Variant report

Variant	esv19139
Chromosome Location	chr21:45232877-45241349
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr21:45238457-45238507	K562	blood:	n/a	n/a
2	CEBPB	chr21:45238100-45238206	K562	blood:	n/a	n/a
3	CHD2	chr21:45236692-45236795	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr21:45236660-45236810	GM12865	blood:	n/a	chr21:45236735-45236756 chr21:45236742-45236755 chr21:45236741-45236757 chr21:45236740-45236758
5	CTCF	chr21:45236680-45236830	GM12871	blood:	n/a	chr21:45236735-45236756 chr21:45236742-45236755 chr21:45236741-45236757 chr21:45236740-45236758
6	CTCF	chr21:45236636-45236831	K562	blood:	n/a	chr21:45236735-45236756 chr21:45236742-45236755 chr21:45236741-45236757 chr21:45236740-45236758 chr21:45236638-45236651
7	CTCF	chr21:45236680-45236830	GM12867	blood:	n/a	chr21:45236735-45236756 chr21:45236742-45236755 chr21:45236741-45236757 chr21:45236740-45236758
8	CTCF	chr21:45236640-45236790	HCPEpiC	choroid plexus:	n/a	chr21:45236735-45236756 chr21:45236742-45236755 chr21:45236741-45236757 chr21:45236740-45236758
9	CTCF	chr21:45236620-45236770	K562	blood:	n/a	chr21:45236735-45236756 chr21:45236742-45236755 chr21:45236741-45236757 chr21:45236740-45236758 chr21:45236638-45236651
10	CTCF	chr21:45234208-45234284	Kidney_OC	kidney:	n/a	chr21:45234255-45234268
11	CTCF	chr21:45236669-45236835	GM13977	blood:	n/a	chr21:45236735-45236756 chr21:45236742-45236755 chr21:45236741-45236757 chr21:45236740-45236758
12	CTCF	chr21:45236632-45236837	K562	blood:	n/a	chr21:45236735-45236756 chr21:45236742-45236755 chr21:45236741-45236757 chr21:45236740-45236758 chr21:45236638-45236651
13	CTCF	chr21:45236760-45236910	GM12866	blood:	n/a	n/a
14	CTCF	chr21:45236632-45236868	GM12891	blood:	n/a	chr21:45236735-45236756 chr21:45236742-45236755 chr21:45236741-45236757 chr21:45236740-45236758 chr21:45236638-45236651
15	CTCF	chr21:45236628-45236887	MCF-7	breast:	n/a	chr21:45236735-45236756 chr21:45236742-45236755 chr21:45236741-45236757 chr21:45236740-45236758 chr21:45236638-45236651
16	CTCF	chr21:45236000-45236150	GM12870	blood:	n/a	n/a
17	CTCF	chr21:45236520-45236885	H1-hESC	embryonic stem cell:	n/a	chr21:45236735-45236756 chr21:45236742-45236755 chr21:45236741-45236757 chr21:45236740-45236758 chr21:45236638-45236651
18	CTCF	chr21:45236568-45236901	H1-hESC	embryonic stem cell:	n/a	chr21:45236735-45236756 chr21:45236742-45236755 chr21:45236741-45236757 chr21:45236740-45236758 chr21:45236638-45236651
19	CTCF	chr21:45236680-45236830	HCPEpiC	choroid plexus:	n/a	chr21:45236735-45236756 chr21:45236742-45236755 chr21:45236741-45236757 chr21:45236740-45236758
20	CTCF	chr21:45236060-45236210	HepG2	liver:	n/a	chr21:45236159-45236168
21	CTCF	chr21:45236640-45236790	HBMEC	blood vessel:	n/a	chr21:45236735-45236756 chr21:45236742-45236755 chr21:45236741-45236757 chr21:45236740-45236758
22	CTCF	chr21:45236660-45236810	A549	lung:	n/a	chr21:45236735-45236756 chr21:45236742-45236755 chr21:45236741-45236757 chr21:45236740-45236758
23	CTCF	chr21:45236680-45236830	HMEC	breast:	n/a	chr21:45236735-45236756 chr21:45236742-45236755 chr21:45236741-45236757 chr21:45236740-45236758
24	CTCF	chr21:45236560-45236710	GM12865	blood:	n/a	chr21:45236638-45236651
25	CTCF	chr21:45236649-45236834	A549	lung:	n/a	chr21:45236735-45236756 chr21:45236742-45236755 chr21:45236741-45236757 chr21:45236740-45236758
26	CTCF	chr21:45234240-45234390	AoAF	blood vessel:	n/a	chr21:45234255-45234268
27	CTCF	chr21:45236620-45236770	HCM	heart:	n/a	chr21:45236735-45236756 chr21:45236742-45236755 chr21:45236741-45236757 chr21:45236740-45236758 chr21:45236638-45236651
28	CTCF	chr21:45236680-45236830	GM12875	blood:	n/a	chr21:45236735-45236756 chr21:45236742-45236755 chr21:45236741-45236757 chr21:45236740-45236758
29	CTCF	chr21:45236600-45236750	AG09309	skin:	n/a	chr21:45236638-45236651
30	CTCF	chr21:45236534-45236876	K562	blood:	n/a	chr21:45236735-45236756 chr21:45236742-45236755 chr21:45236741-45236757 chr21:45236740-45236758 chr21:45236638-45236651
31	CTCF	chr21:45236948-45237040	GM12892	blood:	n/a	n/a
