Variant report

Variant	nsv517472
Chromosome Location	chr2:20814583-20855176
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2226)
CpG islands
(count:1161)
Chromatin interactive
region (count:166)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:2226 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:20835525-20835887	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:20842189-20842383	HepG2	liver:	n/a	n/a
3	ARID3A	chr2:20850718-20851087	HepG2	liver:	n/a	n/a
4	ARID3A	chr2:20842333-20842335	K562	blood:	n/a	n/a
5	ARID3A	chr2:20817731-20817968	HepG2	liver:	n/a	n/a
6	ARID3A	chr2:20815385-20815627	HepG2	liver:	n/a	n/a
7	ARID3A	chr2:20825498-20825713	HepG2	liver:	n/a	n/a
8	ARID3A	chr2:20835632-20835818	K562	blood:	n/a	n/a
9	ATF2	chr2:20814240-20814744	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF2	chr2:20850627-20851175	GM12878	blood:	n/a	n/a
11	ATF3	chr2:20850640-20851235	A549	lung:	n/a	chr2:20850771-20850780
12	ATF3	chr2:20850729-20850982	GM12878	blood:	n/a	chr2:20850771-20850780
13	ATF3	chr2:20850661-20851041	K562	blood:	n/a	chr2:20850771-20850780
14	ATF3	chr2:20850631-20851115	HepG2	liver:	n/a	chr2:20850771-20850780
15	ATF3	chr2:20850562-20851172	A549	lung:	n/a	chr2:20850771-20850780
16	ATF3	chr2:20850651-20851036	H1-hESC	embryonic stem cell:	n/a	chr2:20850771-20850780
17	BACH1	chr2:20851182-20851308	H1-hESC	embryonic stem cell:	n/a	n/a
18	BACH1	chr2:20814404-20814683	H1-hESC	embryonic stem cell:	n/a	n/a
19	BATF	chr2:20842196-20842426	GM12878	blood:	n/a	n/a
20	BCL3	chr2:20850595-20851345	A549	lung:	n/a	n/a
21	BCLAF1	chr2:20850635-20851182	GM12878	blood:	n/a	n/a
22	BCLAF1	chr2:20842083-20842539	GM12878	blood:	n/a	n/a
23	BHLHE40	chr2:20816978-20817455	K562	blood:	n/a	n/a
24	BHLHE40	chr2:20841172-20841254	K562	blood:	n/a	chr2:20841234-20841247
25	BHLHE40	chr2:20842138-20842435	K562	blood:	n/a	chr2:20842325-20842341 chr2:20842269-20842285
26	BHLHE40	chr2:20835403-20835905	K562	blood:	n/a	n/a
27	BHLHE40	chr2:20842204-20842506	GM12878	blood:	n/a	chr2:20842325-20842341 chr2:20842269-20842285
28	BHLHE40	chr2:20850593-20851193	HepG2	liver:	n/a	n/a
29	BHLHE40	chr2:20817699-20817970	K562	blood:	n/a	n/a
30	BHLHE40	chr2:20850588-20851283	GM12878	blood:	n/a	n/a
31	BHLHE40	chr2:20850323-20851340	HepG2	liver:	n/a	n/a
32	BHLHE40	chr2:20850667-20851097	A549	lung:	n/a	n/a
33	BHLHE40	chr2:20835591-20835913	GM12878	blood:	n/a	n/a
34	BHLHE40	chr2:20850217-20851565	K562	blood:	n/a	n/a
35	BRCA1	chr2:20850640-20850950	GM12878	blood:	n/a	n/a
36	BRCA1	chr2:20817621-20818125	Hela-S3	cervix:	n/a	n/a
37	BRCA1	chr2:20850784-20851140	Hela-S3	cervix:	n/a	n/a
38	BRCA1	chr2:20835687-20835917	HepG2	liver:	n/a	n/a
39	BRCA1	chr2:20842275-20842399	HepG2	liver:	n/a	n/a
40	BRCA1	chr2:20841697-20841715	Hela-S3	cervix:	n/a	n/a
41	BRCA1	chr2:20835780-20835792	GM12878	blood:	n/a	n/a
42	BRCA1	chr2:20818976-20819173	Hela-S3	cervix:	n/a	n/a
43	BRCA1	chr2:20817029-20817229	Hela-S3	cervix:	n/a	n/a
44	BRCA1	chr2:20850494-20850597	HepG2	liver:	n/a	n/a
45	BRCA1	chr2:20842059-20842520	Hela-S3	cervix:	n/a	n/a
46	BRCA1	chr2:20850799-20851160	HepG2	liver:	n/a	n/a
47	CBX3	chr2:20850514-20851597	K562	blood:	n/a	n/a
48	CCNT2	chr2:20835659-20835859	K562	blood:	n/a	n/a
49	CCNT2	chr2:20816965-20817303	K562	blood:	n/a	n/a
50	CCNT2	chr2:20846269-20846468	K562	blood:	n/a	n/a

(count:1161 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:20842326-20842376	NHBE	bronchial:	n/a
2	chr2:20851304-20851354	AG09319	gingival:	n/a
3	chr2:20842326-20842376	NHBE	bronchial:	n/a
4	chr2:20851304-20851354	AG09319	gingival:	n/a
5	chr2:20851051-20851101	Hepatocyte	liver:	n/a
6	chr2:20851404-20851454	HUVEC	blood vessel:	n/a
7	chr2:20847299-20847349	NT2-D1	testis:	n/a
8	chr2:20851465-20851515	NH-A	brain:	n/a
9	chr2:20850716-20850766	T-47D	breast:	n/a
