Variant report

Variant	nsv1065479
Chromosome Location	chr21:45571324-45617878
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1843)
CpG islands
(count:1403)
Chromatin interactive
region (count:156)
LncRNA
region (count:25)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1843 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

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	chr21:45612981-45613248	K562	blood:	n/a	n/a
3	ATF1	chr21:45616087-45617176	K562	blood:	n/a	n/a
4	ATF1	chr21:45613617-45613918	K562	blood:	n/a	n/a
5	ATF2	chr21:45592457-45593064	GM12878	blood:	n/a	n/a
6	ATF2	chr21:45594881-45595513	GM12878	blood:	n/a	n/a
7	ATF2	chr21:45615953-45616749	GM12878	blood:	n/a	n/a
8	ATF2	chr21:45579660-45579971	GM12878	blood:	n/a	n/a
9	ATF2	chr21:45590767-45591129	GM12878	blood:	n/a	n/a
10	ATF2	chr21:45574599-45576219	GM12878	blood:	n/a	n/a
11	ATF2	chr21:45615997-45616558	GM12878	blood:	n/a	n/a
12	ATF2	chr21:45573348-45574211	GM12878	blood:	n/a	n/a
13	ATF2	chr21:45577031-45577919	GM12878	blood:	n/a	n/a
14	ATF2	chr21:45580888-45581303	GM12878	blood:	n/a	n/a
15	ATF2	chr21:45594989-45595457	GM12878	blood:	n/a	n/a
16	ATF2	chr21:45579351-45580177	GM12878	blood:	n/a	n/a
17	ATF2	chr21:45573507-45574240	GM12878	blood:	n/a	n/a
18	ATF2	chr21:45574673-45576127	GM12878	blood:	n/a	n/a
19	ATF3	chr21:45616046-45616449	K562	blood:	n/a	n/a
20	ATF3	chr21:45616127-45616350	K562	blood:	n/a	n/a
21	BACH1	chr21:45574636-45574891	K562	blood:	n/a	n/a
22	BACH1	chr21:45573147-45573381	H1-hESC	embryonic stem cell:	n/a	n/a
23	BACH1	chr21:45573797-45573958	H1-hESC	embryonic stem cell:	n/a	n/a
24	BACH1	chr21:45574691-45574884	H1-hESC	embryonic stem cell:	n/a	n/a
25	BACH1	chr21:45613623-45613858	K562	blood:	n/a	n/a
26	BATF	chr21:45616096-45616518	GM12878	blood:	n/a	n/a
27	BATF	chr21:45579698-45579966	GM12878	blood:	n/a	n/a
28	BATF	chr21:45575085-45575568	GM12878	blood:	n/a	chr21:45575398-45575407
29	BATF	chr21:45595030-45595354	GM12878	blood:	n/a	n/a
30	BATF	chr21:45579638-45580043	GM12878	blood:	n/a	n/a
31	BATF	chr21:45574628-45575896	GM12878	blood:	n/a	chr21:45575398-45575407
32	BATF	chr21:45590837-45591033	GM12878	blood:	n/a	n/a
33	BATF	chr21:45616055-45616561	GM12878	blood:	n/a	n/a
34	BATF	chr21:45604777-45605014	GM12878	blood:	n/a	n/a
35	BATF	chr21:45573531-45574205	GM12878	blood:	n/a	n/a
36	BATF	chr21:45573580-45574071	GM12878	blood:	n/a	n/a
37	BCL11A	chr21:45595063-45595453	GM12878	blood:	n/a	chr21:45595189-45595198
38	BCL11A	chr21:45604775-45605099	GM12878	blood:	n/a	chr21:45604991-45605000 chr21:45604839-45604848
39	BCL11A	chr21:45579556-45580014	GM12878	blood:	n/a	chr21:45579999-45580008
40	BCL11A	chr21:45574861-45575787	GM12878	blood:	n/a	chr21:45575009-45575022
41	BCL11A	chr21:45616016-45616587	GM12878	blood:	n/a	chr21:45616371-45616379
42	BCL11A	chr21:45594980-45595445	GM12878	blood:	n/a	chr21:45595189-45595198
43	BCL11A	chr21:45604781-45605004	GM12878	blood:	n/a	chr21:45604991-45605000 chr21:45604839-45604848
44	BCL11A	chr21:45616126-45616490	GM12878	blood:	n/a	chr21:45616371-45616379
45	BCL11A	chr21:45590769-45591060	GM12878	blood:	n/a	chr21:45591003-45591012 chr21:45591002-45591011
46	BCL11A	chr21:45573410-45574150	GM12878	blood:	n/a	n/a
47	BCL11A	chr21:45574765-45575869	GM12878	blood:	n/a	chr21:45575009-45575022
48	BCL3	chr21:45594981-45595515	GM12878	blood:	n/a	chr21:45595189-45595198
49	BCL3	chr21:45592445-45593024	GM12878	blood:	n/a	chr21:45592850-45592859 chr21:45592778-45592791 chr21:45592845-45592858
50	BCL3	chr21:45590641-45591263	A549	lung:	n/a	chr21:45590740-45590753 chr21:45591003-45591012 chr21:45591002-45591011

