Variant report

Variant	nsv519385
Chromosome Location	chr21:45237039-45263920
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:554)
CpG islands
(count:550)
Chromatin interactive
region (count:54)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:554 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr21:45258795-45259076	GM12878	blood:	n/a	chr21:45258889-45258900
2	BATF	chr21:45262695-45262931	GM12878	blood:	n/a	n/a
3	BCL11A	chr21:45258829-45259134	GM12878	blood:	n/a	n/a
4	BCL3	chr21:45246275-45246666	GM12878	blood:	n/a	n/a
5	BCL3	chr21:45246319-45246608	GM12878	blood:	n/a	n/a
6	BCL3	chr21:45247035-45247302	GM12878	blood:	n/a	n/a
7	BHLHE40	chr21:45262718-45262788	GM12878	blood:	n/a	n/a
8	BHLHE40	chr21:45238457-45238507	K562	blood:	n/a	n/a
9	BHLHE40	chr21:45258850-45259152	GM12878	blood:	n/a	n/a
10	BHLHE40	chr21:45258996-45259004	K562	blood:	n/a	n/a
11	BHLHE40	chr21:45244366-45244530	K562	blood:	n/a	n/a
12	BHLHE40	chr21:45249472-45249684	K562	blood:	n/a	n/a
13	BRCA1	chr21:45247094-45247335	Hela-S3	cervix:	n/a	n/a
14	CBX3	chr21:45244243-45244895	K562	blood:	n/a	n/a
15	CBX3	chr21:45253339-45253725	K562	blood:	n/a	n/a
16	CBX3	chr21:45245011-45245299	K562	blood:	n/a	n/a
17	CBX3	chr21:45249357-45249962	K562	blood:	n/a	n/a
18	CCNT2	chr21:45244276-45244582	K562	blood:	n/a	n/a
19	CCNT2	chr21:45247247-45247259	K562	blood:	n/a	n/a
20	CEBPB	chr21:45238100-45238206	K562	blood:	n/a	n/a
21	CEBPB	chr21:45261029-45261271	K562	blood:	n/a	n/a
22	CEBPB	chr21:45262237-45262436	K562	blood:	n/a	chr21:45262270-45262281
23	CEBPB	chr21:45258223-45258475	HepG2	liver:	n/a	chr21:45258304-45258315
24	CEBPB	chr21:45251675-45251910	K562	blood:	n/a	n/a
25	CEBPB	chr21:45251635-45251892	HepG2	liver:	n/a	n/a
26	CEBPB	chr21:45262166-45262437	HepG2	liver:	n/a	chr21:45262270-45262281
27	CEBPB	chr21:45262182-45262374	HepG2	liver:	n/a	chr21:45262270-45262281
28	CEBPB	chr21:45246256-45246456	HepG2	liver:	n/a	n/a
29	CEBPB	chr21:45258241-45258434	K562	blood:	n/a	chr21:45258304-45258315
30	CEBPB	chr21:45258182-45258373	HepG2	liver:	n/a	chr21:45258304-45258315
31	CEBPZ	chr21:45253667-45253717	HepG2	liver:	n/a	n/a
32	CHD2	chr21:45246243-45246429	Hela-S3	cervix:	n/a	n/a
33	CHD2	chr21:45246865-45247333	Hela-S3	cervix:	n/a	n/a
34	CHD2	chr21:45249803-45249968	K562	blood:	n/a	n/a
35	CHD2	chr21:45249626-45249826	H1-hESC	embryonic stem cell:	n/a	n/a
36	CHD2	chr21:45246872-45246880	HepG2	liver:	n/a	n/a
37	CHD2	chr21:45249530-45249641	HepG2	liver:	n/a	n/a
38	CHD2	chr21:45258930-45259035	GM12878	blood:	n/a	n/a
39	CTCF	chr21:45246100-45246250	WI-38	lung:	n/a	chr21:45246183-45246196
40	CTCF	chr21:45246080-45246230	GM12865	blood:	n/a	chr21:45246183-45246196
41	CTCF	chr21:45249542-45249557	HUVEC	blood vessel:	n/a	n/a
42	CTCF	chr21:45246100-45246250	A549	lung:	n/a	chr21:45246183-45246196
43	CTCF	chr21:45246280-45246430	HFF-Myc	foreskin:	n/a	n/a
44	CTCF	chr21:45246020-45246170	GM12875	blood:	n/a	n/a
45	CTCF	chr21:45249483-45249611	Medullo	brain:	n/a	n/a
46	CTCF	chr21:45246040-45246190	HEEpiC	esophagus:	n/a	n/a
47	CTCF	chr21:45245980-45246130	A549	lung:	n/a	chr21:45246004-45246022
48	CTCF	chr21:45249480-45249630	GM12869	blood:	n/a	n/a
49	CTCF	chr21:45249457-45249596	SK-N-SH_RA	brain:	n/a	n/a
50	CTCF	chr21:45250331-45250393	K562	blood:	n/a	chr21:45250346-45250364

(count:550 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:45243302-45243352	Jurkat	blood:	n/a
2	chr21:45243302-45243352	Jurkat	blood:	n/a
3	chr21:45247038-45247088	PANC-1	pancreas:	n/a
4	chr21:45246252-45246302	AG09309	skin:	n/a
5	chr21:45246308-45246358	HepG2	liver:	n/a
6	chr21:45247038-45247088	SK-N-SH_RA	brain:	n/a
7	chr21:45246060-45246110	SK-N-MC	brain:	n/a
8	chr21:45246164-45246214	T-47D	breast:	n/a
9	chr21:45246363-45246413	BE2_C	brain:	n/a
10	chr21:45243302-45243352	T-47D	breast:	n/a
11	chr21:45246363-45246413	HRE	kidney:	n/a
12	chr21:45246252-45246302	BE2_C	brain:	n/a
13	chr21:45246252-45246302	AG10803	skin:	n/a
