Variant report

Variant	nsv913900
Chromosome Location	chr21:45577102-45640139
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2401)
CpG islands
(count:1587)
Chromatin interactive
region (count:174)
LncRNA
region (count:36)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2401 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr21:45613588-45613839	K562	blood:	n/a	n/a
2	ARID3A	chr21:45638537-45638623	K562	blood:	n/a	n/a
3	ARID3A	chr21:45612981-45613248	K562	blood:	n/a	n/a
4	ATF1	chr21:45616087-45617176	K562	blood:	n/a	n/a
5	ATF1	chr21:45613617-45613918	K562	blood:	n/a	n/a
6	ATF1	chr21:45627754-45628197	K562	blood:	n/a	n/a
7	ATF1	chr21:45638353-45638745	K562	blood:	n/a	n/a
8	ATF1	chr21:45622503-45622974	K562	blood:	n/a	n/a
9	ATF2	chr21:45639835-45640899	GM12878	blood:	n/a	n/a
10	ATF2	chr21:45579660-45579971	GM12878	blood:	n/a	n/a
11	ATF2	chr21:45592457-45593064	GM12878	blood:	n/a	n/a
12	ATF2	chr21:45615953-45616749	GM12878	blood:	n/a	n/a
13	ATF2	chr21:45634976-45635407	GM12878	blood:	n/a	n/a
14	ATF2	chr21:45594989-45595457	GM12878	blood:	n/a	n/a
15	ATF2	chr21:45615997-45616558	GM12878	blood:	n/a	n/a
16	ATF2	chr21:45594881-45595513	GM12878	blood:	n/a	n/a
17	ATF2	chr21:45626343-45627633	GM12878	blood:	n/a	n/a
18	ATF2	chr21:45577031-45577919	GM12878	blood:	n/a	n/a
19	ATF2	chr21:45579351-45580177	GM12878	blood:	n/a	n/a
20	ATF2	chr21:45626321-45628146	GM12878	blood:	n/a	n/a
21	ATF2	chr21:45631647-45632775	GM12878	blood:	n/a	n/a
22	ATF2	chr21:45580888-45581303	GM12878	blood:	n/a	n/a
23	ATF2	chr21:45632208-45632642	GM12878	blood:	n/a	n/a
24	ATF2	chr21:45590767-45591129	GM12878	blood:	n/a	n/a
25	ATF2	chr21:45638216-45638736	GM12878	blood:	n/a	n/a
26	ATF3	chr21:45616127-45616350	K562	blood:	n/a	n/a
27	ATF3	chr21:45622485-45622869	K562	blood:	n/a	n/a
28	ATF3	chr21:45627837-45628247	K562	blood:	n/a	n/a
29	ATF3	chr21:45616046-45616449	K562	blood:	n/a	n/a
30	BACH1	chr21:45613623-45613858	K562	blood:	n/a	n/a
31	BATF	chr21:45623272-45623610	GM12878	blood:	n/a	n/a
32	BATF	chr21:45579698-45579966	GM12878	blood:	n/a	n/a
33	BATF	chr21:45635177-45635735	GM12878	blood:	n/a	n/a
34	BATF	chr21:45595030-45595354	GM12878	blood:	n/a	n/a
35	BATF	chr21:45579638-45580043	GM12878	blood:	n/a	n/a
36	BATF	chr21:45626310-45627816	GM12878	blood:	n/a	chr21:45627643-45627653
37	BATF	chr21:45616096-45616518	GM12878	blood:	n/a	n/a
38	BATF	chr21:45635423-45635665	GM12878	blood:	n/a	n/a
39	BATF	chr21:45604777-45605014	GM12878	blood:	n/a	n/a
40	BATF	chr21:45616055-45616561	GM12878	blood:	n/a	n/a
41	BATF	chr21:45590837-45591033	GM12878	blood:	n/a	n/a
42	BCL11A	chr21:45579556-45580014	GM12878	blood:	n/a	chr21:45579999-45580008
43	BCL11A	chr21:45590769-45591060	GM12878	blood:	n/a	chr21:45591003-45591012 chr21:45591002-45591011
44	BCL11A	chr21:45626591-45627579	GM12878	blood:	n/a	chr21:45627372-45627381
45	BCL11A	chr21:45626541-45627764	GM12878	blood:	n/a	chr21:45627372-45627381
46	BCL11A	chr21:45616016-45616587	GM12878	blood:	n/a	chr21:45616371-45616379
47	BCL11A	chr21:45594980-45595445	GM12878	blood:	n/a	chr21:45595189-45595198
48	BCL11A	chr21:45604781-45605004	GM12878	blood:	n/a	chr21:45604991-45605000 chr21:45604839-45604848
49	BCL11A	chr21:45604775-45605099	GM12878	blood:	n/a	chr21:45604991-45605000 chr21:45604839-45604848
50	BCL11A	chr21:45595063-45595453	GM12878	blood:	n/a	chr21:45595189-45595198

(count:1587 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:45582448-45582498	PrEC	prostate:	n/a
2	chr21:45582448-45582498	PrEC	prostate:	n/a
