Variant report

Variant	esv3401820
Chromosome Location	chr21:45234149-45236697
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	CHD2	chr21:45236692-45236795	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr21:45236660-45236810	HBMEC	blood vessel:	n/a	chr21:45236735-45236756 chr21:45236742-45236755 chr21:45236741-45236757 chr21:45236740-45236758
3	CTCF	chr21:45236628-45236887	MCF-7	breast:	n/a	chr21:45236735-45236756 chr21:45236742-45236755 chr21:45236741-45236757 chr21:45236740-45236758 chr21:45236638-45236651
4	CTCF	chr21:45236640-45236790	GM12874	blood:	n/a	chr21:45236735-45236756 chr21:45236742-45236755 chr21:45236741-45236757 chr21:45236740-45236758
5	CTCF	chr21:45236660-45236810	HRPEpiC	eye:	n/a	chr21:45236735-45236756 chr21:45236742-45236755 chr21:45236741-45236757 chr21:45236740-45236758
6	CTCF	chr21:45236569-45236905	GM12878	blood:	n/a	chr21:45236735-45236756 chr21:45236742-45236755 chr21:45236741-45236757 chr21:45236740-45236758 chr21:45236638-45236651
7	CTCF	chr21:45236680-45236830	HCPEpiC	choroid plexus:	n/a	chr21:45236735-45236756 chr21:45236742-45236755 chr21:45236741-45236757 chr21:45236740-45236758
8	CTCF	chr21:45236636-45236858	GM19239	blood:	n/a	chr21:45236735-45236756 chr21:45236742-45236755 chr21:45236741-45236757 chr21:45236740-45236758 chr21:45236638-45236651
9	CTCF	chr21:45236620-45236770	MCF-7	breast:	n/a	chr21:45236735-45236756 chr21:45236742-45236755 chr21:45236741-45236757 chr21:45236740-45236758 chr21:45236638-45236651
10	CTCF	chr21:45236620-45236770	Caco-2	colon:	n/a	chr21:45236735-45236756 chr21:45236742-45236755 chr21:45236741-45236757 chr21:45236740-45236758 chr21:45236638-45236651
11	CTCF	chr21:45236080-45236230	HBMEC	blood vessel:	n/a	chr21:45236159-45236168
12	CTCF	chr21:45236636-45236831	K562	blood:	n/a	chr21:45236735-45236756 chr21:45236742-45236755 chr21:45236741-45236757 chr21:45236740-45236758 chr21:45236638-45236651
13	CTCF	chr21:45236660-45236810	A549	lung:	n/a	chr21:45236735-45236756 chr21:45236742-45236755 chr21:45236741-45236757 chr21:45236740-45236758
14	CTCF	chr21:45236680-45236830	GM12878	blood:	n/a	chr21:45236735-45236756 chr21:45236742-45236755 chr21:45236741-45236757 chr21:45236740-45236758
15	CTCF	chr21:45236660-45236810	GM12865	blood:	n/a	chr21:45236735-45236756 chr21:45236742-45236755 chr21:45236741-45236757 chr21:45236740-45236758
16	CTCF	chr21:45236680-45236830	GM12875	blood:	n/a	chr21:45236735-45236756 chr21:45236742-45236755 chr21:45236741-45236757 chr21:45236740-45236758
17	CTCF	chr21:45236540-45236690	HFF	foreskin:	n/a	chr21:45236638-45236651
18	CTCF	chr21:45236639-45236857	GM19238	blood:	n/a	chr21:45236735-45236756 chr21:45236742-45236755 chr21:45236741-45236757 chr21:45236740-45236758
19	CTCF	chr21:45236660-45236810	HepG2	liver:	n/a	chr21:45236735-45236756 chr21:45236742-45236755 chr21:45236741-45236757 chr21:45236740-45236758
20	CTCF	chr21:45236605-45236896	MCF-7	breast:	n/a	chr21:45236735-45236756 chr21:45236742-45236755 chr21:45236741-45236757 chr21:45236740-45236758 chr21:45236638-45236651
21	CTCF	chr21:45236642-45236850	MCF-7	breast:	n/a	chr21:45236735-45236756 chr21:45236742-45236755 chr21:45236741-45236757 chr21:45236740-45236758
22	CTCF	chr21:45236655-45236832	NHEK	skin:	n/a	chr21:45236735-45236756 chr21:45236742-45236755 chr21:45236741-45236757 chr21:45236740-45236758
23	CTCF	chr21:45236678-45236810	HepG2	liver:	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	chr21:45236640-45236790	NB4	blood:	n/a	chr21:45236735-45236756 chr21:45236742-45236755 chr21:45236741-45236757 chr21:45236740-45236758
26	CTCF	chr21:45236689-45236783	GM10266	blood:	n/a	chr21:45236735-45236756 chr21:45236742-45236755 chr21:45236741-45236757 chr21:45236740-45236758
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	chr21:45236160-45236310	SK-N-SH_RA	brain:	n/a	chr21:45236289-45236297
29	CTCF	chr21:45236649-45236860	MCF-7	breast:	n/a	chr21:45236735-45236756 chr21:45236742-45236755 chr21:45236741-45236757 chr21:45236740-45236758