10	chr2:20851404-20851454	HNPCEpiC	eye:	n/a
11	chr2:20850523-20850573	HEEpiC	esophagus:	n/a
12	chr2:20826833-20826883	BE2_C	brain:	n/a
13	chr2:20851465-20851515	NHBE	bronchial:	n/a
14	chr2:20851051-20851101	MCF10A-Er-Src	breast:	n/a
15	chr2:20851058-20851108	GM12891	blood:	n/a
16	chr2:20850887-20850937	AoSMC	blood vessel:	n/a
17	chr2:20850716-20850766	AoSMC	blood vessel:	n/a
18	chr2:20850809-20850859	HPAEpiC	pulmonary alveolar:	n/a
19	chr2:20851404-20851454	HL-60	blood:	n/a
20	chr2:20850802-20850852	PANC-1	pancreas:	n/a
21	chr2:20851049-20851099	K562	blood:	n/a
22	chr2:20834624-20834674	Caco-2	colon:	n/a
23	chr2:20851058-20851108	HUVEC	blood vessel:	n/a
24	chr2:20851404-20851454	SK-N-SH_RA	brain:	n/a
25	chr2:20851049-20851099	PrEC	prostate:	n/a
26	chr2:20842326-20842376	HUVEC	blood vessel:	n/a
27	chr2:20842326-20842376	U87	brain:	n/a
28	chr2:20850523-20850573	HCT-116	colon:	n/a
29	chr2:20850523-20850573	ECC-1	luminal epithelium:	n/a
30	chr2:20842326-20842376	NHDF-neo	bronchial:	n/a
31	chr2:20850802-20850852	HAEpiC	amniotic membrane:	n/a
32	chr2:20834624-20834674	PFSK-1	brain:	n/a
33	chr2:20851152-20851202	AG04450	lung:	fetal
34	chr2:20842326-20842376	HRE	kidney:	n/a
35	chr2:20851051-20851101	AG09319	gingival:	n/a
36	chr2:20850284-20850334	MCF10A-Er-Src	breast:	n/a
37	chr2:20850887-20850937	U87	brain:	n/a
38	chr2:20851465-20851515	A549	lung:	n/a
39	chr2:20853360-20853410	A549	lung:	n/a
40	chr2:20851051-20851101	HCM	heart:	n/a
41	chr2:20850887-20850937	NHDF-neo	bronchial:	n/a
42	chr2:20851051-20851101	SK-N-SH_RA	brain:	n/a
43	chr2:20851465-20851515	HRPEpiC	eye:	n/a
44	chr2:20850284-20850334	HMEC	breast:	n/a
45	chr2:20817916-20817966	HRE	kidney:	n/a
46	chr2:20850716-20850766	K562	blood:	n/a
47	chr2:20850716-20850766	HCF	heart:	n/a
48	chr2:20850809-20850859	PFSK-1	brain:	n/a
49	chr2:20851049-20851099	HMEC	breast:	n/a
50	chr2:20850716-20850766	ECC-1	luminal epithelium:	n/a

(count:166 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr2:20850782..20852679-chr2:21021448..21023947,2	K562	blood:
2	chr2:20836710..20839047-chr2:20842345..20844476,2	MCF-7	breast:
3	chr2:20818751..20820914-chr2:20842714..20844441,2	MCF-7	breast:
4	chr2:20610878..20611488-chr2:20835352..20836256,4	K562	blood:
5	chr2:20777746..20779286-chr2:20815507..20817735,2	MCF-7	breast:
6	chr2:20835278..20836248-chr2:20850171..20851022,3	K562	blood:
7	chr2:20826217..20828028-chr2:20848423..20850444,2	K562	blood:
8	chr2:20643137..20644831-chr2:20835031..20837095,2	K562	blood:
9	chr2:20823205..20825849-chr2:20832117..20835423,4	MCF-7	breast:
10	chr2:20755567..20758118-chr2:20834958..20837655,2	MCF-7	breast:
11	chr2:20812051..20815064-chr2:20816352..20817928,3	K562	blood:
12	chr16:2204905..2206890-chr2:20817746..20820102,2	MCF-7	breast:
13	chr2:20839547..20841831-chr2:20843514..20846128,3	K562	blood:
14	chr2:20550682..20553508-chr2:20835725..20837324,2	K562	blood:
15	chr2:20665586..20667484-chr2:20827548..20829987,2	MCF-7	breast:
16	chr2:20835349..20838099-chr2:20838875..20841328,3	MCF-7	breast:
17	chr2:20847786..20848635-chr9:114179250..114180063,2	MCF-7	breast:
18	chr2:20827354..20828915-chr2:20830990..20833952,3	K562	blood:
19	chr2:20595167..20596377-chr2:20841669..20842665,4	MCF-7	breast:
20	chr2:20666575..20668936-chr2:20816033..20817943,2	MCF-7	breast:
21	chr2:20644675..20653597-chr2:20811663..20819940,20	MCF-7	breast:
22	chr2:20664006..20666925-chr2:20834002..20835809,3	MCF-7	breast:
23	chr2:20673619..20674528-chr2:20817295..20818254,2	MCF-7	breast:
24	chr2:20818640..20819216-chr6:26157775..26158310,2	Hela-S3	cervix:
25	chr11:6626432..6627999-chr2:20831399..20833104,2	MCF-7	breast:
26	chr2:20642724..20643586-chr2:20841568..20842737,5	MCF-7	breast:
27	chr2:20787740..20790180-chr2:20814969..20816900,2	K562	blood:
28	chr2:20673594..20675503-chr2:20817763..20819423,2	MCF-7	breast:
29	chr2:20708831..20710405-chr2:20830760..20832680,2	MCF-7	breast:
30	chr2:20671303..20674787-chr2:20817796..20820495,3	MCF-7	breast:
31	chr2:20551601..20553664-chr2:20833641..20836097,2	MCF-7	breast:
32	chr2:20800320..20801207-chr2:20842158..20842805,4	MCF-7	breast:
33	chr2:20818029..20819883-chr2:20821089..20823704,2	K562	blood:
34	chr2:20818868..20821100-chr2:20824834..20827973,3	K562	blood:
35	chr2:20690982..20693421-chr2:20832720..20834277,2	MCF-7	breast:
36	chr2:20783319..20786192-chr2:20833674..20835720,2	MCF-7	breast:
37	chr2:20795835..20797595-chr2:20834654..20837275,2	K562	blood:
38	chr2:20671558..20673879-chr2:20833720..20836195,3	MCF-7	breast:
39	chr2:20709959..20713147-chr2:20833263..20835547,3	MCF-7	breast:
40	chr2:20792170..20795116-chr2:20815831..20817825,2	MCF-7	breast:
41	chr2:20593175..20595883-chr2:20842379..20844457,2	MCF-7	breast:
42	chr2:20798617..20801050-chr2:20836301..20838004,2	MCF-7	breast:
43	chr2:20837273..20840218-chr2:20850500..20852819,2	K562	blood:
44	chr2:20607947..20609876-chr2:20833960..20836883,2	MCF-7	breast:
45	chr2:20841385..20842959-chr2:20847975..20849536,2	K562	blood:
46	chr2:20694483..20697401-chr2:20832630..20835726,3	MCF-7	breast:
47	chr2:20836786..20840702-chr2:20847859..20850554,4	MCF-7	breast:
48	chr2:20610929..20611800-chr2:20841880..20842825,3	MCF-7	breast:
49	chr2:20824547..20826774-chr2:20828873..20830778,2	K562	blood:
50	chr2:20826367..20828028-chr2:20848944..20850812,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C2orf43-4	chr2:20812057-20816027	NONHSAT069462

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	HS1BP3	hsa-miR-124-3p	chr2:20817689-20817682

Variant related genes	Relation type
HS1BP3	TF binding region
HS1BP3	CpG island
ENSG00000231948	chromatin interactions
ENSG00000107816	chromatin interactions
ENSG00000206630	chromatin interactions
ENSG00000228950	chromatin interactions
ENSG00000269976	chromatin interactions
ENSG00000143878	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000118961	chromatin interactions
ENSG00000211575	chromatin interactions
ENSG00000252216	chromatin interactions
ENSG00000212171	chromatin interactions
ENSG00000118960	chromatin interactions
ENSG00000232800	chromatin interactions
ENSG00000260260	chromatin interactions
ENSG00000055917	chromatin interactions
ENSG00000131653	chromatin interactions
ENSG00000138182	chromatin interactions
ENSG00000148926	chromatin interactions
ENSG00000160766	chromatin interactions
ENSG00000143442	chromatin interactions

Extended variants
information (count: 1830 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:1830 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17662495	chr2:20814583-20814584	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs541971158	chr2:20814620-20814621	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
3	rs140259585	chr2:20814621-20814622	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
4	rs73235060	chr2:20814634-20814635	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs35305648	chr2:20814647-20814648	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
6	rs17719096	chr2:20814663-20814664	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs6728166	chr2:20814715-20814716	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs373592808	chr2:20814716-20814717	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
9	rs76146635	chr2:20814733-20814734	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
10	rs116308821	chr2:20814745-20814746	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
11	rs367646516	chr2:20814767-20814768	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
12	rs371754953	chr2:20814861-20814862	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
13	rs535500689	chr2:20814866-20814867	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