32	CTCF	chr21:45236640-45236850	GM19240	blood:	n/a	chr21:45236735-45236756 chr21:45236742-45236755 chr21:45236741-45236757 chr21:45236740-45236758
33	CTCF	chr21:45236640-45236790	GM12868	blood:	n/a	chr21:45236735-45236756 chr21:45236742-45236755 chr21:45236741-45236757 chr21:45236740-45236758
34	CTCF	chr21:45236660-45236810	GM12872	blood:	n/a	chr21:45236735-45236756 chr21:45236742-45236755 chr21:45236741-45236757 chr21:45236740-45236758
35	CTCF	chr21:45236589-45236919	H1-hESC	embryonic stem cell:	n/a	chr21:45236735-45236756 chr21:45236742-45236755 chr21:45236741-45236757 chr21:45236740-45236758 chr21:45236638-45236651
36	CTCF	chr21:45236620-45236770	Caco-2	colon:	n/a	chr21:45236735-45236756 chr21:45236742-45236755 chr21:45236741-45236757 chr21:45236740-45236758 chr21:45236638-45236651
37	CTCF	chr21:45236550-45236904	HepG2	liver:	n/a	chr21:45236735-45236756 chr21:45236742-45236755 chr21:45236741-45236757 chr21:45236740-45236758 chr21:45236638-45236651
38	CTCF	chr21:45236080-45236230	HBMEC	blood vessel:	n/a	chr21:45236159-45236168
39	CTCF	chr21:45236640-45236790	AG04449	skin:	n/a	chr21:45236735-45236756 chr21:45236742-45236755 chr21:45236741-45236757 chr21:45236740-45236758
40	CTCF	chr21:45236595-45236823	HepG2	liver:	n/a	chr21:45236735-45236756 chr21:45236742-45236755 chr21:45236741-45236757 chr21:45236740-45236758 chr21:45236638-45236651
41	CTCF	chr21:45236640-45236790	HepG2	liver:	n/a	chr21:45236735-45236756 chr21:45236742-45236755 chr21:45236741-45236757 chr21:45236740-45236758
42	CTCF	chr21:45236740-45236890	GM12878	blood:	n/a	chr21:45236742-45236755 chr21:45236741-45236757 chr21:45236740-45236758
43	CTCF	chr21:45236680-45236830	SK-N-SH_RA	brain:	n/a	chr21:45236735-45236756 chr21:45236742-45236755 chr21:45236741-45236757 chr21:45236740-45236758
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	chr21:45236636-45236858	GM19239	blood:	n/a	chr21:45236735-45236756 chr21:45236742-45236755 chr21:45236741-45236757 chr21:45236740-45236758 chr21:45236638-45236651
46	CTCF	chr21:45236612-45236884	GM12892	blood:	n/a	chr21:45236735-45236756 chr21:45236742-45236755 chr21:45236741-45236757 chr21:45236740-45236758 chr21:45236638-45236651
47	CTCF	chr21:45236605-45236896	MCF-7	breast:	n/a	chr21:45236735-45236756 chr21:45236742-45236755 chr21:45236741-45236757 chr21:45236740-45236758 chr21:45236638-45236651
48	CTCF	chr21:45236620-45236770	SK-N-SH_RA	brain:	n/a	chr21:45236735-45236756 chr21:45236742-45236755 chr21:45236741-45236757 chr21:45236740-45236758 chr21:45236638-45236651
49	CTCF	chr21:45236117-45236292	H1-hESC	embryonic stem cell:	n/a	chr21:45236159-45236168
50	CTCF	chr21:45236720-45236870	GM06990	blood:	n/a	chr21:45236735-45236756 chr21:45236742-45236755 chr21:45236741-45236757 chr21:45236740-45236758

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:45233662-45233712	ovcar-3	ovarian:	n/a
2	chr21:45233508-45233558	GM12892	blood:	n/a
3	chr21:45233662-45233712	HUVEC	blood vessel:	n/a
4	chr21:45233508-45233558	AG09319	gingival:	n/a
5	chr21:45233662-45233712	Jurkat	blood:	n/a
6	chr21:45233508-45233558	HEEpiC	esophagus:	n/a
7	chr21:45233662-45233712	AoSMC	blood vessel:	n/a
8	chr21:45233662-45233712	MCF10A-Er-Src	breast:	n/a
9	chr21:45233662-45233712	SAEC	small airway:	n/a
10	chr21:45233508-45233558	NT2-D1	testis:	n/a
11	chr21:45233508-45233558	SKMC	muscle:	n/a
12	chr21:45233662-45233712	AG10803	skin:	n/a
13	chr21:45233662-45233712	HCM	heart:	n/a
14	chr21:45233662-45233712	U87	brain:	n/a
15	chr21:45233585-45233635	T-47D	breast:	n/a
16	chr21:45233585-45233635	HCT-116	colon:	n/a
17	chr21:45233662-45233712	HCT-116	colon:	n/a
18	chr21:45233662-45233712	MCF-7	breast:	n/a
19	chr21:45233508-45233558	GM06990	blood:	n/a
20	chr21:45233662-45233712	PrEC	prostate:	n/a
21	chr21:45233585-45233635	HUVEC	blood vessel:	n/a
22	chr21:45233662-45233712	HMEC	breast:	n/a
23	chr21:45233508-45233558	HUVEC	blood vessel:	n/a
24	chr21:45233662-45233712	HCPEpiC	choroid plexus:	n/a
25	chr21:45233508-45233558	NH-A	brain:	n/a
