Variant report

Variant	nsv1067475
Chromosome Location	chr21:28238746-29046707
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3542)
CpG islands
(count:1406)
Chromatin interactive
region (count:53)
LncRNA
region (count:98)
Mature miRNA
region (count: 1)
miRNA target
sites (count:1)

(count:3542 , 50 per page) page: 1 2 3 4 5 6 7 ... 71

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr21:29029380-29029433	K562	blood:	n/a	n/a
2	ATF1	chr21:28410682-28410731	K562	blood:	n/a	n/a
3	ATF1	chr21:28551370-28551440	K562	blood:	n/a	n/a
4	ATF2	chr21:28282263-28282646	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr21:28339306-28339930	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr21:28337871-28338542	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr21:28749194-28749197	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr21:28869498-28869553	K562	blood:	n/a	n/a
9	BACH1	chr21:28274800-28275028	H1-hESC	embryonic stem cell:	n/a	n/a
10	BCL11A	chr21:28796414-28796670	H1-hESC	embryonic stem cell:	n/a	n/a
11	BHLHE40	chr21:28758540-28758541	HepG2	liver:	n/a	n/a
12	BHLHE40	chr21:28250946-28250973	GM12878	blood:	n/a	n/a
13	BHLHE40	chr21:28961582-28961661	GM12878	blood:	n/a	n/a
14	BRCA1	chr21:28290140-28291676	Hela-S3	cervix:	n/a	n/a
15	BRCA1	chr21:28419571-28420649	Hela-S3	cervix:	n/a	n/a
16	BRCA1	chr21:28339194-28340119	Hela-S3	cervix:	n/a	n/a
17	BRCA1	chr21:28397376-28397631	Hela-S3	cervix:	n/a	n/a
18	BRCA1	chr21:28858543-28858580	Hela-S3	cervix:	n/a	n/a
19	BRCA1	chr21:28396498-28397039	Hela-S3	cervix:	n/a	n/a
20	BRCA1	chr21:28341161-28341219	Hela-S3	cervix:	n/a	n/a
21	BRCA1	chr21:28663351-28663546	Hela-S3	cervix:	n/a	n/a
22	BRCA1	chr21:28292437-28292646	Hela-S3	cervix:	n/a	n/a
23	CCNT2	chr21:29025478-29025823	K562	blood:	n/a	n/a
24	CEBPB	chr21:28866283-28866398	A549	lung:	n/a	n/a
25	CEBPB	chr21:28647557-28647977	Hela-S3	cervix:	n/a	chr21:28647615-28647628 chr21:28647617-28647628 chr21:28647617-28647628
26	CEBPB	chr21:28591465-28591855	Hela-S3	cervix:	n/a	n/a
27	CEBPB	chr21:28396508-28397680	Hela-S3	cervix:	n/a	n/a
28	CEBPB	chr21:28933411-28933725	HepG2	liver:	n/a	chr21:28933565-28933576
29	CEBPB	chr21:28891644-28892124	IMR90	lung:	n/a	n/a
30	CEBPB	chr21:28419501-28420750	Hela-S3	cervix:	n/a	n/a
31	CEBPB	chr21:28504604-28504814	K562	blood:	n/a	chr21:28504716-28504725 chr21:28504714-28504727 chr21:28504714-28504725 chr21:28504714-28504727 chr21:28504716-28504725 chr21:28504716-28504725
32	CEBPB	chr21:29015669-29016008	IMR90	lung:	n/a	chr21:29015826-29015835 chr21:29015826-29015835 chr21:29015826-29015835 chr21:29015824-29015837 chr21:29015824-29015835 chr21:29015826-29015835 chr21:29015824-29015837 chr21:29015825-29015836 chr21:29015824-29015837
33	CEBPB	chr21:28289114-28289463	Hela-S3	cervix:	n/a	n/a
34	CEBPB	chr21:28405702-28405921	K562	blood:	n/a	chr21:28405777-28405788
35	CEBPB	chr21:28659044-28659334	HepG2	liver:	n/a	chr21:28659176-28659187 chr21:28659174-28659187 chr21:28659174-28659185
36	CEBPB	chr21:28466547-28466864	K562	blood:	n/a	chr21:28466694-28466705 chr21:28466696-28466707 chr21:28466717-28466730 chr21:28466709-28466720 chr21:28466709-28466722 chr21:28466711-28466720 chr21:28466694-28466707 chr21:28466711-28466720 chr21:28466694-28466707 chr21:28466719-28466730 chr21:28466711-28466720 chr21:28466711-28466720 chr21:28466719-28466730 chr21:28466710-28466721
37	CEBPB	chr21:28933443-28933729	H1-hESC	embryonic stem cell:	n/a	chr21:28933565-28933576
38	CEBPB	chr21:29003852-29004061	IMR90	lung:	n/a	chr21:29003988-29004000
39	CEBPB	chr21:28775851-28775929	K562	blood:	n/a	n/a
40	CEBPB	chr21:28934742-28934988	HepG2	liver:	n/a	chr21:28934834-28934845
41	CEBPB	chr21:28466544-28466856	IMR90	lung:	n/a	chr21:28466694-28466705 chr21:28466696-28466707 chr21:28466717-28466730 chr21:28466709-28466720 chr21:28466709-28466722 chr21:28466711-28466720 chr21:28466694-28466707 chr21:28466711-28466720 chr21:28466694-28466707 chr21:28466719-28466730 chr21:28466711-28466720 chr21:28466711-28466720 chr21:28466719-28466730 chr21:28466710-28466721
42	CEBPB	chr21:28431093-28431293	HepG2	liver:	n/a	n/a
43	CEBPB	chr21:28563507-28563754	IMR90	lung:	n/a	chr21:28563605-28563618 chr21:28563607-28563618
44	CEBPB	chr21:28335062-28335402	Hela-S3	cervix:	n/a	chr21:28335206-28335217 chr21:28335228-28335239
45	CEBPB	chr21:28335048-28335394	IMR90	lung:	n/a	chr21:28335206-28335217 chr21:28335228-28335239
46	CEBPB	chr21:28477592-28478003	IMR90	lung:	n/a	n/a
47	CEBPB	chr21:28662384-28662796	Hela-S3	cervix:	n/a	n/a
48	CEBPB	chr21:28319092-28319672	Hela-S3	cervix:	n/a	n/a
49	CEBPB	chr21:28466542-28466927	ECC-1	luminal epithelium:	n/a	chr21:28466694-28466705 chr21:28466696-28466707 chr21:28466717-28466730 chr21:28466709-28466720 chr21:28466709-28466722 chr21:28466711-28466720 chr21:28466694-28466707 chr21:28466711-28466720 chr21:28466694-28466707 chr21:28466719-28466730 chr21:28466711-28466720 chr21:28466711-28466720 chr21:28466719-28466730 chr21:28466710-28466721
50	CEBPB	chr21:28853049-28853475	IMR90	lung:	n/a	n/a

