Variant report

Variant	nsv1002141
Chromosome Location	chr3:53858541-53934781
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2456)
CpG islands
(count:2811)
Chromatin interactive
region (count:74)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:3)

(count:2456 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:53875409-53875638	HepG2	liver:	n/a	n/a
2	ARID3A	chr3:53880305-53880971	HepG2	liver:	n/a	n/a
3	ARID3A	chr3:53876698-53878019	HepG2	liver:	n/a	chr3:53877014-53877030
4	ARID3A	chr3:53916095-53916159	K562	blood:	n/a	n/a
5	ARID3A	chr3:53915953-53916241	HepG2	liver:	n/a	n/a
6	ARID3A	chr3:53878608-53878939	HepG2	liver:	n/a	n/a
7	ARID3A	chr3:53925749-53926241	HepG2	liver:	n/a	n/a
8	ATF1	chr3:53925053-53926665	K562	blood:	n/a	n/a
9	ATF1	chr3:53885026-53885200	K562	blood:	n/a	n/a
10	ATF2	chr3:53925618-53926100	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF2	chr3:53915793-53916546	GM12878	blood:	n/a	n/a
12	ATF2	chr3:53925628-53926357	GM12878	blood:	n/a	n/a
13	ATF2	chr3:53919214-53919616	GM12878	blood:	n/a	n/a
14	ATF2	chr3:53925733-53926272	GM12878	blood:	n/a	n/a
15	ATF2	chr3:53919242-53919670	GM12878	blood:	n/a	n/a
16	ATF3	chr3:53925838-53926140	K562	blood:	n/a	n/a
17	BACH1	chr3:53876560-53877103	H1-hESC	embryonic stem cell:	n/a	n/a
18	BACH1	chr3:53925862-53926461	K562	blood:	n/a	n/a
19	BACH1	chr3:53915601-53915814	H1-hESC	embryonic stem cell:	n/a	n/a
20	BACH1	chr3:53925213-53925396	K562	blood:	n/a	n/a
21	BACH1	chr3:53925690-53926288	H1-hESC	embryonic stem cell:	n/a	n/a
22	BACH1	chr3:53879511-53879848	H1-hESC	embryonic stem cell:	n/a	n/a
23	BATF	chr3:53919318-53919618	GM12878	blood:	n/a	n/a
24	BCLAF1	chr3:53925463-53926403	GM12878	blood:	n/a	chr3:53925670-53925683 chr3:53925669-53925682
25	BCLAF1	chr3:53915471-53916369	GM12878	blood:	n/a	chr3:53915953-53915962
26	BCLAF1	chr3:53925490-53926439	GM12878	blood:	n/a	chr3:53925670-53925683 chr3:53925669-53925682
27	BCLAF1	chr3:53915553-53916509	GM12878	blood:	n/a	chr3:53915953-53915962
28	BHLHE40	chr3:53876853-53877464	GM12878	blood:	n/a	n/a
29	BHLHE40	chr3:53915640-53916724	GM12878	blood:	n/a	n/a
30	BHLHE40	chr3:53925718-53926400	GM12878	blood:	n/a	n/a
31	BHLHE40	chr3:53882631-53882725	GM12878	blood:	n/a	n/a
32	BHLHE40	chr3:53876815-53877169	HepG2	liver:	n/a	n/a
33	BHLHE40	chr3:53880315-53880471	A549	lung:	n/a	n/a
34	BHLHE40	chr3:53877854-53878245	GM12878	blood:	n/a	n/a
35	BHLHE40	chr3:53880154-53880774	HepG2	liver:	n/a	n/a
36	BHLHE40	chr3:53879719-53880817	GM12878	blood:	n/a	chr3:53880063-53880079
37	BHLHE40	chr3:53915760-53916144	K562	blood:	n/a	n/a
38	BHLHE40	chr3:53925528-53926286	K562	blood:	n/a	n/a
39	BHLHE40	chr3:53876633-53877763	HepG2	liver:	n/a	n/a
40	BHLHE40	chr3:53880224-53880527	K562	blood:	n/a	n/a
41	BHLHE40	chr3:53880178-53880482	HepG2	liver:	n/a	n/a
42	BRCA1	chr3:53876900-53877389	HepG2	liver:	n/a	n/a
43	BRCA1	chr3:53915766-53915868	H1-hESC	embryonic stem cell:	n/a	n/a
44	BRCA1	chr3:53925047-53925503	Hela-S3	cervix:	n/a	n/a
45	BRCA1	chr3:53925748-53926388	Hela-S3	cervix:	n/a	n/a
46	BRCA1	chr3:53925895-53926237	H1-hESC	embryonic stem cell:	n/a	n/a
47	BRCA1	chr3:53925601-53926262	HepG2	liver:	n/a	n/a
48	BRCA1	chr3:53915112-53915517	H1-hESC	embryonic stem cell:	n/a	n/a
49	BRCA1	chr3:53880497-53880762	HepG2	liver:	n/a	n/a
50	BRCA1	chr3:53879626-53879935	Hela-S3	cervix:	n/a	n/a

