Variant report

Variant	nsv459259
Chromosome Location	chr21:40571246-40701169
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1934)
CpG islands
(count:735)
Chromatin interactive
region (count:288)
LncRNA
region (count:14)
Mature miRNA
region (count: 0)
miRNA target
sites (count:4)

(count:1934 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr21:40582224-40582266	K562	blood:	n/a	n/a
2	ARID3A	chr21:40684160-40684495	K562	blood:	n/a	n/a
3	ARID3A	chr21:40690010-40690377	K562	blood:	n/a	n/a
4	ARID3A	chr21:40689214-40689807	K562	blood:	n/a	n/a
5	ARID3A	chr21:40684237-40684587	HepG2	liver:	n/a	n/a
6	ARID3A	chr21:40685459-40685944	HepG2	liver:	n/a	n/a
7	ARID3A	chr21:40685486-40686045	K562	blood:	n/a	n/a
8	ARID3A	chr21:40580987-40581670	K562	blood:	n/a	n/a
9	ARID3A	chr21:40576116-40576341	HepG2	liver:	n/a	n/a
10	ATF1	chr21:40653096-40653113	K562	blood:	n/a	n/a
11	ATF1	chr21:40580881-40581207	K562	blood:	n/a	n/a
12	ATF1	chr21:40684204-40684554	K562	blood:	n/a	n/a
13	ATF1	chr21:40689233-40689841	K562	blood:	n/a	n/a
14	ATF2	chr21:40686129-40686473	GM12878	blood:	n/a	n/a
15	ATF2	chr21:40686170-40686911	GM12878	blood:	n/a	n/a
16	ATF2	chr21:40685478-40685788	H1-hESC	embryonic stem cell:	n/a	n/a
17	ATF2	chr21:40685445-40685848	GM12878	blood:	n/a	n/a
18	ATF2	chr21:40685801-40686058	H1-hESC	embryonic stem cell:	n/a	n/a
19	ATF3	chr21:40685537-40685975	A549	lung:	n/a	n/a
20	ATF3	chr21:40635384-40635655	K562	blood:	n/a	n/a
21	ATF3	chr21:40580835-40581224	K562	blood:	n/a	n/a
22	ATF3	chr21:40635321-40635834	HCT-116	colon:	n/a	n/a
23	ATF3	chr21:40685702-40686024	K562	blood:	n/a	n/a
24	BACH1	chr21:40683959-40684349	K562	blood:	n/a	n/a
25	BACH1	chr21:40684507-40684547	H1-hESC	embryonic stem cell:	n/a	n/a
26	BACH1	chr21:40685595-40685978	K562	blood:	n/a	n/a
27	BACH1	chr21:40653251-40653461	H1-hESC	embryonic stem cell:	n/a	n/a
28	BACH1	chr21:40580860-40581407	K562	blood:	n/a	n/a
29	BACH1	chr21:40691460-40692328	K562	blood:	n/a	n/a
30	BACH1	chr21:40685672-40686138	H1-hESC	embryonic stem cell:	n/a	n/a
31	BACH1	chr21:40686590-40686830	K562	blood:	n/a	n/a
32	BATF	chr21:40686512-40686785	GM12878	blood:	n/a	n/a
33	BATF	chr21:40686500-40686798	GM12878	blood:	n/a	n/a
34	BCL3	chr21:40685633-40686059	GM12878	blood:	n/a	chr21:40685860-40685873 chr21:40685852-40685865
35	BCLAF1	chr21:40685340-40686135	GM12878	blood:	n/a	chr21:40685860-40685873 chr21:40685852-40685865
36	BCLAF1	chr21:40685291-40686106	GM12878	blood:	n/a	chr21:40685860-40685873 chr21:40685852-40685865
37	BHLHE40	chr21:40685487-40686202	HepG2	liver:	n/a	chr21:40685751-40685767 chr21:40685847-40685863
38	BHLHE40	chr21:40689081-40689880	K562	blood:	n/a	n/a
39	BHLHE40	chr21:40685454-40686741	GM12878	blood:	n/a	chr21:40685751-40685767 chr21:40685847-40685863
40	BHLHE40	chr21:40685118-40686771	K562	blood:	n/a	chr21:40685139-40685155 chr21:40685751-40685767 chr21:40685847-40685863
41	BHLHE40	chr21:40684135-40684760	K562	blood:	n/a	n/a
42	BHLHE40	chr21:40684117-40684584	GM12878	blood:	n/a	n/a
43	BRCA1	chr21:40635354-40635700	Hela-S3	cervix:	n/a	n/a
44	BRCA1	chr21:40685426-40686178	GM12878	blood:	n/a	n/a
45	BRCA1	chr21:40685589-40685909	HepG2	liver:	n/a	n/a
46	BRCA1	chr21:40684271-40684587	Hela-S3	cervix:	n/a	n/a
47	BRCA1	chr21:40685535-40685880	Hela-S3	cervix:	n/a	n/a
48	CBX3	chr21:40686166-40686912	K562	blood:	n/a	n/a
49	CBX3	chr21:40691771-40692525	K562	blood:	n/a	n/a
50	CBX3	chr21:40685309-40686130	HCT-116	colon:	n/a	n/a