(count:1406 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:28339262-28339312	MCF-7	breast:	n/a
2	chr21:28339262-28339312	AG04450	lung:	fetal
3	chr21:28339477-28339527	SKMC	muscle:	n/a
4	chr21:28339262-28339312	MCF-7	breast:	n/a
5	chr21:28339262-28339312	AG04450	lung:	fetal
6	chr21:28339477-28339527	SKMC	muscle:	n/a
7	chr21:28336181-28336231	NHDF-neo	bronchial:	n/a
8	chr21:28339705-28339755	AG09309	skin:	n/a
9	chr21:28514326-28514376	HCT-116	colon:	n/a
10	chr21:28339711-28339761	SAEC	small airway:	n/a
11	chr21:28336181-28336231	HRE	kidney:	n/a
12	chr21:28336897-28336947	IMR90	lung:	fetal
13	chr21:28338836-28338886	AG09319	gingival:	n/a
14	chr21:28339477-28339527	GM19239	blood:	n/a
15	chr21:28339487-28339537	MCF-7	breast:	n/a
16	chr21:28339705-28339755	HCPEpiC	choroid plexus:	n/a
17	chr21:28339907-28339957	AG04449	skin:	fetal
18	chr21:28335945-28335995	HUVEC	blood vessel:	n/a
19	chr21:28338836-28338886	BE2_C	brain:	n/a
20	chr21:28335945-28335995	AG04449	skin:	fetal
21	chr21:28514326-28514376	HRPEpiC	eye:	n/a
22	chr21:28339487-28339537	GM06990	blood:	n/a
23	chr21:28335945-28335995	GM12892	blood:	n/a
24	chr21:28337168-28337218	SKMC	muscle:	n/a
25	chr21:28337594-28337644	Jurkat	blood:	n/a
26	chr21:28339442-28339492	AG04449	skin:	fetal
27	chr21:28516138-28516188	BE2_C	brain:	n/a
28	chr21:28337869-28337919	HEK293	kidney:	embryo
29	chr21:28516018-28516068	PrEC	prostate:	n/a
30	chr21:28340304-28340354	HAEpiC	amniotic membrane:	n/a
31	chr21:28339477-28339527	ECC-1	luminal epithelium:	n/a
32	chr21:28337594-28337644	Caco-2	colon:	n/a
33	chr21:28340304-28340354	AoSMC	blood vessel:	n/a
34	chr21:28339705-28339755	Caco-2	colon:	n/a
35	chr21:28339711-28339761	HCT-116	colon:	n/a
36	chr21:28338836-28338886	HUVEC	blood vessel:	n/a
37	chr21:28337869-28337919	AG09319	gingival:	n/a
38	chr21:28335020-28335070	HPAEpiC	pulmonary alveolar:	n/a
39	chr21:28514326-28514376	HUVEC	blood vessel:	n/a
40	chr21:28335945-28335995	GM12878	blood:	n/a
41	chr21:28337869-28337919	GM12892	blood:	n/a
42	chr21:28339262-28339312	HCPEpiC	choroid plexus:	n/a
43	chr21:28336897-28336947	LNCaP	prostate:	n/a
44	chr21:28338836-28338886	ECC-1	luminal epithelium:	n/a
45	chr21:28338836-28338886	AG04449	skin:	fetal
46	chr21:28516018-28516068	HL-60	blood:	n/a
47	chr21:28336897-28336947	HL-60	blood:	n/a
48	chr21:28515863-28515913	ovcar-3	ovarian:	n/a
49	chr21:28340304-28340354	GM12891	blood:	n/a
50	chr21:28339705-28339755	HCM	heart:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr21:28848903..28851698-chr21:28851803..28854078,3	K562	blood:
2	chr21:28848733..28850996-chr21:28945586..28948554,2	K562	blood:
3	chr21:27211146..27213931-chr21:28295313..28297044,2	K562	blood:
4	chr21:28838195..28839749-chr21:28841627..28844101,2	K562	blood:
5	chr21:28891473..28893069-chr21:28911630..28913347,2	K562	blood:
6	chr21:28838195..28839749-chr21:28841627..28844101,2	K562	blood:
7	chr21:28337173..28339180-chr21:28354765..28357609,2	K562	blood:
8	chr21:28250452..28250971-chr8:43096088..43096724,2	MCF-7	breast:
9	chr21:28324989..28327965-chr21:28329812..28331437,2	K562	blood:
10	chr21:28516145..28516651-chr3:49395305..49395818,2	HCT-116	colon:
11	chr21:28848903..28851024-chr21:28851803..28854078,2	K562	blood:
12	chr21:28848903..28851698-chr21:28851803..28854078,3	K562	blood:
13	chr1:149214859..149215379-chr21:28576875..28577395,2	MCF-7	breast:
14	chr21:28848733..28850996-chr21:28945586..28948554,2	K562	blood:
15	chr21:28608542..28610326-chr21:28613690..28615595,2	K562	blood:
16	chr21:28829911..28831572-chr21:28838186..28839877,2	K562	blood:
17	chr21:28743113..28745036-chr21:28748011..28750615,2	K562	blood:
18	chr21:28406445..28408686-chr21:28409581..28411940,2	K562	blood:
19	chr21:28249452..28250952-chr8:43095089..43096753,2	K562	blood:
20	chr21:28848903..28851024-chr21:28851803..28854078,2	K562	blood:
21	chr21:28168344..28170400-chr21:28409264..28410987,2	K562	blood:
22	chr21:28745546..28748022-chr21:28748168..28750966,2	K562	blood:
23	chr21:28394476..28396183-chr21:28398277..28400007,2	K562	blood:
24	chr21:28891473..28893069-chr21:28911630..28913347,2	K562	blood:
25	chr21:28250471..28250972-chr8:43092929..43093429,2	MCF-7	breast:
26	chr21:28339449..28341651-chr21:28350811..28353450,2	K562	blood:
27	chr21:28338416..28342134-chr21:28343036..28345210,3	K562	blood:
28	chr21:28829911..28831572-chr21:28838186..28839877,2	K562	blood:
29	chr21:28340634..28343175-chr21:28343403..28345485,2	K562	blood:
30	chr21:28670191..28672076-chr21:28673171..28674727,2	K562	blood:
31	chr21:28935406..28937759-chr21:28942464..28945414,2	K562	blood:
32	chr21:28250471..28250972-chr8:43096078..43096726,3	MCF-7	breast:
33	chr21:28250452..28251450-chr4:120183161..120184161,2	MCF-7	breast:
34	chr21:28745546..28748022-chr21:28748168..28750966,2	K562	blood:
35	chr21:28449732..28451857-chr21:28452054..28455156,3	K562	blood:
36	chr21:28339449..28341651-chr21:28350811..28353450,2	K562	blood:
37	chr21:28743113..28745036-chr21:28748011..28750615,2	K562	blood:
38	chr21:28898683..28901210-chr21:28904442..28906645,2	K562	blood:
39	chr21:28935406..28937759-chr21:28942464..28945414,2	K562	blood:
40	chr21:28436408..28438545-chr21:28440493..28442382,2	K562	blood:
41	chr21:28449732..28451857-chr21:28452054..28455156,3	K562	blood:
42	chr21:28340634..28343175-chr21:28343403..28345485,2	K562	blood:
43	chr21:28394476..28396183-chr21:28398277..28400007,2	K562	blood:
44	chr21:28898683..28901210-chr21:28904442..28906645,2	K562	blood:
45	chr21:28608542..28610326-chr21:28613690..28615595,2	K562	blood:
46	chr21:28436408..28438545-chr21:28440493..28442382,2	K562	blood:
47	chr21:28222074..28223055-chr21:28253795..28254480,2	MCF-7	breast:
48	chr21:28814417..28816406-chr21:28820762..28822994,2	K562	blood:
49	chr21:28222364..28222967-chr21:28936673..28937273,3	MCF-7	breast:
50	chr1:144533690..144534509-chr21:28474126..28474626,2	Hela-S3	cervix:

(count:98 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ADAMTS5-5	chr21:28739620-28740664	l_2188_chr21:28733501-28920917_placenta
2	lnc-ADAMTS5-5	chr21:28777149-28777261	NONHSAT081570
3	lnc-ADAMTS1-2	chr21:28290242-28292870	NONHSAT081552
4	lnc-GABPA-19	chr21:28307553-28307622	NONHSAT081553
5	lnc-USP16-13	chr21:28833511-28834077	NONHSAT081573
6	lnc-ADAMTS5-6	chr21:28942518-28942696	NONHSAT081575
7	lnc-ADAMTS5-3	chr21:28461416-28461509	NONHSAT081561
8	lnc-USP16-13	chr21:28833511-28833721	NONHSAT081572
9	lnc-ADAMTS5-3	chr21:28506430-28506538	ucscGeneNc_uc002yml_2
10	lnc-GABPA-19	chr21:28316887-28317423	NONHSAT081553
11	lnc-ADAMTS5-6	chr21:28934419-28934869	NONHSAT081575
12	lnc-ADAMTS5-5	chr21:28733502-28739560	l_2188_chr21:28733501-28920917_placenta
13	lnc-GABPA-5	chr21:28311935-28312061	ENSG00000223563.1
14	lnc-ADAMTS5-5	chr21:28920778-28920869	NONHSAT081571
15	lnc-GABPA-6	chr21:28602958-28603039	XLOC_013894
16	lnc-GABPA-6	chr21:28577172-28577305	NONHSAT081564
17	lnc-GABPA-18	chr21:28279230-28279485	NONHSAT081550
18	lnc-GABPA-20	chr21:28395456-28395509	NONHSAT081558
19	lnc-ADAMTS5-3	chr21:28457792-28457907	NONHSAT081559
20	lnc-GABPA-18	chr21:28249111-28249212	NONHSAT081550
21	lnc-GABPA-19	chr21:28307553-28307622	l_2185_NR_027246
22	lnc-ADAMTS5-3	chr21:28520074-28520181	NONHSAT081562
23	lnc-USP16-13	chr21:28833511-28834077	ucscGeneNc_uc002ymn_2
24	lnc-ADAMTS5-4	chr21:28711256-28711350	l_2187_chr21:28711255-28725596_prostate
25	lnc-USP16-13	chr21:28834246-28834547	ucscGeneNc_uc002ymn_2
26	lnc-ADAMTS5-5	chr21:28740482-28740664	NONHSAT081570
27	lnc-ADAMTS5-5	chr21:28920778-28920797	NONHSAT081570
28	lnc-ADAMTS5-5	chr21:28871412-28871591	l_2188_chr21:28733501-28920917_placenta
29	lnc-ADAMTS5-3	chr21:28506496-28506541	NONHSAT081562
30	lnc-GABPA-20	chr21:28424720-28424812	NONHSAT081555
31	lnc-ADAMTS5-4	chr21:28725315-28725451	l_2187_chr21:28711255-28725596_prostate
32	lnc-ADAMTS5-3	chr21:28522552-28522857	NONHSAT081559
33	lnc-GABPA-18	chr21:28272099-28272312	NONHSAT081550
34	lnc-GABPA-5	chr21:28282185-28282349	ENSG00000223563.1
35	lnc-ADAMTS5-4	chr21:28725568-28725596	l_2187_chr21:28711255-28725596_prostate
36	lnc-ADAMTS5-3	chr21:28416389-28416746	NONHSAT081560
37	lnc-ADAMTS5-5	chr21:28968840-28968966	NONHSAT081576
38	lnc-ADAMTS5-3	chr21:28457792-28457907	ucscGeneNc_uc002yml_2
39	lnc-ADAMTS5-5	chr21:28738741-28739001	NONHSAT081570
40	lnc-ADAMTS5-3	chr21:28506430-28506538	NONHSAT081559
41	lnc-ADAMTS5-5	chr21:28871468-28871573	NONHSAT081570
42	lnc-ADAMTS5-5	chr21:28738741-28739001	NONHSAT081571
43	lnc-ADAMTS5-3	chr21:28457792-28457907	NONHSAT081561
44	lnc-ADAMTS5-3	chr21:28511368-28511537	NONHSAT081562
45	lnc-ADAMTS5-1	chr21:28820697-28820898	ENSG00000231236.2
46	lnc-ADAMTS5-3	chr21:28410284-28414064	NONHSAT081559
47	lnc-USP16-7	chr21:29044309-29044503	XLOC_013896
48	lnc-USP16-7	chr21:29020984-29021084	XLOC_013896
49	lnc-GABPA-20	chr21:28384504-28384711	NONHSAT081557
50	lnc-GABPA-20	chr21:28342637-28342727	NONHSAT081556