26	chr21:45233585-45233635	A549	lung:	n/a
27	chr21:45233585-45233635	HPAEpiC	pulmonary alveolar:	n/a
28	chr21:45233662-45233712	HepG2	liver:	n/a
29	chr21:45233662-45233712	IMR90	lung:	fetal
30	chr21:45233508-45233558	HIPEpiC	eye:	n/a
31	chr21:45233585-45233635	HCM	heart:	n/a
32	chr21:45233508-45233558	NHBE	bronchial:	n/a
33	chr21:45233662-45233712	PANC-1	pancreas:	n/a
34	chr21:45233585-45233635	HCPEpiC	choroid plexus:	n/a
35	chr21:45233508-45233558	HL-60	blood:	n/a
36	chr21:45233585-45233635	HRPEpiC	eye:	n/a
37	chr21:45233508-45233558	SK-N-MC	brain:	n/a
38	chr21:45233662-45233712	NH-A	brain:	n/a
39	chr21:45233662-45233712	NB4	blood:	n/a
40	chr21:45233662-45233712	GM12892	blood:	n/a
41	chr21:45233662-45233712	SK-N-SH_RA	brain:	n/a
42	chr21:45233585-45233635	PFSK-1	brain:	n/a
43	chr21:45233662-45233712	LNCaP	prostate:	n/a
44	chr21:45233508-45233558	U87	brain:	n/a
45	chr21:45233508-45233558	MCF10A-Er-Src	breast:	n/a
46	chr21:45233662-45233712	NHBE	bronchial:	n/a
47	chr21:45233508-45233558	AG09309	skin:	n/a
48	chr21:45233585-45233635	HCF	heart:	n/a
49	chr21:45233508-45233558	SK-N-SH	brain:	n/a
50	chr21:45233508-45233558	HCF	heart:	n/a

No.	Distal block	Cell Line	Cell type
1	chr21:45202942..45205405-chr21:45231641..45234246,2	K562	blood:
2	chr21:45238123..45243699-chr21:45249780..45254219,5	K562	blood:
3	chr21:45194765..45196421-chr21:45232951..45234586,2	MCF-7	breast:
4	chr21:45236743..45238556-chr21:45284722..45286345,2	MCF-7	breast:
5	chr21:45228584..45234568-chr21:45342221..45347972,7	K562	blood:
6	chr21:45192905..45195528-chr21:45235425..45238416,2	MCF-7	breast:
7	chr21:45136618..45138870-chr21:45233345..45236189,2	MCF-7	breast:
8	chr21:45236177..45236793-chr21:45358789..45359315,2	MCF-7	breast:
9	chr21:45234318..45236275-chr21:45396629..45398423,2	MCF-7	breast:
10	chr21:45233368..45235252-chr21:45401269..45403414,2	MCF-7	breast:
11	chr21:45233535..45235177-chr21:45269820..45272571,2	MCF-7	breast:
12	chr21:45238190..45239894-chr21:45283911..45285576,2	MCF-7	breast:
13	chr21:45233269..45236576-chr21:45283514..45285914,3	MCF-7	breast:
14	chr21:45237201..45239998-chr21:45352077..45354787,2	K562	blood:
15	chr21:45240125..45242679-chr21:45283332..45285060,2	MCF-7	breast:
16	chr21:45230413..45233240-chr21:45552025..45554993,2	MCF-7	breast:
17	chr21:45226367..45233141-chr21:45284145..45288607,11	K562	blood:
18	chr21:45233511..45236046-chr21:45357246..45359137,3	K562	blood:
19	chr21:45235244..45235830-chr21:45358693..45359650,3	K562	blood:
20	chr21:45230202..45231969-chr21:45236707..45239861,3	MCF-7	breast:
21	chr21:45233511..45237736-chr21:45356519..45359137,5	K562	blood:
22	chr21:45210395..45213335-chr21:45233315..45235867,2	MCF-7	breast:
23	chr21:45232650..45235289-chr21:45658982..45661573,2	MCF-7	breast:
24	chr21:45229703..45232642-chr21:45232746..45235107,4	MCF-7	breast:
25	chr21:45233457..45236060-chr21:45527747..45529523,2	MCF-7	breast:
26	chr21:45233461..45235454-chr21:45304310..45305936,2	K562	blood:
27	chr21:45238343..45240639-chr21:45244780..45247104,2	MCF-7	breast:
28	chr21:45233392..45235627-chr21:45355114..45357134,2	K562	blood:
29	chr21:45233056..45235969-chr21:45284211..45286371,2	MCF-7	breast:
30	chr21:45226284..45237567-chr21:45281864..45289573,19	K562	blood:
31	chr21:45225967..45228845-chr21:45233717..45236389,2	MCF-7	breast:
32	chr21:45236395..45237208-chr21:45348998..45349676,2	MCF-7	breast:
33	chr21:45233322..45236346-chr21:45283499..45286249,3	K562	blood:

Variant related genes	Relation type
ENSG00000215458	TF binding region
ENSG00000215458	CpG island
ENSG00000215458	chromatin interactions
ENSG00000160214	chromatin interactions
ENSG00000160223	chromatin interactions
ENSG00000160221	chromatin interactions
ENSG00000160216	chromatin interactions
ENSG00000234030	chromatin interactions
ENSG00000160213	chromatin interactions

Extended variants
