Variant report

Variant	nsv587816
Chromosome Location	chr21:46307495-46322853
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:475)
CpG islands
(count:428)
Chromatin interactive
region (count:51)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:475 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr21:46312701-46312873	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr21:46315890-46316152	H1-hESC	embryonic stem cell:	n/a	n/a
3	BATF	chr21:46312714-46312963	GM12878	blood:	n/a	n/a
4	BCL3	chr21:46321587-46322853	GM12878	blood:	n/a	n/a
5	BCL3	chr21:46317960-46318245	GM12878	blood:	n/a	n/a
6	BCL3	chr21:46317916-46318300	GM12878	blood:	n/a	n/a
7	BCL3	chr21:46315804-46316235	GM12878	blood:	n/a	n/a
8	BCL3	chr21:46315730-46316197	GM12878	blood:	n/a	n/a
9	BCL3	chr21:46321595-46322933	GM12878	blood:	n/a	n/a
10	BCLAF1	chr21:46312610-46313056	GM12878	blood:	n/a	n/a
11	BHLHE40	chr21:46320535-46320773	K562	blood:	n/a	n/a
12	BHLHE40	chr21:46318751-46319005	K562	blood:	n/a	chr21:46318868-46318881 chr21:46318871-46318880 chr21:46318864-46318885 chr21:46318870-46318879 chr21:46318870-46318879
13	BHLHE40	chr21:46316552-46316761	K562	blood:	n/a	n/a
14	BHLHE40	chr21:46317514-46317845	K562	blood:	n/a	n/a
15	BHLHE40	chr21:46312736-46313013	HepG2	liver:	n/a	n/a
16	BHLHE40	chr21:46312714-46313005	GM12878	blood:	n/a	n/a
17	BHLHE40	chr21:46321460-46321632	K562	blood:	n/a	n/a
18	BRCA1	chr21:46312872-46313022	GM12878	blood:	n/a	n/a
19	BRCA1	chr21:46322316-46322373	GM12878	blood:	n/a	n/a
20	CBX3	chr21:46317488-46317843	K562	blood:	n/a	n/a
21	CEBPB	chr21:46315827-46316010	IMR90	lung:	n/a	n/a
22	CEBPB	chr21:46316260-46316460	K562	blood:	n/a	n/a
23	CEBPB	chr21:46307597-46307702	HepG2	liver:	n/a	n/a
24	CHD2	chr21:46312726-46313067	GM12878	blood:	n/a	n/a
25	CTCF	chr21:46312744-46313003	GM10248	blood:	n/a	n/a
26	CTCF	chr21:46312726-46313019	Lung_OC	lung:	n/a	n/a
27	CTCF	chr21:46312820-46312970	GM12872	blood:	n/a	n/a
28	CTCF	chr21:46312740-46312890	HEEpiC	esophagus:	n/a	n/a
29	CTCF	chr21:46312760-46312910	GM12872	blood:	n/a	n/a
30	CTCF	chr21:46312780-46312930	GM06990	blood:	n/a	n/a
31	CTCF	chr21:46312000-46312150	BJ	skin:	n/a	chr21:46312083-46312096
32	CTCF	chr21:46313349-46313387	GM12891	blood:	n/a	n/a
33	CTCF	chr21:46308780-46308930	HMEC	breast:	n/a	n/a
34	CTCF	chr21:46312820-46312970	Hela-S3	cervix:	n/a	n/a
35	CTCF	chr21:46312697-46312979	HepG2	liver:	n/a	n/a
36	CTCF	chr21:46312800-46312950	GM06990	blood:	n/a	n/a
37	CTCF	chr21:46312780-46312930	HPAF	blood vessel:	n/a	n/a
38	CTCF	chr21:46312800-46312950	BE2_C	brain:	n/a	n/a
39	CTCF	chr21:46312752-46312992	MCF-7	breast:	n/a	n/a
40	CTCF	chr21:46311800-46311950	GM12875	blood:	n/a	n/a
41	CTCF	chr21:46312820-46312970	BE2_C	brain:	n/a	n/a
42	CTCF	chr21:46308841-46308845	GM12891	blood:	n/a	n/a
43	CTCF	chr21:46312780-46312930	GM12864	blood:	n/a	n/a
44	CTCF	chr21:46312780-46312930	GM12866	blood:	n/a	n/a
45	CTCF	chr21:46312800-46312950	AG04449	skin:	n/a	n/a
46	CTCF	chr21:46312751-46312992	LNCaP	prostate:	n/a	n/a
47	CTCF	chr21:46310440-46310590	HepG2	liver:	n/a	n/a
48	CTCF	chr21:46312780-46312930	HFF-Myc	foreskin:	n/a	n/a
49	CTCF	chr21:46313220-46313370	MCF-7	breast:	n/a	n/a
50	CTCF	chr21:46313840-46313990	HEEpiC	esophagus:	n/a	n/a

(count:428 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:46321585-46321635	AG09309	skin:	n/a
2	chr21:46321585-46321635	AG09309	skin:	n/a
3	chr21:46321529-46321579	AG04450	lung:	fetal
4	chr21:46320816-46320866	SK-N-MC	brain:	n/a
5	chr21:46321585-46321635	HL-60	blood:	n/a
6	chr21:46320816-46320866	HEK293	kidney:	embryo
7	chr21:46321529-46321579	GM12891	blood:	n/a
8	chr21:46309899-46309949	HL-60	blood:	n/a
9	chr21:46321415-46321465	Caco-2	colon:	n/a
10	chr21:46321529-46321579	HMEC	breast:	n/a
11	chr21:46321415-46321465	NB4	blood:	n/a
12	chr21:46321529-46321579	A549	lung:	n/a
13	chr21:46320816-46320866	HepG2	liver:	n/a
14	chr21:46308308-46308358	HPAEpiC	pulmonary alveolar:	n/a
15	chr21:46317913-46317963	MCF10A-Er-Src	breast:	n/a
16	chr21:46308308-46308358	SK-N-SH	brain:	n/a
17	chr21:46309899-46309949	A549	lung:	n/a
18	chr21:46321415-46321465	PrEC	prostate:	n/a
19	chr21:46321585-46321635	A549	lung:	n/a
20	chr21:46321585-46321635	LNCaP	prostate:	n/a
21	chr21:46320816-46320866	K562	blood:	n/a
22	chr21:46308308-46308358	HEK293	kidney:	embryo
23	chr21:46320816-46320866	GM19239	blood:	n/a
24	chr21:46309899-46309949	SK-N-SH	brain:	n/a
25	chr21:46317913-46317963	HEEpiC	esophagus:	n/a
26	chr21:46317913-46317963	HCM	heart:	n/a
27	chr21:46321415-46321465	RPTEC	kidney:	n/a
28	chr21:46321529-46321579	Hela-S3	cervix:	n/a
29	chr21:46321415-46321465	AG09309	skin:	n/a
30	chr21:46308308-46308358	HUVEC	blood vessel:	n/a
