Variant report

Variant	nsv1059420
Chromosome Location	chr21:40684295-40745952
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2767)
CpG islands
(count:1407)
Chromatin interactive
region (count:157)
LncRNA
region (count:18)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2767 , 50 per page) page: 1 2 3 4 5 6 7 ... 56

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr21:40721339-40721821	HepG2	liver:	n/a	n/a
2	ARID3A	chr21:40719952-40720347	HepG2	liver:	n/a	n/a
3	ARID3A	chr21:40719412-40719807	K562	blood:	n/a	n/a
4	ARID3A	chr21:40704270-40704283	HepG2	liver:	n/a	n/a
5	ARID3A	chr21:40690010-40690377	K562	blood:	n/a	n/a
6	ARID3A	chr21:40685459-40685944	HepG2	liver:	n/a	n/a
7	ARID3A	chr21:40684237-40684587	HepG2	liver:	n/a	n/a
8	ARID3A	chr21:40704232-40704325	K562	blood:	n/a	n/a
9	ARID3A	chr21:40745588-40745950	HepG2	liver:	n/a	n/a
10	ARID3A	chr21:40684160-40684495	K562	blood:	n/a	n/a
11	ARID3A	chr21:40721276-40721854	K562	blood:	n/a	n/a
12	ARID3A	chr21:40685486-40686045	K562	blood:	n/a	n/a
13	ARID3A	chr21:40742429-40742714	K562	blood:	n/a	n/a
14	ARID3A	chr21:40689214-40689807	K562	blood:	n/a	n/a
15	ATF1	chr21:40704082-40704411	K562	blood:	n/a	n/a
16	ATF1	chr21:40742391-40742932	K562	blood:	n/a	n/a
17	ATF1	chr21:40721209-40721794	K562	blood:	n/a	n/a
18	ATF1	chr21:40684204-40684554	K562	blood:	n/a	n/a
19	ATF1	chr21:40735532-40736159	K562	blood:	n/a	n/a
20	ATF1	chr21:40689233-40689841	K562	blood:	n/a	n/a
21	ATF2	chr21:40721379-40721845	GM12878	blood:	n/a	n/a
22	ATF2	chr21:40685445-40685848	GM12878	blood:	n/a	n/a
23	ATF2	chr21:40685478-40685788	H1-hESC	embryonic stem cell:	n/a	n/a
24	ATF2	chr21:40685801-40686058	H1-hESC	embryonic stem cell:	n/a	n/a
25	ATF2	chr21:40686170-40686911	GM12878	blood:	n/a	n/a
26	ATF2	chr21:40686129-40686473	GM12878	blood:	n/a	n/a
27	ATF2	chr21:40720277-40720595	H1-hESC	embryonic stem cell:	n/a	n/a
28	ATF3	chr21:40721217-40721744	K562	blood:	n/a	chr21:40721339-40721359
29	ATF3	chr21:40742305-40742749	K562	blood:	n/a	n/a
30	ATF3	chr21:40721234-40721752	GM12878	blood:	n/a	chr21:40721339-40721359
31	ATF3	chr21:40685537-40685975	A549	lung:	n/a	n/a
32	ATF3	chr21:40685702-40686024	K562	blood:	n/a	n/a
33	ATF3	chr21:40721208-40721584	H1-hESC	embryonic stem cell:	n/a	chr21:40721339-40721359
34	BACH1	chr21:40685672-40686138	H1-hESC	embryonic stem cell:	n/a	n/a
35	BACH1	chr21:40683959-40684349	K562	blood:	n/a	n/a
36	BACH1	chr21:40720334-40721954	H1-hESC	embryonic stem cell:	n/a	n/a
37	BACH1	chr21:40685595-40685978	K562	blood:	n/a	n/a
38	BACH1	chr21:40691460-40692328	K562	blood:	n/a	n/a
39	BACH1	chr21:40686590-40686830	K562	blood:	n/a	n/a
40	BACH1	chr21:40684507-40684547	H1-hESC	embryonic stem cell:	n/a	n/a
41	BACH1	chr21:40720877-40721041	K562	blood:	n/a	n/a
42	BATF	chr21:40686512-40686785	GM12878	blood:	n/a	n/a
43	BATF	chr21:40686500-40686798	GM12878	blood:	n/a	n/a
44	BCL3	chr21:40713496-40714130	K562	blood:	n/a	n/a
45	BCL3	chr21:40685633-40686059	GM12878	blood:	n/a	chr21:40685860-40685873 chr21:40685852-40685865
46	BCLAF1	chr21:40720130-40720651	GM12878	blood:	n/a	n/a
47	BCLAF1	chr21:40685291-40686106	GM12878	blood:	n/a	chr21:40685860-40685873 chr21:40685852-40685865
48	BCLAF1	chr21:40721488-40722037	GM12878	blood:	n/a	n/a
49	BCLAF1	chr21:40685340-40686135	GM12878	blood:	n/a	chr21:40685860-40685873 chr21:40685852-40685865
50	BHLHE40	chr21:40685454-40686741	GM12878	blood:	n/a	chr21:40685751-40685767 chr21:40685847-40685863