(count:1403 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:45575573-45575623	AoSMC	blood vessel:	n/a
2	chr21:45582448-45582498	HAEpiC	amniotic membrane:	n/a
3	chr21:45581710-45581760	HPAEpiC	pulmonary alveolar:	n/a
4	chr21:45573410-45573460	BJ	skin:	n/a
5	chr21:45583763-45583813	HL-60	blood:	n/a
6	chr21:45581541-45581591	HCF	heart:	n/a
7	chr21:45585347-45585397	AG04449	skin:	fetal
8	chr21:45576085-45576135	AG04449	skin:	fetal
9	chr21:45586587-45586637	NH-A	brain:	n/a
10	chr21:45586634-45586684	NB4	blood:	n/a
11	chr21:45575832-45575882	PANC-1	pancreas:	n/a
12	chr21:45575014-45575064	HIPEpiC	eye:	n/a
13	chr21:45581710-45581760	HCPEpiC	choroid plexus:	n/a
14	chr21:45584432-45584482	T-47D	breast:	n/a
15	chr21:45588221-45588271	HMEC	breast:	n/a
16	chr21:45586729-45586779	Caco-2	colon:	n/a
17	chr21:45578724-45578774	HEEpiC	esophagus:	n/a
18	chr21:45575014-45575064	A549	lung:	n/a
19	chr21:45579868-45579918	Caco-2	colon:	n/a
20	chr21:45586587-45586637	HL-60	blood:	n/a
21	chr21:45584432-45584482	ovcar-3	ovarian:	n/a
22	chr21:45573410-45573460	HCPEpiC	choroid plexus:	n/a
23	chr21:45586634-45586684	SK-N-SH_RA	brain:	n/a
24	chr21:45581541-45581591	AG04449	skin:	fetal
25	chr21:45581710-45581760	SKMC	muscle:	n/a
26	chr21:45578724-45578774	NT2-D1	testis:	n/a
27	chr21:45581008-45581058	HCPEpiC	choroid plexus:	n/a
28	chr21:45579868-45579918	AoSMC	blood vessel:	n/a
29	chr21:45575832-45575882	A549	lung:	n/a
30	chr21:45577667-45577717	H1-hESC	embryonic stem cell:	embryo
31	chr21:45586729-45586779	BJ	skin:	n/a
32	chr21:45579868-45579918	AG10803	skin:	n/a
33	chr21:45582448-45582498	MCF10A-Er-Src	breast:	n/a
34	chr21:45586587-45586637	SK-N-MC	brain:	n/a
35	chr21:45588221-45588271	HepG2	liver:	n/a
36	chr21:45582448-45582498	SK-N-SH	brain:	n/a
37	chr21:45582497-45582547	SKMC	muscle:	n/a
38	chr21:45588221-45588271	Caco-2	colon:	n/a
39	chr21:45588221-45588271	PrEC	prostate:	n/a
40	chr21:45575014-45575064	GM12892	blood:	n/a
41	chr21:45578724-45578774	RPTEC	kidney:	n/a
42	chr21:45582448-45582498	K562	blood:	n/a
43	chr21:45581541-45581591	AoSMC	blood vessel:	n/a
44	chr21:45575573-45575623	PANC-1	pancreas:	n/a
45	chr21:45588221-45588271	HRE	kidney:	n/a
46	chr21:45582448-45582498	HRCEpiC	kidney:	n/a
47	chr21:45581541-45581591	A549	lung:	n/a
48	chr21:45578724-45578774	MCF-7	breast:	n/a
49	chr21:45586634-45586684	ProgFib	skin:	n/a
50	chr21:45581710-45581760	HUVEC	blood vessel:	n/a

