Variant report

Variant	nsv1058202
Chromosome Location	chr21:14706767-15628668
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3824)
CpG islands
(count:7695)
Chromatin interactive
region (count:32)
LncRNA
region (count:74)
Mature miRNA
region (count: 3)
miRNA target
sites (count:0)

(count:3824 , 50 per page) page: 1 2 3 4 5 6 7 ... 77

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr21:15295624-15295648	K562	blood:	n/a	n/a
2	ARID3A	chr21:15346022-15346251	K562	blood:	n/a	n/a
3	ARID3A	chr21:15583357-15583367	HepG2	liver:	n/a	n/a
4	ARID3A	chr21:15346922-15347270	K562	blood:	n/a	n/a
5	ATF1	chr21:15580497-15580694	K562	blood:	n/a	n/a
6	ATF1	chr21:15342677-15342811	K562	blood:	n/a	n/a
7	ATF1	chr21:15091414-15091630	K562	blood:	n/a	n/a
8	ATF1	chr21:15399569-15399789	K562	blood:	n/a	n/a
9	ATF1	chr21:15249426-15249616	K562	blood:	n/a	n/a
10	ATF2	chr21:15458789-15459416	GM12878	blood:	n/a	n/a
11	ATF2	chr21:15468299-15468933	GM12878	blood:	n/a	n/a
12	ATF2	chr21:15458823-15459284	GM12878	blood:	n/a	n/a
13	ATF2	chr21:15448799-15449234	GM12878	blood:	n/a	n/a
14	ATF2	chr21:15468353-15468867	GM12878	blood:	n/a	n/a
15	ATF2	chr21:15488328-15488936	GM12878	blood:	n/a	n/a
16	BACH1	chr21:15588533-15589188	H1-hESC	embryonic stem cell:	n/a	n/a
17	BACH1	chr21:15451014-15451054	K562	blood:	n/a	n/a
18	BACH1	chr21:15347039-15347218	K562	blood:	n/a	n/a
19	BATF	chr21:15293789-15294118	GM12878	blood:	n/a	chr21:15293876-15293886
20	BATF	chr21:15295169-15295585	GM12878	blood:	n/a	chr21:15295405-15295416
21	BATF	chr21:15457207-15457515	GM12878	blood:	n/a	chr21:15457321-15457332
22	BATF	chr21:15319369-15319639	GM12878	blood:	n/a	n/a
23	BATF	chr21:15468478-15468902	GM12878	blood:	n/a	n/a
24	BATF	chr21:15468538-15468846	GM12878	blood:	n/a	n/a
25	BATF	chr21:15448785-15449256	GM12878	blood:	n/a	n/a
26	BATF	chr21:15458863-15459259	GM12878	blood:	n/a	n/a
27	BATF	chr21:15392415-15392755	GM12878	blood:	n/a	chr21:15392633-15392644
28	BATF	chr21:15315150-15315618	GM12878	blood:	n/a	n/a
29	BATF	chr21:15458844-15459210	GM12878	blood:	n/a	n/a
30	BATF	chr21:15293789-15294119	GM12878	blood:	n/a	chr21:15293876-15293886
31	BATF	chr21:15340388-15340909	GM12878	blood:	n/a	n/a
32	BATF	chr21:15465685-15465956	GM12878	blood:	n/a	n/a
33	BATF	chr21:15315664-15315881	GM12878	blood:	n/a	n/a
34	BATF	chr21:15319344-15319735	GM12878	blood:	n/a	n/a
35	BATF	chr21:15392458-15392756	GM12878	blood:	n/a	chr21:15392633-15392644
36	BATF	chr21:15321950-15322323	GM12878	blood:	n/a	chr21:15322062-15322070
37	BATF	chr21:15315223-15315545	GM12878	blood:	n/a	n/a
38	BATF	chr21:15341379-15341645	GM12878	blood:	n/a	chr21:15341542-15341553
39	BATF	chr21:15134301-15134500	GM12878	blood:	n/a	n/a
40	BATF	chr21:15321908-15322326	GM12878	blood:	n/a	chr21:15322062-15322070
41	BATF	chr21:15302414-15302611	GM12878	blood:	n/a	chr21:15302548-15302559
42	BATF	chr21:15457224-15457512	GM12878	blood:	n/a	chr21:15457321-15457332
43	BATF	chr21:15112499-15112702	GM12878	blood:	n/a	n/a
44	BATF	chr21:15340450-15340827	GM12878	blood:	n/a	n/a
45	BATF	chr21:15295228-15295568	GM12878	blood:	n/a	chr21:15295405-15295416
46	BATF	chr21:15063813-15064156	GM12878	blood:	n/a	chr21:15064016-15064027
47	BCL11A	chr21:15315306-15315658	GM12878	blood:	n/a	chr21:15315610-15315619
48	BCL11A	chr21:15293842-15294225	GM12878	blood:	n/a	n/a
49	BCL11A	chr21:15223481-15223715	GM12878	blood:	n/a	n/a
50	BCL11A	chr21:15468433-15468873	GM12878	blood:	n/a	n/a