3	chr21:45586634-45586684	HIPEpiC	eye:	n/a
4	chr21:45579868-45579918	PANC-1	pancreas:	n/a
5	chr21:45584432-45584482	HMEC	breast:	n/a
6	chr21:45585347-45585397	PANC-1	pancreas:	n/a
7	chr21:45584142-45584192	HNPCEpiC	eye:	n/a
8	chr21:45623005-45623055	Hepatocyte	liver:	n/a
9	chr21:45622096-45622146	HIPEpiC	eye:	n/a
10	chr21:45622493-45622543	HRCEpiC	kidney:	n/a
11	chr21:45577667-45577717	GM19239	blood:	n/a
12	chr21:45626491-45626541	RPTEC	kidney:	n/a
13	chr21:45588221-45588271	SKMC	muscle:	n/a
14	chr21:45578724-45578774	HUVEC	blood vessel:	n/a
15	chr21:45578724-45578774	K562	blood:	n/a
16	chr21:45579868-45579918	HAEpiC	amniotic membrane:	n/a
17	chr21:45586587-45586637	SKMC	muscle:	n/a
18	chr21:45622373-45622423	T-47D	breast:	n/a
19	chr21:45622122-45622172	HCT-116	colon:	n/a
20	chr21:45623005-45623055	CMK	blood:	n/a
21	chr21:45582448-45582498	NHDF-neo	bronchial:	n/a
22	chr21:45623005-45623055	NH-A	brain:	n/a
23	chr21:45622122-45622172	HEK293	kidney:	embryo
24	chr21:45577667-45577717	HRPEpiC	eye:	n/a
25	chr21:45622122-45622172	IMR90	lung:	fetal
26	chr21:45578724-45578774	HepG2	liver:	n/a
27	chr21:45588221-45588271	HRE	kidney:	n/a
28	chr21:45626491-45626541	BJ	skin:	n/a
29	chr21:45622122-45622172	PrEC	prostate:	n/a
30	chr21:45581541-45581591	HUVEC	blood vessel:	n/a
31	chr21:45622373-45622423	ovcar-3	ovarian:	n/a
32	chr21:45586587-45586637	AG10803	skin:	n/a
33	chr21:45619449-45619499	Jurkat	blood:	n/a
34	chr21:45622122-45622172	A549	lung:	n/a
35	chr21:45622373-45622423	HPAEpiC	pulmonary alveolar:	n/a
36	chr21:45586729-45586779	NH-A	brain:	n/a
37	chr21:45586634-45586684	HUVEC	blood vessel:	n/a
38	chr21:45581541-45581591	HAEpiC	amniotic membrane:	n/a
39	chr21:45585347-45585397	HEK293	kidney:	embryo
40	chr21:45581608-45581658	Hela-S3	cervix:	n/a
41	chr21:45579868-45579918	SK-N-SH_RA	brain:	n/a
42	chr21:45578724-45578774	GM06990	blood:	n/a
43	chr21:45622122-45622172	SK-N-MC	brain:	n/a
44	chr21:45622493-45622543	HIPEpiC	eye:	n/a
45	chr21:45622096-45622146	BE2_C	brain:	n/a
46	chr21:45582497-45582547	BJ	skin:	n/a
47	chr21:45626491-45626541	Hela-S3	cervix:	n/a
48	chr21:45622096-45622146	GM06990	blood:	n/a
49	chr21:45626491-45626541	HCF	heart:	n/a
50	chr21:45582448-45582498	ECC-1	luminal epithelium:	n/a

(count:174 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr21:45551956..45555178-chr21:45594619..45596938,3	MCF-7	breast:
2	chr21:45580740..45582853-chr21:45588250..45590805,3	MCF-7	breast:
3	chr21:45582972..45588290-chr21:45588610..45593083,12	MCF-7	breast:
4	chr21:45634893..45639040-chr21:45644730..45647153,4	K562	blood:
5	chr21:45563215..45565745-chr21:45586840..45589212,2	K562	blood:
6	chr21:45621411..45624934-chr21:45718058..45721352,4	MCF-7	breast:
7	chr21:45585105..45587021-chr21:45670091..45672231,2	MCF-7	breast:
8	chr21:45579145..45582773-chr21:45583367..45588421,9	K562	blood:
9	chr21:45566742..45569322-chr21:45613127..45615094,2	MCF-7	breast:
10	chr21:45593299..45595142-chr21:45615478..45617030,2	MCF-7	breast:
11	chr21:45570082..45570694-chr21:45595663..45596552,2	MCF-7	breast:
12	chr21:45637874..45640737-chr21:45652531..45655334,2	MCF-7	breast:
13	chr21:45638024..45640421-chr21:45658228..45660769,4	MCF-7	breast:
14	chr21:45601344..45603219-chr21:45605077..45607004,2	MCF-7	breast:
15	chr21:45610680..45613679-chr21:45657014..45661776,5	MCF-7	breast:
16	chr21:45628810..45630554-chr21:45636671..45638693,2	K562	blood:
17	chr21:45586912..45588544-chr21:45664966..45667379,2	K562	blood:
18	chr21:45601344..45603219-chr21:45605077..45607004,2	MCF-7	breast:
19	chr21:45621014..45626357-chr21:45626432..45630019,5	K562	blood:
20	chr21:45589159..45592630-chr21:45595018..45597675,5	MCF-7	breast:
21	chr21:45595680..45596514-chr21:45615830..45617060,14	MCF-7	breast:
22	chr21:45614676..45619255-chr21:45657692..45665676,14	MCF-7	breast:
23	chr21:45565762..45568425-chr21:45616246..45618901,2	MCF-7	breast:
24	chr21:45574056..45576001-chr21:45612468..45614888,2	MCF-7	breast:
25	chr21:45637636..45640956-chr21:45661307..45664168,3	MCF-7	breast:
26	chr21:45620341..45625358-chr21:45718389..45721509,5	MCF-7	breast:
27	chr21:45628810..45630554-chr21:45636671..45638693,2	K562	blood:
28	chr21:45595676..45596652-chr21:45615636..45617063,9	MCF-7	breast:
29	chr21:45604659..45607441-chr21:45758235..45760916,2	MCF-7	breast:
30	chr21:45588410..45594838-chr21:45658945..45665595,14	MCF-7	breast:
31	chr21:45621014..45626357-chr21:45626432..45630019,5	K562	blood:
32	chr21:45576170..45578304-chr21:45582737..45584575,2	K562	blood:
33	chr21:45633493..45635981-chr21:45638938..45640638,2	MCF-7	breast:
34	chr21:45581288..45584070-chr21:45586807..45588482,3	MCF-7	breast:
35	chr21:45553046..45554600-chr21:45582651..45585521,2	K562	blood:
36	chr21:45615189..45618434-chr21:45625221..45628569,5	MCF-7	breast:
37	chr21:45573023..45575397-chr21:45576610..45579323,3	K562	blood:
38	chr21:45590150..45592594-chr21:45724156..45726661,2	K562	blood:
39	chr21:45631200..45631884-chr4:2306687..2307191,2	MCF-7	breast:
40	chr21:45596803..45598450-chr21:45604660..45608499,3	K562	blood:
41	chr21:45636499..45639520-chr21:45653196..45656118,3	K562	blood:
42	chr21:45595723..45596653-chr21:45604850..45605608,2	MCF-7	breast:
43	chr21:45577649..45579373-chr21:45579464..45581080,2	MCF-7	breast:
44	chr21:45577492..45580364-chr21:45620942..45622616,2	K562	blood:
45	chr21:45631740..45633911-chr21:45635590..45640208,4	MCF-7	breast:
46	chr21:45553470..45554986-chr21:45608150..45609834,2	MCF-7	breast:
47	chr21:45596950..45600837-chr21:45603449..45606160,3	K562	blood:
48	chr21:45574984..45576720-chr21:45588923..45590555,2	MCF-7	breast:
49	chr21:45604092..45606788-chr21:45665830..45668465,2	MCF-7	breast:
50	chr21:45610778..45612309-chr21:45667999..45669878,2	MCF-7	breast:

(count:36 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C21orf33-2	chr21:45621173-45621840	XLOC_013967
2	lnc-ICOSLG-2	chr21:45620693-45621216	XLOC_014114
3	lnc-ICOSLG-6	chr21:45579162-45579237	XLOC_014110
4	lnc-ICOSLG-6	chr21:45579708-45579959	XLOC_014110
5	lnc-ICOSLG-6	chr21:45578623-45579237	XLOC_014110
6	lnc-ICOSLG-1	chr21:45621679-45621840	NONHSAT082494
7	lnc-C21orf33-1	chr21:45595563-45596336	XLOC_013966
8	lnc-ICOSLG-7	chr21:45622544-45622770	NONHSAT082495
9	lnc-ICOSLG-5	chr21:45587386-45588035	XLOC_014111
10	lnc-ICOSLG-6	chr21:45578913-45579237	XLOC_014110
11	lnc-C21orf33-4	chr21:45581050-45581158	NONHSAT082484
12	lnc-ICOSLG-3	chr21:45610322-45610610	XLOC_014113
13	lnc-ICOSLG-2	chr21:45619132-45620582	XLOC_014114
14	lnc-C21orf33-2	chr21:45622449-45622579	XLOC_013967
15	lnc-ICOSLG-1	chr21:45627086-45627282	XLOC_014115
16	lnc-ICOSLG-6	chr21:45578913-45580684	XLOC_014110
17	lnc-ICOSLG-5	chr21:45587846-45587895	XLOC_014111
18	lnc-C21orf33-1	chr21:45595372-45595418	XLOC_013966
19	lnc-ICOSLG-7	chr21:45623876-45623967	NONHSAT082495
20	lnc-ICOSLG-6	chr21:45579708-45579955	XLOC_014110
21	lnc-ICOSLG-6	chr21:45579413-45579465	XLOC_014110
22	lnc-ICOSLG-5	chr21:45588000-45588356	XLOC_014111