31	chr21:46309899-46309949	ECC-1	luminal epithelium:	n/a
32	chr21:46308308-46308358	Hepatocyte	liver:	n/a
33	chr21:46309899-46309949	SK-N-MC	brain:	n/a
34	chr21:46308308-46308358	NHBE	bronchial:	n/a
35	chr21:46317913-46317963	SK-N-SH	brain:	n/a
36	chr21:46321585-46321635	AG09319	gingival:	n/a
37	chr21:46321585-46321635	HUVEC	blood vessel:	n/a
38	chr21:46321585-46321635	GM12892	blood:	n/a
39	chr21:46321415-46321465	HNPCEpiC	eye:	n/a
40	chr21:46308308-46308358	HCPEpiC	choroid plexus:	n/a
41	chr21:46309899-46309949	HRCEpiC	kidney:	n/a
42	chr21:46321585-46321635	HRCEpiC	kidney:	n/a
43	chr21:46308308-46308358	SAEC	small airway:	n/a
44	chr21:46321415-46321465	GM12892	blood:	n/a
45	chr21:46321415-46321465	SK-N-SH	brain:	n/a
46	chr21:46308308-46308358	H1-hESC	embryonic stem cell:	embryo
47	chr21:46321529-46321579	AG10803	skin:	n/a
48	chr21:46320816-46320866	Hela-S3	cervix:	n/a
49	chr21:46321585-46321635	HPAEpiC	pulmonary alveolar:	n/a
50	chr21:46320816-46320866	NHDF-neo	bronchial:	n/a

(count:51 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr21:46318344..46319977-chr21:46333551..46335219,2	K562	blood:
2	chr21:46308445..46311760-chr21:46312994..46317779,5	MCF-7	breast:
3	chr21:46220374..46222087-chr21:46311415..46314337,2	MCF-7	breast:
4	chr21:46256501..46258560-chr21:46321252..46323907,2	MCF-7	breast:
5	chr21:46312837..46313337-chr21:46556640..46557461,2	MCF-7	breast:
6	chr21:46318143..46320481-chr21:46398627..46400161,2	MCF-7	breast:
7	chr21:46305916..46307497-chr21:46310208..46311979,2	K562	blood:
8	chr21:46308444..46311023-chr21:46311109..46314097,2	K562	blood:
9	chr21:46308444..46311023-chr21:46311109..46314097,2	K562	blood:
10	chr21:46305916..46307497-chr21:46310208..46311979,2	K562	blood:
11	chr21:46317185..46319970-chr21:46346756..46348344,2	K562	blood:
12	chr21:46314995..46317658-chr21:46493594..46495641,2	MCF-7	breast:
13	chr21:46291242..46294677-chr21:46316286..46321756,7	MCF-7	breast:
14	chr21:46312327..46313095-chr21:46369785..46370381,2	MCF-7	breast:
15	chr21:46311011..46312549-chr21:46331401..46334263,2	MCF-7	breast:
16	chr21:46236410..46239097-chr21:46320402..46324022,3	MCF-7	breast:
17	chr21:46316977..46318505-chr21:46320167..46321939,2	K562	blood:
18	chr21:46291446..46293976-chr21:46322203..46327064,4	MCF-7	breast:
19	chr21:46274218..46276249-chr21:46318911..46322162,3	K562	blood:
20	chr21:46312115..46313034-chr21:46396249..46397039,3	MCF-7	breast:
21	chr21:46312626..46313347-chr21:46331279..46332145,7	MCF-7	breast:
22	chr21:46300926..46303863-chr21:46305072..46307882,3	K562	blood:
23	chr21:46308445..46311760-chr21:46312994..46317779,5	MCF-7	breast:
24	chr21:46236519..46238760-chr21:46309714..46312621,3	MCF-7	breast:
25	chr21:46292148..46294278-chr21:46308549..46311972,5	MCF-7	breast:
26	chr21:46302013..46304883-chr21:46310101..46313045,3	K562	blood:
27	chr21:46311571..46315571-chr21:46316327..46319914,4	K562	blood:
28	chr21:46288400..46294755-chr21:46304910..46312238,10	K562	blood:
29	chr21:46312763..46313309-chr21:46347485..46348262,2	MCF-7	breast:
30	chr21:46285482..46288366-chr21:46310550..46312529,2	K562	blood:
31	chr21:46312645..46315833-chr21:46316053..46319388,3	K562	blood:
32	chr21:46297404..46300174-chr21:46309190..46311154,2	MCF-7	breast:
33	chr21:46297060..46299984-chr21:46306627..46308180,2	MCF-7	breast:
34	chr21:46316977..46318505-chr21:46320167..46321939,2	K562	blood:
35	chr21:46319170..46322090-chr21:46324172..46325775,2	K562	blood:
36	chr21:46220554..46223722-chr21:46306934..46310028,3	MCF-7	breast:
37	chr21:46314850..46316608-chr21:46322131..46323890,2	K562	blood:
38	chr21:46221113..46222920-chr21:46311601..46314491,2	K562	blood:
39	chr21:46320135..46322797-chr21:46323413..46327575,5	K562	blood:
40	chr21:46227093..46229223-chr21:46316542..46319041,2	K562	blood:
41	chr21:46292296..46294374-chr21:46306202..46308444,3	K562	blood:
42	chr21:46312550..46313330-chr21:46347677..46348204,2	MCF-7	breast:
43	chr21:46312416..46313322-chr21:46548220..46549072,2	MCF-7	breast:
44	chr21:46302796..46304799-chr21:46319469..46322179,2	MCF-7	breast:
45	chr21:46273736..46276118-chr21:46318911..46321245,2	K562	blood:
46	chr21:46310744..46314052-chr21:46353302..46357037,3	K562	blood:
47	chr21:46314850..46316608-chr21:46322131..46323890,2	K562	blood:
48	chr21:46222418..46224515-chr21:46321449..46323045,2	MCF-7	breast:
49	chr21:46282547..46285422-chr21:46309419..46311568,2	K562	blood:
50	chr21:46312407..46313298-chr21:46370668..46371408,2	MCF-7	breast:

No data

Variant related genes	Relation type
ITGB2	TF binding region
ITGB2	CpG island
ENSG00000183255	chromatin interactions
ENSG00000160255	chromatin interactions