(count:735 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:40685208-40685258	MCF-7	breast:	n/a
2	chr21:40684269-40684319	HCM	heart:	n/a
3	chr21:40686185-40686235	HNPCEpiC	eye:	n/a
4	chr21:40685208-40685258	MCF-7	breast:	n/a
5	chr21:40684269-40684319	HCM	heart:	n/a
6	chr21:40686185-40686235	HNPCEpiC	eye:	n/a
7	chr21:40669669-40669719	HCF	heart:	n/a
8	chr21:40685679-40685729	GM12892	blood:	n/a
9	chr21:40669669-40669719	LNCaP	prostate:	n/a
10	chr21:40685342-40685392	GM06990	blood:	n/a
11	chr21:40686621-40686671	BJ	skin:	n/a
12	chr21:40684731-40684781	MCF-7	breast:	n/a
13	chr21:40685208-40685258	ovcar-3	ovarian:	n/a
14	chr21:40689521-40689571	H1-hESC	embryonic stem cell:	embryo
15	chr21:40684731-40684781	BJ	skin:	n/a
16	chr21:40686185-40686235	K562	blood:	n/a
17	chr21:40685342-40685392	HMEC	breast:	n/a
18	chr21:40684751-40684801	K562	blood:	n/a
19	chr21:40669669-40669719	GM19239	blood:	n/a
20	chr21:40685342-40685392	AG04449	skin:	fetal
21	chr21:40686185-40686235	BJ	skin:	n/a
22	chr21:40684731-40684781	AG04449	skin:	fetal
23	chr21:40686621-40686671	ovcar-3	ovarian:	n/a
24	chr21:40684751-40684801	BE2_C	brain:	n/a
25	chr21:40685679-40685729	ECC-1	luminal epithelium:	n/a
26	chr21:40684269-40684319	HIPEpiC	eye:	n/a
27	chr21:40685208-40685258	BJ	skin:	n/a
28	chr21:40669669-40669719	HepG2	liver:	n/a
29	chr21:40681387-40681437	NHBE	bronchial:	n/a
30	chr21:40669669-40669719	H1-hESC	embryonic stem cell:	embryo
31	chr21:40681387-40681437	AG10803	skin:	n/a
32	chr21:40685679-40685729	U87	brain:	n/a
33	chr21:40685208-40685258	SK-N-SH	brain:	n/a
34	chr21:40689521-40689571	PrEC	prostate:	n/a
35	chr21:40684751-40684801	HEK293	kidney:	embryo
36	chr21:40686185-40686235	IMR90	lung:	fetal
37	chr21:40681387-40681437	Hela-S3	cervix:	n/a
38	chr21:40681387-40681437	H1-hESC	embryonic stem cell:	embryo
39	chr21:40685342-40685392	ProgFib	skin:	n/a
40	chr21:40684269-40684319	AoSMC	blood vessel:	n/a
41	chr21:40685679-40685729	ovcar-3	ovarian:	n/a
42	chr21:40684269-40684319	U87	brain:	n/a
43	chr21:40686621-40686671	SK-N-SH	brain:	n/a
44	chr21:40685679-40685729	NH-A	brain:	n/a
45	chr21:40681387-40681437	LNCaP	prostate:	n/a
46	chr21:40686185-40686235	Caco-2	colon:	n/a
47	chr21:40685679-40685729	NB4	blood:	n/a
48	chr21:40685208-40685258	T-47D	breast:	n/a
49	chr21:40685679-40685729	AG04450	lung:	fetal
50	chr21:40685679-40685729	NHBE	bronchial:	n/a