30	CTCF	chr21:45236600-45236750	AG09309	skin:	n/a	chr21:45236638-45236651
31	CTCF	chr21:45236680-45236830	GM12873	blood:	n/a	chr21:45236735-45236756 chr21:45236742-45236755 chr21:45236741-45236757 chr21:45236740-45236758
32	CTCF	chr21:45236160-45236310	GM12874	blood:	n/a	chr21:45236289-45236297
33	CTCF	chr21:45236640-45236790	HCPEpiC	choroid plexus:	n/a	chr21:45236735-45236756 chr21:45236742-45236755 chr21:45236741-45236757 chr21:45236740-45236758
34	CTCF	chr21:45236550-45236904	HepG2	liver:	n/a	chr21:45236735-45236756 chr21:45236742-45236755 chr21:45236741-45236757 chr21:45236740-45236758 chr21:45236638-45236651
35	CTCF	chr21:45236595-45236823	HepG2	liver:	n/a	chr21:45236735-45236756 chr21:45236742-45236755 chr21:45236741-45236757 chr21:45236740-45236758 chr21:45236638-45236651
36	CTCF	chr21:45236040-45236190	HEK293	kidney:	n/a	chr21:45236159-45236168
37	CTCF	chr21:45236676-45236851	ProgFib	skin:	n/a	chr21:45236735-45236756 chr21:45236742-45236755 chr21:45236741-45236757 chr21:45236740-45236758
38	CTCF	chr21:45236180-45236330	GM12878	blood:	n/a	chr21:45236289-45236297
39	CTCF	chr21:45236440-45236590	K562	blood:	n/a	n/a
40	CTCF	chr21:45236611-45236870	Hela-S3	cervix:	n/a	chr21:45236735-45236756 chr21:45236742-45236755 chr21:45236741-45236757 chr21:45236740-45236758 chr21:45236638-45236651
41	CTCF	chr21:45236640-45236850	GM19240	blood:	n/a	chr21:45236735-45236756 chr21:45236742-45236755 chr21:45236741-45236757 chr21:45236740-45236758
42	CTCF	chr21:45236620-45236770	GM12872	blood:	n/a	chr21:45236735-45236756 chr21:45236742-45236755 chr21:45236741-45236757 chr21:45236740-45236758 chr21:45236638-45236651
43	CTCF	chr21:45234140-45234290	AoAF	blood vessel:	n/a	chr21:45234255-45234268
44	CTCF	chr21:45236640-45236790	AG09319	gingival:	n/a	chr21:45236735-45236756 chr21:45236742-45236755 chr21:45236741-45236757 chr21:45236740-45236758
45	CTCF	chr21:45236000-45236150	GM12870	blood:	n/a	n/a
46	CTCF	chr21:45236620-45236770	GM12874	blood:	n/a	chr21:45236735-45236756 chr21:45236742-45236755 chr21:45236741-45236757 chr21:45236740-45236758 chr21:45236638-45236651
47	CTCF	chr21:45236620-45236770	GM12873	blood:	n/a	chr21:45236735-45236756 chr21:45236742-45236755 chr21:45236741-45236757 chr21:45236740-45236758 chr21:45236638-45236651
48	CTCF	chr21:45236534-45236876	K562	blood:	n/a	chr21:45236735-45236756 chr21:45236742-45236755 chr21:45236741-45236757 chr21:45236740-45236758 chr21:45236638-45236651
49	CTCF	chr21:45236660-45236810	GM12864	blood:	n/a	chr21:45236735-45236756 chr21:45236742-45236755 chr21:45236741-45236757 chr21:45236740-45236758
50	CTCF	chr21:45236640-45236790	HRE	kidney:	n/a	chr21:45236735-45236756 chr21:45236742-45236755 chr21:45236741-45236757 chr21:45236740-45236758

No.	Distal block	Cell Line	Cell type
1	chr21:45136618..45138870-chr21:45233345..45236189,2	MCF-7	breast:
2	chr21:45228584..45234568-chr21:45342221..45347972,7	K562	blood:
3	chr21:45229703..45232642-chr21:45232746..45235107,4	MCF-7	breast:
4	chr21:45234318..45236275-chr21:45396629..45398423,2	MCF-7	breast:
5	chr21:45233056..45235969-chr21:45284211..45286371,2	MCF-7	breast:
6	chr21:45233322..45236346-chr21:45283499..45286249,3	K562	blood:
7	chr21:45233511..45236046-chr21:45357246..45359137,3	K562	blood:
8	chr21:45210395..45213335-chr21:45233315..45235867,2	MCF-7	breast:
9	chr21:45233461..45235454-chr21:45304310..45305936,2	K562	blood:
10	chr21:45235244..45235830-chr21:45358693..45359650,3	K562	blood:
11	chr21:45232650..45235289-chr21:45658982..45661573,2	MCF-7	breast:
12	chr21:45226284..45237567-chr21:45281864..45289573,19	K562	blood:
13	chr21:45233392..45235627-chr21:45355114..45357134,2	K562	blood:
14	chr21:45236395..45237208-chr21:45348998..45349676,2	MCF-7	breast:
15	chr21:45233457..45236060-chr21:45527747..45529523,2	MCF-7	breast:
16	chr21:45233511..45237736-chr21:45356519..45359137,5	K562	blood:
17	chr21:45233269..45236576-chr21:45283514..45285914,3	MCF-7	breast:
18	chr21:45192905..45195528-chr21:45235425..45238416,2	MCF-7	breast:
19	chr21:45202942..45205405-chr21:45231641..45234246,2	K562	blood:
20	chr21:45236177..45236793-chr21:45358789..45359315,2	MCF-7	breast:
21	chr21:45194765..45196421-chr21:45232951..45234586,2	MCF-7	breast:
22	chr21:45233368..45235252-chr21:45401269..45403414,2	MCF-7	breast:
23	chr21:45225967..45228845-chr21:45233717..45236389,2	MCF-7	breast:
24	chr21:45233535..45235177-chr21:45269820..45272571,2	MCF-7	breast:

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

Extended variants
information (count: 125 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:125 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73224979	chr21:45234151-45234152	Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs73906629	chr21:45234200-45234201	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs553979129	chr21:45234206-45234207	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs375576415	chr21:45234222-45234223	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs572475078	chr21:45234232-45234233	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs546265022	chr21:45234238-45234239	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs73906630	chr21:45234253-45234254	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs79651790	chr21:45234257-45234258	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs551608718	chr21:45234334-45234335	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs566304509	chr21:45234335-45234336	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs562053577	chr21:45234348-45234349	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs144137260	chr21:45234376-45234377	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs541250901	chr21:45234382-45234383	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs559877453	chr21:45234395-45234396	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs571428361	chr21:45234406-45234407	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs55825369	chr21:45234414-45234415	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs56177442	chr21:45234497-45234498	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs570404710	chr21:45234499-45234500	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs73906631	chr21:45234533-45234534	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs147341249	chr21:45234534-45234535	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs539221693	chr21:45234552-45234553	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs139456135	chr21:45234559-45234560	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs535723097	chr21:45234562-45234563	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs554042406	chr21:45234580-45234581	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs55663506	chr21:45234634-45234635	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs539596504	chr21:45234662-45234663	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs571464394	chr21:45234698-45234699	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs113618461	chr21:45234719-45234720	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs576421316	chr21:45234736-45234737	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs11089098	chr21:45234744-45234745	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs543181894	chr21:45234771-45234772	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs555313619	chr21:45234779-45234780	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs2838395	chr21:45234806-45234807	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs541315056	chr21:45234815-45234816	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs146323590	chr21:45234827-45234828	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs374990889	chr21:45234828-45234829	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs11909278	chr21:45234894-45234895	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs540642214	chr21:45234912-45234913	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs545231236	