(count:7695 , 50 per page) page: 1 2 3 4 5 6 7 ... 154

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:15437169-15437219	AG09319	gingival:	n/a
2	chr21:15355304-15355354	HEK293	kidney:	embryo
3	chr21:15135145-15135195	HUVEC	blood vessel:	n/a
4	chr21:15434350-15434400	HCF	heart:	n/a
5	chr21:15436419-15436469	SK-N-SH_RA	brain:	n/a
6	chr21:15134738-15134788	HCM	heart:	n/a
7	chr21:15033939-15033989	SK-N-SH	brain:	n/a
8	chr21:15352790-15352840	HCF	heart:	n/a
9	chr21:15588349-15588399	BJ	skin:	n/a
10	chr21:15437169-15437219	AG09319	gingival:	n/a
11	chr21:15355304-15355354	HEK293	kidney:	embryo
12	chr21:15135145-15135195	HUVEC	blood vessel:	n/a
13	chr21:15434350-15434400	HCF	heart:	n/a
14	chr21:15436419-15436469	SK-N-SH_RA	brain:	n/a
15	chr21:15134738-15134788	HCM	heart:	n/a
16	chr21:15033939-15033989	SK-N-SH	brain:	n/a
17	chr21:15352790-15352840	HCF	heart:	n/a
18	chr21:15588349-15588399	BJ	skin:	n/a
19	chr21:15135145-15135195	PFSK-1	brain:	n/a
20	chr21:15451292-15451342	LNCaP	prostate:	n/a
21	chr21:15033939-15033989	PANC-1	pancreas:	n/a
22	chr21:15112617-15112667	SK-N-SH_RA	brain:	n/a
23	chr21:15112617-15112667	AG09319	gingival:	n/a
24	chr21:15051848-15051898	HEK293	kidney:	embryo
25	chr21:15456343-15456393	Caco-2	colon:	n/a
26	chr21:15588571-15588621	AoSMC	blood vessel:	n/a
27	chr21:15038453-15038503	ECC-1	luminal epithelium:	n/a
28	chr21:15452938-15452988	SK-N-SH_RA	brain:	n/a
29	chr21:15051848-15051898	NH-A	brain:	n/a
30	chr21:15038629-15038679	SK-N-SH	brain:	n/a
31	chr21:15451401-15451451	RPTEC	kidney:	n/a
32	chr21:15455710-15455760	PANC-1	pancreas:	n/a
33	chr21:15455710-15455760	HIPEpiC	eye:	n/a
34	chr21:15386159-15386209	BJ	skin:	n/a
35	chr21:15352983-15353033	HCM	heart:	n/a
36	chr21:15444237-15444287	AG09319	gingival:	n/a
37	chr21:15039424-15039474	GM12891	blood:	n/a
38	chr21:15455710-15455760	HCT-116	colon:	n/a
39	chr21:15309634-15309684	A549	lung:	n/a
40	chr21:15352213-15352263	Hela-S3	cervix:	n/a
41	chr21:15309724-15309774	AG04450	lung:	fetal
42	chr21:15380395-15380445	SK-N-MC	brain:	n/a
43	chr21:15309846-15309896	HCF	heart:	n/a
44	chr21:15038699-15038749	HNPCEpiC	eye:	n/a
45	chr21:15038629-15038679	GM12878	blood:	n/a
46	chr21:15588372-15588422	SKMC	muscle:	n/a
47	chr21:15588038-15588088	HepG2	liver:	n/a
48	chr21:15135336-15135386	HPAEpiC	pulmonary alveolar:	n/a
49	chr21:15588571-15588621	IMR90	lung:	fetal
50	chr21:15588848-15588898	HEEpiC	esophagus:	n/a

