Variant report

Variant	nsv438026
Chromosome Location	chr1:151318733-151344703
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:917)
CpG islands
(count:794)
Chromatin interactive
region (count:114)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

(count:917 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:151319731-151320191	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:151319225-151319705	K562	blood:	n/a	n/a
3	ATF1	chr1:151319194-151320019	K562	blood:	n/a	n/a
4	ATF2	chr1:151318965-151320358	GM12878	blood:	n/a	n/a
5	ATF2	chr1:151319081-151319844	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr1:151319041-151320532	GM12878	blood:	n/a	n/a
7	ATF2	chr1:151318975-151319711	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF3	chr1:151319205-151319543	K562	blood:	n/a	n/a
9	BACH1	chr1:151319117-151319629	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr1:151319040-151319668	K562	blood:	n/a	n/a
11	BATF	chr1:151319715-151320119	GM12878	blood:	n/a	n/a
12	BATF	chr1:151319304-151320096	GM12878	blood:	n/a	n/a
13	BCL11A	chr1:151319369-151319495	H1-hESC	embryonic stem cell:	n/a	n/a
14	BCL3	chr1:151319419-151320197	A549	lung:	n/a	chr1:151319917-151319926 chr1:151319953-151319962
15	BCL3	chr1:151319215-151320071	GM12878	blood:	n/a	chr1:151319917-151319926 chr1:151319339-151319352 chr1:151319953-151319962
16	BCL3	chr1:151319300-151320242	A549	lung:	n/a	chr1:151319917-151319926 chr1:151319339-151319352 chr1:151319953-151319962
17	BCLAF1	chr1:151319024-151319797	GM12878	blood:	n/a	chr1:151319339-151319352
18	BCLAF1	chr1:151319064-151320339	GM12878	blood:	n/a	chr1:151319917-151319926 chr1:151319339-151319352 chr1:151319953-151319962
19	BHLHE40	chr1:151319161-151320330	K562	blood:	n/a	n/a
20	BHLHE40	chr1:151319168-151319964	A549	lung:	n/a	n/a
21	BHLHE40	chr1:151342372-151343265	K562	blood:	n/a	n/a
22	BHLHE40	chr1:151319424-151319748	HepG2	liver:	n/a	n/a
23	BHLHE40	chr1:151319205-151320261	GM12878	blood:	n/a	n/a
24	BHLHE40	chr1:151318759-151318799	GM12878	blood:	n/a	n/a
25	BHLHE40	chr1:151319236-151320299	HepG2	liver:	n/a	n/a
26	BRCA1	chr1:151319463-151319625	GM12878	blood:	n/a	n/a
27	BRCA1	chr1:151318710-151318742	H1-hESC	embryonic stem cell:	n/a	n/a
28	BRCA1	chr1:151320034-151320072	GM12878	blood:	n/a	n/a
29	BRCA1	chr1:151319042-151319738	H1-hESC	embryonic stem cell:	n/a	n/a
30	BRCA1	chr1:151319306-151320160	Hela-S3	cervix:	n/a	n/a
31	BRCA1	chr1:151318687-151318773	GM12878	blood:	n/a	n/a
32	CBX3	chr1:151323585-151323971	K562	blood:	n/a	n/a
33	CBX3	chr1:151319125-151320378	K562	blood:	n/a	n/a
34	CBX3	chr1:151334633-151335302	K562	blood:	n/a	n/a
35	CBX3	chr1:151323666-151323940	K562	blood:	n/a	n/a
36	CBX3	chr1:151324469-151325208	K562	blood:	n/a	n/a
37	CBX3	chr1:151324783-151325152	K562	blood:	n/a	n/a
38	CBX3	chr1:151342983-151343411	K562	blood:	n/a	n/a
39	CBX3	chr1:151334672-151335188	K562	blood:	n/a	n/a
40	CCNT2	chr1:151319257-151319934	K562	blood:	n/a	n/a
41	CCNT2	chr1:151343082-151343282	K562	blood:	n/a	n/a
42	CEBPB	chr1:151319135-151319380	K562	blood:	n/a	n/a
43	CEBPB	chr1:151319278-151320322	Hela-S3	cervix:	n/a	n/a
44	CEBPB	chr1:151328846-151328978	A549	lung:	n/a	chr1:151328890-151328901
45	CEBPB	chr1:151328788-151328993	K562	blood:	n/a	chr1:151328890-151328901
46	CEBPB	chr1:151322963-151323414	HepG2	liver:	n/a	n/a
47	CEBPB	chr1:151319672-151320024	A549	lung:	n/a	n/a
48	CEBPB	chr1:151323357-151323369	A549	lung:	n/a	n/a
49	CEBPB	chr1:151319729-151320078	K562	blood:	n/a	n/a
50	CEBPB	chr1:151343887-151344177	A549	lung:	n/a	n/a