14	chr21:45246308-45246358	LNCaP	prostate:	n/a
15	chr21:45246060-45246110	BE2_C	brain:	n/a
16	chr21:45246252-45246302	PANC-1	pancreas:	n/a
17	chr21:45246308-45246358	AG10803	skin:	n/a
18	chr21:45246441-45246491	HRPEpiC	eye:	n/a
19	chr21:45246060-45246110	AG09309	skin:	n/a
20	chr21:45246308-45246358	HAEpiC	amniotic membrane:	n/a
21	chr21:45246363-45246413	HCM	heart:	n/a
22	chr21:45247038-45247088	HIPEpiC	eye:	n/a
23	chr21:45246060-45246110	A549	lung:	n/a
24	chr21:45246363-45246413	HUVEC	blood vessel:	n/a
25	chr21:45247038-45247088	NHBE	bronchial:	n/a
26	chr21:45246252-45246302	AG04449	skin:	fetal
27	chr21:45246060-45246110	HRPEpiC	eye:	n/a
28	chr21:45246060-45246110	GM12891	blood:	n/a
29	chr21:45243302-45243352	HPAEpiC	pulmonary alveolar:	n/a
30	chr21:45246308-45246358	SAEC	small airway:	n/a
31	chr21:45246441-45246491	HCPEpiC	choroid plexus:	n/a
32	chr21:45246252-45246302	PrEC	prostate:	n/a
33	chr21:45246308-45246358	ECC-1	luminal epithelium:	n/a
34	chr21:45246363-45246413	HEK293	kidney:	embryo
35	chr21:45246164-45246214	HIPEpiC	eye:	n/a
36	chr21:45246060-45246110	NH-A	brain:	n/a
37	chr21:45246441-45246491	RPTEC	kidney:	n/a
38	chr21:45246060-45246110	MCF10A-Er-Src	breast:	n/a
39	chr21:45249837-45249887	ovcar-3	ovarian:	n/a
40	chr21:45246363-45246413	ECC-1	luminal epithelium:	n/a
41	chr21:45246308-45246358	CMK	blood:	n/a
42	chr21:45243302-45243352	AG09309	skin:	n/a
43	chr21:45246441-45246491	U87	brain:	n/a
44	chr21:45246060-45246110	HL-60	blood:	n/a
45	chr21:45246252-45246302	Jurkat	blood:	n/a
46	chr21:45246363-45246413	NHBE	bronchial:	n/a
47	chr21:45246060-45246110	HCF	heart:	n/a
48	chr21:45249837-45249887	SKMC	muscle:	n/a
49	chr21:45246308-45246358	NHDF-neo	bronchial:	n/a
50	chr21:45247038-45247088	T-47D	breast:	n/a

(count:54 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr21:45242806..45245083-chr21:45249324..45252265,2	MCF-7	breast:
2	chr21:45236743..45238556-chr21:45284722..45286345,2	MCF-7	breast:
3	chr21:45225718..45228025-chr21:45244966..45246549,2	MCF-7	breast:
4	chr21:45249077..45249616-chr21:45337283..45338226,2	K562	blood:
5	chr21:45257189..45259309-chr21:45430591..45432383,2	K562	blood:
6	chr21:45242806..45245083-chr21:45249324..45252265,2	MCF-7	breast:
7	chr21:45256513..45258052-chr21:45276147..45278595,2	K562	blood:
8	chr21:45192905..45195528-chr21:45235425..45238416,2	MCF-7	breast:
9	chr21:45249565..45251111-chr21:45525801..45527858,2	MCF-7	breast:
10	chr21:45254192..45256838-chr21:45256879..45259867,3	K562	blood:
11	chr21:45254709..45256717-chr21:45274155..45276543,2	MCF-7	breast:
12	chr21:45258206..45260465-chr21:45339713..45341895,2	K562	blood:
13	chr21:45249509..45251897-chr21:45254038..45257016,3	K562	blood:
14	chr21:45226284..45237567-chr21:45281864..45289573,19	K562	blood:
15	chr21:45237201..45239998-chr21:45352077..45354787,2	K562	blood:
16	chr21:45250176..45252507-chr21:45266082..45267987,2	MCF-7	breast:
17	chr21:45236395..45237208-chr21:45348998..45349676,2	MCF-7	breast:
18	chr21:45262417..45264171-chr21:45290181..45291751,2	K562	blood:
19	chr21:45255403..45257134-chr21:45257477..45260096,2	MCF-7	breast:
20	chr21:45248939..45255746-chr21:45272255..45276727,7	K562	blood:
21	chr21:45230338..45231005-chr21:45249127..45250028,2	MCF-7	breast:
22	chr21:45244325..45246343-chr21:45341504..45344218,2	K562	blood:
23	chr21:45245397..45247406-chr21:45719221..45721877,2	K562	blood:
24	chr21:45255403..45257134-chr21:45257477..45260096,2	MCF-7	breast:
25	chr21:45254192..45256838-chr21:45256879..45259867,3	K562	blood:
26	chr21:45259706..45262465-chr21:45266330..45269071,2	K562	blood:
27	chr21:45249286..45250425-chr21:45358859..45359776,4	MCF-7	breast:
28	chr21:45254673..45257223-chr21:45369004..45371482,2	K562	blood:
29	chr21:45230202..45231969-chr21:45236707..45239861,3	MCF-7	breast:
30	chr21:45249294..45252686-chr21:45284746..45287890,3	K562	blood:
31	chr21:45240125..45242679-chr21:45283332..45285060,2	MCF-7	breast:
32	chr21:45238190..45239894-chr21:45283911..45285576,2	MCF-7	breast:
33	chr21:45252796..45255240-chr21:45273373..45275874,2	K562	blood:
34	chr21:45238123..45243699-chr21:45249780..45254219,5	K562	blood:
35	chr21:45238123..45243699-chr21:45249780..45254219,5	K562	blood:
36	chr21:45255011..45256838-chr21:45256879..45259867,3	K562	blood:
37	chr21:45257189..45259738-chr21:45430883..45432631,2	K562	blood:
38	chr21:45248181..45251000-chr21:45264176..45267243,3	K562	blood:
39	chr21:45249509..45251897-chr21:45254038..45257016,3	K562	blood:
40	chr21:45238343..45240639-chr21:45244780..45247104,2	MCF-7	breast:
41	chr21:45231023..45235105-chr21:45244093..45247662,3	MCF-7	breast:
42	chr21:45260297..45261992-chr21:45274778..45277152,2	K562	blood:
43	chr21:45255011..45256838-chr21:45256879..45259867,3	K562	blood:
44	chr21:45233511..45237736-chr21:45356519..45359137,5	K562	blood:
45	chr21:45231798..45234751-chr21:45247944..45249688,2	K562	blood:
46	chr21:45249455..45252079-chr21:45279419..45281351,2	K562	blood:
47	chr21:45261247..45264738-chr21:45270160..45273538,3	K562	blood:
48	chr21:45243436..45244800-chr21:45358660..45359547,3	K562	blood:
49	chr21:45248952..45249750-chr21:45395021..45396037,3	MCF-7	breast:
50	chr21:45248431..45251491-chr21:45282831..45285581,3	MCF-7	breast:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CSTB-2	chr21:45243514-45243999	l_2228_chr21:45243513-45244760_testes
2	lnc-CSTB-2	chr21:45248787-45249070	NONHSAT082461
3	lnc-CSTB-2	chr21:45248787-45249070	l_2228_chr21:45243513-45244760_testes
4	lnc-CSTB-2	chr21:45243550-45243999	NONHSAT082461
5	lnc-CSTB-2	chr21:45244734-45244760	l_2228_chr21:45243513-45244760_testes

No data

Variant related genes	Relation type
ENSG00000215458	TF binding region
ENSG00000215458	CpG island
ENSG00000215458	chromatin interactions
ENSG00000160218	chromatin interactions
ENSG00000241945	chromatin interactions
ENSG00000141959	chromatin interactions
ENSG00000199598	chromatin interactions
ENSG00000226543	chromatin interactions
ENSG00000160216	chromatin interactions

Extended variants
information (count: 1415 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:1415 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2838397	chr21:45237039-45237040	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs190128342	chr21:45237082-45237083	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs544624529	chr21:45237111-45237112	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs182730536	chr21:45237160-45237161	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs575189454	chr21:45237212-45237213	Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs542503961	chr21:45237225-45237226	Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs145564845	chr21:45237234-45237235	Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs146539315	chr21:45237247-45237248	Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs540383483	chr21:45237278-45237279	Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs2838398	chr21:45237289-45237290	Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs77785511	chr21:45237294-45237295	Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs73224984	chr21:45237313-45237314	Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs537210048	chr21:45237322-45237323	Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs562857798	chr21:45237353-45237354	Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs530460456	chr21:45237367-45237368	Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs73906635	chr21:45237368-45237369	Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs567108742	chr21:45237410-45237411	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs372716716	chr21:45237419-45237420	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs534142783	chr21:45237446-45237447	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs1573334	chr21:45237494-45237495	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs571279615	chr21:45237505-45237506	