Variant report

Variant	nsv1065086
Chromosome Location	chr21:41034806-41429078
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2411)
CpG islands
(count:733)
Chromatin interactive
region (count:247)
LncRNA
region (count:17)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:2411 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr21:41087730-41088079	K562	blood:	n/a	n/a
2	ARID3A	chr21:41087775-41088050	HepG2	liver:	n/a	n/a
3	ARID3A	chr21:41160290-41160508	K562	blood:	n/a	n/a
4	ARID3A	chr21:41062271-41062280	K562	blood:	n/a	n/a
5	ARID3A	chr21:41160360-41160603	HepG2	liver:	n/a	n/a
6	ATF1	chr21:41214483-41214992	K562	blood:	n/a	n/a
7	ATF1	chr21:41180803-41180907	K562	blood:	n/a	n/a
8	ATF3	chr21:41058014-41058181	K562	blood:	n/a	n/a
9	ATF3	chr21:41239113-41239444	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF3	chr21:41296968-41297114	K562	blood:	n/a	chr21:41297041-41297056 chr21:41297042-41297052 chr21:41297044-41297064 chr21:41297042-41297055 chr21:41297045-41297053 chr21:41297042-41297055 chr21:41297044-41297055 chr21:41297045-41297052 chr21:41297042-41297052
11	BACH1	chr21:41283416-41283542	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr21:41340015-41340320	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr21:41421356-41421364	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr21:41087881-41088094	H1-hESC	embryonic stem cell:	n/a	n/a
15	BACH1	chr21:41232491-41232813	H1-hESC	embryonic stem cell:	n/a	n/a
16	BATF	chr21:41346411-41347096	GM12878	blood:	n/a	n/a
17	BATF	chr21:41047925-41048637	GM12878	blood:	n/a	n/a
18	BATF	chr21:41048359-41048590	GM12878	blood:	n/a	n/a
19	BCL11A	chr21:41346368-41347107	GM12878	blood:	n/a	n/a
20	BCL11A	chr21:41346424-41347095	GM12878	blood:	n/a	n/a
21	BCL11A	chr21:41047963-41048209	GM12878	blood:	n/a	chr21:41048143-41048151
22	BHLHE40	chr21:41351413-41351507	K562	blood:	n/a	chr21:41351446-41351455 chr21:41351444-41351457 chr21:41351447-41351456 chr21:41351440-41351461 chr21:41351446-41351455 chr21:41351445-41351454
23	BHLHE40	chr21:41085895-41086147	K562	blood:	n/a	n/a
24	BHLHE40	chr21:41040411-41040622	K562	blood:	n/a	n/a
25	BHLHE40	chr21:41160253-41160679	K562	blood:	n/a	chr21:41160530-41160543 chr21:41160532-41160541 chr21:41160531-41160540 chr21:41160526-41160547
26	BHLHE40	chr21:41048410-41048661	GM12878	blood:	n/a	n/a
27	BHLHE40	chr21:41160279-41160720	HepG2	liver:	n/a	chr21:41160530-41160543 chr21:41160532-41160541 chr21:41160531-41160540 chr21:41160526-41160547
28	BHLHE40	chr21:41047929-41048179	GM12878	blood:	n/a	n/a
29	BRCA1	chr21:41323524-41323531	H1-hESC	embryonic stem cell:	n/a	n/a
30	BRCA1	chr21:41160429-41160440	HepG2	liver:	n/a	n/a
31	BRCA1	chr21:41239110-41239310	Hela-S3	cervix:	n/a	n/a
32	BRCA1	chr21:41195062-41195198	H1-hESC	embryonic stem cell:	n/a	n/a
33	BRCA1	chr21:41239171-41239604	H1-hESC	embryonic stem cell:	n/a	n/a
34	CCNT2	chr21:41160383-41160650	K562	blood:	n/a	n/a
35	CEBPB	chr21:41214716-41214916	A549	lung:	n/a	n/a
36	CEBPB	chr21:41223631-41224630	MCF-7	breast:	n/a	n/a
37	CEBPB	chr21:41402962-41403207	K562	blood:	n/a	chr21:41403088-41403097 chr21:41403088-41403097 chr21:41403088-41403097
38	CEBPB	chr21:41053203-41053601	A549	lung:	n/a	chr21:41053452-41053461 chr21:41053326-41053337 chr21:41053450-41053461
39	CEBPB	chr21:41053660-41054240	MCF-7	breast:	n/a	n/a
40	CEBPB	chr21:41035926-41035998	K562	blood:	n/a	chr21:41035959-41035970
41	CEBPB	chr21:41053217-41053597	IMR90	lung:	n/a	chr21:41053452-41053461 chr21:41053326-41053337 chr21:41053450-41053461
42	CEBPB	chr21:41152960-41153574	HepG2	liver:	n/a	chr21:41153353-41153364 chr21:41153062-41153073 chr21:41153335-41153346
43	CEBPB	chr21:41082240-41082537	A549	lung:	n/a	chr21:41082457-41082468
44	CEBPB	chr21:41167025-41167332	K562	blood:	n/a	chr21:41167166-41167177
45	CEBPB	chr21:41047851-41048006	A549	lung:	n/a	n/a
46	CEBPB	chr21:41214789-41214890	HepG2	liver:	n/a	n/a
47	CEBPB	chr21:41357019-41357178	IMR90	lung:	n/a	n/a
48	CEBPB	chr21:41402946-41403267	IMR90	lung:	n/a	chr21:41403088-41403097 chr21:41403088-41403097 chr21:41403088-41403097
49	CEBPB	chr21:41214689-41214932	K562	blood:	n/a	n/a
50	CEBPB	chr21:41239070-41239415	H1-hESC	embryonic stem cell:	n/a	chr21:41239294-41239302

