC-1	luminal epithelium:	n/a
21	chr3:142443247-142443297	GM12891	blood:	n/a
22	chr3:142444202-142444252	PrEC	prostate:	n/a
23	chr3:142443247-142443297	AG09319	gingival:	n/a
24	chr3:142468059-142468109	NH-A	brain:	n/a
25	chr3:142442915-142442965	NB4	blood:	n/a
26	chr3:142451487-142451537	HRPEpiC	eye:	n/a
27	chr3:142442711-142442761	LNCaP	prostate:	n/a
28	chr3:142443247-142443297	HRPEpiC	eye:	n/a
29	chr3:142442934-142442984	Caco-2	colon:	n/a
30	chr3:142451487-142451537	GM12892	blood:	n/a
31	chr3:142443257-142443307	RPTEC	kidney:	n/a
32	chr3:142442934-142442984	GM12878	blood:	n/a
33	chr3:142443837-142443887	GM12891	blood:	n/a
34	chr3:142442711-142442761	HRPEpiC	eye:	n/a
35	chr3:142442915-142442965	MCF10A-Er-Src	breast:	n/a
36	chr3:142443257-142443307	HNPCEpiC	eye:	n/a
37	chr3:142443247-142443297	NHDF-neo	bronchial:	n/a
38	chr3:142443837-142443887	NT2-D1	testis:	n/a
39	chr3:142442934-142442984	SK-N-SH_RA	brain:	n/a
40	chr3:142443257-142443307	IMR90	lung:	fetal
41	chr3:142451487-142451537	NH-A	brain:	n/a
42	chr3:142443340-142443390	ProgFib	skin:	n/a
43	chr3:142443933-142443983	HL-60	blood:	n/a
44	chr3:142443340-142443390	Caco-2	colon:	n/a
45	chr3:142468059-142468109	HepG2	liver:	n/a
46	chr3:142443247-142443297	NH-A	brain:	n/a
47	chr3:142444202-142444252	MCF-7	breast:	n/a
48	chr3:142447949-142447999	PANC-1	pancreas:	n/a
49	chr3:142444202-142444252	CMK	blood:	n/a
50	chr3:142468059-142468109	HRPEpiC	eye:	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:142442891..142443401-chr9:140082899..140083506,2	Hela-S3	cervix:
2	chr3:142449190..142450946-chr3:142453466..142455123,2	K562	blood:
3	chr3:142460206..142461929-chr3:142462175..142464545,2	MCF-7	breast:
4	chr3:142474712..142477254-chr3:142505896..142507567,2	K562	blood:
5	chr3:142446534..142448201-chr3:142464004..142466912,2	K562	blood:
6	chr3:142499960..142502376-chr3:142502794..142505025,2	MCF-7	breast:
7	chr3:142454595..142457546-chr3:142458200..142461358,5	K562	blood:
8	chr3:142454807..142457624-chr3:142465481..142467618,2	K562	blood:
9	chr3:142454807..142457624-chr3:142465481..142467618,2	K562	blood:
10	chr3:142446381..142451042-chr3:142452461..142456745,6	MCF-7	breast:
11	chr3:142429711..142432436-chr3:142449677..142451639,2	K562	blood:
12	chr3:142424535..142426937-chr3:142428970..142431535,2	MCF-7	breast:
13	chr3:142437025..142440945-chr3:142442939..142444971,3	K562	blood:
14	chr3:142440764..142447351-chr3:142447876..142453458,13	K562	blood:
15	chr3:142313378..142316741-chr3:142442748..142446550,8	K562	blood:
16	chr3:142428329..142432117-chr3:142439414..142444140,4	K562	blood:
17	chr3:142296183..142297738-chr3:142420382..142423337,2	K562	blood:
18	chr3:142468908..142470410-chr3:142472002..142473779,2	K562	blood:
19	chr3:142409223..142411101-chr3:142411877..142413945,2	MCF-7	breast:
20	chr3:142313766..142316499-chr3:142498136..142500635,2	K562	blood:
21	chr3:142443512..142446497-chr3:142575988..142578278,2	K562	blood:
22	chr3:142407159..142409366-chr3:142410995..142412632,2	K562	blood:
23	chr3:142428790..142430856-chr3:142431649..142434549,3	K562	blood:
24	chr3:142443679..142445893-chr3:142461230..142463554,2	K562	blood:
25	chr3:142424535..142426937-chr3:142428970..142431535,2	MCF-7	breast:
26	chr3:142460206..142461929-chr3:142462175..142464545,2	MCF-7	breast:
27	chr3:142296287..142298547-chr3:142424525..142428027,3	MCF-7	breast:
28	chr3:142442816..142444880-chr3:142445046..142446610,2	K562	blood:
29	chr3:142502229..142505111-chr3:142507605..142510534,2	K562	blood:
30	chr3:142446534..142448201-chr3:142464004..142466912,2	K562	blood:
31	chr3:142450124..142452703-chr3:142455616..142457885,2	K562	blood:
32	chr3:142454595..142457546-chr3:142458200..142461358,5	K562	blood:
33	chr3:142451473..142453239-chr3:142462365..142465302,2	K562	blood:
34	chr3:142451473..142453239-chr3:142462365..142465302,2	K562	blood:
35	chr3:142443679..142445893-chr3:142461230..142463554,2	K562	blood:
36	chr3:142295996..142297624-chr3:142440935..142443594,2	K562	blood:
37	chr3:142415071..142417481-chr3:142424230..142426565,2	K562	blood:
38	chr3:142497944..142499699-chr3:142505755..142508008,3	K562	blood:
39	chr3:142468908..142470410-chr3:142472002..142473779,2	K562	blood:
40	chr3:142446523..142449403-chr3:142504963..142507235,2	K562	blood:
41	chr3:142295544..142297726-chr3:142454220..142455765,2	K562	blood:
42	chr3:142406757..142409120-chr3:142430146..142432292,2	K562	blood:
43	chr3:142446381..142451042-chr3:142452461..142456745,6	MCF-7	breast:
44	chr3:142296594..142299227-chr3:142445379..142447905,3	K562	blood:
45	chr3:142313784..142316353-chr3:142491833..142494819,2	MCF-7	breast:
46	chr3:142418554..142422462-chr3:142423148..142426338,3	K562	blood:
47	chr3:142418554..142422462-chr3:142423148..142426338,3	K562	blood:
48	chr3:142501247..142502889-chr3:142505144..142507230,2	MCF-7	breast:
49	chr3:142312229..142317018-chr3:142442889..142445391,9	K562	blood:
50	chr3:142297625..142299268-chr3:142441632..142444151,3	K562	blood:

No.	miRNA target gene	miRNA name	Chromosome Location
1	PLS1	hsa-miR-26b-5p	chr3:142431459-142431480
2	PLS1	hsa-miR-186-5p	chr3:142431140-142431146
3	PLS1	hsa-miR-186-5p	chr3:142431124-142431147
4	PLS1	hsa-miR-17-5p	chr3:142432431-142432452
5	PLS1	hsa-miR-186-5p	chr3:142431383-142431405
6	PLS1	hsa-miR-17-5p	chr3:142432445-142432452
7	PLS1	hsa-miR-155-5p	chr3:142432026-142432047
8	PLS1	hsa-miR-106b-5p	chr3:142432433-142432452
9	PLS1	hsa-miR-320a	chr3:142431586-142431606
10	PLS1	hsa-miR-106b-5p	chr3:142432445-142432452
11	PLS1	hsa-miR-320a	chr3:142431493-142431514
12	PLS1	hsa-miR-320a	chr3:142431429-142431450

Variant related genes	Relation type
TRPC1	TF binding region
TRPC1	CpG island
ENSG00000120756	chromatin interactions
ENSG00000268129	chromatin interactions
ENSG00000163714	chromatin interactions
ENSG00000176248	chromatin interactions
ENSG00000110200	chromatin interactions
ENSG00000144935	chromatin interactions
ENSG00000176101	chromatin interactions
ENSG00000175054	chromatin interactions

Extended variants
information (count: 2955 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:2955 , 50 per page) page: 1 2 3 4 5 6 7 ... 60

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11929107	chr3:142411200-142411201	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs76760735	chr3:142411216-142411217	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs542116536	chr3:142411230-142411231	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs144572937	chr3:142411262-142411263	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs9823492	chr3:142411287-142411288	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs546383723	chr3:142411296-142411297	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs375520176	chr3:142411389-142411390	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs564398950	chr3:142411448-142411449	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs569792392	chr3:142411570-142411571	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs182369876	chr3:142411595-142411596	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs537209567	chr3:142411680-142411681	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs550334304	chr3:142411682-142411683	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs142481972	chr3:142411701-142411702	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs186150138	chr3:142411702-142411703	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs190956560	chr3:142411703-142411704	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs548460913	chr3:142411720-142411721	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs144705077	chr3:142411735-142411736	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs76380004	chr3:142411796-142411797	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs111985583	chr3:142411825-142411826	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs567378577	chr3:142411838-142411839	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs531221640	chr3:142411843-142411844	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs552364780	chr3:142411881-142411882	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs373115673	chr3:142411950-142411951	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs570588127	chr3:142412057-142412058	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs34435358	chr3:142412097-142412098	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs112976286	chr3:142412105-142412106	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs555887462	chr3:142412121-142412122	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs574085882	chr3:142412153-142412154	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs535090674	chr3:142412211-142412212	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs1916638	chr3:142412224-142412225	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs572723246	chr3:142412238-142412239	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs148532227	chr3:142412297-142412298	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs564688397	chr3:142412329-142412330	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs142889839	chr3:142412340-142412341	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs151084722	chr3:142412416-142412417	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs75850757	chr3:142412431-142412432	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs141336658	chr3:142412444-142412445	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs377055471	chr3:142412506-142412507	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs187236709	chr3:142412577-142412578	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs560153216	chr3:142412590-142412591	