14	rs548791830	chr2:20814878-20814879	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
15	rs565469335	chr2:20814933-20814934	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
16	rs62125674	chr2:20814975-20814976	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs368125557	chr2:20814984-20814985	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
18	rs72782382	chr2:20814985-20814986	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs17719114	chr2:20815040-20815041	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs536675581	chr2:20815041-20815042	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
21	rs17719159	chr2:20815059-20815060	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs542836035	chr2:20815115-20815116	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
23	rs78680066	chr2:20815131-20815132	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
24	rs35527388	chr2:20815141-20815142	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs533454432	chr2:20815184-20815185	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
26	rs4666317	chr2:20815185-20815186	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs17662614	chr2:20815190-20815191	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs533641688	chr2:20815192-20815193	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
29	rs80111761	chr2:20815200-20815201	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
30	rs564044806	chr2:20815204-20815205	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
31	rs529447392	chr2:20815217-20815218	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
32	rs373320184	chr2:20815221-20815222	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
33	rs144030599	chr2:20815224-20815225	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
34	rs565430086	chr2:20815277-20815278	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
35	rs528185676	chr2:20815290-20815291	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
36	rs116398667	chr2:20815312-20815313	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
37	rs570924891	chr2:20815398-20815399	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
38	rs537080624	chr2:20815403-20815404	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
39	rs372636730	chr2:20815448-20815449	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
40	rs567597290	chr2:20815468-20815469	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
41	rs16987904	chr2:20815505-20815506	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs553212162	chr2:20815506-20815507	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
43	rs376540971	chr2:20815540-20815541	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
44	rs572524864	chr2:20815558-20815559	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
45	rs565988906	chr2:20815569-20815570	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
46	rs534278510	chr2:20815570-20815571	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
47	rs577943855	chr2:20815593-20815594	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
48	rs543830440	chr2:20815604-20815605	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
49	rs374858222	chr2:20815609-20815610	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
50	rs143327557	chr2:20815651-20815652	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	21508638	CNVD
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Ependymoma	16718352	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	20607354	CNVD
Neuroblastoma	19638189	CNVD
Neuroblastoma	19435921	CNVD
Neuroblastoma	18574593	CNVD
Acute myeloid leukemia	18000384	CNVD
Medulloblastoma	16968546	CNVD
Medulloblastoma	22160402	CNVD
Schizophrenia	22118685	CNVD
Epilepsy	22118685	CNVD
