Variant report

Variant	esv1844567
Chromosome Location	chr21:45230974-45246326
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:713)
CpG islands
(count:793)
Chromatin interactive
region (count:64)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:713 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr21:45230618-45231142	GM12878	blood:	n/a	n/a
2	BACH1	chr21:45230745-45230981	H1-hESC	embryonic stem cell:	n/a	n/a
3	BCL3	chr21:45246275-45246666	GM12878	blood:	n/a	n/a
4	BCL3	chr21:45246319-45246608	GM12878	blood:	n/a	n/a
5	BCLAF1	chr21:45230623-45231085	GM12878	blood:	n/a	n/a
6	BCLAF1	chr21:45230598-45231041	GM12878	blood:	n/a	n/a
7	BHLHE40	chr21:45232195-45232216	HepG2	liver:	n/a	n/a
8	BHLHE40	chr21:45244366-45244530	K562	blood:	n/a	n/a
9	BHLHE40	chr21:45230622-45231042	GM12878	blood:	n/a	n/a
10	BHLHE40	chr21:45238457-45238507	K562	blood:	n/a	n/a
11	BHLHE40	chr21:45230594-45231125	K562	blood:	n/a	n/a
12	BHLHE40	chr21:45230644-45231017	HepG2	liver:	n/a	n/a
13	BRCA1	chr21:45230945-45231132	HepG2	liver:	n/a	n/a
14	CBX3	chr21:45245011-45245299	K562	blood:	n/a	n/a
15	CBX3	chr21:45244243-45244895	K562	blood:	n/a	n/a
16	CBX3	chr21:45230602-45231120	K562	blood:	n/a	n/a
17	CCNT2	chr21:45230681-45231185	K562	blood:	n/a	n/a
18	CCNT2	chr21:45244276-45244582	K562	blood:	n/a	n/a
19	CEBPB	chr21:45231986-45232144	Hela-S3	cervix:	n/a	n/a
20	CEBPB	chr21:45231968-45232168	HepG2	liver:	n/a	n/a
21	CEBPB	chr21:45238100-45238206	K562	blood:	n/a	n/a
22	CEBPB	chr21:45231961-45232205	IMR90	lung:	n/a	n/a
23	CEBPB	chr21:45231939-45232247	K562	blood:	n/a	n/a
24	CEBPB	chr21:45246256-45246456	HepG2	liver:	n/a	n/a
25	CEBPB	chr21:45231992-45232226	A549	lung:	n/a	n/a
26	CHD2	chr21:45230515-45231023	GM12878	blood:	n/a	n/a
27	CHD2	chr21:45246243-45246429	Hela-S3	cervix:	n/a	n/a
28	CHD2	chr21:45231787-45231910	K562	blood:	n/a	n/a
29	CHD2	chr21:45230350-45231092	K562	blood:	n/a	n/a
30	CHD2	chr21:45236692-45236795	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr21:45246080-45246230	GM12864	blood:	n/a	chr21:45246183-45246196
32	CTCF	chr21:45236642-45236850	MCF-7	breast:	n/a	chr21:45236735-45236756 chr21:45236742-45236755 chr21:45236741-45236757 chr21:45236740-45236758
33	CTCF	chr21:45230634-45230985	MCF-7	breast:	n/a	n/a
34	CTCF	chr21:45246000-45246150	AG04450	lung:	n/a	chr21:45246004-45246022
35	CTCF	chr21:45246099-45246295	MCF-7	breast:	n/a	chr21:45246183-45246196
36	CTCF	chr21:45246140-45246290	BJ	skin:	n/a	chr21:45246183-45246196
37	CTCF	chr21:45245906-45246501	A549	lung:	n/a	chr21:45246004-45246022 chr21:45246183-45246196
38	CTCF	chr21:45230620-45231023	GM19238	blood:	n/a	n/a
39	CTCF	chr21:45236700-45236850	HCT-116	colon:	n/a	chr21:45236735-45236756 chr21:45236742-45236755 chr21:45236741-45236757 chr21:45236740-45236758
40	CTCF	chr21:45236632-45236837	K562	blood:	n/a	chr21:45236735-45236756 chr21:45236742-45236755 chr21:45236741-45236757 chr21:45236740-45236758 chr21:45236638-45236651
41	CTCF	chr21:45232580-45232730	NHEK	skin:	n/a	n/a
42	CTCF	chr21:45246080-45246230	HUVEC	blood vessel:	n/a	chr21:45246183-45246196
43	CTCF	chr21:45246080-45246230	NB4	blood:	n/a	chr21:45246183-45246196
44	CTCF	chr21:45236578-45236820	K562	blood:	n/a	chr21:45236735-45236756 chr21:45236742-45236755 chr21:45236741-45236757 chr21:45236740-45236758 chr21:45236638-45236651
45	CTCF	chr21:45236117-45236292	H1-hESC	embryonic stem cell:	n/a	chr21:45236159-45236168
46	CTCF	chr21:45236080-45236230	HBMEC	blood vessel:	n/a	chr21:45236159-45236168
47	CTCF	chr21:45236612-45236884	GM12892	blood:	n/a	chr21:45236735-45236756 chr21:45236742-45236755 chr21:45236741-45236757 chr21:45236740-45236758 chr21:45236638-45236651
48	CTCF	chr21:45246100-45246250	GM12864	blood:	n/a	chr21:45246183-45246196