(count:794 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:151336795-151336845	AG04450	lung:	fetal
2	chr1:151336795-151336845	AG04450	lung:	fetal
3	chr1:151323107-151323157	ProgFib	skin:	n/a
4	chr1:151319974-151320024	HCM	heart:	n/a
5	chr1:151343840-151343890	Hepatocyte	liver:	n/a
6	chr1:151320703-151320753	K562	blood:	n/a
7	chr1:151323107-151323157	SK-N-SH_RA	brain:	n/a
8	chr1:151320703-151320753	GM12891	blood:	n/a
9	chr1:151319801-151319851	HEEpiC	esophagus:	n/a
10	chr1:151319366-151319416	AoSMC	blood vessel:	n/a
11	chr1:151320034-151320084	Hepatocyte	liver:	n/a
12	chr1:151336795-151336845	HAEpiC	amniotic membrane:	n/a
13	chr1:151319801-151319851	NB4	blood:	n/a
14	chr1:151319974-151320024	HRE	kidney:	n/a
15	chr1:151319974-151320024	HCF	heart:	n/a
16	chr1:151343840-151343890	HMEC	breast:	n/a
17	chr1:151320034-151320084	SAEC	small airway:	n/a
18	chr1:151319366-151319416	AG09309	skin:	n/a
19	chr1:151323107-151323157	HPAEpiC	pulmonary alveolar:	n/a
20	chr1:151323107-151323157	HCT-116	colon:	n/a
21	chr1:151320117-151320167	AG09309	skin:	n/a
22	chr1:151343840-151343890	H1-hESC	embryonic stem cell:	embryo
23	chr1:151320117-151320167	BJ	skin:	n/a
24	chr1:151319801-151319851	Caco-2	colon:	n/a
25	chr1:151323107-151323157	HRE	kidney:	n/a
26	chr1:151319974-151320024	IMR90	lung:	fetal
27	chr1:151319801-151319851	IMR90	lung:	fetal
28	chr1:151319512-151319562	HNPCEpiC	eye:	n/a
29	chr1:151320703-151320753	HPAEpiC	pulmonary alveolar:	n/a
30	chr1:151319974-151320024	Hepatocyte	liver:	n/a
31	chr1:151320034-151320084	HRE	kidney:	n/a
32	chr1:151319872-151319922	MCF-7	breast:	n/a
33	chr1:151319366-151319416	A549	lung:	n/a
34	chr1:151319512-151319562	ECC-1	luminal epithelium:	n/a
35	chr1:151320034-151320084	ProgFib	skin:	n/a
36	chr1:151319538-151319588	HEK293	kidney:	embryo
37	chr1:151320703-151320753	HepG2	liver:	n/a
38	chr1:151343840-151343890	T-47D	breast:	n/a
39	chr1:151319782-151319832	T-47D	breast:	n/a
40	chr1:151319872-151319922	K562	blood:	n/a
41	chr1:151336795-151336845	Jurkat	blood:	n/a
42	chr1:151336795-151336845	K562	blood:	n/a
43	chr1:151319801-151319851	AG04449	skin:	fetal
44	chr1:151319872-151319922	Hela-S3	cervix:	n/a
45	chr1:151323107-151323157	GM12878	blood:	n/a
46	chr1:151319538-151319588	HPAEpiC	pulmonary alveolar:	n/a
47	chr1:151320034-151320084	PrEC	prostate:	n/a
48	chr1:151323107-151323157	AoSMC	blood vessel:	n/a
49	chr1:151320703-151320753	GM06990	blood:	n/a
50	chr1:151319538-151319588	HRPEpiC	eye:	n/a