miRNA name	Chromosome Location	mirBase accession
hsa-miR-4759	chr21:28326284-28326304	MIMAT0019905

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	ADAMTS5	hsa-miR-98-5p	chr21:28296062-28296056

Variant related genes	Relation type
GPX1P2	TF binding region
ENSG00000234052	TF binding region
ENSG00000231236	TF binding region
NCSTNP1	TF binding region
ENSG00000223563	TF binding region
RPL10P1	TF binding region
ENSG00000236332	TF binding region
EIF4A1P1	TF binding region
ADAMTS5	TF binding region
MIR4759	TF binding region
GPX1P2	CpG island
ENSG00000234052	CpG island
ENSG00000231236	CpG island
NCSTNP1	CpG island
ENSG00000223563	CpG island
RPL10P1	CpG island
ENSG00000236332	CpG island
EIF4A1P1	CpG island
ADAMTS5	CpG island
MIR4759	CpG island
ENSG00000201699	chromatin interactions
ENSG00000252826	chromatin interactions
ENSG00000266133	chromatin interactions
ENSG00000233276	chromatin interactions
ENSG00000231236	chromatin interactions
ENSG00000154736	chromatin interactions
ITPR1	miRNA target sites
PDE3A	miRNA target sites

Extended variants
information (count: 28590 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:28590 , 50 per page) page: 1 2 3 4 5 6 7 ... 572