(count:2811 , 50 per page) page: 1 2 3 4 5 6 7 ... 57

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:53926056-53926106	K562	blood:	n/a
2	chr3:53926056-53926106	BJ	skin:	n/a
3	chr3:53879737-53879787	ProgFib	skin:	n/a
4	chr3:53925379-53925429	HNPCEpiC	eye:	n/a
5	chr3:53916982-53917032	PFSK-1	brain:	n/a
6	chr3:53926056-53926106	K562	blood:	n/a
7	chr3:53926056-53926106	BJ	skin:	n/a
8	chr3:53879737-53879787	ProgFib	skin:	n/a
9	chr3:53925379-53925429	HNPCEpiC	eye:	n/a
10	chr3:53916982-53917032	PFSK-1	brain:	n/a
11	chr3:53922675-53922725	Hepatocyte	liver:	n/a
12	chr3:53928807-53928857	ProgFib	skin:	n/a
13	chr3:53880853-53880903	AG04449	skin:	fetal
14	chr3:53879950-53880000	ProgFib	skin:	n/a
15	chr3:53916982-53917032	GM12878	blood:	n/a
16	chr3:53880366-53880416	MCF10A-Er-Src	breast:	n/a
17	chr3:53916291-53916341	A549	lung:	n/a
18	chr3:53925379-53925429	HEK293	kidney:	embryo
19	chr3:53880378-53880428	ECC-1	luminal epithelium:	n/a
20	chr3:53925587-53925637	HNPCEpiC	eye:	n/a
21	chr3:53925831-53925881	Hela-S3	cervix:	n/a
22	chr3:53925587-53925637	RPTEC	kidney:	n/a
23	chr3:53927033-53927083	HRPEpiC	eye:	n/a
24	chr3:53916412-53916462	LNCaP	prostate:	n/a
25	chr3:53926598-53926648	Jurkat	blood:	n/a
26	chr3:53879950-53880000	NHDF-neo	bronchial:	n/a
27	chr3:53925587-53925637	T-47D	breast:	n/a
28	chr3:53860720-53860770	Hela-S3	cervix:	n/a
29	chr3:53925912-53925962	HNPCEpiC	eye:	n/a
30	chr3:53926101-53926151	CMK	blood:	n/a
31	chr3:53883813-53883863	AoSMC	blood vessel:	n/a
32	chr3:53926284-53926334	RPTEC	kidney:	n/a
33	chr3:53915957-53916007	HL-60	blood:	n/a
34	chr3:53925231-53925281	HCT-116	colon:	n/a
35	chr3:53925912-53925962	MCF-7	breast:	n/a
36	chr3:53925831-53925881	BE2_C	brain:	n/a
37	chr3:53880376-53880426	HEK293	kidney:	embryo
38	chr3:53916015-53916065	GM19239	blood:	n/a
39	chr3:53925267-53925317	MCF10A-Er-Src	breast:	n/a
40	chr3:53925231-53925281	HRCEpiC	kidney:	n/a
41	chr3:53880775-53880825	SAEC	small airway:	n/a
42	chr3:53880378-53880428	HNPCEpiC	eye:	n/a
43	chr3:53926035-53926085	NT2-D1	testis:	n/a
44	chr3:53925912-53925962	SKMC	muscle:	n/a
45	chr3:53879950-53880000	AG10803	skin:	n/a
46	chr3:53925912-53925962	U87	brain:	n/a
47	chr3:53878642-53878692	PFSK-1	brain:	n/a
48	chr3:53880853-53880903	HCPEpiC	choroid plexus:	n/a
49	chr3:53877436-53877486	BE2_C	brain:	n/a
50	chr3:53925298-53925348	HEK293	kidney:	embryo

