Variant report

Variant	nsv828910
Chromosome Location	chr21:45877628-45878707
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:59)
CpG islands
(count:61)
Chromatin interactive
region (count:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:59 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr21:45877744-45878075	HepG2	liver:	n/a	n/a
2	BHLHE40	chr21:45877540-45878051	HepG2	liver:	n/a	n/a
3	CHD2	chr21:45877689-45877906	HepG2	liver:	n/a	n/a
4	CTCF	chr21:45877645-45877709	HepG2	liver:	n/a	n/a
5	CTCF	chr21:45877585-45877793	HepG2	liver:	n/a	n/a
6	CTCF	chr21:45877640-45877790	HepG2	liver:	n/a	n/a
7	CTCF	chr21:45877600-45877750	HepG2	liver:	n/a	n/a
8	CTCF	chr21:45877580-45877730	GM12873	blood:	n/a	n/a
9	EP300	chr21:45877622-45878019	HepG2	liver:	n/a	n/a
10	EP300	chr21:45877518-45878186	HepG2	liver:	n/a	n/a
11	EP300	chr21:45877458-45878268	HepG2	liver:	n/a	n/a
12	FOXA1	chr21:45877505-45878176	HepG2	liver:	n/a	chr21:45877751-45877766 chr21:45877776-45877791
13	FOXA1	chr21:45877605-45877938	T-47D	breast:	n/a	chr21:45877751-45877766 chr21:45877776-45877791
14	FOXA1	chr21:45877452-45878091	HepG2	liver:	n/a	chr21:45877751-45877766 chr21:45877776-45877791
15	FOXA1	chr21:45877598-45877856	T-47D	breast:	n/a	chr21:45877751-45877766 chr21:45877776-45877791
16	FOXA1	chr21:45877362-45878186	HepG2	liver:	n/a	chr21:45877751-45877766 chr21:45877776-45877791
17	FOXA1	chr21:45877497-45878186	HepG2	liver:	n/a	chr21:45877751-45877766 chr21:45877776-45877791
18	FOXA2	chr21:45877235-45878193	HepG2	liver:	n/a	n/a
19	FOXA2	chr21:45877569-45877859	A549	lung:	n/a	n/a
20	FOXA2	chr21:45877540-45878121	HepG2	liver:	n/a	n/a
21	HDAC2	chr21:45877497-45878141	HepG2	liver:	n/a	n/a
22	HEY1	chr21:45877519-45877966	HepG2	liver:	n/a	n/a
23	HEY1	chr21:45877512-45878253	HepG2	liver:	n/a	n/a
24	HNF4A	chr21:45877542-45878240	HepG2	liver:	n/a	n/a
25	HNF4A	chr21:45877494-45878248	HepG2	liver:	n/a	n/a
26	HNF4A	chr21:45877543-45878230	HepG2	liver:	n/a	n/a
27	HNF4G	chr21:45877480-45878143	HepG2	liver:	n/a	n/a
28	HNF4G	chr21:45877531-45878206	HepG2	liver:	n/a	n/a
29	JUND	chr21:45877669-45878082	HepG2	liver:	n/a	n/a
30	MAFF	chr21:45877649-45878108	HepG2	liver:	n/a	n/a
31	MAFK	chr21:45877655-45877921	HepG2	liver:	n/a	n/a
32	MAX	chr21:45877155-45878231	HepG2	liver:	n/a	n/a
33	MAX	chr21:45877605-45877911	HepG2	liver:	n/a	n/a
34	MAX	chr21:45877199-45878222	HepG2	liver:	n/a	n/a
35	MAZ	chr21:45877592-45878091	HepG2	liver:	n/a	n/a
36	MBD4	chr21:45877513-45878043	HepG2	liver:	n/a	n/a
37	MXI1	chr21:45877483-45878046	HepG2	liver:	n/a	n/a
38	MYBL2	chr21:45877399-45878062	HepG2	liver:	n/a	n/a
39	MYBL2	chr21:45877414-45878199	HepG2	liver:	n/a	n/a
40	MYC	chr21:45877610-45877781	HepG2	liver:	n/a	n/a
41	NFIC	chr21:45877476-45878064	HepG2	liver:	n/a	n/a
42	NFIC	chr21:45877558-45878040	HepG2	liver:	n/a	n/a
43	POLR2A	chr21:45878063-45878431	HepG2	liver:	n/a	n/a
44	POLR2A	chr21:45877552-45878158	HepG2	liver:	n/a	n/a
45	POLR2A	chr21:45877515-45878188	HepG2	liver:	n/a	n/a
46	POLR2A	chr21:45877534-45877870	HepG2	liver:	n/a	n/a
47	POLR2A	chr21:45877217-45877915	HepG2	liver:	n/a	n/a
48	POLR2A	chr21:45877522-45878007	HepG2	liver:	n/a	n/a
49	POLR2A	chr21:45877588-45877908	HepG2	liver:	n/a	n/a
50	RAD21	chr21:45877560-45877924	HepG2	liver:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:45877719-45877769	SAEC	small airway:	n/a
2	chr21:45877719-45877769	PFSK-1	brain:	n/a
3	chr21:45877719-45877769	A549	lung:	n/a
4	chr21:45877719-45877769	HMEC	breast:	n/a
5	chr21:45877719-45877769	NHDF-neo	bronchial:	n/a
6	chr21:45877719-45877769	GM06990	blood:	n/a
7	chr21:45877719-45877769	SK-N-SH_RA	brain:	n/a
8	chr21:45877719-45877769	HUVEC	blood vessel:	n/a
9	chr21:45877719-45877769	NT2-D1	testis:	n/a
10	chr21:45877719-45877769	HNPCEpiC	eye:	n/a
