Variant report

Variant	nsv817935
Chromosome Location	chr21:46311264-46323731
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:409)
CpG islands
(count:427)
Chromatin interactive
region (count:47)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:409 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

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	chr21:46315730-46316197	GM12878	blood:	n/a	n/a
6	BCL3	chr21:46315804-46316235	GM12878	blood:	n/a	n/a
7	BCL3	chr21:46321595-46322933	GM12878	blood:	n/a	n/a
8	BCL3	chr21:46317916-46318300	GM12878	blood:	n/a	n/a
9	BCL3	chr21:46317960-46318245	GM12878	blood:	n/a	n/a
10	BCLAF1	chr21:46312610-46313056	GM12878	blood:	n/a	n/a
11	BHLHE40	chr21:46317514-46317845	K562	blood:	n/a	n/a
12	BHLHE40	chr21:46312714-46313005	GM12878	blood:	n/a	n/a
13	BHLHE40	chr21:46316552-46316761	K562	blood:	n/a	n/a
14	BHLHE40	chr21:46318751-46319005	K562	blood:	n/a	chr21:46318868-46318881 chr21:46318871-46318880 chr21:46318864-46318885 chr21:46318870-46318879 chr21:46318870-46318879
15	BHLHE40	chr21:46321460-46321632	K562	blood:	n/a	n/a
16	BHLHE40	chr21:46312736-46313013	HepG2	liver:	n/a	n/a
17	BHLHE40	chr21:46320535-46320773	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	chr21:46316260-46316460	K562	blood:	n/a	n/a
22	CEBPB	chr21:46315827-46316010	IMR90	lung:	n/a	n/a
23	CHD2	chr21:46312726-46313067	GM12878	blood:	n/a	n/a
24	CTCF	chr21:46312780-46312930	HFF-Myc	foreskin:	n/a	n/a
25	CTCF	chr21:46312743-46312968	A549	lung:	n/a	n/a
26	CTCF	chr21:46312780-46312930	HRPEpiC	eye:	n/a	n/a
27	CTCF	chr21:46314200-46314350	K562	blood:	n/a	n/a
28	CTCF	chr21:46312740-46312890	HEEpiC	esophagus:	n/a	n/a
29	CTCF	chr21:46312760-46312910	Caco-2	colon:	n/a	n/a
30	CTCF	chr21:46313142-46313205	GM19238	blood:	n/a	n/a
31	CTCF	chr21:46312749-46313028	A549	lung:	n/a	n/a
32	CTCF	chr21:46312638-46313198	MCF-7	breast:	n/a	n/a
33	CTCF	chr21:46312800-46312950	GM12874	blood:	n/a	n/a
34	CTCF	chr21:46312728-46313029	NHEK	skin:	n/a	n/a
35	CTCF	chr21:46312800-46312950	WI-38	lung:	n/a	n/a
36	CTCF	chr21:46312760-46312910	GM12873	blood:	n/a	n/a
37	CTCF	chr21:46312713-46313013	HUVEC	blood vessel:	n/a	n/a
38	CTCF	chr21:46312760-46312910	HVMF	connective:	n/a	n/a
39	CTCF	chr21:46312748-46313020	Fibrobl	skin:	n/a	n/a
40	CTCF	chr21:46312760-46312910	GM12870	blood:	n/a	n/a
41	CTCF	chr21:46312820-46312970	GM12872	blood:	n/a	n/a
42	CTCF	chr21:46312780-46312930	HVMF	connective:	n/a	n/a
43	CTCF	chr21:46312508-46313262	A549	lung:	n/a	n/a
44	CTCF	chr21:46312820-46312970	HepG2	liver:	n/a	n/a
45	CTCF	chr21:46312800-46312950	AG09309	skin:	n/a	n/a
46	CTCF	chr21:46312752-46312992	MCF-7	breast:	n/a	n/a
47	CTCF	chr21:46312780-46312930	GM12873	blood:	n/a	n/a
48	CTCF	chr21:46312760-46312910	HBMEC	blood vessel:	n/a	n/a
49	CTCF	chr21:46312760-46312910	NB4	blood:	n/a	n/a
50	CTCF	chr21:46312746-46313025	Medullo	brain:	n/a	n/a