information (count: 421 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:421 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538062400	chr21:45232897-45232898	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs6518324	chr21:45232950-45232951	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs369433144	chr21:45232970-45232971	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs575840271	chr21:45233003-45233004	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs568630791	chr21:45233030-45233031	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs374144366	chr21:45233079-45233080	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs377148804	chr21:45233118-45233119	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs554179997	chr21:45233141-45233142	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs543019340	chr21:45233209-45233210	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs533609940	chr21:45233218-45233219	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs572498826	chr21:45233256-45233257	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs561169424	chr21:45233278-45233279	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs77485273	chr21:45233279-45233280	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs2838393	chr21:45233318-45233319	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs577028191	chr21:45233327-45233328	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs544093141	chr21:45233328-45233329	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs562650615	chr21:45233356-45233357	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs2838394	chr21:45233500-45233501	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs542333875	chr21:45233513-45233514	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs560518260	chr21:45233520-45233521	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs527685736	chr21:45233554-45233555	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs552501594	chr21:45233557-45233558	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs376055300	chr21:45233619-45233620	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs564639434	chr21:45233637-45233638	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs58549917	chr21:45233667-45233668	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs550137158	chr21:45233721-45233722	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs568301479	chr21:45233739-45233740	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs191031144	chr21:45233746-45233747	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs547881188	chr21:45233753-45233754	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs566183957	chr21:45233796-45233797	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs182978877	chr21:45233826-45233827	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs573184340	chr21:45233830-45233831	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs57295978	chr21:45233831-45233832	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs558494439	chr21:45233854-45233855	Enhancers Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs577086458	chr21:45233855-45233856	Enhancers Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs538126544	chr21:45233876-45233877	Enhancers Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs56387943	chr21:45233903-45233904	Enhancers Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs574681354	chr21:45233935-45233936	Enhancers Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs386819084	chr21:45233960-45233961	Enhancers Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs7276362	chr21:45233961-45233962	Enhancers Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs141514870	chr21:45233971-45233972	Enhancers Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs377170541	chr21:45233977-45233978	Enhancers Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs377011013	chr21:45234006-45234007	Enhancers Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs192091350	chr21:45234012-45234013	Enhancers Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs386819085	chr21:45234013-45234014	