(count:32 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:15407784..15410293-chr21:15412366..15414053,2	MCF-7	breast:
2	chr21:15572112..15574456-chr21:15577631..15579440,2	K562	blood:
3	chr21:15612009..15614501-chr21:15615453..15618275,2	K562	blood:
4	chr21:15584053..15586326-chr21:15587304..15590158,2	K562	blood:
5	chr21:15407784..15410293-chr21:15412366..15414053,2	MCF-7	breast:
6	chr21:15493769..15495607-chr21:15500118..15502421,2	K562	blood:
7	chr21:15612009..15614501-chr21:15615453..15618275,2	K562	blood:
8	chr21:15616597..15618358-chr21:15624634..15626645,2	K562	blood:
9	chr21:15498829..15500815-chr21:15502377..15504055,2	K562	blood:
10	chr21:15616597..15618358-chr21:15624634..15626645,2	K562	blood:
11	chr21:15618985..15621962-chr21:15624169..15625950,3	K562	blood:
12	chr21:15525627..15528349-chr21:15528891..15531614,2	K562	blood:
13	chr21:15518340..15522108-chr21:15524344..15527724,3	K562	blood:
14	chr21:15510246..15512237-chr21:15537714..15540194,2	MCF-7	breast:
15	chr21:15590624..15592860-chr21:15594760..15596779,2	K562	blood:
16	chr21:15494107..15496665-chr21:15500921..15502468,2	K562	blood:
17	chr10:43144345..43147006-chr21:15489906..15492564,2	K562	blood:
18	chr21:15591982..15594612-chr21:15596999..15599183,2	K562	blood:
19	chr21:15576826..15579345-chr21:15583403..15585435,2	K562	blood:
20	chr21:15531265..15533440-chr21:15535110..15537488,2	MCF-7	breast:
21	chr21:15611898..15613509-chr21:15614140..15616953,2	K562	blood:
22	chr21:15510246..15512237-chr21:15537714..15540194,2	MCF-7	breast:
23	chr18:14629664..14632607-chr21:14899242..14900976,2	MCF-7	breast:
24	chr21:15591982..15594612-chr21:15596999..15599183,2	K562	blood:
25	chr21:15618985..15621962-chr21:15624169..15625950,3	K562	blood:
26	chr21:15494107..15496665-chr21:15500921..15502468,2	K562	blood:
27	chr21:15518340..15522108-chr21:15524344..15527724,3	K562	blood:
28	chr21:15525627..15528349-chr21:15528891..15531614,2	K562	blood:
29	chr21:15611898..15613509-chr21:15614140..15616953,2	K562	blood:
30	chr21:15498829..15500815-chr21:15502377..15504055,2	K562	blood:
31	chr21:15493769..15495607-chr21:15500118..15502421,2	K562	blood:
32	chr21:15531265..15533440-chr21:15535110..15537488,2	MCF-7	breast:

(count:74 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LIPI-4	chr21:15335061-15335192	NONHSAT081133
2	lnc-LIPI-7	chr21:15216343-15216385	NONHSAT147184
3	lnc-BAGE4-5	chr21:14789550-14789761	expReg_chr21_132_-
4	lnc-LIPI-7	chr21:15215454-15215753	NONHSAT081124
5	lnc-LIPI-4	chr21:15317360-15317464	NONHSAT081132
6	lnc-POTED-2	chr21:15142253-15142534	XLOC_013860
7	lnc-LIPI-4	chr21:15323553-15323581	NONHSAT081132
8	lnc-BAGE4-13	chr21:15056956-15057423	expReg_chr21_194_-
9	lnc-LIPI-4	chr21:15311695-15311749	NONHSAT081132
10	lnc-LIPI-7	chr21:15216343-15216456	NONHSAT081124
11	lnc-POTED-5	chr21:15035025-15035149	NONHSAT081114
12	lnc-LIPI-9	chr21:15116918-15118607	l_2168_chr21:15116917-15119815_placenta
13	lnc-BAGE4-2	chr21:14783236-14783504	expReg_chr21_122_-
14	lnc-LIPI-4	chr21:15342294-15342324	NONHSAT081131
15	lnc-BAGE4-10	chr21:15024549-15026514	NONHSAT081113
16	lnc-BAGE4-12	chr21:15045054-15045100	NONHSAT081117
17	lnc-POTED-1	chr21:14928714-14928832	NR_110544
18	lnc-LIPI-4	chr21:15323388-15323460	NONHSAT081131
19	lnc-BAGE4-3	chr21:14787066-14787369	expReg_chr21_126_-
20	lnc-LIPI-4	chr21:15316065-15316183	NONHSAT081133
21	lnc-LIPI-4	chr21:15323388-15323460	NONHSAT081132
22	lnc-POTED-8	chr21:15211439-15211730	NONHSAT081121
23	lnc-LIPI-4	chr21:15317360-15317430	NONHSAT081131
24	lnc-BAGE4-7	chr21:14807106-14807331	expReg_chr21_145_-
25	lnc-LIPI-4	chr21:15323553-15323581	NONHSAT081131
26	lnc-POTED-9	chr21:15240747-15241288	NONHSAT081122
27	lnc-POTED-6	chr21:15057030-15057282	NONHSAT081118
28	lnc-BAGE4-12	chr21:15041937-15042566	NONHSAT081117
29	lnc-POTED-5	chr21:15048216-15048672	NONHSAT081114
30	lnc-RBM11-2	chr21:15515902-15516479	NONHSAT081148
31	lnc-LIPI-7	chr21:15220411-15220685	NONHSAT081124
32	lnc-POTED-1	chr21:14930638-14930781	NR_110544
33	lnc-BAGE4-12	chr21:15041937-15042566	NONHSAT081116
34	lnc-LIPI-7	chr21:15217426-15217595	NONHSAT081125
35	lnc-BAGE4-4	chr21:14789321-14789544	expReg_chr21_131_-
36	lnc-RBM11-9	chr21:15361727-15362029	NONHSAT081139
37	lnc-POTED-9	chr21:15212726-15212964	NONHSAT081122
38	lnc-POTED-1	chr21:14919301-14919449	NR_110544
39	lnc-POTED-11	chr21:15268407-15268509	NONHSAT081129
40	lnc-POTED-6	chr21:15055902-15056343	NONHSAT081118
41	lnc-LIPI-3	chr21:15355017-15355220	expReg_chr21_329_-
42	lnc-POTED-1	chr21:14919301-14919449	ENSG00000228159
43	lnc-POTED-1	chr21:14928714-14928832	ENSG00000228159
44	lnc-LIPI-4	chr21:15339702-15339757	NONHSAT081133
45	lnc-LIPI-4	chr21:15335061-15335106	NONHSAT081132
46	lnc-LIPI-4	chr21:15313136-15313299	NONHSAT081131
47	lnc-LIPI-7	chr21:15218334-15218462	NONHSAT081124
48	lnc-LIPI-7	chr21:15218334-15218713	NONHSAT081125
49	lnc-BAGE4-6	chr21:14792037-14792496	expReg_chr21_135_-
50	lnc-POTED-2	chr21:15143886-15144061	XLOC_013860

miRNA name	Chromosome Location	mirBase accession
hsa-miR-8069	chr21:15096563-15096585	MIMAT0030996
hsa-miR-3118	chr21:15017105-15017127	MIMAT0014980_5
hsa-miR-3156-5p	chr21:14778752-14778773	MIMAT0015030_2