(count:74 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr3:53866511..53869792-chr3:53878002..53881981,4	MCF-7	breast:
2	chr3:53888852..53890407-chr3:53890829..53893730,2	K562	blood:
3	chr15:72410138..72410841-chr3:53925749..53926410,2	Hela-S3	cervix:
4	chr3:53906811..53909807-chr3:53917602..53920226,2	MCF-7	breast:
5	chr3:53880225..53881825-chr3:53914407..53917091,2	MCF-7	breast:
6	chr3:53914775..53921125-chr3:53923203..53927129,12	MCF-7	breast:
7	chr3:53909521..53911477-chr3:53924349..53927028,2	MCF-7	breast:
8	chr3:53871494..53874275-chr3:53875042..53877358,2	MCF-7	breast:
9	chr3:53925276..53928146-chr3:53932001..53933917,2	MCF-7	breast:
10	chr3:53889289..53890794-chr3:53913811..53916721,2	K562	blood:
11	chr3:53914533..53916130-chr3:53934096..53936406,2	K562	blood:
12	chr3:53930548..53932140-chr3:53934044..53936810,2	K562	blood:
13	chr3:53924684..53925501-chr7:135346877..135347648,2	NB4	blood:
14	chr3:53874952..53876547-chr3:53878295..53881175,2	K562	blood:
15	chr3:53901391..53905529-chr3:53913413..53917026,5	MCF-7	breast:
16	chr3:53866125..53868465-chr3:53874787..53877078,2	K562	blood:
17	chr3:53865722..53867529-chr3:53870209..53872321,2	MCF-7	breast:
18	chr3:53903830..53906738-chr3:53907491..53909258,2	MCF-7	breast:
19	chr3:53914775..53921125-chr3:53923203..53927129,12	MCF-7	breast:
20	chr20:30193754..30194579-chr3:53926417..53926984,2	Hela-S3	cervix:
21	chr3:53896764..53898507-chr3:53915639..53917989,2	K562	blood:
22	chr3:53909521..53911477-chr3:53924349..53927028,2	MCF-7	breast:
23	chr3:28282969..28283575-chr3:53879378..53880306,2	Hela-S3	cervix:
24	chr3:53288526..53291244-chr3:53879304..53881119,2	MCF-7	breast:
25	chr3:53930548..53932140-chr3:53934044..53936810,2	K562	blood:
26	chr15:34516727..34517701-chr3:53915643..53916154,2	Hela-S3	cervix:
27	chr3:53874777..53878635-chr3:53878874..53882397,7	MCF-7	breast:
28	chr3:53882268..53884684-chr3:53906455..53909246,2	MCF-7	breast:
29	chr3:53913333..53919757-chr3:53920203..53928086,26	K562	blood:
30	chr3:53901985..53904512-chr3:53906172..53908429,2	K562	blood:
31	chr3:53897345..53899772-chr3:53903994..53906102,2	K562	blood:
32	chr3:53906924..53910795-chr3:53914021..53916121,3	MCF-7	breast:
33	chr3:53888852..53890407-chr3:53890829..53893730,2	K562	blood:
34	chr3:53925062..53927052-chr3:53928716..53930712,2	K562	blood:
35	chr3:53913820..53918433-chr3:53924406..53927799,6	MCF-7	breast:
36	chr3:53879945..53880611-chr6:30028486..30029019,2	Hela-S3	cervix:
37	chr3:53906924..53910795-chr3:53914021..53916121,3	MCF-7	breast:
38	chr3:53914339..53916278-chr3:53921868..53924184,3	MCF-7	breast:
39	chr3:53859983..53863659-chr3:53876929..53880341,3	MCF-7	breast:
40	chr3:53882366..53883990-chr3:53889340..53891284,2	MCF-7	breast:
41	chr3:53889294..53893230-chr3:53913823..53917660,4	K562	blood:
42	chr3:53908420..53912131-chr3:53913956..53917012,3	MCF-7	breast:
43	chr3:53913820..53918433-chr3:53924406..53927799,6	MCF-7	breast:
44	chr3:53865722..53867529-chr3:53870209..53872321,2	MCF-7	breast:
45	chr11:76571922..76572822-chr3:53915731..53916676,2	Hela-S3	cervix:
46	chr3:53878629..53881188-chr3:53889615..53893181,4	MCF-7	breast:
47	chr3:53901985..53904512-chr3:53906172..53908429,2	K562	blood:
48	chr3:53866125..53868465-chr3:53874787..53877078,2	K562	blood:
49	chr3:53882366..53883990-chr3:53889340..53891284,2	MCF-7	breast:
50	chr3:53871494..53874275-chr3:53875042..53877358,2	MCF-7	breast:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ACTR8-1	chr3:53893021-53895603	ENSG00000271976.1
2	lnc-ACTR8-2	chr3:53924953-53925087	NONHSAT090009
3	lnc-ACTR8-2	chr3:53922422-53922510	NONHSAT090009
4	lnc-ACTR8-2	chr3:53925797-53925912	NONHSAT090009
5	lnc-ACTR8-1	chr3:53893020-53895603	NONHSAT090006
6	lnc-ACTR8-2	chr3:53922023-53922510	NONHSAT090008
7	lnc-ACTR8-2	chr3:53925797-53925882	NONHSAT090008
8	lnc-ACTR8-3	chr3:53868060-53870643	ncRnaDb_ncrna_FR081823_1