(count:288 , 50 per page) page: 1 2 3 4 5 6

No.	Distal block	Cell Line	Cell type
1	chr21:40697380..40699539-chr21:40715935..40717725,2	K562	blood:
2	chr21:40596378..40598646-chr21:40599484..40601519,2	K562	blood:
3	chr21:40632394..40633950-chr21:40634742..40636746,2	MCF-7	breast:
4	chr21:40637338..40639211-chr21:40640797..40642340,2	K562	blood:
5	chr21:40652879..40654790-chr21:40655806..40657491,2	MCF-7	breast:
6	chr21:40604603..40606220-chr21:40613422..40615728,2	K562	blood:
7	chr21:40666937..40669991-chr21:40672116..40674107,3	MCF-7	breast:
8	chr21:40581217..40582784-chr21:40687990..40689879,2	K562	blood:
9	chr21:40628735..40630944-chr21:40634628..40637313,2	MCF-7	breast:
10	21:40671591-40673895..21:40748850-40752541	Hela-S3	cervix:
11	chr21:40660582..40664374-chr21:40667695..40671151,4	MCF-7	breast:
12	chr21:40629126..40631101-chr21:40634657..40636859,2	K562	blood:
13	chr21:40683717..40685708-chr21:40747929..40750593,3	MCF-7	breast:
14	chr21:40566697..40568656-chr21:40592903..40594703,2	MCF-7	breast:
15	21:40565363-40575691..21:40718004-40719183	GM12878	blood:
16	chr21:40581211..40583569-chr21:40670765..40672444,2	K562	blood:
17	chr21:40585095..40587800-chr21:40718883..40720522,2	K562	blood:
18	chr21:40587436..40591443-chr21:40593208..40596676,4	MCF-7	breast:
19	chr21:40554637..40556936-chr21:40588612..40590641,2	K562	blood:
20	chr21:40626308..40628705-chr21:40634395..40637169,2	K562	blood:
21	chr21:40657367..40661243-chr21:40682773..40686653,4	MCF-7	breast:
22	21:40653254-40655577..21:40748850-40752541	Hela-S3	cervix:
23	chr21:40684332..40690368-chr21:40756970..40764337,16	K562	blood:
24	chr21:40649663..40652443-chr21:40657083..40659080,2	K562	blood:
25	chr21:40671488..40672356-chr21:40760178..40761118,2	MCF-7	breast:
26	chr21:40576478..40578016-chr21:40635061..40637089,2	MCF-7	breast:
27	chr21:40592475..40595061-chr21:40604619..40606247,2	MCF-7	breast:
28	21:40581316-40583765..21:40809171-40812812	GM12878	blood:
29	chr21:40675820..40678831-chr21:40721085..40724268,3	K562	blood:
30	chr21:40602289..40604074-chr21:40606998..40609550,3	MCF-7	breast:
31	chr21:40597729..40601273-chr21:40623831..40625559,3	K562	blood:
32	chr21:40560351..40562660-chr21:40594033..40595744,3	K562	blood:
33	chr21:40635630..40638349-chr21:40720638..40723544,2	MCF-7	breast:
34	chr21:40681596..40696529-chr21:40715399..40724266,46	K562	blood:
35	chr21:40696329..40702419-chr21:40706472..40712889,11	K562	blood:
36	chr21:40579851..40582767-chr21:40583225..40585456,3	K562	blood:
37	chr21:40648027..40649939-chr21:40662663..40664806,2	K562	blood:
38	chr21:40696801..40699302-chr21:40699637..40702550,2	K562	blood:
39	chr21:40582005..40584488-chr8:97183248..97185340,2	MCF-7	breast:
40	chr21:40682856..40693378-chr21:40754350..40765471,56	MCF-7	breast:
41	chr21:40604601..40607063-chr21:40608488..40609991,2	MCF-7	breast:
42	chr21:40602448..40605045-chr21:40605736..40607319,2	K562	blood:
43	chr21:40647289..40650934-chr21:40652989..40655013,3	MCF-7	breast:
44	chr21:40624621..40626842-chr21:40719575..40722484,2	MCF-7	breast:
45	chr21:40602604..40604323-chr21:40607724..40609289,2	K562	blood:
46	chr21:40631854..40634672-chr21:40643300..40644841,2	MCF-7	breast:
47	chr21:40574761..40577366-chr21:40579952..40583653,3	MCF-7	breast:
48	chr21:40650689..40652443-chr21:40655865..40658583,2	K562	blood:
49	chr21:40647474..40653272-chr21:40661501..40665545,6	K562	blood:
50	chr21:40603008..40605391-chr21:40609514..40611568,2	MCF-7	breast:

(count:14 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-WRB-2	chr21:40685704-40686091	XLOC_013942
2	lnc-WRB-2	chr21:40687633-40687741	XLOC_013942
3	lnc-WRB-6	chr21:40588550-40588709	NONHSAT082155
4	lnc-PSMG1-1	chr21:40589019-40589103	ENSG00000237373.1
5	lnc-BRWD1-IT2-1	chr21:40685861-40686888	NONHSAT082161
6	lnc-WRB-2	chr21:40694728-40695144	XLOC_013942
7	lnc-WRB-6	chr21:40589327-40589432	NONHSAT082155
8	lnc-WRB-5	chr21:40678376-40679152	ucscGeneNc_uc002yyu_2
9	lnc-PSMG1-1	chr21:40591328-40591731	ENSG00000237373.1
10	lnc-WRB-2	chr21:40688971-40689135	XLOC_013942
11	lnc-WRB-2	chr21:40688971-40689880	XLOC_013942
12	lnc-BRWD1-IT2-1	chr21:40685888-40686369	ENSG00000255568.2
13	lnc-BRWD1-IT2-1	chr21:40685887-40686886	ENSG00000255568.2
14	lnc-WRB-5	chr21:40676880-40677252	ucscGeneNc_uc002yyu_2

No data

(count:4 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	BRWD1	hsa-miR-106b-5p	chr21:40668523-40668543
2	BRWD1	hsa-miR-192-5p	chr21:40669023-40669043
3	BRWD1	hsa-miR-15a-5p	chr21:40668479-40668499
4	BRWD1	hsa-miR-15a-5p	chr21:40669078-40669100

Variant related genes	Relation type
METTL21AP1	TF binding region
BRWD1-AS1	TF binding region
TIMM9P2	TF binding region
BRWD1	TF binding region
BRWD1-IT1	TF binding region
BRWD1-IT2	TF binding region
METTL21AP1	CpG island
BRWD1-AS1	CpG island
TIMM9P2	CpG island
BRWD1	CpG island
BRWD1-IT1	CpG island
BRWD1-IT2	CpG island
ENSG00000236830	chromatin interactions
ENSG00000184260	chromatin interactions
ENSG00000163635	chromatin interactions
ENSG00000196922	chromatin interactions
ENSG00000157578	chromatin interactions
ENSG00000168066	chromatin interactions
ENSG00000168137	chromatin interactions
ENSG00000100227	chromatin interactions
ENSG00000185437	chromatin interactions
ENSG00000186432	chromatin interactions
ENSG00000270022	chromatin interactions
ENSG00000215444	chromatin interactions
ENSG00000185658	chromatin interactions
ENSG00000183527	chromatin interactions
ENSG00000238141	chromatin interactions
ENSG00000237373	chromatin interactions
ENSG00000252915	chromatin interactions
ENSG00000232608	chromatin interactions
ENSG00000229320	chromatin interactions
ENSG00000113194	chromatin interactions
ENSG00000119335	chromatin interactions
ENSG00000227406	chromatin interactions
ENSG00000115648	chromatin interactions
ENSG00000158615	chromatin interactions
ENSG00000099860	chromatin interactions
ENSG00000238556	chromatin interactions
ENSG00000229623	chromatin interactions
ENSG00000182093	chromatin interactions
ENSG00000255568	chromatin interactions
ENSG00000163634	chromatin interactions
ENSG00000255559	chromatin interactions
ENSG00000153879	chromatin interactions
ENSG00000205581	chromatin interactions
ENSG00000206573	chromatin interactions
ENSG00000184678	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000272991	chromatin interactions
EXOC5	miRNA target sites

Extended variants
information (count: 5506 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:5506 , 50 per page) page: 1 2 3 4 5 6 7 ... 111