(count:114 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr1:151311947..151315930-chr1:151341715..151344576,4	K562	blood:
2	chr1:151334136..151338213-chr1:151347669..151350682,3	MCF-7	breast:
3	chr1:151328228..151331162-chr1:151332669..151334329,2	MCF-7	breast:
4	chr1:151253402..151256437-chr1:151318501..151320102,3	MCF-7	breast:
5	chr1:151254095..151256385-chr1:151338386..151340753,2	K562	blood:
6	chr1:151317585..151319121-chr1:151341611..151344384,2	MCF-7	breast:
7	chr1:151337330..151339100-chr1:151341997..151344198,2	K562	blood:
8	chr1:151324405..151326399-chr1:151329640..151331142,2	MCF-7	breast:
9	chr1:151317711..151320188-chr1:151340050..151342553,3	K562	blood:
10	chr1:151322277..151325094-chr1:151343511..151345931,3	MCF-7	breast:
11	chr1:151296936..151300175-chr1:151320310..151322178,3	K562	blood:
12	chr1:151258574..151260250-chr1:151316879..151319085,2	MCF-7	breast:
13	chr1:151314289..151316701-chr1:151321408..151323324,2	MCF-7	breast:
14	chr1:151320017..151321943-chr1:151326948..151329539,3	MCF-7	breast:
15	chr1:151340916..151343487-chr1:151343853..151346001,2	MCF-7	breast:
16	chr1:151298650..151301104-chr1:151317671..151320176,4	MCF-7	breast:
17	chr1:151317375..151319614-chr1:151336795..151338993,2	K562	blood:
18	1:151254384-151268403..1:151324693-151329948	GM12878	blood:
19	chr1:151319339..151321545-chr17:56707745..56710309,2	MCF-7	breast:
20	chr1:151297227..151300315-chr1:151316951..151319680,4	K562	blood:
21	1:151171193-151178589..1:151333184-151350267	GM12878	blood:
22	chr1:151316826..151319751-chr1:151342092..151344070,3	MCF-7	breast:
23	chr1:151166423..151168363-chr1:151318010..151319809,2	MCF-7	breast:
24	chr1:151317711..151320188-chr1:151340050..151342553,3	K562	blood:
25	chr1:151319634..151321435-chr1:151323050..151325074,3	K562	blood:
26	chr1:151317585..151319121-chr1:151341611..151344384,2	MCF-7	breast:
27	1:151219411-151234038..1:151329948-151333184	Hela-S3	cervix:
28	chr1:151324405..151326399-chr1:151329640..151331142,2	MCF-7	breast:
29	chr1:151298277..151300050-chr1:151330058..151331618,2	MCF-7	breast:
30	chr1:151317349..151321032-chr1:151328064..151329975,4	K562	blood:
31	chr1:151319317..151320120-chr9:91925671..91926448,2	Hela-S3	cervix:
32	chr1:151343373..151350462-chr1:151369795..151376328,11	MCF-7	breast:
33	chr1:151318980..151319798-chr1:151371884..151372449,2	MCF-7	breast:
34	chr1:151335152..151338036-chr1:151343299..151345232,3	MCF-7	breast:
35	chr1:151326280..151328660-chr1:151369348..151372027,2	MCF-7	breast:
36	1:151270864-151283078..1:151324693-151329948	Hela-S3	cervix:
37	chr1:151326929..151328562-chr1:151341751..151343944,2	K562	blood:
38	chr1:151319574..151321193-chr1:151343801..151346115,3	MCF-7	breast:
39	chr1:151298409..151301460-chr1:151318358..151322178,4	K562	blood:
40	chr1:151340916..151343487-chr1:151343853..151346001,2	MCF-7	breast:
41	1:151333184-151350267..1:151592347-151603110	K562	blood:
42	chr1:151319574..151321193-chr1:151343801..151346115,3	MCF-7	breast:
43	chr1:151337004..151340652-chr1:151370807..151373608,3	MCF-7	breast:
44	chr1:151265006..151266786-chr1:151342988..151344589,2	MCF-7	breast:
45	1:151171193-151178589..1:151309061-151322694	Hela-S3	cervix:
46	chr1:151316826..151319751-chr1:151342092..151344070,3	MCF-7	breast:
47	chr1:151328228..151331162-chr1:151332669..151334329,2	MCF-7	breast:
48	1:151158061-151171193..1:151324693-151329948	GM12878	blood:
49	chr1:151341989..151348019-chr1:151370228..151376359,14	MCF-7	breast:
50	chr1:151340911..151342650-chr1:151344414..151346132,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PSMB4-1	chr1:151320108-151320503	ENSG00000237976.1
2	lnc-PSMB4-1	chr1:151319443-151319664	ENSG00000237976.1