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558583221	chr21:28238768-28238769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs573375041	chr21:28238785-28238786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs539949487	chr21:28240001-28240002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs548023485	chr21:28240013-28240014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs35290138	chr21:28240014-28240015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs398121555	chr21:28240022-28240023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs76842255	chr21:28240023-28240024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs367859609	chr21:28240041-28240042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs113169410	chr21:28240045-28240046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs186836313	chr21:28240065-28240066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs374174876	chr21:28240068-28240069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs150757646	chr21:28240120-28240121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs538403746	chr21:28240153-28240154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs139094468	chr21:28240166-28240167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs114765821	chr21:28240224-28240225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs77299700	chr21:28240259-28240260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs553473821	chr21:28240277-28240278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs551678588	chr21:28240329-28240330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs570554084	chr21:28240330-28240331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs191679592	chr21:28240331-28240332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs555882879	chr21:28240353-28240354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs463092	chr21:28240392-28240393	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs541576206	chr21:28240399-28240400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs149920120	chr21:28240450-28240451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs80318169	chr21:28240519-28240520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs229109	chr21:28240574-28240575	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs560263056	chr21:28240631-28240632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs140582009	chr21:28240663-28240664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs376800105	chr21:28240669-28240670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs200639559	chr21:28240681-28240682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs113232767	chr21:28240682-28240683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs71183582	chr21:28240704-28240705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs201511334	chr21:28240705-28240706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs569327781	chr21:28240766-28240767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs531867931	chr21:28240783-28240784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs116315347	chr21:28240792-28240793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs35275133	chr21:28240810-28240811	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs535362447	chr21:28240822-28240823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs114075085	chr21:28240839-28240840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs377097246	chr21:28240862-28240863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs369993691	chr21:28240980-28240981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs570345243	chr21:28241001-28241002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs78871508	chr21:28241056-28241057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs373490004	chr21:28241074-28241075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs183078097	chr21:28241081-28241082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs3085100	chr21:28241110-28241111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs66520937	chr21:28241111-28241112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs34538119	chr21:28241119-28241120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs397702915	chr21:28241120-28241121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs374095575	chr21:28241121-28241122	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
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 myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell lymphomas	19863542	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
Acute lymphoblastic leukemia	21980252	CNVD
Metanephric adenoma	20802469	CNVD
Neuroblastoma	18923191	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
Hodgkin''s lymphoma	18641027	CNVD
Alzheimer''s disease	18923514	CNVD
Alzheimer''s disease	20877625	CNVD
Follicular lymphoma	20505157	CNVD
Alzheimer''s disease	21956041	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Invasive pancreatic ductal carcinoma	16982739	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
Acute myeloid leukemia	21251322	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Ewing''s sarcoma	17952124	CNVD
Myelofibrosis	22110671	CNVD
Ovarian cancer	22174824	CNVD
Renal cell carcinoma	18765545	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	19212409	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Gastric cancer	18160780	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Mental retardation	17621639	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:3987 , 50 per page) page: 1 2 3 4 5 6 7 ... 80

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28238400-28238800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr21:28240000-28240200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr21:28240000-28240400	Enhancers	H9 Cell Line	embryonic stem cell
4	chr21:28240000-28240400	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr21:28240000-28240400	Enhancers	Osteobl	bone
6	chr21:28240000-28240600	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr21:28240200-28240600	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr21:28240600-28241600	Enhancers	Pancreas	Pancrea
9	chr21:28241600-28242400	Weak transcription	Pancreas	Pancrea
10	chr21:28242600-28242800	Enhancers	Pancreas	Pancrea
11	chr21:28248200-28249200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr21:28249200-28249400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr21:28249200-28249800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr21:28249400-28249600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr21:28249400-28249600	Active TSS	NHDF-Ad	bronchial
16	chr21:28249600-28249800	Flanking Active TSS	NHDF-Ad	bronchial
17	chr21:28249600-28253800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr21:28253600-28254600	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr21:28253800-28257000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr21:28254200-28254400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr21:28254200-28254600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr21:28254200-28255000	Enhancers	Adipose Nuclei	Adipose
23	chr21:28254200-28255400	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr21:28254400-28254600	Enhancers	Osteobl	bone
25	chr21:28254400-28256600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr21:28254600-28255200	Weak transcription	Osteobl	bone
27	chr21:28254600-28255600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr21:28254800-28255000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr21:28255000-28255400	Flanking Active TSS	Adipose Nuclei	Adipose
30	chr21:28255000-28256000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr21:28255200-28256200	Enhancers	Osteobl	bone
32	chr21:28255400-28256800	Enhancers	Adipose Nuclei	Adipose
33	chr21:28255400-28259600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr21:28255600-28257200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr21:28255800-28256800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr21:28256000-28256600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr21:28256200-28256600	Enhancers	Brain Substantia Nigra	brain
38	chr21:28256200-28259400	Weak transcription	Osteobl	bone
39	chr21:28256800-28260200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr21:28259400-28259800	Enhancers	Fetal Lung	lung
41	chr21:28259400-28260000	Enhancers	Osteobl	bone
42	chr21:28259600-28260000	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr21:28259600-28260200	Enhancers	Hela-S3	cervix
44	chr21:28260000-28261200	Weak transcription	Osteobl	bone
45	chr21:28260200-28261800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr21:28260600-28261800	Enhancers	Ovary	ovary
47	chr21:28261400-28261600	Enhancers	Osteobl	bone
48	chr21:28264000-28264800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr21:28264200-28265000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr21:28265800-28266000	Enhancers	Left Ventricle	heart

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