(count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:46323665-46323715	ovcar-3	ovarian:	n/a
2	chr21:46321529-46321579	NHDF-neo	bronchial:	n/a
3	chr21:46323665-46323715	CMK	blood:	n/a
4	chr21:46320816-46320866	HRPEpiC	eye:	n/a
5	chr21:46323665-46323715	HEEpiC	esophagus:	n/a
6	chr21:46323665-46323715	AG09309	skin:	n/a
7	chr21:46320816-46320866	HCT-116	colon:	n/a
8	chr21:46322934-46322984	HUVEC	blood vessel:	n/a
9	chr21:46321529-46321579	AG09319	gingival:	n/a
10	chr21:46323665-46323715	HEK293	kidney:	embryo
11	chr21:46321415-46321465	SK-N-MC	brain:	n/a
12	chr21:46320816-46320866	K562	blood:	n/a
13	chr21:46321529-46321579	BE2_C	brain:	n/a
14	chr21:46317913-46317963	ovcar-3	ovarian:	n/a
15	chr21:46321415-46321465	HPAEpiC	pulmonary alveolar:	n/a
16	chr21:46321585-46321635	PANC-1	pancreas:	n/a
17	chr21:46320816-46320866	HAEpiC	amniotic membrane:	n/a
18	chr21:46320816-46320866	Hela-S3	cervix:	n/a
19	chr21:46320816-46320866	AG09309	skin:	n/a
20	chr21:46320816-46320866	NT2-D1	testis:	n/a
21	chr21:46320816-46320866	Hepatocyte	liver:	n/a
22	chr21:46317913-46317963	SAEC	small airway:	n/a
23	chr21:46321529-46321579	HRPEpiC	eye:	n/a
24	chr21:46321529-46321579	H1-hESC	embryonic stem cell:	embryo
25	chr21:46321585-46321635	PrEC	prostate:	n/a
26	chr21:46323665-46323715	Hela-S3	cervix:	n/a
27	chr21:46317913-46317963	HNPCEpiC	eye:	n/a
28	chr21:46321415-46321465	Hepatocyte	liver:	n/a
29	chr21:46322934-46322984	PFSK-1	brain:	n/a
30	chr21:46321585-46321635	HCF	heart:	n/a
31	chr21:46322934-46322984	Hepatocyte	liver:	n/a
32	chr21:46323665-46323715	ProgFib	skin:	n/a
33	chr21:46321585-46321635	SKMC	muscle:	n/a
34	chr21:46323665-46323715	HAEpiC	amniotic membrane:	n/a
35	chr21:46321415-46321465	HUVEC	blood vessel:	n/a
36	chr21:46320816-46320866	RPTEC	kidney:	n/a
37	chr21:46321415-46321465	T-47D	breast:	n/a
38	chr21:46321415-46321465	GM12878	blood:	n/a
39	chr21:46317913-46317963	NHDF-neo	bronchial:	n/a
40	chr21:46321529-46321579	GM12878	blood:	n/a
41	chr21:46322934-46322984	HRCEpiC	kidney:	n/a
42	chr21:46322934-46322984	NH-A	brain:	n/a
43	chr21:46322934-46322984	RPTEC	kidney:	n/a
44	chr21:46317913-46317963	GM06990	blood:	n/a
45	chr21:46321585-46321635	NB4	blood:	n/a
46	chr21:46323665-46323715	HCM	heart:	n/a
47	chr21:46317913-46317963	HEEpiC	esophagus:	n/a
48	chr21:46321585-46321635	U87	brain:	n/a
49	chr21:46322934-46322984	GM06990	blood:	n/a
50	chr21:46322934-46322984	GM12892	blood:	n/a