(count:733 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:41239323-41239373	BJ	skin:	n/a
2	chr21:41239323-41239373	BJ	skin:	n/a
3	chr21:41384370-41384420	PANC-1	pancreas:	n/a
4	chr21:41238517-41238567	AG04450	lung:	fetal
5	chr21:41384370-41384420	Caco-2	colon:	n/a
6	chr21:41238517-41238567	SK-N-SH	brain:	n/a
7	chr21:41239488-41239538	SK-N-SH_RA	brain:	n/a
8	chr21:41239488-41239538	NB4	blood:	n/a
9	chr21:41239214-41239264	HEEpiC	esophagus:	n/a
10	chr21:41170358-41170408	SK-N-SH	brain:	n/a
11	chr21:41116522-41116572	SK-N-SH_RA	brain:	n/a
12	chr21:41239488-41239538	GM12891	blood:	n/a
13	chr21:41238517-41238567	AG09319	gingival:	n/a
14	chr21:41238940-41238990	BE2_C	brain:	n/a
15	chr21:41239323-41239373	ovcar-3	ovarian:	n/a
16	chr21:41238940-41238990	HL-60	blood:	n/a
17	chr21:41238940-41238990	NB4	blood:	n/a
18	chr21:41239323-41239373	Jurkat	blood:	n/a
19	chr21:41238517-41238567	ProgFib	skin:	n/a
20	chr21:41238517-41238567	HCT-116	colon:	n/a
21	chr21:41239323-41239373	SK-N-SH_RA	brain:	n/a
22	chr21:41173950-41174000	HRPEpiC	eye:	n/a
23	chr21:41170358-41170408	PrEC	prostate:	n/a
24	chr21:41173950-41174000	HMEC	breast:	n/a
25	chr21:41238940-41238990	Jurkat	blood:	n/a
26	chr21:41238940-41238990	LNCaP	prostate:	n/a
27	chr21:41238517-41238567	GM06990	blood:	n/a
28	chr21:41170358-41170408	BE2_C	brain:	n/a
29	chr21:41238517-41238567	Caco-2	colon:	n/a
30	chr21:41238517-41238567	NT2-D1	testis:	n/a
31	chr21:41238940-41238990	HCM	heart:	n/a
32	chr21:41117225-41117275	AG04450	lung:	fetal
33	chr21:41129855-41129905	ovcar-3	ovarian:	n/a
34	chr21:41239214-41239264	GM12878	blood:	n/a
35	chr21:41117225-41117275	HRE	kidney:	n/a
36	chr21:41384370-41384420	HCF	heart:	n/a
37	chr21:41116522-41116572	HUVEC	blood vessel:	n/a
38	chr21:41117225-41117275	AG10803	skin:	n/a
39	chr21:41129855-41129905	HCT-116	colon:	n/a
40	chr21:41170358-41170408	SAEC	small airway:	n/a
41	chr21:41238940-41238990	ProgFib	skin:	n/a
42	chr21:41117225-41117275	Hela-S3	cervix:	n/a
43	chr21:41238517-41238567	GM19239	blood:	n/a
44	chr21:41117225-41117275	A549	lung:	n/a
45	chr21:41384370-41384420	HMEC	breast:	n/a
46	chr21:41239488-41239538	MCF10A-Er-Src	breast:	n/a
47	chr21:41239214-41239264	BJ	skin:	n/a
48	chr21:41239323-41239373	PFSK-1	brain:	n/a
49	chr21:41129855-41129905	NHDF-neo	bronchial:	n/a
50	chr21:41238517-41238567	HCM	heart:	n/a