ENSG00000236519	chromatin interactions
ENSG00000272825	chromatin interactions
ENSG00000197381	chromatin interactions
ENSG00000184900	chromatin interactions
ENSG00000184787	chromatin interactions
ENSG00000235374	chromatin interactions

Extended variants
information (count: 1028 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:1028 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs180318	chr21:46307495-46307496	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs145190180	chr21:46307496-46307497	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs540732942	chr21:46307516-46307517	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs137893522	chr21:46307531-46307532	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs173098	chr21:46307551-46307552	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs535026423	chr21:46307590-46307591	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs553044176	chr21:46307593-46307594	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs572025286	chr21:46307612-46307613	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs545727610	chr21:46307655-46307656	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs557610131	chr21:46307678-46307679	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs575881340	chr21:46307680-46307681	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs543245667	chr21:46307745-46307746	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs35871743	chr21:46307748-46307749	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs528937461	chr21:46307771-46307772	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs541041493	chr21:46307778-46307779	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs909427	chr21:46307844-46307845	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs80276674	chr21:46307861-46307862	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs552127969	chr21:46307871-46307872	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs541730198	chr21:46307872-46307873	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs150122673	chr21:46307876-46307877	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs373960843	chr21:46307877-46307878	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs138576253	chr21:46307884-46307885	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs567751894	chr21:46307964-46307965	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs117727950	chr21:46307968-46307969	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs189515592	chr21:46308014-46308015	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs180716752	chr21:46308026-46308027	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs149309606	chr21:46308038-46308039	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs185713629	chr21:46308047-46308048	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs147428613	chr21:46308056-46308057	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs557673704	chr21:46308110-46308111	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs372797854	chr21:46308149-46308150	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs575895344	chr21:46308184-46308185	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs543608377	chr21:46308186-46308187	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs235377	chr21:46308212-46308213	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs573694441	chr21:46308222-46308223	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs540801070	chr21:46308237-46308238	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs559466594	chr21:46308239-46308240	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs552341657	chr21:46308243-46308244	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs570557225	chr21:46308248-46308249	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs35162504	chr21:46308249-46308250	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs3054411	chr21:46308250-46308251	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs138169057	chr21:46308270-46308271	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs563980560	chr21:46308292-46308293	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs369601395	chr21:46308308-46308309	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs531063415	chr21:46308309-46308310	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs116344956	chr21:46308333-46308334	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs561358109	chr21:46308352-46308353	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs528664334	chr21:46308367-46308368	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs882549	chr21:46308441-46308442	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs571400202	chr21:46308468-46308469	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Down syndrome	17412756	CNVD