(count:47 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:46312763..46313309-chr21:46347485..46348262,2	MCF-7	breast:
2	chr21:46236410..46239097-chr21:46320402..46324022,3	MCF-7	breast:
3	chr21:46314995..46317658-chr21:46493594..46495641,2	MCF-7	breast:
4	chr21:46323100..46323793-chr21:46347666..46348595,2	MCF-7	breast:
5	chr21:46302796..46304799-chr21:46319469..46322179,2	MCF-7	breast:
6	chr21:46317185..46319970-chr21:46346756..46348344,2	K562	blood:
7	chr21:46318344..46319977-chr21:46333551..46335219,2	K562	blood:
8	chr21:46312626..46313347-chr21:46331279..46332145,7	MCF-7	breast:
9	chr21:46236519..46238760-chr21:46309714..46312621,3	MCF-7	breast:
10	chr21:46322975..46323793-chr21:46347666..46348173,2	MCF-7	breast:
11	chr21:46273736..46276118-chr21:46318911..46321245,2	K562	blood:
12	chr21:46314850..46316608-chr21:46322131..46323890,2	K562	blood:
13	chr21:46320135..46322797-chr21:46323413..46327575,5	K562	blood:
14	chr21:46316977..46318505-chr21:46320167..46321939,2	K562	blood:
15	chr21:46285482..46288366-chr21:46310550..46312529,2	K562	blood:
16	chr21:46312550..46313330-chr21:46347677..46348204,2	MCF-7	breast:
17	chr21:46311571..46315571-chr21:46316327..46319914,4	K562	blood:
18	chr21:46311011..46312549-chr21:46331401..46334263,2	MCF-7	breast:
19	chr21:46318143..46320481-chr21:46398627..46400161,2	MCF-7	breast:
20	chr21:46291242..46294677-chr21:46316286..46321756,7	MCF-7	breast:
21	chr21:46320135..46322797-chr21:46323413..46327575,5	K562	blood:
22	chr21:46308444..46311023-chr21:46311109..46314097,2	K562	blood:
23	chr21:46222418..46224515-chr21:46321449..46323045,2	MCF-7	breast:
24	chr21:46312416..46313322-chr21:46548220..46549072,2	MCF-7	breast:
25	chr21:46292148..46294278-chr21:46308549..46311972,5	MCF-7	breast:
26	chr21:46316977..46318505-chr21:46320167..46321939,2	K562	blood:
27	chr21:46288400..46294755-chr21:46304910..46312238,10	K562	blood:
28	chr21:46314850..46316608-chr21:46322131..46323890,2	K562	blood:
29	chr21:46282547..46285422-chr21:46309419..46311568,2	K562	blood:
30	chr21:46308445..46311760-chr21:46312994..46317779,5	MCF-7	breast:
31	chr21:46302013..46304883-chr21:46310101..46313045,3	K562	blood:
32	chr21:46312837..46313337-chr21:46556640..46557461,2	MCF-7	breast:
33	chr21:46274218..46276249-chr21:46318911..46322162,3	K562	blood:
34	chr21:46312407..46313298-chr21:46370668..46371408,2	MCF-7	breast:
35	chr21:46312546..46313391-chr21:46369370..46370376,3	MCF-7	breast:
36	chr21:46312115..46313034-chr21:46396249..46397039,3	MCF-7	breast:
37	chr21:46220374..46222087-chr21:46311415..46314337,2	MCF-7	breast:
38	chr21:46319170..46322090-chr21:46324172..46325775,2	K562	blood:
39	chr21:46305916..46307497-chr21:46310208..46311979,2	K562	blood:
40	chr21:46221113..46222920-chr21:46311601..46314491,2	K562	blood:
41	chr21:46310744..46314052-chr21:46353302..46357037,3	K562	blood:
42	chr21:46227093..46229223-chr21:46316542..46319041,2	K562	blood:
43	chr21:46256501..46258560-chr21:46321252..46323907,2	MCF-7	breast:
44	chr21:46312327..46313095-chr21:46369785..46370381,2	MCF-7	breast:
45	chr21:46312645..46315833-chr21:46316053..46319388,3	K562	blood:
46	chr21:46291446..46293976-chr21:46322203..46327064,4	MCF-7	breast:
47	chr21:46308445..46311760-chr21:46312994..46317779,5	MCF-7	breast:

No data

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

Extended variants
information (count: 806 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:806 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs235325	chr21:46311264-46311265	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs75646011	chr21:46311272-46311273	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs146233921	chr21:46311289-46311290	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs561820541	chr21:46311359-46311360	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs573721880	chr21:46311376-46311377	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs540990006	chr21:46311419-46311420	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs114167959	chr21:46311436-46311437	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs372391669	chr21:46311446-46311447	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs114913808	chr21:46311448-46311449	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs551965276	chr21:46311452-46311453	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs563761961	chr21:46311530-46311531	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs531111248	chr21:46311531-46311532	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs549257362	chr21:46311546-46311547	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs567739751	chr21:46311552-46311553	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs576255585	chr21:46311597-46311598	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs374787289	chr21:46311599-46311600	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs546562014	chr21:46311602-46311603	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs111730801	chr21:46311616-46311617	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs539383174	chr21:46311662-46311663	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs200111969	chr21:46311686-46311687	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs376905950	chr21:46311688-46311689	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs371344397	chr21:46311689-46311690	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs376080820	chr21:46311696-46311697	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs200732702	chr21:46311702-46311703	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs374246622	chr21:46311716-46311717	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs368194398	chr21:46311717-46311718	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs142565171	chr21:46311756-46311757	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs201739251	chr21:46311757-46311758	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs555182556	chr21:46311762-46311763	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs146014032	chr21:46311770-46311771	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs138659490	chr21:46311778-46311779	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs149279736	chr21:46311793-46311794	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs532267693	chr21:46311794-46311795	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs34737082	chr21:46311808-46311809	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs235326	chr21:46311813-46311814	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs138703739	chr21:46311816-46311817	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs372056902	chr21:46311821-46311822	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs142489611	chr21:46311830-46311831	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs147537677	chr21:46311835-46311836	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs375122306	chr21:46311862-46311863	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs367812893	chr21:46311888-46311889	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs113084585	chr21:46311889-46311890	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs140244192	chr21:46311894-46311895	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs372648325	chr21:46311914-46311915	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs375555430	chr21:46311930-46311931	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs369449149	chr21:46311942-46311943	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs149363553	chr21:46311947-46311948	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs545404093	chr21:46311980-46311981	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs144729251	chr21:46312010-46312011	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs8127060	chr21:46312018-46312019	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	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:367 , 50 per page) page: 1 2 3 4 5 6 7 8

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	chr21:46304600-46313000	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr21:46305400-46311600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr21:46305400-46312000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr21:46305400-46312200	Strong transcription	Primary T helper cells PMA-I stimulated	--
7	chr21:46305400-46312200	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr21:46305400-46312200	Strong transcription	Fetal Thymus	thymus
9	chr21:46305400-46312600	Strong transcription	Primary T cells from cord blood	blood
10	chr21:46305400-46312600	Strong transcription	Thymus	Thymus
11	chr21:46305400-46312800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr21:46305400-46312800	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr21:46305400-46315000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr21:46305400-46315800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr21:46305400-46316600	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr21:46305400-46322400	Strong transcription	Dnd41	blood
17	chr21:46305400-46325000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr21:46305600-46311800	Strong transcription	Primary B cells from peripheral blood	blood
19	chr21:46305600-46311800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr21:46305800-46318800	Weak transcription	Gastric	stomach
21	chr21:46306000-46318400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr21:46306400-46317200	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr21:46307000-46317600	Weak transcription	GM12878-XiMat	blood
24	chr21:46307200-46312000	Genic enhancers	Spleen	Spleen
25	chr21:46308200-46311800	Strong transcription	Lung	lung
26	chr21:46308200-46312600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr21:46308800-46316800	Weak transcription	Right Ventricle	heart
28	chr21:46309200-46312000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
29	chr21:46309400-46312200	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr21:46309600-46312600	Weak transcription	Primary B cells from cord blood	blood
31	chr21:46310000-46311800	Strong transcription	Primary T killer memory cells from peripheral blood	blood
32	chr21:46310200-46311400	Enhancers	Liver	Liver
33	chr21:46310200-46313200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
34	chr21:46310400-46312800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr21:46310400-46316800	Genic enhancers	Primary T cells fromperipheralblood	blood
36	chr21:46310800-46311600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr21:46311000-46311400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr21:46311000-46311600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr21:46311200-46311600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr21:46311200-46312000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
41	chr21:46311200-46312200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr21:46311200-46313800	Enhancers	HepG2	liver
43	chr21:46311200-46316000	Weak transcription	Esophagus	oesophagus
44	chr21:46311200-46317600	Weak transcription	Primary hematopoietic stem cells	blood
45	chr21:46311400-46312800	Weak transcription	Liver	Liver
46	chr21:46311600-46312000	Bivalent Enhancer	Placenta	Placenta
47	chr21:46311600-46312200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr21:46311600-46312400	Bivalent Enhancer	Fetal Stomach	stomach
49	chr21:46311600-46313800	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr21:46311600-46316400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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