49	CTCF	chr21:45232600-45232750	HEEpiC	esophagus:	n/a	n/a
50	CTCF	chr21:45245902-45246450	MCF-7	breast:	n/a	chr21:45246004-45246022 chr21:45246183-45246196

(count:793 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:45233585-45233635	HRE	kidney:	n/a
2	chr21:45233662-45233712	MCF-7	breast:	n/a
3	chr21:45232531-45232581	MCF10A-Er-Src	breast:	n/a
4	chr21:45243302-45243352	CMK	blood:	n/a
5	chr21:45246164-45246214	AG09319	gingival:	n/a
6	chr21:45243302-45243352	ECC-1	luminal epithelium:	n/a
7	chr21:45233662-45233712	U87	brain:	n/a
8	chr21:45246252-45246302	NH-A	brain:	n/a
9	chr21:45233585-45233635	LNCaP	prostate:	n/a
10	chr21:45232587-45232637	NB4	blood:	n/a
11	chr21:45233585-45233635	Hela-S3	cervix:	n/a
12	chr21:45246308-45246358	PANC-1	pancreas:	n/a
13	chr21:45233662-45233712	BJ	skin:	n/a
14	chr21:45246308-45246358	Caco-2	colon:	n/a
15	chr21:45232595-45232645	HMEC	breast:	n/a
16	chr21:45233508-45233558	AG04450	lung:	fetal
17	chr21:45232232-45232282	BJ	skin:	n/a
18	chr21:45243302-45243352	Hela-S3	cervix:	n/a
19	chr21:45233662-45233712	ECC-1	luminal epithelium:	n/a
20	chr21:45232587-45232637	HepG2	liver:	n/a
21	chr21:45246308-45246358	U87	brain:	n/a
22	chr21:45232587-45232637	MCF-7	breast:	n/a
23	chr21:45232531-45232581	MCF-7	breast:	n/a
24	chr21:45232587-45232637	HUVEC	blood vessel:	n/a
25	chr21:45232587-45232637	HCM	heart:	n/a
26	chr21:45246060-45246110	IMR90	lung:	fetal
27	chr21:45232601-45232651	K562	blood:	n/a
28	chr21:45246252-45246302	AG09319	gingival:	n/a
29	chr21:45243302-45243352	RPTEC	kidney:	n/a
30	chr21:45232531-45232581	GM12891	blood:	n/a
31	chr21:45243302-45243352	ProgFib	skin:	n/a
32	chr21:45243302-45243352	AG09319	gingival:	n/a
33	chr21:45233508-45233558	NH-A	brain:	n/a
34	chr21:45246308-45246358	K562	blood:	n/a
35	chr21:45232587-45232637	A549	lung:	n/a
36	chr21:45232595-45232645	HEK293	kidney:	embryo
37	chr21:45232531-45232581	SKMC	muscle:	n/a
38	chr21:45243302-45243352	GM12892	blood:	n/a
39	chr21:45246164-45246214	NH-A	brain:	n/a
40	chr21:45233662-45233712	GM12878	blood:	n/a
41	chr21:45246164-45246214	NHDF-neo	bronchial:	n/a
42	chr21:45246060-45246110	AG10803	skin:	n/a
43	chr21:45246252-45246302	Hepatocyte	liver:	n/a
44	chr21:45232232-45232282	GM19239	blood:	n/a
45	chr21:45232531-45232581	Jurkat	blood:	n/a
46	chr21:45232232-45232282	AG04449	skin:	fetal
47	chr21:45243302-45243352	HMEC	breast:	n/a
48	chr21:45232595-45232645	HCT-116	colon:	n/a
49	chr21:45246308-45246358	AoSMC	blood vessel:	n/a
50	chr21:45232531-45232581	K562	blood:	n/a

(count:64 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr21:45245397..45247406-chr21:45719221..45721877,2	K562	blood:
2	chr21:45244798..45246785-chr21:45283892..45286070,2	MCF-7	breast:
3	chr21:45230512..45231278-chr21:45558039..45558702,3	MCF-7	breast:
4	chr21:45233511..45236046-chr21:45357246..45359137,3	K562	blood:
5	chr21:45238343..45240639-chr21:45244780..45247104,2	MCF-7	breast:
6	chr21:45230768..45231505-chr21:45337693..45338259,2	K562	blood:
7	chr21:45235244..45235830-chr21:45358693..45359650,3	K562	blood:
8	chr21:45156182..45158069-chr21:45230385..45232004,2	K562	blood:
9	chr21:45228592..45232844-chr21:45283509..45286625,5	MCF-7	breast:
10	chr21:45230580..45232122-chr21:45429937..45432486,2	K562	blood:
11	chr21:45225967..45228845-chr21:45233717..45236389,2	MCF-7	breast:
12	chr21:45230951..45231574-chr21:45358755..45359268,2	MCF-7	breast:
13	chr21:45233461..45235454-chr21:45304310..45305936,2	K562	blood:
14	chr21:45194765..45196421-chr21:45232951..45234586,2	MCF-7	breast:
15	chr21:45238190..45239894-chr21:45283911..45285576,2	MCF-7	breast:
16	chr21:45231740..45232316-chr21:45358668..45359330,2	MCF-7	breast:
17	chr21:45228155..45231014-chr21:45339166..45342042,3	K562	blood:
18	chr21:45230381..45231220-chr21:45557530..45558478,3	MCF-7	breast:
19	chr21:45233457..45236060-chr21:45527747..45529523,2	MCF-7	breast:
20	chr21:45243436..45244800-chr21:45358660..45359547,3	K562	blood:
21	chr21:45234318..45236275-chr21:45396629..45398423,2	MCF-7	breast:
22	chr21:45230337..45232483-chr21:45365596..45368025,2	K562	blood:
23	chr21:45230338..45231005-chr21:45249127..45250028,2	MCF-7	breast:
24	chr21:45229749..45232080-chr21:45430603..45432486,2	K562	blood:
25	chr21:45236177..45236793-chr21:45358789..45359315,2	MCF-7	breast:
26	chr21:45136618..45138870-chr21:45233345..45236189,2	MCF-7	breast:
27	chr21:45230314..45231521-chr21:45358032..45359692,17	K562	blood:
28	chr21:45230202..45231969-chr21:45236707..45239861,3	MCF-7	breast:
29	chr21:45230413..45233240-chr21:45552025..45554993,2	MCF-7	breast:
30	chr21:45240125..45242679-chr21:45283332..45285060,2	MCF-7	breast:
31	chr21:45202942..45205405-chr21:45231641..45234246,2	K562	blood:
32	chr21:45230367..45231197-chr21:45361732..45362367,2	K562	blood:
33	chr21:45238343..45240639-chr21:45244780..45247104,2	MCF-7	breast:
34	chr21:45226284..45237567-chr21:45281864..45289573,19	K562	blood:
35	chr21:45229004..45230702-chr21:45230841..45232657,2	MCF-7	breast:
36	chr21:45231023..45235105-chr21:45244093..45247662,3	MCF-7	breast:
37	chr21:45233535..45235177-chr21:45269820..45272571,2	MCF-7	breast:
38	chr21:45228584..45234568-chr21:45342221..45347972,7	K562	blood:
39	chr21:45210395..45213335-chr21:45233315..45235867,2	MCF-7	breast:
40	chr21:45237201..45239998-chr21:45352077..45354787,2	K562	blood:
41	chr21:45229703..45232642-chr21:45232746..45235107,4	MCF-7	breast:
42	chr21:45230307..45231804-chr21:45394981..45396219,10	MCF-7	breast:
43	chr21:45232650..45235289-chr21:45658982..45661573,2	MCF-7	breast:
44	chr21:45233322..45236346-chr21:45283499..45286249,3	K562	blood:
45	chr21:45225718..45228025-chr21:45244966..45246549,2	MCF-7	breast:
46	chr21:45230529..45232410-chr21:45493973..45496831,2	MCF-7	breast:
47	chr21:45230492..45230995-chr21:45487103..45487981,2	MCF-7	breast:
48	chr21:45233368..45235252-chr21:45401269..45403414,2	MCF-7	breast:
49	chr21:45233269..45236576-chr21:45283514..45285914,3	MCF-7	breast:
50	chr21:45233392..45235627-chr21:45355114..45357134,2	K562	blood:

(count:3 , 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	chr21:45243550-45243999	NONHSAT082461
3	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
ENSG00000160216	chromatin interactions
ENSG00000252606	chromatin interactions
ENSG00000199598	chromatin interactions
ENSG00000141959	chromatin interactions
ENSG00000160223	chromatin interactions
ENSG00000160221	chromatin interactions
ENSG00000215458	chromatin interactions
ENSG00000160213	chromatin interactions
ENSG00000234030	chromatin interactions
ENSG00000160214	chromatin interactions
ENSG00000160218	chromatin interactions

Extended variants
information (count: 833 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:833 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9979356	chr21:45230974-45230975	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs534771278	chr21:45230991-45230992	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs552982066	chr21:45231012-45231013	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs374018318	chr21:45231024-45231025	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs545480702	chr21:45231062-45231063	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs66472331	chr21:45231098-45231099	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs557633988	chr21:45231099-45231100	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs147783188	