23	lnc-ICOSLG-5	chr21:45588105-45588335	XLOC_014111
24	lnc-ICOSLG-1	chr21:45626408-45626673	XLOC_014115
25	lnc-ICOSLG-8	chr21:45582933-45583221	NONHSAT082485
26	lnc-ICOSLG-4	chr21:45593932-45594237	XLOC_014112
27	lnc-ICOSLG-8	chr21:45586168-45586333	NONHSAT082485
28	lnc-ICOSLG-1	chr21:45627086-45627280	NONHSAT082494
29	lnc-ICOSLG-1	chr21:45626412-45626714	NONHSAT082494
30	lnc-C21orf33-4	chr21:45582739-45583008	NONHSAT082484
31	lnc-ICOSLG-6	chr21:45578496-45578657	XLOC_014110
32	lnc-ICOSLG-3	chr21:45613874-45613944	XLOC_014113
33	lnc-ICOSLG-6	chr21:45578898-45579044	XLOC_014110
34	lnc-ICOSLG-6	chr21:45576307-45578657	XLOC_014110
35	lnc-ICOSLG-3	chr21:45614149-45614187	XLOC_014113
36	lnc-ICOSLG-4	chr21:45608341-45608380	XLOC_014112

No data

Variant related genes	Relation type
ENSG00000232124	TF binding region
ENSG00000267913	TF binding region
ENSG00000237604	TF binding region
ENSG00000225331	TF binding region
ENSG00000232698	TF binding region
ENSG00000232124	CpG island
ENSG00000267913	CpG island
ENSG00000237604	CpG island
ENSG00000225331	CpG island
ENSG00000232698	CpG island
ENSG00000160226	chromatin interactions
ENSG00000142182	chromatin interactions
ENSG00000160223	chromatin interactions
ENSG00000141959	chromatin interactions
ENSG00000237604	chromatin interactions
ENSG00000241945	chromatin interactions
ENSG00000160224	chromatin interactions
ENSG00000232698	chromatin interactions
ENSG00000160221	chromatin interactions
ENSG00000225331	chromatin interactions
ENSG00000232010	chromatin interactions
ENSG00000232969	chromatin interactions
ENSG00000267913	chromatin interactions
ENSG00000232124	chromatin interactions
PDPK1	miRNA target sites
PDPR	miRNA target sites
ZNF238	miRNA target sites
ARID3A	miRNA target sites

Extended variants
information (count: 3121 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:3121 , 50 per page) page: 1 2 3 4 5 6 7 ... 63

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7280558	chr21:45577102-45577103	Weak transcription Flanking Active TSS Enhancers Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs556815828	chr21:45577190-45577191	Weak transcription Flanking Active TSS Enhancers Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs140677000	chr21:45577191-45577192	Weak transcription Flanking Active TSS Enhancers Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs542552071	chr21:45577228-45577229	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs560482131	chr21:45577230-45577231	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs572496269	chr21:45577301-45577302	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs149777409	chr21:45577310-45577311	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs564457835	chr21:45577322-45577323	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs558628528	chr21:45577339-45577340	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs532331325	chr21:45577351-45577352	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs550455452	chr21:45577358-45577359	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs562710809	chr21:45577367-45577368	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs529911211	chr21:45577396-45577397	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
14	rs548099412	chr21:45577398-45577399	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
15	rs566108574	chr21:45577409-45577410	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
16	rs199555819	chr21:45577430-45577431	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