(count:1407 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:40685342-40685392	NH-A	brain:	n/a
2	chr21:40719088-40719138	MCF-7	breast:	n/a
3	chr21:40686053-40686103	AG09319	gingival:	n/a
4	chr21:40686185-40686235	ProgFib	skin:	n/a
5	chr21:40685342-40685392	NH-A	brain:	n/a
6	chr21:40719088-40719138	MCF-7	breast:	n/a
7	chr21:40686053-40686103	AG09319	gingival:	n/a
8	chr21:40686185-40686235	ProgFib	skin:	n/a
9	chr21:40722023-40722073	PANC-1	pancreas:	n/a
10	chr21:40720916-40720966	HepG2	liver:	n/a
11	chr21:40721130-40721180	HRPEpiC	eye:	n/a
12	chr21:40721020-40721070	AG04449	skin:	fetal
13	chr21:40686053-40686103	AG04450	lung:	fetal
14	chr21:40685679-40685729	HCPEpiC	choroid plexus:	n/a
15	chr21:40684751-40684801	H1-hESC	embryonic stem cell:	embryo
16	chr21:40719088-40719138	U87	brain:	n/a
17	chr21:40717775-40717825	MCF-7	breast:	n/a
18	chr21:40686621-40686671	A549	lung:	n/a
19	chr21:40685342-40685392	IMR90	lung:	fetal
20	chr21:40721426-40721476	ProgFib	skin:	n/a
21	chr21:40722023-40722073	Jurkat	blood:	n/a
22	chr21:40721020-40721070	AG09319	gingival:	n/a
23	chr21:40721426-40721476	U87	brain:	n/a
24	chr21:40685342-40685392	AG10803	skin:	n/a
25	chr21:40720916-40720966	NT2-D1	testis:	n/a
26	chr21:40721020-40721070	SK-N-MC	brain:	n/a
27	chr21:40721426-40721476	Hela-S3	cervix:	n/a
28	chr21:40684751-40684801	Jurkat	blood:	n/a
29	chr21:40720186-40720236	Jurkat	blood:	n/a
30	chr21:40721130-40721180	ECC-1	luminal epithelium:	n/a
31	chr21:40686621-40686671	GM12892	blood:	n/a
32	chr21:40685342-40685392	AG04449	skin:	fetal
33	chr21:40686185-40686235	LNCaP	prostate:	n/a
34	chr21:40684731-40684781	A549	lung:	n/a
35	chr21:40684269-40684319	HAEpiC	amniotic membrane:	n/a
36	chr21:40721130-40721180	Jurkat	blood:	n/a
37	chr21:40714455-40714505	AG09309	skin:	n/a
38	chr21:40686053-40686103	NHBE	bronchial:	n/a
39	chr21:40721343-40721393	HRE	kidney:	n/a
40	chr21:40684751-40684801	SK-N-MC	brain:	n/a
41	chr21:40685208-40685258	SAEC	small airway:	n/a
42	chr21:40724242-40724292	HCM	heart:	n/a
43	chr21:40721343-40721393	CMK	blood:	n/a
44	chr21:40685342-40685392	A549	lung:	n/a
45	chr21:40686185-40686235	RPTEC	kidney:	n/a
46	chr21:40720186-40720236	HCT-116	colon:	n/a
47	chr21:40689521-40689571	ECC-1	luminal epithelium:	n/a
48	chr21:40686053-40686103	GM12892	blood:	n/a
49	chr21:40720186-40720236	A549	lung:	n/a
50	chr21:40721343-40721393	SKMC	muscle:	n/a