(count:247 , 50 per page) page: 1 2 3 4 5

No.	Distal block	Cell Line	Cell type
1	chr21:41161226..41165062-chr21:41165469..41170017,6	MCF-7	breast:
2	chr21:41173962..41176069-chr21:41178013..41180055,3	MCF-7	breast:
3	chr21:41160023..41160863-chr21:41279931..41280819,2	MCF-7	breast:
4	chr21:40889963..40891050-chr21:41077484..41078432,7	MCF-7	breast:
5	chr21:41096819..41099937-chr21:41099950..41103294,3	K562	blood:
6	chr21:41159989..41160876-chr21:41491630..41493536,21	MCF-7	breast:
7	chr21:41159946..41160938-chr21:41279878..41281257,7	MCF-7	breast:
8	chr21:41282521..41284886-chr21:41368503..41370324,2	MCF-7	breast:
9	chr21:41039217..41040821-chr21:41049165..41051161,2	MCF-7	breast:
10	chr21:41160210..41160951-chr21:41226545..41227182,3	MCF-7	breast:
11	chr21:41195761..41197762-chr21:41207880..41210473,2	MCF-7	breast:
12	chr21:41253703..41255362-chr21:41264614..41266527,2	K562	blood:
13	chr21:41159272..41160801-chr21:41162335..41164635,2	MCF-7	breast:
14	chr21:41349713..41352422-chr21:41353594..41355601,2	MCF-7	breast:
15	chr21:41415165..41415979-chr21:41492540..41493376,2	MCF-7	breast:
16	chr21:40951212..40954090-chr21:41083007..41085637,2	MCF-7	breast:
17	chr21:41421284..41422893-chr21:41494637..41496251,2	MCF-7	breast:
18	chr21:41275959..41278381-chr21:41285054..41287165,2	K562	blood:
19	chr21:41160210..41160951-chr21:41226545..41227182,3	MCF-7	breast:
20	chr21:41144717..41146805-chr21:41147192..41149848,2	MCF-7	breast:
21	chr21:41217185..41219061-chr21:41222120..41225163,3	MCF-7	breast:
22	chr21:41038815..41039362-chr21:41084996..41085681,2	MCF-7	breast:
23	chr21:41014291..41017132-chr21:41084919..41087866,2	MCF-7	breast:
24	chr21:41032394..41034370-chr21:41034767..41037566,3	MCF-7	breast:
25	chr21:40684580..40686274-chr21:41051682..41054583,2	MCF-7	breast:
26	chr21:40903746..40904291-chr21:41077595..41078460,2	MCF-7	breast:
27	chr21:41039746..41042465-chr21:41050043..41052703,2	K562	blood:
28	chr21:41078662..41082504-chr21:41085801..41089448,3	MCF-7	breast:
29	chr21:41178535..41181156-chr21:41183661..41185952,2	MCF-7	breast:
30	chr21:40895962..40896593-chr21:41095361..41096036,2	MCF-7	breast:
31	chr21:41160070..41160863-chr21:41223917..41224517,2	MCF-7	breast:
32	chr21:41035008..41037000-chr21:41038244..41040856,2	K562	blood:
33	chr21:41383706..41385692-chr21:41388800..41391393,3	MCF-7	breast:
34	chr21:40890554..40891390-chr21:41077384..41078170,2	MCF-7	breast:
35	chr21:41162459..41164745-chr21:41169799..41171557,2	K562	blood:
36	chr21:41224780..41227558-chr21:41231799..41233536,2	MCF-7	breast:
37	chr21:41414849..41415999-chr21:41492535..41493201,5	MCF-7	breast:
38	chr21:41231503..41233658-chr21:41243578..41245931,2	MCF-7	breast:
39	chr21:41039746..41042465-chr21:41050043..41052703,2	K562	blood:
40	chr21:41145481..41148000-chr21:41151829..41153726,2	MCF-7	breast:
41	chr21:41219658..41221739-chr21:41222573..41224525,2	MCF-7	breast:
42	chr21:41235043..41237223-chr21:41241443..41243363,2	MCF-7	breast:
43	chr21:41214087..41216615-chr21:41216741..41221047,4	MCF-7	breast:
44	chr21:41142349..41144750-chr21:41149538..41151762,2	MCF-7	breast:
45	chr21:41160053..41161081-chr21:41282734..41283845,12	MCF-7	breast:
46	chr21:41282521..41284886-chr21:41368503..41370324,2	MCF-7	breast:
47	chr21:41217185..41219061-chr21:41222120..41225163,3	MCF-7	breast:
48	chr21:41128004..41130584-chr21:41132045..41133967,2	K562	blood:
49	chr21:41035008..41037000-chr21:41038244..41040856,2	K562	blood:
50	chr21:41118789..41121502-chr21:41136765..41138744,2	MCF-7	breast:

(count:17 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-B3GALT5-1	chr21:41098691-41098875	NONHSAT082208
2	lnc-DSCAM-2	chr21:41357587-41357606	NONHSAT082214
3	lnc-IGSF5-1	chr21:41099682-41099919	XLOC_013946
4	lnc-IGSF5-1	chr21:41101060-41101186	XLOC_013946
5	lnc-B3GALT5-1	chr21:41097765-41098012	NONHSAT082208
6	lnc-DSCAM-2	chr21:41357485-41357532	NONHSAT082214
7	lnc-DSCAM-2	chr21:41357915-41358056	NONHSAT082214
8	lnc-IGSF5-1	chr21:41101060-41101611	ENSG00000231713
9	lnc-B3GALT5-1	chr21:41097822-41098012	XLOC_013945
10	lnc-B3GALT5-1	chr21:41094403-41094478	ENSG00000225330.1
11	lnc-IGSF5-1	chr21:41099773-41099919	XLOC_013946
12	lnc-IGSF5-1	chr21:41101059-41101611	XLOC_013946
13	lnc-IGSF5-1	chr21:41101431-41102607	XLOC_013946
14	lnc-B3GALT5-1	chr21:41097765-41098012	ENSG00000225330.1
15	lnc-IGSF5-1	chr21:41099773-41099919	ENSG00000231713
16	lnc-B3GALT5-1	chr21:41098692-41098875	XLOC_013945
17	lnc-B3GALT5-1	chr21:41086098-41086146	NONHSAT082208

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	DSCAM	hsa-miR-196b-5p	chr21:41384899-41384921

Variant related genes	Relation type
ENSG00000231713	TF binding region
IGSF5	TF binding region
PCP4	TF binding region
ENSG00000231713	CpG island
IGSF5	CpG island
PCP4	CpG island
ENSG00000183036	chromatin interactions
ENSG00000185658	chromatin interactions
ENSG00000163636	chromatin interactions
ENSG00000236352	chromatin interactions
ENSG00000180879	chromatin interactions
ENSG00000231713	chromatin interactions
ENSG00000184809	chromatin interactions
ENSG00000009844	chromatin interactions
ENSG00000183067	chromatin interactions

Extended variants
information (count: 16449 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:16449 , 50 per page) page: 1 2 3 4 5 6 7 ... 329