Enhancers Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs183125296	chr21:45234016-45234017	Enhancers Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs187592180	chr21:45234028-45234029	Enhancers Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs550053741	chr21:45234033-45234034	Enhancers Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs561994349	chr21:45234034-45234035	Enhancers Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs529452144	chr21:45234036-45234037	Enhancers Weak transcription	Chromatin interactive region	6 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:264 , 50 per page) page: 1 2 3 4 5 6

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	chr21:45224600-45234600	Weak transcription	Hela-S3	cervix
4	chr21:45224800-45234200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr21:45224800-45238400	Weak transcription	Aorta	Aorta
6	chr21:45226200-45234200	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr21:45226400-45234400	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr21:45226600-45234800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr21:45226800-45234400	Weak transcription	Brain Germinal Matrix	brain
10	chr21:45226800-45234800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr21:45229800-45237000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr21:45230200-45233000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr21:45230200-45233200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr21:45230800-45233200	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr21:45230800-45233200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr21:45230800-45233200	Enhancers	Lung	lung
17	chr21:45231000-45234400	Weak transcription	Fetal Brain Male	brain
18	chr21:45231200-45234200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr21:45231200-45234200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr21:45231200-45234200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr21:45231200-45234200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr21:45231200-45234200	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr21:45231200-45234400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr21:45231200-45234400	Weak transcription	Pancreas	Pancrea
25	chr21:45231200-45235800	Weak transcription	Right Ventricle	heart
26	chr21:45231200-45236200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr21:45231400-45233800	Enhancers	Spleen	Spleen
28	chr21:45231400-45234600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr21:45231400-45234600	Weak transcription	Fetal Intestine Small	intestine
30	chr21:45231400-45234600	Weak transcription	K562	blood
31	chr21:45232200-45233400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr21:45232200-45234600	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr21:45232200-45236200	Enhancers	Placenta	Placenta
34	chr21:45232400-45234000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr21:45232400-45234200	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr21:45232400-45234600	Weak transcription	A549	lung
37	chr21:45232400-45235600	Enhancers	Esophagus	oesophagus
38	chr21:45232600-45233000	Enhancers	Brain Hippocampus Middle	brain
39	chr21:45232600-45233200	Enhancers	Rectal Mucosa Donor 29	rectum
40	chr21:45232600-45233400	Enhancers	HMEC	breast
41	chr21:45232600-45234200	Weak transcription	Fetal Thymus	thymus
42	chr21:45232600-45234400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr21:45232600-45234600	Weak transcription	Gastric	stomach
44	chr21:45232600-45234800	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr21:45232600-45235000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr21:45232600-45235600	Enhancers	Colonic Mucosa	Colon
47	chr21:45232600-45236000	Enhancers	Stomach Mucosa	stomach
48	chr21:45232600-45237200	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr21:45232800-45233000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr21:45232800-45233400	Enhancers	NHEK	skin

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