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	SELENBP1	hsa-miR-335-5p	chr1:151336816-151336837
2	SELENBP1	hsa-miR-92a-3p	chr1:151336887-151336908

Variant related genes	Relation type
SELENBP1	TF binding region
RFX5	TF binding region
ENSG00000237976	TF binding region
SELENBP1	CpG island
RFX5	CpG island
ENSG00000237976	CpG island
ENSG00000143398	chromatin interactions
ENSG00000163141	chromatin interactions
ENSG00000143373	chromatin interactions
ENSG00000206635	chromatin interactions
ENSG00000143393	chromatin interactions
ENSG00000143390	chromatin interactions
ENSG00000223861	chromatin interactions
ENSG00000163159	chromatin interactions
ENSG00000143458	chromatin interactions
ENSG00000172725	chromatin interactions
ENSG00000123975	chromatin interactions
ENSG00000143376	chromatin interactions
ENSG00000143367	chromatin interactions
ENSG00000237976	chromatin interactions
ENSG00000232671	chromatin interactions
ENSG00000159352	chromatin interactions
ENSG00000143375	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000159377	chromatin interactions
ENSG00000224645	chromatin interactions
ENSG00000265753	chromatin interactions
ENSG00000252840	chromatin interactions
ENSG00000143442	chromatin interactions
ENSG00000207606	chromatin interactions
ENSG00000143416	chromatin interactions
ENSG00000273481	chromatin interactions

Extended variants
information (count: 1048 )
Associated
traits (count: 117 )

Variant overlapped rSNPs/rCNVs (count:1048 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2233843	chr1:151318733-151318734	Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs376672819	chr1:151318738-151318739	Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
3	rs548049340	chr1:151318741-151318742	Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
4	rs549403330	chr1:151318748-151318749	Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
5	rs569159154	chr1:151318753-151318754	Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
6	rs143245407	chr1:151318757-151318758	Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
7	rs200954660	chr1:151318799-151318800	Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
8	rs369084466	chr1:151318825-151318826	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
9	rs531852167	chr1:151318858-151318859	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
10	rs41270732	chr1:151318895-151318896	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs571486197	chr1:151318918-151318919	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
12	rs535881194	chr1:151318927-151318928	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
13	rs2233842	chr1:151318942-151318943	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs138110902	chr1:151319018-151319019	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
15	rs555635380	chr1:151319042-151319043	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
16	rs190371864	chr1:151319097-151319098	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
17	rs556085559	chr1:151319105-151319106	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
18	rs201668557	chr1:151319186-151319187	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
19	rs373950122	chr1:151319252-151319253	Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
20	rs143553826	chr1:151319256-151319257	Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
21	rs545294044	chr1:151319272-151319273	Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
22	rs558916576	chr1:151319311-151319312	Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
23	rs572251787	chr1:151319360-151319361	Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
24	rs541378839	chr1:151319375-151319376	Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
25	rs564546813	chr1:151319402-151319403	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
26	rs370775049	chr1:151319413-151319414	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
27	rs541267889	chr1:151319490-151319491	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
28	rs560379130	chr1:151319492-151319493	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
29	rs529339922	chr1:151319499-151319500	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
30	rs371985862	chr1:151319508-151319509	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
31	rs542763241	chr1:151319517-151319518	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
32	rs562872791	chr1:151319540-151319541	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
33	rs531625379	chr1:151319544-151319545	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
34	rs551643185	chr1:151319554-151319555	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
35	rs571648913	chr1:151319734-151319735	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
36	rs554244992	chr1:151319740-151319741	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
37	rs547925405	chr1:151319789-151319790	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
38	rs567775446	chr1:151319836-151319837	Active TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
39	rs2233841	chr1:151319869-151319870	Active TSS	TF binding region Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs559871358	chr1:151319940-151319941	Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
41	rs549631090	chr1:151319955-151319956	Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
42	rs569645039	chr1:151319990-151319991	Active TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
43	rs538669195	chr1:151320087-151320088	Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
44	rs558881654	chr1:151320092-151320093	Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
45	rs182180373	chr1:151320104-151320105	Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
46	rs36231134	chr1:151320165-151320166	Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
47	rs2233840	chr1:151320179-151320180	Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
48	rs574569705	chr1:151320243-151320244	Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
49	rs190891969	chr1:151320250-151320251	Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
50	rs562875765	chr1:151320259-151320260	Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:117)