Breast cancer	21509527	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	17908972	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Neuroblastoma	18664255	CNVD
Neuroblastoma	18765546	CNVD
Neuroblastoma	18281664	CNVD
Neuroblastoma	17289879	CNVD
Neuroblastoma	19738985	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:2295 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20805200-20816000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:20808400-20816400	Enhancers	Rectal Smooth Muscle	rectum
3	chr2:20808400-20816600	Enhancers	Colon Smooth Muscle	Colon
4	chr2:20808400-20816800	Enhancers	Adipose Nuclei	Adipose
5	chr2:20808400-20819600	Enhancers	Fetal Muscle Leg	muscle
6	chr2:20808600-20818600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr2:20808600-20819400	Enhancers	Brain Anterior Caudate	brain
8	chr2:20808600-20819800	Enhancers	Brain Substantia Nigra	brain
9	chr2:20809000-20817200	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr2:20809400-20816200	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr2:20809600-20816600	Weak transcription	Fetal Thymus	thymus
12	chr2:20809600-20819200	Weak transcription	Primary T cells from cord blood	blood
13	chr2:20809800-20815000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr2:20810800-20819200	Weak transcription	Primary B cells from cord blood	blood
15	chr2:20810800-20819600	Enhancers	Brain Hippocampus Middle	brain
16	chr2:20811600-20816200	Weak transcription	Primary hematopoietic stem cells	blood
17	chr2:20811600-20816200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr2:20811600-20820200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr2:20811800-20814600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr2:20811800-20815800	Weak transcription	Fetal Kidney	kidney
21	chr2:20811800-20816000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr2:20811800-20816400	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr2:20811800-20817200	Enhancers	HepG2	liver
24	chr2:20812000-20815600	Weak transcription	Fetal Heart	heart
25	chr2:20812200-20819200	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr2:20812400-20816800	Enhancers	Spleen	Spleen
27	chr2:20812400-20817600	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr2:20812400-20820600	Enhancers	Right Ventricle	heart
29	chr2:20812400-20820800	Enhancers	Right Atrium	heart
30	chr2:20812400-20821200	Enhancers	Left Ventricle	heart
31	chr2:20812600-20818200	Enhancers	Brain Cingulate Gyrus	brain
32	chr2:20812600-20819200	Enhancers	Brain Angular Gyrus	brain
33	chr2:20812800-20819400	Enhancers	Fetal Lung	lung
34	chr2:20813000-20814800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr2:20813000-20815400	Enhancers	Gastric	stomach
36	chr2:20813000-20818200	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr2:20813000-20818200	Enhancers	Fetal Intestine Large	intestine
38	chr2:20813000-20818400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr2:20813000-20818400	Enhancers	Lung	lung
40	chr2:20813000-20819000	Enhancers	Fetal Muscle Trunk	muscle
41	chr2:20813000-20819200	Enhancers	Esophagus	oesophagus
42	chr2:20813000-20819200	Enhancers	Psoas Muscle	Psoas
43	chr2:20813200-20814800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr2:20813200-20816800	Weak transcription	Fetal Brain Male	brain
45	chr2:20813400-20814800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr2:20813400-20814800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr2:20813400-20815000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr2:20813400-20815200	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr2:20813400-20816400	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr2:20813400-20817400	Enhancers	H1 Cell Line	embryonic stem cell

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