chr21:45235013-45235014	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs564220591	chr21:45235052-45235053	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs531404573	chr21:45235061-45235062	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs11909913	chr21:45235081-45235082	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs568045855	chr21:45235082-45235083	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs529247577	chr21:45235096-45235097	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs10854487	chr21:45235104-45235105	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs28392681	chr21:45235120-45235121	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs185727268	chr21:45235139-45235140	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs188987510	chr21:45235149-45235150	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs112844583	chr21:45235166-45235167	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs192811485	chr21:45235184-45235185	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 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:175 , 50 per page) page: 1 2 3 4

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	chr21:45231000-45234400	Weak transcription	Fetal Brain Male	brain
13	chr21:45231200-45234200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr21:45231200-45234200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr21:45231200-45234200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr21:45231200-45234200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr21:45231200-45234200	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr21:45231200-45234400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr21:45231200-45234400	Weak transcription	Pancreas	Pancrea
20	chr21:45231200-45235800	Weak transcription	Right Ventricle	heart
21	chr21:45231200-45236200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr21:45231400-45234600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr21:45231400-45234600	Weak transcription	Fetal Intestine Small	intestine
24	chr21:45231400-45234600	Weak transcription	K562	blood
25	chr21:45232200-45234600	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr21:45232200-45236200	Enhancers	Placenta	Placenta
27	chr21:45232400-45234200	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr21:45232400-45234600	Weak transcription	A549	lung
29	chr21:45232400-45235600	Enhancers	Esophagus	oesophagus
30	chr21:45232600-45234200	Weak transcription	Fetal Thymus	thymus
31	chr21:45232600-45234400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr21:45232600-45234600	Weak transcription	Gastric	stomach
33	chr21:45232600-45234800	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr21:45232600-45235000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr21:45232600-45235600	Enhancers	Colonic Mucosa	Colon
36	chr21:45232600-45236000	Enhancers	Stomach Mucosa	stomach
37	chr21:45232600-45237200	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr21:45232800-45234200	Weak transcription	Brain Anterior Caudate	brain
39	chr21:45232800-45234200	Weak transcription	Ovary	ovary
40	chr21:45232800-45234200	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr21:45232800-45234400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr21:45232800-45234400	Weak transcription	HepG2	liver
43	chr21:45232800-45234800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr21:45232800-45235200	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr21:45232800-45236600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr21:45232800-45236600	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr21:45232800-45237000	Weak transcription	Liver	Liver
48	chr21:45232800-45238400	Weak transcription	Brain Substantia Nigra	brain
49	chr21:45232800-45241400	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr21:45232800-45244000	Weak transcription	Brain Angular Gyrus	brain

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