(count:156 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr21:45563215..45565745-chr21:45586840..45589212,2	K562	blood:
2	chr21:45585105..45587021-chr21:45670091..45672231,2	MCF-7	breast:
3	chr21:45572891..45575841-chr21:45596465..45598354,2	MCF-7	breast:
4	chr21:45584708..45587339-chr21:45625931..45628312,2	MCF-7	breast:
5	chr21:45567167..45569134-chr21:45587063..45589096,2	MCF-7	breast:
6	chr21:45611519..45615384-chr21:45659181..45663993,7	MCF-7	breast:
7	chr21:45603147..45604698-chr21:45662988..45665089,2	MCF-7	breast:
8	chr21:45574118..45574672-chr21:45616064..45616668,2	MCF-7	breast:
9	chr21:45605212..45608621-chr21:45608817..45614047,5	K562	blood:
10	chr21:45590150..45592594-chr21:45724156..45726661,2	K562	blood:
11	chr21:45576440..45578362-chr21:45598205..45599792,2	K562	blood:
12	chr21:45613209..45613813-chr21:45623826..45624382,2	NB4	blood:
13	chr21:45557116..45559735-chr21:45615528..45618206,3	MCF-7	breast:
14	chr21:45571525..45573288-chr21:45660797..45662327,2	MCF-7	breast:
15	chr21:45571309..45577111-chr21:45620650..45624145,5	MCF-7	breast:
16	chr21:45569589..45572040-chr21:45680760..45682993,2	MCF-7	breast:
17	chr21:45616221..45617876-chr21:45625272..45628231,2	K562	blood:
18	chr21:45595723..45596653-chr21:45604850..45605608,2	MCF-7	breast:
19	chr21:45594851..45596784-chr21:45598331..45600362,2	K562	blood:
20	chr21:45590816..45593183-chr21:45606288..45608423,2	K562	blood:
21	chr21:45571301..45575033-chr21:45652281..45654701,3	MCF-7	breast:
22	chr21:45566699..45568772-chr21:45598220..45601195,2	K562	blood:
23	chr21:45590531..45598113-chr21:45625237..45630055,9	MCF-7	breast:
24	chr21:45582972..45588290-chr21:45588610..45593083,12	MCF-7	breast:
25	chr21:45556726..45571792-chr21:45714286..45731454,46	K562	blood:
26	chr21:45591553..45593385-chr21:45718881..45721129,2	MCF-7	breast:
27	chr21:45571920..45573873-chr21:45586886..45589109,2	MCF-7	breast:
28	chr21:45571920..45573873-chr21:45586886..45589109,2	MCF-7	breast:
29	chr21:45570082..45570694-chr21:45595663..45596552,2	MCF-7	breast:
30	chr21:45595676..45596715-chr21:45615636..45617128,25	MCF-7	breast:
31	chr21:45604514..45606458-chr21:45660258..45661814,2	MCF-7	breast:
32	chr21:45615189..45618434-chr21:45625221..45628569,5	MCF-7	breast:
33	chr21:45579145..45582773-chr21:45583367..45588421,9	K562	blood:
34	chr21:45573023..45575397-chr21:45576610..45579323,3	K562	blood:
35	chr21:45572891..45575841-chr21:45596465..45598354,2	MCF-7	breast:
36	chr21:45574056..45576001-chr21:45612468..45614888,2	MCF-7	breast:
37	chr21:45610065..45610976-chr21:45717590..45718626,4	MCF-7	breast:
38	chr21:45605212..45608621-chr21:45608817..45614047,5	K562	blood:
39	chr21:45595676..45596652-chr21:45615636..45617063,9	MCF-7	breast:
40	chr21:45595676..45596652-chr21:45615636..45617063,9	MCF-7	breast:
41	chr21:45586912..45588544-chr21:45664966..45667379,2	K562	blood:
42	chr21:45610778..45612309-chr21:45667999..45669878,2	MCF-7	breast:
43	chr21:45596803..45598450-chr21:45604660..45608499,3	K562	blood:
44	chr21:45567927..45569479-chr21:45614833..45617390,2	K562	blood:
45	chr21:45574061..45574890-chr21:45660301..45661132,2	MCF-7	breast:
46	chr21:45595723..45596653-chr21:45604850..45605608,2	MCF-7	breast:
47	chr21:45576170..45578304-chr21:45582737..45584575,2	K562	blood:
48	chr21:45574984..45576720-chr21:45588923..45590555,2	MCF-7	breast:
49	chr21:45580740..45582853-chr21:45588250..45590805,3	MCF-7	breast:
50	chr21:45607258..45609812-chr21:45714744..45717743,2	MCF-7	breast:

(count:25 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ICOSLG-6	chr21:45578496-45578657	XLOC_014110
2	lnc-ICOSLG-8	chr21:45586168-45586333	NONHSAT082485
3	lnc-C21orf33-4	chr21:45581050-45581158	NONHSAT082484
4	lnc-ICOSLG-5	chr21:45588000-45588356	XLOC_014111
5	lnc-ICOSLG-5	chr21:45587386-45588035	XLOC_014111
6	lnc-ICOSLG-6	chr21:45578898-45579044	XLOC_014110
7	lnc-ICOSLG-6	chr21:45578913-45579237	XLOC_014110
8	lnc-ICOSLG-6	chr21:45579162-45579237	XLOC_014110
9	lnc-ICOSLG-3	chr21:45610322-45610610	XLOC_014113
10	lnc-C21orf33-1	chr21:45595563-45596336	XLOC_013966
11	lnc-ICOSLG-6	chr21:45579708-45579959	XLOC_014110
12	lnc-ICOSLG-3	chr21:45613874-45613944	XLOC_014113
13	lnc-ICOSLG-6	chr21:45576307-45578657	XLOC_014110
14	lnc-ICOSLG-3	chr21:45614149-45614187	XLOC_014113
15	lnc-ICOSLG-6	chr21:45578913-45580684	XLOC_014110
16	lnc-ICOSLG-4	chr21:45608341-45608380	XLOC_014112
17	lnc-ICOSLG-4	chr21:45593932-45594237	XLOC_014112
18	lnc-ICOSLG-6	chr21:45579413-45579465	XLOC_014110
19	lnc-ICOSLG-6	chr21:45578623-45579237	XLOC_014110
20	lnc-C21orf33-4	chr21:45582739-45583008	NONHSAT082484
21	lnc-ICOSLG-5	chr21:45587846-45587895	XLOC_014111
22	lnc-ICOSLG-6	chr21:45579708-45579955	XLOC_014110
23	lnc-ICOSLG-8	chr21:45582933-45583221	NONHSAT082485
24	lnc-ICOSLG-5	chr21:45588105-45588335	XLOC_014111
25	lnc-C21orf33-1	chr21:45595372-45595418	XLOC_013966

No data

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

Extended variants
information (count: 2192 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:2192 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530369833	chr21:45571357-45571358	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs548608083	chr21:45571374-45571375	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs187715037	chr21:45571393-45571394	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs192747917	chr21:45571417-45571418	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs184057623	chr21:45571438-45571439	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs9975436	chr21:45571525-45571526	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs375027374	chr21:45571551-45571552	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs532335938	chr21:45571553-45571554	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs377080329	chr21:45571574-45571575	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs201897360	chr21:45571588-45571589	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs150537142	chr21:45571647-45571648	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs536514135	chr21:45571648-45571649	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs187189325	chr21:45571711-45571712	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs566443012	chr21:45571766-45571767	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs76113083	chr21:45571784-45571785	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs139548534	chr21:45571789-45571790	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs149302215	chr21:45571826-45571827	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs144562222	chr21:45571849-45571850	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs192000248	chr21:45571934-45571935	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs556674741	chr21:45571945-45571946	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs369690627	chr21:45571953-45571954	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs375241925	chr21:45571993-45571994	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs373802779	chr21:45571997-45571998	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs542479958	chr21:45572000-45572001	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs150555375	chr21:45572043-45572044	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs201012464	chr21:45572054-45572055	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs146985440	chr21:45572055-45572056	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs370644335	chr21:45572056-45572057	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs59255767	chr21:45572060-45572061	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs201732980	chr21:45572061-45572062	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs573672535	chr21:45572067-45572068	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs527670208	chr21:45572127-45572128	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs184700138	chr21:45572130-45572131	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs564568193	chr21:45572144-45572145	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs531799085	chr21:45572167-45572168	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs550022203	chr21:45572221-45572222	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs77530717	chr21:45572240-45572241	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs529878161	chr21:45572302-45572303	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs190634880	chr21:45572304-45572305	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs560816560	chr21:45572350-45572351	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs115771296	chr21:45572358-45572359	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs4818883	chr21:45572368-45572369	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs193131336	chr21:45572374-45572375	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs570119674	chr21:45572408-45572409	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs537511145	chr21:45572453-45572454	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs368210337	chr21:45572480-45572481	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs541223871	chr21:45572491-45572492	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs574953942	chr21:45572501-45572502	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs76985618	chr21:45572508-45572509	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs559898036	chr21:45572520-45572521	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:103)