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs73906636	chr21:45237508-45237509	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs73906637	chr21:45237527-45237528	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs574890548	chr21:45237568-45237569	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs535797366	chr21:45237609-45237610	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs554578112	chr21:45237624-45237625	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs573058999	chr21:45237684-45237685	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs369437161	chr21:45237685-45237686	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs565068966	chr21:45237691-45237692	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs577450651	chr21:45237721-45237722	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs544711918	chr21:45237760-45237761	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs149388892	chr21:45237761-45237762	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs114852938	chr21:45237771-45237772	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs143757512	chr21:45237794-45237795	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs560641512	chr21:45237810-45237811	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs75347417	chr21:45237824-45237825	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs552527626	chr21:45237827-45237828	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs571015815	chr21:45237848-45237849	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs113778230	chr21:45237850-45237851	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs572034221	chr21:45237861-45237862	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs550264105	chr21:45237887-45237888	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs62227467	chr21:45237930-45237931	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs568571537	chr21:45237933-45237934	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs535861792	chr21:45237941-45237942	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs187380996	chr21:45237956-45237957	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs149746927	chr21:45237957-45237958	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs2838399	chr21:45237978-45237979	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs534079116	chr21:45237979-45237980	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs558514348	chr21:45238000-45238001	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs545418176	chr21:45238060-45238061	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Down syndrome	17412756	CNVD
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Renal cell carcinoma	19461508	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Melanoma	18172304	CNVD
Autism	22958593	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Wilms tumour	21544195	CNVD
Ewing''s sarcoma	17952124	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute myeloid leukemia	16864856	CNVD
Mental retardation	21031080	CNVD
Polymicrogyria	21031080	CNVD
periventricular nodular heterotopia	21031080	CNVD
Myelodysplastic syndrome	21606161	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21858162	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17899364	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Glioblastoma multiforme	18628472	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	17457615	CNVD
Ewing''s sarcoma	21437220	CNVD
Lung adenocarcinoma	17086460	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute myeloid leukemia	21358987	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	23341502	CNVD
Ovarian cancer	21720365	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	21251322	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Cholangiocarcinoma	16830362	CNVD
Down syndrome	17334655	CNVD
Neuroticism	17667963	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Autoimmune polyendocrine syndrome	18200029	CNVD