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546488075	chr21:41034827-41034828	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs558893231	chr21:41034833-41034834	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs118029441	chr21:41034841-41034842	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs528053908	chr21:41034879-41034880	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs114987306	chr21:41034880-41034881	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs141243984	chr21:41034892-41034893	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs75862044	chr21:41035057-41035058	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs78691061	chr21:41035064-41035065	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs78509466	chr21:41035079-41035080	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs79452723	chr21:41035082-41035083	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs553326542	chr21:41035083-41035084	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs545732661	chr21:41035157-41035158	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs528066883	chr21:41035188-41035189	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs563812080	chr21:41035193-41035194	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs535002177	chr21:41035212-41035213	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs182388035	chr21:41035217-41035218	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs574938786	chr21:41035223-41035224	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs372352885	chr21:41035273-41035274	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs557239213	chr21:41035307-41035308	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs531154818	chr21:41035357-41035358	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs35994086	chr21:41035362-41035363	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs566611873	chr21:41035366-41035367	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs538713200	chr21:41035371-41035372	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs75412400	chr21:41035381-41035382	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs558552611	chr21:41035383-41035384	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs577387218	chr21:41035384-41035385	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs575504535	chr21:41035393-41035394	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs76577120	chr21:41035399-41035400	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs546105884	chr21:41035450-41035451	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs559600774	chr21:41035489-41035490	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs528798970	chr21:41035490-41035491	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs541423040	chr21:41035505-41035506	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs561351591	chr21:41035535-41035536	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs530484575	chr21:41035542-41035543	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs150766514	chr21:41035544-41035545	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs567823093	chr21:41035565-41035566	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs138051575	chr21:41035613-41035614	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs528203919	chr21:41035631-41035632	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs546852234	chr21:41035632-41035633	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs566768747	chr21:41035670-41035671	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs77711909	chr21:41035685-41035686	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs370629995	chr21:41035686-41035687	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs60839114	chr21:41035734-41035735	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs571266814	chr21:41035778-41035779	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs568457647	chr21:41035787-41035788	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs537121773	chr21:41035846-41035847	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs548216832	chr21:41035847-41035848	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs557405283	chr21:41035872-41035873	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs577300550	chr21:41035873-41035874	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs545976066	chr21:41035900-41035901	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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 myeloid leukemia	20729466	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
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21858162	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17899364	CNVD
Down syndrome	20877625	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Prostate cancer	21147910	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Cancer	20164919	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Glioblastoma multiforme	18628472	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
Lymphoma	21487021	CNVD

Chromatin state (count:1541 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:41013000-41039000	Weak transcription	Gastric	stomach
2	chr21:41013000-41041800	Weak transcription	Small Intestine	intestine
3	chr21:41014000-41035600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr21:41022000-41035200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr21:41026400-41047800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr21:41030200-41040400	Strong transcription	H1 Cell Line	embryonic stem cell
7	chr21:41030200-41046400	Weak transcription	Colonic Mucosa	Colon
8	chr21:41031200-41035600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr21:41031400-41039000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
10	chr21:41031600-41038200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr21:41031800-41038000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr21:41032000-41035800	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr21:41032000-41037800	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr21:41032000-41038600	Strong transcription	H9 Cell Line	embryonic stem cell
15	chr21:41032400-41038200	Strong transcription	Duodenum Mucosa	Duodenum
16	chr21:41032600-41045200	Weak transcription	Brain Anterior Caudate	brain
17	chr21:41032800-41035000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr21:41032800-41037000	Weak transcription	Pancreas	Pancrea
19	chr21:41032800-41047400	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr21:41033000-41035800	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr21:41033000-41037600	Strong transcription	Fetal Intestine Small	intestine
22	chr21:41033000-41037800	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr21:41033000-41038800	Weak transcription	Fetal Lung	lung
24	chr21:41033000-41039000	Weak transcription	Brain Substantia Nigra	brain
25	chr21:41033000-41042000	Weak transcription	Right Atrium	heart
26	chr21:41033200-41035200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr21:41033200-41035800	Weak transcription	Lung	lung
28	chr21:41033200-41037800	Strong transcription	Fetal Intestine Large	intestine
29	chr21:41033200-41038200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr21:41033200-41038600	Weak transcription	HSMMtube	muscle
31	chr21:41033200-41041800	Weak transcription	Rectal Smooth Muscle	rectum
32	chr21:41033400-41038000	Weak transcription	Stomach Mucosa	stomach
33	chr21:41033800-41037600	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr21:41033800-41037600	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr21:41034000-41035000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr21:41034200-41036600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr21:41034400-41036000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr21:41034400-41036000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr21:41034400-41038000	Weak transcription	Fetal Muscle Leg	muscle
40	chr21:41034400-41041600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr21:41034600-41035600	Weak transcription	Fetal Stomach	stomach
42	chr21:41034800-41035000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr21:41034800-41035400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr21:41035000-41035800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr21:41035000-41036000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr21:41035000-41036000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr21:41035000-41036000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr21:41035200-41037800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr21:41035200-41038000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
50	chr21:41035400-41035600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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