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Renal cell carcinoma	19461508	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Melanoma	18172304	CNVD
Autism	22958593	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Wilms tumour	21544195	CNVD
Ewing''s sarcoma	17952124	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute myeloid leukemia	16864856	CNVD
Mental retardation	21031080	CNVD
Polymicrogyria	21031080	CNVD
periventricular nodular heterotopia	21031080	CNVD
Myelodysplastic syndrome	21606161	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
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
small cell lung cancer	17426248	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:421 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46295600-46338800	Weak transcription	Right Atrium	heart
2	chr21:46298400-46326600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr21:46300400-46310000	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr21:46302200-46308000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr21:46302200-46309800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr21:46302400-46309600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr21:46302600-46310000	Weak transcription	Duodenum Mucosa	Duodenum
8	chr21:46303000-46310800	Weak transcription	Fetal Intestine Small	intestine
9	chr21:46304200-46308400	Weak transcription	Placenta	Placenta
10	chr21:46304400-46308600	Weak transcription	Esophagus	oesophagus
11	chr21:46304600-46313000	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr21:46305400-46308800	Enhancers	Liver	Liver
13	chr21:46305400-46311600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr21:46305400-46312000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr21:46305400-46312200	Strong transcription	Primary T helper cells PMA-I stimulated	--
16	chr21:46305400-46312200	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr21:46305400-46312200	Strong transcription	Fetal Thymus	thymus
18	chr21:46305400-46312600	Strong transcription	Primary T cells from cord blood	blood
19	chr21:46305400-46312600	Strong transcription	Thymus	Thymus
20	chr21:46305400-46312800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr21:46305400-46312800	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr21:46305400-46315000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr21:46305400-46315800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr21:46305400-46316600	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr21:46305400-46322400	Strong transcription	Dnd41	blood
26	chr21:46305400-46325000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr21:46305600-46307800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
28	chr21:46305600-46309400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr21:46305600-46311800	Strong transcription	Primary B cells from peripheral blood	blood
30	chr21:46305600-46311800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr21:46305800-46318800	Weak transcription	Gastric	stomach
32	chr21:46306000-46307800	Genic enhancers	Primary T cells fromperipheralblood	blood
33	chr21:46306000-46308200	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr21:46306000-46318400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr21:46306400-46308800	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr21:46306400-46309600	Strong transcription	Primary B cells from cord blood	blood
37	chr21:46306400-46310200	Weak transcription	Colonic Mucosa	Colon
38	chr21:46306400-46317200	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr21:46306800-46307600	Strong transcription	Primary hematopoietic stem cells	blood
40	chr21:46307000-46308600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr21:46307000-46317600	Weak transcription	GM12878-XiMat	blood
42	chr21:46307200-46312000	Genic enhancers	Spleen	Spleen
43	chr21:46307400-46308200	ZNF genes & repeats	Lung	lung
44	chr21:46307400-46308200	Enhancers	Pancreas	Pancrea
45	chr21:46307400-46308200	Flanking Active TSS	HepG2	liver
46	chr21:46307400-46308400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr21:46307600-46309800	Weak transcription	Primary hematopoietic stem cells	blood
48	chr21:46307800-46308800	Enhancers	Right Ventricle	heart
49	chr21:46307800-46309200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr21:46307800-46310400	Strong transcription	Primary T cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links