11	chr21:45877719-45877769	HAEpiC	amniotic membrane:	n/a
12	chr21:45877719-45877769	HL-60	blood:	n/a
13	chr21:45877719-45877769	HPAEpiC	pulmonary alveolar:	n/a
14	chr21:45877719-45877769	HCF	heart:	n/a
15	chr21:45877719-45877769	ProgFib	skin:	n/a
16	chr21:45877719-45877769	ECC-1	luminal epithelium:	n/a
17	chr21:45877719-45877769	NHBE	bronchial:	n/a
18	chr21:45877719-45877769	AoSMC	blood vessel:	n/a
19	chr21:45877719-45877769	AG04449	skin:	fetal
20	chr21:45877719-45877769	SK-N-MC	brain:	n/a
21	chr21:45877719-45877769	MCF-7	breast:	n/a
22	chr21:45877719-45877769	GM12891	blood:	n/a
23	chr21:45877719-45877769	H1-hESC	embryonic stem cell:	embryo
24	chr21:45877719-45877769	MCF10A-Er-Src	breast:	n/a
25	chr21:45877719-45877769	Hepatocyte	liver:	n/a
26	chr21:45877719-45877769	HRCEpiC	kidney:	n/a
27	chr21:45877719-45877769	BJ	skin:	n/a
28	chr21:45877719-45877769	SKMC	muscle:	n/a
29	chr21:45877719-45877769	NH-A	brain:	n/a
30	chr21:45877719-45877769	HRPEpiC	eye:	n/a
31	chr21:45877719-45877769	LNCaP	prostate:	n/a
32	chr21:45877719-45877769	NB4	blood:	n/a
33	chr21:45877719-45877769	HCM	heart:	n/a
34	chr21:45877719-45877769	PANC-1	pancreas:	n/a
35	chr21:45877719-45877769	Hela-S3	cervix:	n/a
36	chr21:45877719-45877769	SK-N-SH	brain:	n/a
37	chr21:45877719-45877769	HEK293	kidney:	embryo
38	chr21:45877719-45877769	BE2_C	brain:	n/a
39	chr21:45877719-45877769	K562	blood:	n/a
40	chr21:45877719-45877769	HCPEpiC	choroid plexus:	n/a
41	chr21:45877719-45877769	Caco-2	colon:	n/a
42	chr21:45877719-45877769	IMR90	lung:	fetal
43	chr21:45877719-45877769	GM19239	blood:	n/a
44	chr21:45877719-45877769	HIPEpiC	eye:	n/a
45	chr21:45877719-45877769	AG04450	lung:	fetal
46	chr21:45877719-45877769	PrEC	prostate:	n/a
47	chr21:45877719-45877769	U87	brain:	n/a
48	chr21:45877719-45877769	T-47D	breast:	n/a
49	chr21:45877719-45877769	HepG2	liver:	n/a
50	chr21:45877719-45877769	AG09319	gingival:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45874301..45877175-chr21:45878479..45881429,3	MCF-7	breast:
2	chr21:45875495..45879436-chr21:45881615..45885234,3	K562	blood:
3	chr21:45756335..45760049-chr21:45874026..45878349,7	MCF-7	breast:
4	chr21:45874295..45876518-chr21:45877356..45879710,2	K562	blood:
5	chr21:45875711..45878548-chr21:45899746..45901735,2	MCF-7	breast:
6	chr21:45876830..45878456-chr21:45878976..45880619,2	K562	blood:
7	chr21:45876142..45878920-chr21:45886862..45888726,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRRC3-2	chr21:45877517-45878815	ucscGeneNc_uc010gqa_1

No data

Variant related genes	Relation type
LRRC3DN	TF binding region
LRRC3-AS1	TF binding region
LRRC3DN	CpG island
LRRC3-AS1	CpG island
ENSG00000269430	chromatin interactions
ENSG00000232969	chromatin interactions
ENSG00000160233	chromatin interactions
ENSG00000160226	chromatin interactions
ENSG00000229356	chromatin interactions

Extended variants
information (count: 50 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:50 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147063689	chr21:45877657-45877658	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
2	rs538891424	chr21:45877658-45877659	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
3	rs550602788	chr21:45877683-45877684	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
4	rs564182143	chr21:45877700-45877701	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
5	rs568833892	chr21:45877710-45877711	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
6	rs536372793	chr21:45877718-45877719	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
7	rs554625916	chr21:45877724-45877725	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
8	rs138446409	chr21:45877732-45877733	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
9	rs534393890	chr21:45877738-45877739	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