17	rs397709790	chr21:45577432-45577433	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
18	rs533573975	chr21:45577435-45577436	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
19	rs551843781	chr21:45577457-45577458	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
20	rs370957063	chr21:45577460-45577461	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
21	rs570502545	chr21:45577471-45577472	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
22	rs537950331	chr21:45577581-45577582	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
23	rs189802305	chr21:45577604-45577605	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
24	rs145724867	chr21:45577612-45577613	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
25	rs536129388	chr21:45577642-45577643	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
26	rs554534353	chr21:45577643-45577644	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
27	rs112929803	chr21:45577654-45577655	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
28	rs62226728	chr21:45577698-45577699	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
29	rs546266068	chr21:45577699-45577700	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
30	rs77706456	chr21:45577724-45577725	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
31	rs576417157	chr21:45577728-45577729	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
32	rs543911911	chr21:45577753-45577754	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
33	rs201812302	chr21:45577754-45577755	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
34	rs144208612	chr21:45577774-45577775	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
35	rs28547944	chr21:45577782-45577783	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs559602707	chr21:45577826-45577827	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
37	rs76625930	chr21:45577832-45577833	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
38	rs548062238	chr21:45577867-45577868	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
39	rs369127361	chr21:45577870-45577871	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
40	rs182064391	chr21:45577871-45577872	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
41	rs551842606	chr21:45577873-45577874	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
42	rs570439971	chr21:45577874-45577875	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
43	rs187042104	chr21:45577908-45577909	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
44	rs549871093	chr21:45577920-45577921	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
45	rs571252684	chr21:45577944-45577945	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
46	rs536092373	chr21:45577950-45577951	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
47	rs538231725	chr21:45577963-45577964	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
48	rs550832071	chr21:45577967-45577968	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
49	rs554497681	chr21:45577995-45577996	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
50	rs368672911	chr21:45578020-45578021	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
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
small cell lung cancer	17426248	CNVD
Ependymoma	20639864	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Down syndrome	21154855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:2285 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45561000-45584400	Weak transcription	Aorta	Aorta