chr21:45231113-45231114	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs543223841	chr21:45231161-45231162	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs561441223	chr21:45231180-45231181	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs113927252	chr21:45231208-45231209	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs549416422	chr21:45231229-45231230	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs78663285	chr21:45231263-45231264	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs141217557	chr21:45231273-45231274	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs532938405	chr21:45231274-45231275	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs376212226	chr21:45231312-45231313	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs114576820	chr21:45231320-45231321	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs145139911	chr21:45231326-45231327	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs150971290	chr21:45231329-45231330	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs567108054	chr21:45231426-45231427	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs534828999	chr21:45231430-45231431	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs202016049	chr21:45231436-45231437	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs569767186	chr21:45231446-45231447	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs571601054	chr21:45231509-45231510	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs140841351	chr21:45231519-45231520	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs538835339	chr21:45231575-45231576	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs557041570	chr21:45231602-45231603	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs575918574	chr21:45231608-45231609	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs536926074	chr21:45231612-45231613	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs555236794	chr21:45231613-45231614	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs573466760	chr21:45231615-45231616	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs541175973	chr21:45231618-45231619	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs559495277	chr21:45231671-45231672	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs199979391	chr21:45231692-45231693	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs545009990	chr21:45231731-45231732	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs184151961	chr21:45231771-45231772	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs530868614	chr21:45231772-45231773	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs548853813	chr21:45231785-45231786	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs560793119	chr21:45231786-45231787	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs150157777	chr21:45231860-45231861	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs185781481	chr21:45231872-45231873	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs550214902	chr21:45231908-45231909	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs571731675	chr21:45231918-45231919	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs138636004	chr21:45231926-45231927	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs73367288	chr21:45231929-45231930	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs569144589	chr21:45231944-45231945	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs2838392	chr21:45231959-45231960	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs555298214	chr21:45231987-45231988	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs573532064	chr21:45232025-45232026	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs534402788	chr21:45232035-45232036	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	5 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:559 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45211000-45257200	Weak transcription	Right Atrium	heart