10	rs559032972	chr21:45877851-45877852	Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
11	rs370485610	chr21:45877897-45877898	Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
12	rs149625576	chr21:45877922-45877923	Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
13	rs373874535	chr21:45877963-45877964	Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
14	rs544469439	chr21:45877996-45877997	Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
15	rs11702242	chr21:45878009-45878010	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs574472206	chr21:45878019-45878020	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
17	rs541993604	chr21:45878028-45878029	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
18	rs113696757	chr21:45878032-45878033	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
19	rs528323849	chr21:45878044-45878045	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
20	rs183244635	chr21:45878053-45878054	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
21	rs368949429	chr21:45878055-45878056	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
22	rs532461454	chr21:45878056-45878057	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
23	rs567634484	chr21:45878077-45878078	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
24	rs141803969	chr21:45878113-45878114	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
25	rs529101500	chr21:45878204-45878205	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
26	rs188758202	chr21:45878243-45878244	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
27	rs9982752	chr21:45878247-45878248	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs565843462	chr21:45878262-45878263	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
29	rs190906065	chr21:45878278-45878279	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
30	rs556185177	chr21:45878290-45878291	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
31	rs183489914	chr21:45878294-45878295	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
32	rs145929717	chr21:45878326-45878327	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
33	rs570683372	chr21:45878337-45878338	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
34	rs375181851	chr21:45878338-45878339	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
35	rs369266924	chr21:45878342-45878343	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
36	rs536218952	chr21:45878377-45878378	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
37	rs2838563	chr21:45878384-45878385	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs553836692	chr21:45878395-45878396	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
39	rs572514154	chr21:45878400-45878401	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
40	rs186770419	chr21:45878410-45878411	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
41	rs139823738	chr21:45878433-45878434	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
42	rs532321680	chr21:45878449-45878450	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
43	rs36091093	chr21:45878466-45878467	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
44	rs4818719	chr21:45878480-45878481	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs191579082	chr21:45878573-45878574	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
46	rs3804034	chr21:45878637-45878638	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs548171577	chr21:45878641-45878642	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
48	rs77796400	chr21:45878645-45878646	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
49	rs368572935	chr21:45878647-45878648	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
50	rs78485053	chr21:45878652-45878653	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
