Variant report

Variant	nsv913971
Chromosome Location	chr21:46306161-46322487
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:471)
CpG islands
(count:671)
Chromatin interactive
region (count:53)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:471 , 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	chr21:46315804-46316235	GM12878	blood:	n/a	n/a
5	BCL3	chr21:46317960-46318245	GM12878	blood:	n/a	n/a
6	BCL3	chr21:46321595-46322933	GM12878	blood:	n/a	n/a
7	BCL3	chr21:46321587-46322853	GM12878	blood:	n/a	n/a
8	BCL3	chr21:46317916-46318300	GM12878	blood:	n/a	n/a
9	BCL3	chr21:46315730-46316197	GM12878	blood:	n/a	n/a
10	BCLAF1	chr21:46312610-46313056	GM12878	blood:	n/a	n/a
11	BHLHE40	chr21:46321460-46321632	K562	blood:	n/a	n/a
12	BHLHE40	chr21:46320535-46320773	K562	blood:	n/a	n/a
13	BHLHE40	chr21:46318751-46319005	K562	blood:	n/a	chr21:46318868-46318881 chr21:46318871-46318880 chr21:46318864-46318885 chr21:46318870-46318879 chr21:46318870-46318879
14	BHLHE40	chr21:46312736-46313013	HepG2	liver:	n/a	n/a
15	BHLHE40	chr21:46317514-46317845	K562	blood:	n/a	n/a
16	BHLHE40	chr21:46316552-46316761	K562	blood:	n/a	n/a
17	BHLHE40	chr21:46312714-46313005	GM12878	blood:	n/a	n/a
18	BRCA1	chr21:46322316-46322373	GM12878	blood:	n/a	n/a
19	BRCA1	chr21:46312872-46313022	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	chr21:46312800-46312950	HCFaa	heart:	n/a	n/a
26	CTCF	chr21:46312760-46312910	HFF-Myc	foreskin:	n/a	n/a
27	CTCF	chr21:46312800-46312950	SK-N-SH_RA	brain:	n/a	n/a
28	CTCF	chr21:46308680-46308830	GM12866	blood:	n/a	n/a
29	CTCF	chr21:46312800-46312950	GM12872	blood:	n/a	n/a
30	CTCF	chr21:46312740-46312890	HEEpiC	esophagus:	n/a	n/a
31	CTCF	chr21:46312780-46312930	HPAF	blood vessel:	n/a	n/a
32	CTCF	chr21:46312728-46313008	Hela-S3	cervix:	n/a	n/a
33	CTCF	chr21:46312820-46312970	HMEC	breast:	n/a	n/a
34	CTCF	chr21:46312800-46312950	HL-60	blood:	n/a	n/a
35	CTCF	chr21:46312760-46312910	HMF	breast:	n/a	n/a
36	CTCF	chr21:46308760-46308910	GM06990	blood:	n/a	n/a
37	CTCF	chr21:46313161-46313202	K562	blood:	n/a	n/a
38	CTCF	chr21:46312706-46312989	SK-N-SH_RA	brain:	n/a	n/a
39	CTCF	chr21:46312760-46312910	NB4	blood:	n/a	n/a
40	CTCF	chr21:46314200-46314350	K562	blood:	n/a	n/a
41	CTCF	chr21:46312720-46313107	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTCF	chr21:46312800-46312950	GM12801	blood:	n/a	n/a
43	CTCF	chr21:46312760-46312910	GM12868	blood:	n/a	n/a
44	CTCF	chr21:46312780-46312930	HVMF	connective:	n/a	n/a
45	CTCF	chr21:46312820-46312970	NHEK	skin:	n/a	n/a
46	CTCF	chr21:46313560-46313710	HAc	cerebellar:	n/a	n/a
47	CTCF	chr21:46313840-46313990	HEEpiC	esophagus:	n/a	n/a
48	CTCF	chr21:46312780-46312930	GM12867	blood:	n/a	n/a
49	CTCF	chr21:46313100-46313250	GM12870	blood:	n/a	n/a
50	CTCF	chr21:46312800-46312950	A549	lung:	n/a	n/a

(count:671 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:46306688-46306738	HRE	kidney:	n/a
2	chr21:46306224-46306274	HRCEpiC	kidney:	n/a
3	chr21:46321415-46321465	A549	lung:	n/a
4	chr21:46321585-46321635	MCF-7	breast:	n/a
5	chr21:46306700-46306750	PFSK-1	brain:	n/a
6	chr21:46308308-46308358	HL-60	blood:	n/a
7	chr21:46317913-46317963	SK-N-MC	brain:	n/a
8	chr21:46306688-46306738	U87	brain:	n/a
9	chr21:46306700-46306750	Jurkat	blood:	n/a
10	chr21:46321415-46321465	HEEpiC	esophagus:	n/a
11	chr21:46321585-46321635	PFSK-1	brain:	n/a
12	chr21:46309899-46309949	LNCaP	prostate:	n/a
13	chr21:46320816-46320866	Hela-S3	cervix:	n/a
14	chr21:46306794-46306844	NB4	blood:	n/a
15	chr21:46321415-46321465	Hela-S3	cervix:	n/a
16	chr21:46320816-46320866	HL-60	blood:	n/a
17	chr21:46320816-46320866	HCPEpiC	choroid plexus:	n/a
18	chr21:46320816-46320866	AG04449	skin:	fetal
19	chr21:46317913-46317963	NHBE	bronchial:	n/a
20	chr21:46317913-46317963	A549	lung:	n/a
21	chr21:46306224-46306274	Jurkat	blood:	n/a
22	chr21:46321529-46321579	GM19239	blood:	n/a
23	chr21:46320816-46320866	MCF10A-Er-Src	breast:	n/a
24	chr21:46321585-46321635	MCF10A-Er-Src	breast:	n/a
25	chr21:46306688-46306738	Hela-S3	cervix:	n/a
26	chr21:46320816-46320866	AG09319	gingival:	n/a
27	chr21:46306794-46306844	LNCaP	prostate:	n/a
28	chr21:46309899-46309949	PANC-1	pancreas:	n/a
29	chr21:46306688-46306738	ECC-1	luminal epithelium:	n/a
30	chr21:46306688-46306738	ProgFib	skin:	n/a