(count:157 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr21:40713943..40715737-chr21:40750711..40753188,2	K562	blood:
2	chr21:40716961..40718462-chr21:40751682..40753726,2	K562	blood:
3	chr21:40650772..40652472-chr21:40721952..40724679,2	K562	blood:
4	chr21:40635414..40638745-chr21:40717382..40720310,3	K562	blood:
5	chr21:40681596..40696529-chr21:40715399..40724266,46	K562	blood:
6	chr1:9064907..9065782-chr21:40687864..40688368,2	MCF-7	breast:
7	chr21:40720623..40723017-chr21:40815562..40818761,4	K562	blood:
8	chr11:14541657..14542383-chr21:40721262..40722122,2	NB4	blood:
9	chr21:40696329..40702419-chr21:40706472..40712889,11	K562	blood:
10	chr21:40744313..40747019-chr21:40749463..40751747,2	K562	blood:
11	chr16:85043892..85046309-chr21:40720857..40722668,2	MCF-7	breast:
12	chr21:40696801..40699302-chr21:40699637..40702550,2	K562	blood:
13	chr19:2475923..2476512-chr21:40687961..40688912,2	Hela-S3	cervix:
14	chr21:40721702..40724513-chr21:40734759..40737368,2	K562	blood:
15	chr21:40692981..40695530-chr21:40706938..40709803,5	K562	blood:
16	chr21:40684214..40685820-chr21:40745531..40747250,2	MCF-7	breast:
17	chr21:40697380..40699539-chr21:40715935..40717725,2	K562	blood:
18	chr21:40555173..40557304-chr21:40714737..40716613,2	K562	blood:
19	chr21:40696329..40702419-chr21:40706472..40712889,11	K562	blood:
20	chr12:57893868..57894739-chr21:40720155..40721007,2	MCF-7	breast:
21	chr21:40744633..40747729-chr21:40757834..40760724,3	MCF-7	breast:
22	21:40686083-40686932..21:40748850-40752541	K562	blood:
23	chr21:40625733..40628275-chr21:40724083..40725744,2	MCF-7	breast:
24	chr21:40730002..40733257-chr21:40733422..40737177,3	K562	blood:
25	chr21:37527438..37529025-chr21:40684261..40686264,2	MCF-7	breast:
26	chr21:40721264..40724258-chr21:40727030..40728963,3	K562	blood:
27	chr21:40719410..40723060-chr21:40814028..40819084,9	K562	blood:
28	chr21:40682124..40685118-chr21:40763752..40765296,2	K562	blood:
29	chr21:40555032..40557155-chr21:40684133..40685858,2	MCF-7	breast:
30	chr20:50349937..50351852-chr21:40684525..40686487,2	MCF-7	breast:
31	chr21:40646616..40649505-chr21:40712893..40714626,2	K562	blood:
32	chr21:40723559..40725405-chr9:115230270..115232041,2	MCF-7	breast:
33	chr20:49347681..49350459-chr21:40719549..40721947,2	MCF-7	breast:
34	chr21:40685837..40686745-chr5:175875260..175875880,2	Hela-S3	cervix:
35	chr21:40716079..40725440-chr21:40756737..40764615,26	K562	blood:
36	chr19:33863948..33864786-chr21:40685269..40686182,2	Hela-S3	cervix:
37	chr21:40555099..40556872-chr21:40718336..40720047,2	MCF-7	breast:
38	chr1:149858125..149858824-chr21:40685009..40685850,2	Hela-S3	cervix:
39	chr11:64545391..64546081-chr21:40685867..40686815,2	NB4	blood:
40	21:40695608-40702099..21:40757151-40764378	K562	blood:
41	chr21:40721702..40724513-chr21:40734759..40737368,2	K562	blood:
42	chr21:40745299..40746167-chr21:40813543..40814094,2	MCF-7	breast:
43	chr21:40682856..40693378-chr21:40754350..40765471,56	MCF-7	breast:
44	chr21:40686237..40688163-chr21:40821826..40824303,2	MCF-7	breast:
45	chr21:40555201..40557033-chr21:40687768..40689494,2	K562	blood:
46	chr21:40651197..40652738-chr21:40703332..40705694,2	K562	blood:
47	chr21:40720926..40721630-chr8:71581011..71581760,2	HCT-116	colon:
48	chr21:40696801..40699302-chr21:40699637..40702550,2	K562	blood:
49	chr21:40719979..40722729-chr21:40816056..40819504,5	MCF-7	breast:
50	chr21:40720519..40721044-chr5:154237706..154238615,2	Hela-S3	cervix:

(count:18 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HMGN1-2	chr21:40745689-40746344	NONHSAT082183
2	lnc-WRB-2	chr21:40685704-40686091	XLOC_013942
3	lnc-BRWD1-IT2-1	chr21:40685887-40686886	ENSG00000255568.2
4	lnc-HMGN1-1	chr21:40714273-40714616	NONHSAT082168
5	lnc-WRB-2	chr21:40694728-40695144	XLOC_013942
6	lnc-WRB-1	chr21:40739090-40739288	NONHSAT082181
7	lnc-WRB-2	chr21:40688971-40689135	XLOC_013942
8	lnc-WRB-1	chr21:40742507-40742960	NONHSAT082182
9	lnc-BRWD1-IT2-1	chr21:40685888-40686369	ENSG00000255568.2
10	lnc-WRB-1	chr21:40742507-40742922	XLOC_013943
11	lnc-WRB-1	chr21:40742506-40742922	NONHSAT082181
12	lnc-WRB-1	chr21:40739091-40739288	NONHSAT082182
13	lnc-HMGN1-1	chr21:40714278-40714822	NONHSAT082169
14	lnc-WRB-1	chr21:40739091-40739288	XLOC_013943
15	lnc-WRB-2	chr21:40687633-40687741	XLOC_013942
16	lnc-WRB-2	chr21:40688971-40689880	XLOC_013942
17	lnc-HMGN1-1	chr21:40714244-40714584	NONHSAT082167
18	lnc-BRWD1-IT2-1	chr21:40685861-40686888	NONHSAT082161

No data

Variant related genes	Relation type
BRWD1	TF binding region
ENSG00000252915	TF binding region
HMGN1	TF binding region
ENSG00000238556	TF binding region
BRWD1-AS1	TF binding region
BRWD1-IT2	TF binding region
BRWD1	CpG island
ENSG00000252915	CpG island
HMGN1	CpG island
ENSG00000238556	CpG island
BRWD1-AS1	CpG island
BRWD1-IT2	CpG island
ENSG00000238141	chromatin interactions
ENSG00000176994	chromatin interactions
ENSG00000215444	chromatin interactions
ENSG00000221947	chromatin interactions
ENSG00000115648	chromatin interactions
ENSG00000113194	chromatin interactions
ENSG00000255568	chromatin interactions
ENSG00000163635	chromatin interactions
ENSG00000270022	chromatin interactions
ENSG00000147592	chromatin interactions
ENSG00000206573	chromatin interactions
ENSG00000256206	chromatin interactions
ENSG00000184678	chromatin interactions
ENSG00000168137	chromatin interactions
ENSG00000259321	chromatin interactions
ENSG00000182093	chromatin interactions
ENSG00000205581	chromatin interactions
ENSG00000227406	chromatin interactions
ENSG00000183527	chromatin interactions
ENSG00000166986	chromatin interactions
ENSG00000185658	chromatin interactions
ENSG00000153879	chromatin interactions
ENSG00000153786	chromatin interactions
ENSG00000158615	chromatin interactions
ENSG00000229320	chromatin interactions
ENSG00000236830	chromatin interactions
ENSG00000252915	chromatin interactions
ENSG00000099860	chromatin interactions
ENSG00000272991	chromatin interactions
ENSG00000177302	chromatin interactions
ENSG00000184260	chromatin interactions
ENSG00000186432	chromatin interactions
ENSG00000163634	chromatin interactions
ENSG00000203499	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000155508	chromatin interactions
ENSG00000157578	chromatin interactions
ENSG00000100227	chromatin interactions
ENSG00000071054	chromatin interactions
ENSG00000238556	chromatin interactions
ENSG00000119335	chromatin interactions
ENSG00000129084	chromatin interactions
ENSG00000124171	chromatin interactions
ENSG00000232608	chromatin interactions
ENSG00000185437	chromatin interactions
ENSG00000100908	chromatin interactions
ENSG00000168066	chromatin interactions
EXOC5	miRNA target sites
RTKN2	miRNA target sites
DNAJC30	miRNA target sites

Extended variants
information (count: 2647 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:2647 , 50 per page) page: 1 2 3 4 5 6 7 ... 53