Hodgkin''s lymphoma	18641027	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
Ewing''s sarcoma	18628472	CNVD
Leukemia	18628472	CNVD
small cell lung cancer	17426248	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45876000-45878200	Flanking Active TSS	Liver	Liver
2	chr21:45876000-45879000	Flanking Active TSS	HepG2	liver
3	chr21:45876200-45879200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr21:45876200-45881000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr21:45876200-45881200	Weak transcription	Left Ventricle	heart
6	chr21:45876200-45883000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr21:45876400-45877800	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr21:45876400-45878600	Weak transcription	Primary B cells from cord blood	blood
9	chr21:45876400-45879400	Weak transcription	Thymus	Thymus
10	chr21:45876400-45881200	Weak transcription	Right Atrium	heart
11	chr21:45876400-45883400	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr21:45876400-45883800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr21:45876600-45878600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr21:45876600-45878800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr21:45876600-45878800	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr21:45876600-45879200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr21:45876600-45879400	Genic enhancers	Fetal Intestine Large	intestine
18	chr21:45876600-45879600	Genic enhancers	Fetal Intestine Small	intestine
19	chr21:45876600-45879800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr21:45876600-45881200	Weak transcription	Fetal Heart	heart
21	chr21:45876600-45883200	Weak transcription	Rectal Smooth Muscle	rectum
22	chr21:45876600-45883800	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr21:45876800-45877800	Genic enhancers	Fetal Brain Female	brain
24	chr21:45876800-45877800	Strong transcription	Ovary	ovary
25	chr21:45876800-45878000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr21:45876800-45880800	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr21:45876800-45881400	Weak transcription	Fetal Lung	lung
28	chr21:45877000-45877800	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr21:45877000-45877800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr21:45877000-45878000	Strong transcription	Adipose Nuclei	Adipose
31	chr21:45877000-45878600	Strong transcription	Brain Germinal Matrix	brain
32	chr21:45877000-45878800	Weak transcription	Right Ventricle	heart
33	chr21:45877000-45879600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr21:45877200-45878800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr21:45877200-45879400	Genic enhancers	Stomach Smooth Muscle	stomach
36	chr21:45877200-45879600	Weak transcription	Lung	lung
37	chr21:45877200-45880600	Strong transcription	Fetal Stomach	stomach
38	chr21:45877200-45882000	Weak transcription	Spleen	Spleen
39	chr21:45877400-45877800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr21:45877400-45877800	Genic enhancers	Fetal Brain Male	brain
41	chr21:45877400-45877800	Genic enhancers	Gastric	stomach
42	chr21:45877400-45878200	Enhancers	Stomach Mucosa	stomach
43	chr21:45877400-45879800	Genic enhancers	Colon Smooth Muscle	Colon
44	chr21:45877400-45881800	Enhancers	Placenta	Placenta
45	chr21:45877600-45877800	Flanking Active TSS	Duodenum Mucosa	Duodenum
46	chr21:45877600-45879800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr21:45877600-45881000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr21:45877800-45878000	Active TSS	ES-I3 Cell Line	embryonic stem cell
49	chr21:45877800-45878000	Enhancers	Duodenum Mucosa	Duodenum
50	chr21:45877800-45878200	Enhancers	Gastric	stomach

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