31	chr21:46306700-46306750	HMEC	breast:	n/a
32	chr21:46320816-46320866	BE2_C	brain:	n/a
33	chr21:46306700-46306750	SK-N-MC	brain:	n/a
34	chr21:46317913-46317963	NT2-D1	testis:	n/a
35	chr21:46321415-46321465	U87	brain:	n/a
36	chr21:46321585-46321635	AoSMC	blood vessel:	n/a
37	chr21:46308308-46308358	IMR90	lung:	fetal
38	chr21:46306224-46306274	A549	lung:	n/a
39	chr21:46321585-46321635	HNPCEpiC	eye:	n/a
40	chr21:46306700-46306750	MCF-7	breast:	n/a
41	chr21:46306224-46306274	HNPCEpiC	eye:	n/a
42	chr21:46317913-46317963	HCPEpiC	choroid plexus:	n/a
43	chr21:46306794-46306844	Hela-S3	cervix:	n/a
44	chr21:46308308-46308358	GM19239	blood:	n/a
45	chr21:46308308-46308358	H1-hESC	embryonic stem cell:	embryo
46	chr21:46306794-46306844	GM12891	blood:	n/a
47	chr21:46306688-46306738	GM12891	blood:	n/a
48	chr21:46306700-46306750	AG09319	gingival:	n/a
49	chr21:46320816-46320866	MCF-7	breast:	n/a
50	chr21:46321585-46321635	HEK293	kidney:	embryo

(count:53 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr21:46292148..46294278-chr21:46308549..46311972,5	MCF-7	breast:
2	chr21:46312327..46313095-chr21:46369785..46370381,2	MCF-7	breast:
3	chr21:46292296..46294374-chr21:46306202..46308444,3	K562	blood:
4	chr21:46282547..46285422-chr21:46309419..46311568,2	K562	blood:
5	chr21:46318143..46320481-chr21:46398627..46400161,2	MCF-7	breast:
6	chr21:46288400..46294755-chr21:46304910..46312238,10	K562	blood:
7	chr21:46310744..46314052-chr21:46353302..46357037,3	K562	blood:
8	chr21:46319170..46322090-chr21:46324172..46325775,2	K562	blood:
9	chr21:46312763..46313309-chr21:46347485..46348262,2	MCF-7	breast:
10	chr21:46314850..46316608-chr21:46322131..46323890,2	K562	blood:
11	chr21:46297060..46299984-chr21:46306627..46308180,2	MCF-7	breast:
12	chr21:46300926..46303863-chr21:46305072..46307882,3	K562	blood:
13	chr21:46312407..46313298-chr21:46370668..46371408,2	MCF-7	breast:
14	chr21:46308445..46311760-chr21:46312994..46317779,5	MCF-7	breast:
15	chr21:46305916..46307497-chr21:46310208..46311979,2	K562	blood:
16	chr21:46302013..46304883-chr21:46310101..46313045,3	K562	blood:
17	chr21:46236362..46238915-chr21:46304111..46306677,3	MCF-7	breast:
18	chr21:46236519..46238760-chr21:46309714..46312621,3	MCF-7	breast:
19	chr21:46236410..46239097-chr21:46320402..46324022,3	MCF-7	breast:
20	chr21:46312645..46315833-chr21:46316053..46319388,3	K562	blood:
21	chr21:46311571..46315571-chr21:46316327..46319914,4	K562	blood:
22	chr21:46220554..46223722-chr21:46306934..46310028,3	MCF-7	breast:
23	chr21:46314995..46317658-chr21:46493594..46495641,2	MCF-7	breast:
24	chr21:46311011..46312549-chr21:46331401..46334263,2	MCF-7	breast:
25	chr21:46297404..46300174-chr21:46309190..46311154,2	MCF-7	breast:
26	chr21:46318344..46319977-chr21:46333551..46335219,2	K562	blood:
27	chr21:46221113..46222920-chr21:46311601..46314491,2	K562	blood:
28	chr21:46222418..46224515-chr21:46321449..46323045,2	MCF-7	breast:
29	chr21:46317185..46319970-chr21:46346756..46348344,2	K562	blood:
30	chr21:46312550..46313330-chr21:46347677..46348204,2	MCF-7	breast:
31	chr21:46256501..46258560-chr21:46321252..46323907,2	MCF-7	breast:
32	chr21:46320135..46322797-chr21:46323413..46327575,5	K562	blood:
33	chr21:46285482..46288366-chr21:46310550..46312529,2	K562	blood:
34	chr21:46308445..46311760-chr21:46312994..46317779,5	MCF-7	breast:
35	chr21:46308444..46311023-chr21:46311109..46314097,2	K562	blood:
36	chr21:46314850..46316608-chr21:46322131..46323890,2	K562	blood:
37	chr21:46316977..46318505-chr21:46320167..46321939,2	K562	blood:
38	chr21:46316977..46318505-chr21:46320167..46321939,2	K562	blood:
39	chr21:46312546..46313391-chr21:46369370..46370376,3	MCF-7	breast:
40	chr21:46312626..46313347-chr21:46331279..46332145,7	MCF-7	breast:
41	chr21:46220374..46222087-chr21:46311415..46314337,2	MCF-7	breast:
42	chr21:46308444..46311023-chr21:46311109..46314097,2	K562	blood:
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	chr21:46227093..46229223-chr21:46316542..46319041,2	K562	blood:
47	chr21:46312115..46313034-chr21:46396249..46397039,3	MCF-7	breast:
48	chr21:46305916..46307497-chr21:46310208..46311979,2	K562	blood:
49	chr21:46274218..46276249-chr21:46318911..46322162,3	K562	blood:
50	chr21:46291446..46293976-chr21:46322203..46327064,4	MCF-7	breast:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	ITGB2	hsa-miR-335-5p	chr21:46306199-46306221

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

Extended variants
information (count: 1083 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:1083 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs684	chr21:46306161-46306162	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs375146934	chr21:46306162-46306163	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs533855262	chr21:46306230-46306231	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs114632253	chr21:46306245-46306246	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs377464416	chr21:46306259-46306260	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs199697863	chr21:46306260-46306261	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs375133952	chr21:46306276-46306277	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs368180990	chr21:46306282-46306283	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs372064061	chr21:46306291-46306292	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs192197684	chr21:46306310-46306311	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs145385843	chr21:46306313-46306314	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs542061261	chr21:46306314-46306315	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs200448015	chr21:46306316-46306317	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs375931424	chr21:46306325-46306326	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs572463215	chr21:46306329-46306330	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs376017684	chr21:46306392-46306393	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs546316064	chr21:46306434-46306435	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs564551987	chr21:46306457-46306458	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs552613631	chr21:46306467-46306468	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs531788752	chr21:46306470-46306471	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs235375	chr21:46306472-46306473	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs111929121	chr21:46306488-46306489	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs529950915	chr21:46306507-46306508	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs376883550	chr21:46306516-46306517	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs371572471	chr21:46306517-46306518	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs548104156	chr21:46306573-46306574	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs560257158	chr21:46306582-46306583	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs33973568	chr21:46306594-46306595	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs5030673	chr21:46306607-46306608	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs200806837	chr21:46306611-46306612	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs372185176	chr21:46306632-46306633	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs369454546	chr21:46306640-46306641	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs147248229	chr21:46306641-46306642	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs372892354	chr21:46306642-46306643	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs372176947	chr21:46306687-46306688	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs138714119	chr21:46306688-46306689	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs568682818	chr21:46306689-46306690	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs375930896	chr21:46306708-46306709	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs140767058	chr21:46306709-46306710	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs200118567	chr21:46306715-46306716	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs179363872	chr21:46306751-46306752	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs144590448	chr21:46306753-46306754	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs373668784	chr21:46306756-46306757	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs138050043	chr21:46306777-46306778	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs202203340	chr21:46306782-46306783	