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location
1	ACTR8	hsa-miR-124-3p	chr3:53901411-53901405
2	ACTR8	hsa-miR-124-3p	chr3:53901405-53901424
3	IL17RB	hsa-miR-155-5p	chr3:53899480-53899502

Variant related genes	Relation type
ENSG00000271976	TF binding region
ENSG00000222888	TF binding region
ENSG00000113811	TF binding region
CHDH	TF binding region
ACTR8	TF binding region
IL17RB	TF binding region
ENSG00000271976	CpG island
ENSG00000222888	CpG island
ENSG00000113811	CpG island
CHDH	CpG island
ACTR8	CpG island
IL17RB	CpG island
ENSG00000113811	chromatin interactions
ENSG00000128463	chromatin interactions
ENSG00000099622	chromatin interactions
ENSG00000204623	chromatin interactions
ENSG00000066933	chromatin interactions
ENSG00000016391	chromatin interactions
ENSG00000013588	chromatin interactions
ENSG00000157388	chromatin interactions
ENSG00000151914	chromatin interactions
ENSG00000187118	chromatin interactions
ENSG00000271976	chromatin interactions
ENSG00000078124	chromatin interactions
ENSG00000222888	chromatin interactions
ENSG00000151917	chromatin interactions
ENSG00000243317	chromatin interactions
ENSG00000166192	chromatin interactions
ENSG00000163931	chromatin interactions
ENSG00000113812	chromatin interactions
ENSG00000056736	chromatin interactions

Extended variants
information (count: 3032 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:3032 , 50 per page) page: 1 2 3 4 5 6 7 ... 61