Prostate cancer	19363497	CNVD
Lung cancer	17086460	CNVD
Olfactory neuroblastoma	18408657	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21509527	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	17142309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ewing''s sarcoma	18628472	CNVD
Leukemia	18628472	CNVD

Chromatin state (count:361 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45211000-45257200	Weak transcription	Right Atrium	heart
2	chr21:45224800-45238400	Weak transcription	Aorta	Aorta
3	chr21:45232600-45237200	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr21:45232800-45238400	Weak transcription	Brain Substantia Nigra	brain
5	chr21:45232800-45241400	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr21:45232800-45244000	Weak transcription	Brain Angular Gyrus	brain
7	chr21:45233200-45237400	Weak transcription	Lung	lung
8	chr21:45234800-45245000	Weak transcription	Brain Anterior Caudate	brain
9	chr21:45235000-45237200	Weak transcription	Adipose Nuclei	Adipose
10	chr21:45235000-45237400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr21:45235000-45237400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr21:45235000-45238400	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr21:45235000-45239000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr21:45235000-45244000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr21:45235400-45238600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
16	chr21:45235600-45237400	Weak transcription	Esophagus	oesophagus
17	chr21:45235600-45237800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr21:45235600-45238400	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr21:45236000-45238200	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr21:45236000-45238200	Weak transcription	K562	blood
21	chr21:45236000-45244200	Weak transcription	Right Ventricle	heart
22	chr21:45236000-45245000	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr21:45236200-45238600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr21:45236600-45237200	Enhancers	H1 Cell Line	embryonic stem cell
25	chr21:45236600-45237800	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr21:45236600-45238000	Enhancers	GM12878-XiMat	blood
27	chr21:45236600-45238200	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr21:45236800-45237600	Flanking Bivalent TSS/Enh	HepG2	liver
29	chr21:45237000-45237200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr21:45237000-45237200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr21:45237000-45237200	Enhancers	Liver	Liver
32	chr21:45237000-45237200	Enhancers	Brain Hippocampus Middle	brain
33	chr21:45237000-45237200	Enhancers	Fetal Intestine Small	intestine
34	chr21:45237000-45237200	Flanking Active TSS	Spleen	Spleen
35	chr21:45237000-45237600	Enhancers	Primary B cells from peripheral blood	blood
36	chr21:45237000-45237800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr21:45237000-45237800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr21:45237000-45237800	Enhancers	Fetal Muscle Leg	muscle
39	chr21:45237000-45238000	Enhancers	Placenta	Placenta
40	chr21:45237000-45240600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
41	chr21:45237200-45237400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr21:45237200-45237400	Enhancers	Fetal Intestine Large	intestine
43	chr21:45237200-45237800	Enhancers	Adipose Nuclei	Adipose
44	chr21:45237200-45237800	Enhancers	Spleen	Spleen
45	chr21:45237200-45238800	Enhancers	Primary neutrophils fromperipheralblood	blood
46	chr21:45237400-45237600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr21:45237400-45237600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr21:45237400-45237600	Enhancers	Lung	lung
49	chr21:45237400-45237600	Bivalent Enhancer	Stomach Smooth Muscle	stomach
50	chr21:45237400-45237800	Enhancers	Esophagus	oesophagus

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