2	chr21:45221800-45234200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr21:45223200-45231000	Weak transcription	HSMM	muscle
4	chr21:45223600-45231000	Weak transcription	Psoas Muscle	Psoas
5	chr21:45224600-45231000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr21:45224600-45232200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr21:45224600-45234600	Weak transcription	Hela-S3	cervix
8	chr21:45224800-45231000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr21:45224800-45234200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr21:45224800-45238400	Weak transcription	Aorta	Aorta
11	chr21:45226200-45234200	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr21:45226400-45234400	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr21:45226600-45232200	Weak transcription	Primary hematopoietic stem cells	blood
14	chr21:45226600-45234800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr21:45226800-45232000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr21:45226800-45234400	Weak transcription	Brain Germinal Matrix	brain
17	chr21:45226800-45234800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr21:45227000-45231000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr21:45228400-45231800	Enhancers	Liver	Liver
20	chr21:45228600-45231800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr21:45229000-45231000	Enhancers	Esophagus	oesophagus
22	chr21:45229200-45232600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr21:45229200-45232800	Enhancers	Ovary	ovary
24	chr21:45229400-45231000	Enhancers	HMEC	breast
25	chr21:45229400-45232000	Enhancers	Placenta	Placenta
26	chr21:45229600-45232200	Weak transcription	Thymus	Thymus
27	chr21:45229600-45232800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr21:45229800-45237000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr21:45230000-45231600	Enhancers	Primary B cells from cord blood	blood
30	chr21:45230200-45231000	Enhancers	Spleen	Spleen
31	chr21:45230200-45231200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr21:45230200-45231200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr21:45230200-45231400	Enhancers	K562	blood
34	chr21:45230200-45232400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr21:45230200-45232800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
36	chr21:45230200-45232800	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr21:45230200-45233000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
38	chr21:45230200-45233200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
39	chr21:45230400-45231000	Flanking Active TSS	Brain Anterior Caudate	brain
40	chr21:45230400-45231000	Enhancers	Colon Smooth Muscle	Colon
41	chr21:45230400-45231200	Enhancers	Primary B cells from peripheral blood	blood
42	chr21:45230400-45231200	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr21:45230400-45231200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr21:45230400-45231200	Enhancers	Fetal Heart	heart
45	chr21:45230400-45231200	Enhancers	Fetal Intestine Large	intestine
46	chr21:45230400-45231200	Enhancers	Pancreas	Pancrea
47	chr21:45230400-45231200	Enhancers	Right Ventricle	heart
48	chr21:45230400-45231400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr21:45230400-45231400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr21:45230400-45232600	Enhancers	Fetal Thymus	thymus

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