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	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Down syndrome	21154855	CNVD

Chromatin state (count:1955 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45558200-45573000	Weak transcription	NH-A	brain
2	chr21:45559600-45572800	Weak transcription	Hela-S3	cervix
3	chr21:45559600-45573000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr21:45559600-45573000	Weak transcription	HMEC	breast
5	chr21:45560400-45573200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr21:45561000-45573000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr21:45561000-45584400	Weak transcription	Aorta	Aorta
8	chr21:45561200-45574200	Weak transcription	Fetal Brain Female	brain
9	chr21:45561400-45573000	Weak transcription	Small Intestine	intestine
10	chr21:45563800-45574800	Weak transcription	NHLF	lung
11	chr21:45565000-45573200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr21:45565400-45573000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr21:45565400-45580600	Weak transcription	Brain Germinal Matrix	brain
14	chr21:45565600-45573000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr21:45565600-45573200	Weak transcription	Colon Smooth Muscle	Colon
16	chr21:45566400-45575000	Weak transcription	Rectal Smooth Muscle	rectum
17	chr21:45567200-45573000	Weak transcription	Gastric	stomach
18	chr21:45567400-45572800	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr21:45567400-45572800	Weak transcription	Adipose Nuclei	Adipose
20	chr21:45567400-45572800	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr21:45567400-45573000	Weak transcription	Brain Cingulate Gyrus	brain
22	chr21:45567400-45573200	Weak transcription	Esophagus	oesophagus
23	chr21:45567400-45573200	Weak transcription	Right Atrium	heart
24	chr21:45567400-45573400	Weak transcription	Brain Angular Gyrus	brain
25	chr21:45567600-45572800	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr21:45567600-45572800	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr21:45567600-45573000	Weak transcription	Duodenum Mucosa	Duodenum
28	chr21:45567800-45573200	Weak transcription	Right Ventricle	heart
29	chr21:45568000-45572400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr21:45568000-45573000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr21:45568000-45573000	Weak transcription	Stomach Mucosa	stomach
32	chr21:45568000-45573600	Weak transcription	Brain Anterior Caudate	brain
33	chr21:45568200-45572200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr21:45568200-45572600	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr21:45568400-45572800	Weak transcription	Brain Hippocampus Middle	brain
36	chr21:45568400-45573000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr21:45568400-45573000	Weak transcription	Colonic Mucosa	Colon
38	chr21:45568400-45573000	Weak transcription	Lung	lung
39	chr21:45568600-45572800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr21:45568600-45573000	Weak transcription	Spleen	Spleen
41	chr21:45568600-45573200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr21:45569400-45572000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr21:45569600-45573000	Weak transcription	K562	blood
44	chr21:45570000-45571800	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr21:45570000-45572800	Weak transcription	Primary hematopoietic stem cells	blood
46	chr21:45570200-45572400	Weak transcription	Primary T cells from cord blood	blood
47	chr21:45570400-45573000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr21:45570600-45572200	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr21:45570600-45573000	Weak transcription	Fetal Intestine Small	intestine
50	chr21:45570600-45573000	Weak transcription	Placenta	Placenta

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