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7626693	chr3:53858541-53858542	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs566930258	chr3:53858592-53858593	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs534759797	chr3:53858646-53858647	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs190233469	chr3:53858721-53858722	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs555085158	chr3:53858759-53858760	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs565053933	chr3:53858761-53858762	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs112299317	chr3:53858786-53858787	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs568119523	chr3:53858810-53858811	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs149836132	chr3:53858812-53858813	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs532385382	chr3:53858832-53858833	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs556963519	chr3:53858849-53858850	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs577105304	chr3:53858872-53858873	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs144785113	chr3:53858965-53858966	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs62250931	chr3:53858986-53858987	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs530008951	chr3:53859002-53859003	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs368803332	chr3:53859013-53859014	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs80284398	chr3:53859020-53859021	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs114676124	chr3:53859027-53859028	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs575307847	chr3:53859057-53859058	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs544213039	chr3:53859127-53859128	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs532907796	chr3:53859130-53859131	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs564306288	chr3:53859133-53859134	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs144493187	chr3:53859164-53859165	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs72982054	chr3:53859177-53859178	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs560777713	chr3:53859212-53859213	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs529472664	chr3:53859306-53859307	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs373462649	chr3:53859308-53859309	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs568182249	chr3:53859312-53859313	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs530607928	chr3:53859411-53859412	Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs200448629	chr3:53859460-53859461	Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs182804331	chr3:53859508-53859509	Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs570349729	chr3:53859517-53859518	Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs9830723	chr3:53859524-53859525	Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs201190916	chr3:53859541-53859542	Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs368126029	chr3:53859542-53859543	Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs187155388	chr3:53859592-53859593	Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs566715224	chr3:53859653-53859654	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs77630681	chr3:53859654-53859655	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs6807783	chr3:53859662-53859663	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs575366094	chr3:53859728-53859729	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs550765560	chr3:53859729-53859730	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs544274947	chr3:53859775-53859776	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs114965217	chr3:53859837-53859838	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs376618738	chr3:53859848-53859849	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs141191705	chr3:53859919-53859920	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs9872403	chr3:53859924-53859925	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs191935059	chr3:53859937-53859938	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs151284321	chr3:53859938-53859939	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs111621234	chr3:53859963-53859964	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs541671180	chr3:53860009-53860010	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22032731	CNVD
Non-small cell lung cancer	20864512	CNVD
Colorectal cancer	16912164	CNVD
Non-small cell lung cancer	19010865	CNVD
Colorectal cancer	16272173	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	21785460	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Septo-optic dysplasia	21572526	CNVD
Biliary cancer	19435499	CNVD
Squamous cell cancer	20885788	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelofibrosis	22110671	CNVD
Urothelial cell carcinoma	18451213	CNVD
Ventriculomegaly	21325761	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Lung cancer	16618734	CNVD
Neuroblastoma	19686582	CNVD
Renal cell carcinoma	18765545	CNVD
Adrenocortical carcinoma	18281524	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21509527	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:2800 , 50 per page) page: 1 2 3 4 5 6 7 ... 56

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53839600-53876600	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr3:53846600-53879800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:53847000-53862000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr3:53849000-53858800	Strong transcription	Liver	Liver
5	chr3:53849000-53859200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr3:53849000-53866800	Weak transcription	Stomach Mucosa	stomach
7	chr3:53849600-53875400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr3:53850800-53858600	Strong transcription	Gastric	stomach
9	chr3:53852400-53865000	Weak transcription	Aorta	Aorta
10	chr3:53852400-53878200	Weak transcription	Hela-S3	cervix
11	chr3:53853000-53858800	Strong transcription	Cortex derived primary cultured neurospheres	brain
12	chr3:53853200-53867400	Weak transcription	Lung	lung
13	chr3:53853400-53877200	Weak transcription	Colonic Mucosa	Colon
14	chr3:53853600-53861800	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr3:53853600-53866800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr3:53853800-53879000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr3:53854000-53879400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr3:53854200-53871600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr3:53854200-53877400	Weak transcription	Esophagus	oesophagus
20	chr3:53854400-53873000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr3:53854400-53876400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr3:53854600-53859600	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr3:53854600-53862600	Weak transcription	Brain Anterior Caudate	brain
24	chr3:53854600-53866600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr3:53854600-53867400	Weak transcription	Spleen	Spleen
26	chr3:53854600-53873200	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr3:53855800-53862000	Weak transcription	Brain Substantia Nigra	brain
28	chr3:53856000-53858800	Strong transcription	HepG2	liver
29	chr3:53856200-53859000	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr3:53856200-53866000	Weak transcription	Brain Cingulate Gyrus	brain
31	chr3:53856600-53862200	Weak transcription	Brain Hippocampus Middle	brain
32	chr3:53856800-53879200	Weak transcription	Ovary	ovary
33	chr3:53857000-53862600	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr3:53857200-53863000	Weak transcription	Duodenum Mucosa	Duodenum
35	chr3:53857400-53876400	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr3:53857400-53876800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr3:53857800-53858600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr3:53857800-53858800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr3:53857800-53865000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr3:53858000-53858600	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr3:53858000-53859000	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr3:53858200-53858600	Enhancers	H1 Cell Line	embryonic stem cell
43	chr3:53858200-53858600	Enhancers	Placenta	Placenta
44	chr3:53858200-53858600	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr3:53858200-53859200	Genic enhancers	Fetal Intestine Small	intestine
46	chr3:53858200-53876400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr3:53858400-53859000	Enhancers	Pancreas	Pancrea
48	chr3:53858400-53859200	Enhancers	Fetal Stomach	stomach
49	chr3:53858400-53859400	Enhancers	Fetal Intestine Large	intestine
50	chr3:53858400-53873200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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