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551246070	chr21:40684326-40684327	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
2	rs564764012	chr21:40684328-40684329	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
3	rs190353599	chr21:40684358-40684359	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
4	rs536298128	chr21:40684376-40684377	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
5	rs2272576	chr21:40684389-40684390	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs569662310	chr21:40684411-40684412	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
7	rs572742115	chr21:40684420-40684421	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
8	rs540000852	chr21:40684424-40684425	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
9	rs2272577	chr21:40684427-40684428	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs143724712	chr21:40684487-40684488	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
11	rs546771834	chr21:40684515-40684516	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
12	rs560351381	chr21:40684518-40684519	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
13	rs535238825	chr21:40684521-40684522	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
14	rs555096971	chr21:40684523-40684524	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
15	rs574880069	chr21:40684560-40684561	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
16	rs75104571	chr21:40684561-40684562	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
17	rs543889465	chr21:40684567-40684568	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
18	rs557110558	chr21:40684586-40684587	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
19	rs533242288	chr21:40684593-40684594	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
20	rs183522779	chr21:40684602-40684603	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
21	rs545762452	chr21:40684626-40684627	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
22	rs148552155	chr21:40684632-40684633	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
23	rs2272578	chr21:40684641-40684642	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs540872432	chr21:40684649-40684650	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
25	rs561133720	chr21:40684653-40684654	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
26	rs74611848	chr21:40684686-40684687	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
27	rs549834377	chr21:40684703-40684704	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
28	rs530923747	chr21:40684715-40684716	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
29	rs371284642	chr21:40684718-40684719	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
30	rs532159316	chr21:40684719-40684720	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
31	rs200981927	chr21:40684760-40684761	Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
32	rs555410116	chr21:40684761-40684762	Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
33	rs138436182	chr21:40684806-40684807	Active TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
34	rs368495023	chr21:40684830-40684831	Active TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
35	rs566376983	chr21:40684838-40684839	Active TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
36	rs2297258	chr21:40684861-40684862	Active TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs554904688	chr21:40684870-40684871	Active TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
38	rs568622880	chr21:40684899-40684900	Active TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
39	rs71316130	chr21:40684901-40684902	Active TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
40	rs71316131	chr21:40684904-40684905	Active TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
41	rs112046341	chr21:40684914-40684915	Active TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
42	rs35687055	chr21:40684975-40684976	Active TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	mRNA abundance
43	rs557448402	chr21:40685027-40685028	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
44	rs576894701	chr21:40685036-40685037	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
45	rs545803213	chr21:40685125-40685126	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
46	rs118102968	chr21:40685135-40685136	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	mRNA abundance
47	rs367730916	chr21:40685206-40685207	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
48	rs372197342	chr21:40685229-40685230	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
49	rs34240248	chr21:40685239-40685240	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	19 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs560962441	chr21:40685243-40685244	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:72)

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	22037309	CNVD

Chromatin state (count:1870 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40665200-40684400	Weak transcription	Colonic Mucosa	Colon
2	chr21:40669400-40684400	Weak transcription	Esophagus	oesophagus
3	chr21:40672600-40684400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr21:40673600-40684400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr21:40673600-40684600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr21:40675800-40684400	Weak transcription	Gastric	stomach
7	chr21:40675800-40684400	Weak transcription	Spleen	Spleen
8	chr21:40683400-40684400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr21:40683400-40684400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr21:40683400-40684400	Weak transcription	Lung	lung
11	chr21:40683400-40684400	Enhancers	Stomach Mucosa	stomach
12	chr21:40683600-40684400	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr21:40683600-40686600	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr21:40683800-40684400	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
15	chr21:40683800-40684400	Flanking Active TSS	Primary T cells from cord blood	blood
16	chr21:40683800-40684400	Flanking Active TSS	Primary hematopoietic stem cells	blood
17	chr21:40683800-40684400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
18	chr21:40683800-40684400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
19	chr21:40683800-40684400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
20	chr21:40683800-40684400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr21:40683800-40684400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr21:40683800-40684400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr21:40683800-40684400	Flanking Active TSS	Brain Hippocampus Middle	brain
24	chr21:40683800-40684400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr21:40683800-40684400	Flanking Active TSS	Duodenum Mucosa	Duodenum
26	chr21:40683800-40684400	Flanking Active TSS	Fetal Heart	heart
27	chr21:40683800-40684400	Flanking Active TSS	Rectal Smooth Muscle	rectum
28	chr21:40683800-40684400	Flanking Active TSS	A549	lung
29	chr21:40683800-40684400	Transcr. at gene 5' and 3'	K562	blood
30	chr21:40683800-40684400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr21:40683800-40685400	Active TSS	Right Atrium	heart
32	chr21:40683800-40686400	Active TSS	Thymus	Thymus
33	chr21:40684000-40684400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr21:40684000-40684400	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr21:40684000-40684400	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr21:40684000-40684400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr21:40684000-40684400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr21:40684000-40684400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
39	chr21:40684000-40684400	Flanking Active TSS	Primary B cells from cord blood	blood
40	chr21:40684000-40684400	Enhancers	Primary B cells from peripheral blood	blood
41	chr21:40684000-40684400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
42	chr21:40684000-40684400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
43	chr21:40684000-40684400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
44	chr21:40684000-40684400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
45	chr21:40684000-40684400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
46	chr21:40684000-40684400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
47	chr21:40684000-40684400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
48	chr21:40684000-40684400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
49	chr21:40684000-40684400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
50	chr21:40684000-40684400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links