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs190137031	chr3:142412634-142412635	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373472743	chr3:142412650-142412651	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs142794618	chr3:142412651-142412652	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552216064	chr3:142412670-142412671	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577927978	chr3:142412729-142412730	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570624271	chr3:142412899-142412900	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541499517	chr3:142412925-142412926	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs10598043	chr3:142412962-142412963	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs398091859	chr3:142412964-142412965	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs202107029	chr3:142412965-142412966	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
microdeletion syndrome	22180640	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
abnormal development	18461090	CNVD
Cancer	21129771	CNVD
Ovarian cancer	23621864	CNVD
Breast cancer	21364760	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:878 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142366000-142435400	Weak transcription	Colonic Mucosa	Colon
2	chr3:142379200-142413000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:142384400-142411400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr3:142385800-142415400	Weak transcription	A549	lung
5	chr3:142386400-142411800	Weak transcription	NHEK	skin
6	chr3:142387400-142413400	Weak transcription	Stomach Mucosa	stomach
7	chr3:142389200-142412400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr3:142389200-142414800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr3:142389800-142442400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr3:142392800-142418000	Weak transcription	HepG2	liver
11	chr3:142392800-142425400	Weak transcription	Dnd41	blood
12	chr3:142392800-142433000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr3:142393000-142426000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr3:142393400-142426200	Weak transcription	Primary hematopoietic stem cells	blood
15	chr3:142403000-142412800	Strong transcription	Rectal Mucosa Donor 31	rectum
16	chr3:142404200-142418000	Weak transcription	HMEC	breast
17	chr3:142404600-142416200	Weak transcription	Fetal Intestine Small	intestine
18	chr3:142405800-142411600	Weak transcription	Fetal Intestine Large	intestine
19	chr3:142407200-142417000	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr3:142408800-142412000	Weak transcription	Duodenum Mucosa	Duodenum
21	chr3:142408800-142430400	Weak transcription	Liver	Liver
22	chr3:142410600-142412200	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr3:142411800-142413600	Enhancers	NHEK	skin
24	chr3:142412000-142413200	Strong transcription	Duodenum Mucosa	Duodenum
25	chr3:142412200-142412800	Enhancers	Fetal Heart	heart
26	chr3:142412200-142412800	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr3:142412400-142413400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr3:142412400-142413400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr3:142412800-142416600	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr3:142412800-142426600	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr3:142413000-142413400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr3:142413200-142422600	Weak transcription	Duodenum Mucosa	Duodenum
33	chr3:142416600-142417800	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr3:142417800-142424200	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr3:142422600-142424600	Strong transcription	Duodenum Mucosa	Duodenum
36	chr3:142424000-142425200	Enhancers	Fetal Lung	lung
37	chr3:142424200-142424600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr3:142424200-142427000	Strong transcription	Rectal Mucosa Donor 31	rectum
39	chr3:142424600-142430200	Weak transcription	Duodenum Mucosa	Duodenum
40	chr3:142425200-142425800	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr3:142425200-142426000	Enhancers	K562	blood
42	chr3:142425800-142431000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr3:142426200-142435000	Weak transcription	Fetal Intestine Large	intestine
44	chr3:142426400-142427000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr3:142426600-142427000	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr3:142427000-142430600	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr3:142427000-142430600	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr3:142429400-142442400	Weak transcription	NH-A	brain
49	chr3:142429600-142442200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr3:142430200-142431600	Strong transcription	Duodenum Mucosa	Duodenum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links