No data

Variant related genes	Relation type
OR4K11P	TF binding region
ENSG00000269011	TF binding region
RNU6-286P	TF binding region
MIR3156-3	TF binding region
ENSG00000224905	TF binding region
NF1P3	TF binding region
SNX18P13	TF binding region
FAM207CP	TF binding region
LIPI	TF binding region
ABCC13	TF binding region
ANKRD20A18P	TF binding region
MIR3118-5	TF binding region
GTF2IP2	TF binding region
RBM11	TF binding region
SNX19P1	TF binding region
PPP6R2P1	TF binding region
VN1R8P	TF binding region
FEM1AP1	TF binding region
TERF1P1	TF binding region
ANKRD30BP1	TF binding region
RNU6-954P	TF binding region
ZNF114P1	TF binding region
ENSG00000224922	TF binding region
ENSG00000228159	TF binding region
GXYLT1P2	TF binding region
ENSG00000266838	TF binding region
FGF7P2	TF binding region
CXADRP1	TF binding region
RNA5SP488	TF binding region
RHOT1P2	TF binding region
GRAMD4P1	TF binding region
ENSG00000256715	TF binding region
POTED	TF binding region
CNN2P7	TF binding region
CYP4F29P	TF binding region
ANKRD20A11P	TF binding region
OR4K12P	TF binding region
ERLEC1P1	TF binding region
OR4K11P	CpG island
ENSG00000269011	CpG island
RNU6-286P	CpG island
MIR3156-3	CpG island
ENSG00000224905	CpG island
NF1P3	CpG island
SNX18P13	CpG island
FAM207CP	CpG island
LIPI	CpG island
ABCC13	CpG island
ANKRD20A18P	CpG island
MIR3118-5	CpG island
GTF2IP2	CpG island
RBM11	CpG island
SNX19P1	CpG island
PPP6R2P1	CpG island
VN1R8P	CpG island
FEM1AP1	CpG island
TERF1P1	CpG island
ANKRD30BP1	CpG island
RNU6-954P	CpG island
ZNF114P1	CpG island
ENSG00000224922	CpG island
ENSG00000228159	CpG island
GXYLT1P2	CpG island
ENSG00000266838	CpG island
FGF7P2	CpG island
CXADRP1	CpG island
RNA5SP488	CpG island
RHOT1P2	CpG island
GRAMD4P1	CpG island
ENSG00000256715	CpG island
POTED	CpG island
CNN2P7	CpG island
CYP4F29P	CpG island
ANKRD20A11P	CpG island
OR4K12P	CpG island
ERLEC1P1	CpG island
ENSG00000185272	chromatin interactions
ENSG00000188992	chromatin interactions

Extended variants
information (count: 18229 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:18229 , 50 per page) page: 1 2 3 4 5 6 7 ... 365