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs373065825	chr21:46306785-46306786	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs540038454	chr21:46306794-46306795	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs149804641	chr21:46306844-46306845	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs201201675	chr21:46306860-46306861	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs371530416	chr21:46306866-46306867	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 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:415 , 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	chr21:46296000-46307400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr21:46298400-46326600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr21:46300400-46310000	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr21:46302200-46308000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr21:46302200-46309800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr21:46302400-46309600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr21:46302600-46306800	Weak transcription	Lung	lung
9	chr21:46302600-46310000	Weak transcription	Duodenum Mucosa	Duodenum
10	chr21:46302800-46306400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr21:46303000-46310800	Weak transcription	Fetal Intestine Small	intestine
12	chr21:46303600-46306400	Weak transcription	Primary B cells from cord blood	blood
13	chr21:46303800-46306800	Weak transcription	Primary hematopoietic stem cells	blood
14	chr21:46304200-46308400	Weak transcription	Placenta	Placenta
15	chr21:46304400-46308600	Weak transcription	Esophagus	oesophagus
16	chr21:46304600-46307000	Weak transcription	HepG2	liver
17	chr21:46304600-46313000	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr21:46305400-46307200	Strong transcription	Spleen	Spleen
19	chr21:46305400-46308800	Enhancers	Liver	Liver
20	chr21:46305400-46311600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr21:46305400-46312000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr21:46305400-46312200	Strong transcription	Primary T helper cells PMA-I stimulated	--
23	chr21:46305400-46312200	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr21:46305400-46312200	Strong transcription	Fetal Thymus	thymus
25	chr21:46305400-46312600	Strong transcription	Primary T cells from cord blood	blood
26	chr21:46305400-46312600	Strong transcription	Thymus	Thymus
27	chr21:46305400-46312800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr21:46305400-46312800	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr21:46305400-46315000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr21:46305400-46315800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr21:46305400-46316600	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr21:46305400-46322400	Strong transcription	Dnd41	blood
33	chr21:46305400-46325000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr21:46305600-46307800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
35	chr21:46305600-46309400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr21:46305600-46311800	Strong transcription	Primary B cells from peripheral blood	blood
37	chr21:46305600-46311800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr21:46305800-46306400	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr21:46305800-46307000	Strong transcription	GM12878-XiMat	blood
40	chr21:46305800-46318800	Weak transcription	Gastric	stomach
41	chr21:46306000-46306400	Strong transcription	Sigmoid Colon	Sigmoid Colon
42	chr21:46306000-46307800	Genic enhancers	Primary T cells fromperipheralblood	blood
43	chr21:46306000-46308200	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr21:46306000-46318400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr21:46306400-46306800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr21:46306400-46307400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr21:46306400-46308800	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr21:46306400-46309600	Strong transcription	Primary B cells from cord blood	blood
49	chr21:46306400-46310200	Weak transcription	Colonic Mucosa	Colon
50	chr21:46306400-46317200	Weak transcription	Sigmoid Colon	Sigmoid Colon

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