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
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
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	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
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Gastrointestinal cancer	16790693	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:1066 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151313400-151318800	Weak transcription	HSMMtube	muscle
2	chr1:151313800-151318800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr1:151313800-151319000	Weak transcription	Psoas Muscle	Psoas
4	chr1:151316400-151318800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:151316400-151319000	Weak transcription	Left Ventricle	heart
6	chr1:151317000-151319000	Weak transcription	Right Ventricle	heart
7	chr1:151317200-151318800	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr1:151317200-151319200	Weak transcription	Small Intestine	intestine
9	chr1:151317800-151319200	Weak transcription	Ovary	ovary
10	chr1:151318200-151318800	Transcr. at gene 5' and 3'	H1 Cell Line	embryonic stem cell
11	chr1:151318200-151318800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:151318200-151318800	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr1:151318200-151318800	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
14	chr1:151318200-151318800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr1:151318200-151318800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr1:151318200-151318800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:151318200-151318800	Transcr. at gene 5' and 3'	Primary B cells from cord blood	blood
18	chr1:151318200-151318800	Transcr. at gene 5' and 3'	Primary B cells from peripheral blood	blood
19	chr1:151318200-151318800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr1:151318200-151318800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:151318200-151318800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:151318200-151318800	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
23	chr1:151318200-151318800	Enhancers	Brain Angular Gyrus	brain
24	chr1:151318200-151318800	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr1:151318200-151318800	Transcr. at gene 5' and 3'	Fetal Kidney	kidney
26	chr1:151318200-151318800	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
27	chr1:151318200-151318800	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr1:151318200-151318800	Enhancers	Right Atrium	heart
29	chr1:151318200-151318800	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
30	chr1:151318200-151318800	Genic enhancers	Spleen	Spleen
31	chr1:151318200-151318800	Transcr. at gene 5' and 3'	Dnd41	blood
32	chr1:151318200-151318800	Transcr. at gene 5' and 3'	Hela-S3	cervix
33	chr1:151318200-151319000	Flanking Active TSS	Brain Germinal Matrix	brain
34	chr1:151318200-151319200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
35	chr1:151318200-151319200	Enhancers	Fetal Heart	heart
36	chr1:151318200-151319200	Flanking Active TSS	HUVEC	blood vessel
37	chr1:151318200-151319400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
38	chr1:151318400-151318800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr1:151318400-151318800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr1:151318400-151318800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr1:151318400-151318800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr1:151318400-151318800	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
43	chr1:151318400-151318800	Transcr. at gene 5' and 3'	Fetal Lung	lung
44	chr1:151318400-151318800	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
45	chr1:151318400-151318800	Enhancers	Gastric	stomach
46	chr1:151318400-151318800	Transcr. at gene 5' and 3'	Rectal Smooth Muscle	rectum
47	chr1:151318400-151318800	Transcr. at gene 5' and 3'	A549	lung
48	chr1:151318400-151319000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr1:151318400-151319000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr1:151318400-151319000	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood

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