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142411801	chr21:14718299-14718300	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs112377038	chr21:14718300-14718301	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs530677733	chr21:14718324-14718325	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs550904929	chr21:14718330-14718331	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs377620208	chr21:14718331-14718332	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs530742451	chr21:14718813-14718814	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs544392832	chr21:14718842-14718843	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs530266078	chr21:14718845-14718846	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs562942246	chr21:14733422-14733423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs2775745	chr21:14733445-14733446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs531900004	chr21:14733461-14733462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs115448827	chr21:14733465-14733466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs2775746	chr21:14733466-14733467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs2982809	chr21:14733489-14733490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs527975189	chr21:14733517-14733518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs142271840	chr21:14733525-14733526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs140450247	chr21:14733555-14733556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs536353083	chr21:14733573-14733574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs117555565	chr21:14733584-14733585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs141330395	chr21:14733607-14733608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs537619674	chr21:14733613-14733614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs2821819	chr21:14733614-14733615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs577548379	chr21:14733623-14733624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs533824978	chr21:14733648-14733649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs137924317	chr21:14733711-14733712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs573534384	chr21:14733741-14733742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs542366292	chr21:14733796-14733797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs189853197	chr21:14740604-14740605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs199919393	chr21:14740606-14740607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs544780352	chr21:14740613-14740614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs181118009	chr21:14740632-14740633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs186394955	chr21:14740645-14740646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs191242898	chr21:14740668-14740669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs183494972	chr21:14740669-14740670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs560730289	chr21:14740682-14740683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs28654403	chr21:14740688-14740689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs529985593	chr21:14740696-14740697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs2982800	chr21:14740710-14740711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs28715391	chr21:14740712-14740713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs2989188	chr21:14740738-14740739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs2775757	chr21:14740761-14740762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs186725560	chr21:14740772-14740773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs534261750	chr21:14740829-14740830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs79214693	chr21:14740841-14740842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs545736394	chr21:14740894-14740895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs28512411	chr21:14740895-14740896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs527961889	chr21:14740896-14740897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs541453940	chr21:14740900-14740901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs561120323	chr21:14740940-14740941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs530211508	chr21:14740958-14740959	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
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
Sudden cardiac death	19188705	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21509527	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
Myelofibrosis	22110671	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	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
Cancer	20164919	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	20409316	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute myeloid leukemia	21251322	CNVD
abnormal development	18461090	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	21785460	CNVD
Melanoma	17363583	CNVD
Multiple myeloma	17550852	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
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:1806 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:14733400-14733800	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr21:14740600-14741200	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr21:14742800-14743200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr21:14742800-14743800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
5	chr21:14743000-14743800	ZNF genes & repeats	Adipose Nuclei	Adipose
6	chr21:14743400-14743800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
7	chr21:14751400-14752800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr21:14752200-14752600	Active TSS	Primary T cells from cord blood	blood
9	chr21:14794200-14795400	Enhancers	Dnd41	blood
10	chr21:14866000-14867000	Enhancers	Dnd41	blood
11	chr21:14867000-14869000	Weak transcription	Dnd41	blood
12	chr21:14869000-14872400	Enhancers	Dnd41	blood
13	chr21:14888000-14888200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr21:14900000-14900400	ZNF genes & repeats	Dnd41	blood
15	chr21:14900400-14901400	Weak transcription	Dnd41	blood
16	chr21:14901400-14904800	Enhancers	Dnd41	blood
17	chr21:14916600-14920000	Enhancers	Dnd41	blood
18	chr21:14917000-14917600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr21:14920000-14922800	Weak transcription	Dnd41	blood
20	chr21:14922800-14923600	Enhancers	Dnd41	blood
21	chr21:14924200-14924400	Enhancers	Dnd41	blood
22	chr21:14965200-14966200	Enhancers	Dnd41	blood
23	chr21:14983000-14983200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
24	chr21:15035600-15036200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr21:15056200-15058400	Enhancers	Liver	Liver
26	chr21:15058400-15060200	Weak transcription	Liver	Liver
27	chr21:15060200-15062000	Enhancers	Liver	Liver
28	chr21:15066000-15068800	Weak transcription	Right Atrium	heart
29	chr21:15067000-15070200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
30	chr21:15067600-15069600	Enhancers	Liver	Liver
31	chr21:15067600-15069600	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
32	chr21:15067800-15070200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
33	chr21:15068200-15069600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr21:15068200-15069600	ZNF genes & repeats	Spleen	Spleen
35	chr21:15068400-15069400	Active TSS	Pancreas	Pancrea
36	chr21:15068600-15068800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
37	chr21:15068600-15068800	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
38	chr21:15068600-15069800	Enhancers	Placenta	Placenta
39	chr21:15068800-15069000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
40	chr21:15068800-15069000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr21:15068800-15069400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
42	chr21:15068800-15069400	Active TSS	Brain Anterior Caudate	brain
43	chr21:15068800-15069400	Active TSS	Colon Smooth Muscle	Colon
44	chr21:15068800-15069400	Active TSS	K562	blood
45	chr21:15068800-15069600	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
46	chr21:15068800-15069600	Active TSS	Brain Inferior Temporal Lobe	brain
47	chr21:15068800-15069600	Active TSS	Right Atrium	heart
48	chr21:15068800-15069800	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr21:15069000-15069600	Active TSS	Skeletal Muscle Male	skeletal muscle
50	chr21:15069000-15069600	Active TSS	A549	lung

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