2	chr21:45565400-45580600	Weak transcription	Brain Germinal Matrix	brain
3	chr21:45570600-45577400	Enhancers	Primary B cells from cord blood	blood
4	chr21:45571000-45582600	Weak transcription	Ovary	ovary
5	chr21:45572400-45577400	Enhancers	Fetal Thymus	thymus
6	chr21:45572800-45577400	Enhancers	Primary hematopoietic stem cells	blood
7	chr21:45573000-45577600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr21:45573000-45579400	Enhancers	Spleen	Spleen
9	chr21:45573200-45577200	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr21:45573600-45579400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr21:45573600-45580000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr21:45573800-45577200	Enhancers	Brain Hippocampus Middle	brain
13	chr21:45573800-45577600	Enhancers	Colonic Mucosa	Colon
14	chr21:45573800-45578000	Enhancers	Placenta	Placenta
15	chr21:45573800-45580400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr21:45574000-45578000	Enhancers	Esophagus	oesophagus
17	chr21:45574000-45579200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr21:45574000-45579400	Weak transcription	Small Intestine	intestine
19	chr21:45574400-45577200	Enhancers	Brain Substantia Nigra	brain
20	chr21:45574600-45579400	Weak transcription	Pancreas	Pancrea
21	chr21:45575200-45577800	Enhancers	Adipose Nuclei	Adipose
22	chr21:45575200-45579400	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr21:45575400-45577600	Enhancers	Duodenum Mucosa	Duodenum
24	chr21:45575400-45577600	Enhancers	Stomach Smooth Muscle	stomach
25	chr21:45575400-45578800	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr21:45575400-45579000	Weak transcription	Rectal Smooth Muscle	rectum
27	chr21:45575400-45579400	Weak transcription	Liver	Liver
28	chr21:45575400-45580200	Weak transcription	NHLF	lung
29	chr21:45575400-45580400	Weak transcription	NHDF-Ad	bronchial
30	chr21:45575400-45583400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr21:45575400-45586000	Weak transcription	Fetal Lung	lung
32	chr21:45575400-45592000	Weak transcription	Fetal Brain Female	brain
33	chr21:45575600-45577200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr21:45575600-45577200	Enhancers	Rectal Mucosa Donor 29	rectum
35	chr21:45575600-45578000	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr21:45575600-45579000	Weak transcription	Brain Anterior Caudate	brain
37	chr21:45575600-45584800	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr21:45575800-45577200	Enhancers	Primary B cells from peripheral blood	blood
39	chr21:45575800-45577600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr21:45575800-45577600	Weak transcription	Right Atrium	heart
41	chr21:45575800-45579000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr21:45575800-45579200	Weak transcription	Brain Angular Gyrus	brain
43	chr21:45575800-45579200	Weak transcription	Fetal Intestine Small	intestine
44	chr21:45575800-45579400	Weak transcription	Gastric	stomach
45	chr21:45575800-45579400	Weak transcription	HSMM	muscle
46	chr21:45576000-45578400	Enhancers	Fetal Muscle Leg	muscle
47	chr21:45576000-45579000	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr21:45576000-45579000	Weak transcription	Colon Smooth Muscle	Colon
49	chr21:45576000-45579000	Weak transcription	HSMMtube	muscle
50	chr21:45576000-45579200	Weak transcription	Fetal Heart	heart

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