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1041439	chr21:40571246-40571247	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs181606658	chr21:40571248-40571249	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs146332659	chr21:40571259-40571260	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs149287073	chr21:40571272-40571273	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs139647798	chr21:40571348-40571349	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs371636442	chr21:40571382-40571383	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs144306654	chr21:40571413-40571414	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs566840793	chr21:40571477-40571478	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs374839806	chr21:40571478-40571479	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs151024351	chr21:40571508-40571509	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs370134792	chr21:40571519-40571520	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs111951743	chr21:40571529-40571530	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs374524123	chr21:40571534-40571535	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs140948978	chr21:40571545-40571546	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs147194016	chr21:40571547-40571548	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs2234546	chr21:40571563-40571564	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs149736373	chr21:40571584-40571585	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs144544648	chr21:40571613-40571614	Strong transcription Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs557097742	chr21:40571622-40571623	Strong transcription Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs570536356	chr21:40571680-40571681	Strong transcription Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs180676629	chr21:40571698-40571699	Strong transcription Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs148468565	chr21:40571699-40571700	Strong transcription Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs572776166	chr21:40571707-40571708	Strong transcription Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs71330350	chr21:40571712-40571713	Strong transcription Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs182449548	chr21:40571772-40571773	Strong transcription Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs555984852	chr21:40571810-40571811	Strong transcription Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs2234545	chr21:40571845-40571846	Strong transcription Weak transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs145980372	chr21:40571851-40571852	Strong transcription Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs186187788	chr21:40571871-40571872	Strong transcription Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs112538900	chr21:40571897-40571898	Strong transcription Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs369023838	chr21:40571898-40571899	Strong transcription Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs190819553	chr21:40571922-40571923	Strong transcription Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs540697433	chr21:40571949-40571950	Strong transcription Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs560329598	chr21:40571955-40571956	Strong transcription Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs529282804	chr21:40571958-40571959	Strong transcription Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs74816701	chr21:40571959-40571960	Strong transcription Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs555251167	chr21:40571961-40571962	Strong transcription Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs568316883	chr21:40571966-40571967	Strong transcription Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs530749261	chr21:40571969-40571970	Strong transcription Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs550762453	chr21:40571987-40571988	Strong transcription Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs539104788	chr21:40572018-40572019	Strong transcription Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs2234543	chr21:40572072-40572073	Strong transcription Weak transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs539187306	chr21:40572093-40572094	Strong transcription Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs374118004	chr21:40572100-40572101	Strong transcription Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs377593325	chr21:40572126-40572127	Strong transcription Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs370576402	chr21:40572169-40572170	Strong transcription Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs565800287	chr21:40572178-40572179	Strong transcription Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs145660358	chr21:40572186-40572187	Strong transcription Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs141329925	chr21:40572196-40572197	Strong transcription Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs146994361	chr21:40572198-40572199	Strong transcription Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:73)

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 myeloid leukemia	20729466	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
Down syndrome	20877625	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Prostate cancer	21147910	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:3951 , 50 per page) page: 1 2 3 4 5 6 7 ... 80

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40556200-40576600	Weak transcription	Esophagus	oesophagus
2	chr21:40556200-40576600	Weak transcription	Pancreas	Pancrea
3	chr21:40556200-40602600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr21:40556600-40576600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr21:40563000-40640600	Strong transcription	Placenta	Placenta
6	chr21:40563000-40643600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr21:40563200-40581000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr21:40563400-40653400	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr21:40563400-40660000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr21:40563600-40575200	Strong transcription	HSMM	muscle
11	chr21:40563600-40588600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr21:40563600-40653600	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr21:40563800-40575400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr21:40564600-40612600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr21:40564800-40587800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr21:40565000-40581200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr21:40565000-40592600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr21:40565000-40654600	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr21:40565200-40579000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr21:40565200-40653600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr21:40565400-40571400	Strong transcription	Brain Hippocampus Middle	brain
22	chr21:40565400-40574600	Strong transcription	Skeletal Muscle Female	skeletal muscle
23	chr21:40565400-40575400	Strong transcription	Primary hematopoietic stem cells	blood
24	chr21:40565400-40580800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr21:40565400-40604200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr21:40565400-40612600	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr21:40565400-40653600	Strong transcription	Dnd41	blood
28	chr21:40565600-40585600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr21:40565600-40590200	Strong transcription	Liver	Liver
30	chr21:40565600-40615000	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr21:40565800-40580600	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr21:40565800-40581400	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr21:40565800-40590600	Strong transcription	Fetal Thymus	thymus
34	chr21:40566000-40573800	Strong transcription	Fetal Brain Female	brain
35	chr21:40566000-40574600	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr21:40566000-40575000	Strong transcription	Primary B cells from peripheral blood	blood
37	chr21:40566000-40575200	Strong transcription	Duodenum Mucosa	Duodenum
38	chr21:40566000-40653600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr21:40566200-40571400	Strong transcription	Brain Anterior Caudate	brain
40	chr21:40566200-40574000	Strong transcription	Primary B cells from cord blood	blood
41	chr21:40566200-40575400	Strong transcription	NH-A	brain
42	chr21:40566200-40590600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
43	chr21:40566200-40590600	Strong transcription	Adipose Nuclei	Adipose
44	chr21:40566400-40575200	Strong transcription	Brain Inferior Temporal Lobe	brain
45	chr21:40566400-40575200	Strong transcription	Fetal Lung	lung
46	chr21:40566400-40580200	Strong transcription	K562	blood
47	chr21:40566400-40580800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr21:40566400-40613200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr21:40566600-40581200	Strong transcription	Fetal Muscle Trunk	muscle
50	chr21:40567000-40573800	Strong transcription	Hela-S3	cervix

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