Variant report

Variant	nsv1063344
Chromosome Location	chr21:48044583-48096945
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1089)
CpG islands
(count:2205)
Chromatin interactive
region (count:116)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1089 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr21:48054800-48055606	GM12878	blood:	n/a	n/a
2	ATF3	chr21:48055269-48055855	K562	blood:	n/a	n/a
3	ATF3	chr21:48081183-48081378	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF3	chr21:48054937-48055231	K562	blood:	n/a	n/a
5	ATF3	chr21:48055257-48055907	A549	lung:	n/a	chr21:48055268-48055277
6	ATF3	chr21:48055269-48055747	A549	lung:	n/a	n/a
7	ATF3	chr21:48055226-48055739	K562	blood:	n/a	chr21:48055237-48055245 chr21:48055268-48055277
8	BATF	chr21:48058236-48058618	GM12878	blood:	n/a	n/a
9	BATF	chr21:48058299-48058586	GM12878	blood:	n/a	n/a
10	BCL11A	chr21:48058312-48058550	GM12878	blood:	n/a	n/a
11	BCL11A	chr21:48058286-48058514	GM12878	blood:	n/a	n/a
12	BCL3	chr21:48084505-48084827	GM12878	blood:	n/a	n/a
13	BCL3	chr21:48084540-48084760	GM12878	blood:	n/a	n/a
14	BCLAF1	chr21:48081154-48081530	GM12878	blood:	n/a	n/a
15	BCLAF1	chr21:48054738-48055175	GM12878	blood:	n/a	n/a
16	CBX3	chr21:48054356-48056106	K562	blood:	n/a	n/a
17	CBX3	chr21:48075124-48075496	K562	blood:	n/a	n/a
18	CEBPB	chr21:48058257-48058541	K562	blood:	n/a	n/a
19	CEBPB	chr21:48047791-48047968	K562	blood:	n/a	n/a
20	CEBPB	chr21:48047658-48048067	K562	blood:	n/a	n/a
21	CEBPB	chr21:48064981-48065204	K562	blood:	n/a	n/a
22	CEBPD	chr21:48087649-48087923	HepG2	liver:	n/a	n/a
23	CEBPD	chr21:48055110-48055815	HepG2	liver:	n/a	n/a
24	CEBPD	chr21:48054859-48055913	K562	blood:	n/a	n/a
25	CREB1	chr21:48054978-48055140	A549	lung:	n/a	n/a
26	CREB1	chr21:48054940-48056118	A549	lung:	n/a	n/a
27	CREB1	chr21:48054806-48056067	H1-hESC	embryonic stem cell:	n/a	n/a
28	CREB1	chr21:48054844-48055240	ECC-1	luminal epithelium:	n/a	n/a
29	CREB1	chr21:48054800-48055327	ECC-1	luminal epithelium:	n/a	n/a
30	CREB1	chr21:48054804-48055837	H1-hESC	embryonic stem cell:	n/a	n/a
31	CREB1	chr21:48054848-48056254	K562	blood:	n/a	n/a
32	CREB1	chr21:48054788-48056180	GM12878	blood:	n/a	n/a
33	CREB1	chr21:48054821-48056265	HepG2	liver:	n/a	n/a
34	CREB1	chr21:48081058-48081481	H1-hESC	embryonic stem cell:	n/a	n/a
35	CTCF	chr21:48059800-48059950	AG04449	skin:	n/a	n/a
36	CTCF	chr21:48055000-48055150	HRE	kidney:	n/a	chr21:48055091-48055107
37	CTCF	chr21:48054995-48055189	Pancreas_OC	pancreas:	n/a	chr21:48055091-48055107
38	CTCF	chr21:48055030-48055109	GM20000	blood:	n/a	chr21:48055091-48055107
39	CTCF	chr21:48059760-48059910	HL-60	blood:	n/a	n/a
40	CTCF	chr21:48081200-48081350	MCF-7	breast:	n/a	n/a
41	CTCF	chr21:48059800-48059950	Caco-2	colon:	n/a	n/a
42	CTCF	chr21:48059760-48059910	GM12872	blood:	n/a	n/a
43	CTCF	chr21:48081200-48081350	HVMF	connective:	n/a	n/a
44	CTCF	chr21:48059760-48059910	GM12873	blood:	n/a	n/a
45	CTCF	chr21:48081180-48081330	AG10803	skin:	n/a	n/a
46	CTCF	chr21:48080800-48080950	HEEpiC	esophagus:	n/a	n/a
47	CTCF	chr21:48063466-48063537	MCF-7	breast:	n/a	n/a
48	CTCF	chr21:48055060-48055210	K562	blood:	n/a	chr21:48055091-48055107
49	CTCF	chr21:48055667-48055698	GM12892	blood:	n/a	n/a
50	CTCF	chr21:48059860-48060010	HCM	heart:	n/a	n/a

(count:2205 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:48055893-48055943	PrEC	prostate:	n/a
2	chr21:48081242-48081292	PANC-1	pancreas:	n/a
3	chr21:48054897-48054947	HNPCEpiC	eye:	n/a
4	chr21:48055631-48055681	NT2-D1	testis:	n/a
5	chr21:48091011-48091061	K562	blood:	n/a
6	chr21:48055519-48055569	GM12891	blood:	n/a
7	chr21:48082402-48082452	HL-60	blood:	n/a
8	chr21:48055212-48055262	PANC-1	pancreas:	n/a
9	chr21:48055715-48055765	HepG2	liver:	n/a
10	chr21:48055893-48055943	PrEC	prostate:	n/a
11	chr21:48081242-48081292	PANC-1	pancreas:	n/a
12	chr21:48054897-48054947	HNPCEpiC	eye:	n/a
13	chr21:48055631-48055681	NT2-D1	testis:	n/a
14	chr21:48091011-48091061	K562	blood:	n/a
15	chr21:48055519-48055569	GM12891	blood:	n/a
16	chr21:48082402-48082452	HL-60	blood:	n/a
17	chr21:48055212-48055262	PANC-1	pancreas:	n/a
18	chr21:48055715-48055765	HepG2	liver:	n/a
19	chr21:48055629-48055679	GM12878	blood:	n/a
20	chr21:48091011-48091061	PrEC	prostate:	n/a
21	chr21:48055366-48055416	SK-N-SH_RA	brain:	n/a
22	chr21:48068585-48068635	Hepatocyte	liver:	n/a
23	chr21:48052757-48052807	HepG2	liver:	n/a
24	chr21:48090508-48090558	GM12892	blood:	n/a
25	chr21:48054897-48054947	Hepatocyte	liver:	n/a
26	chr21:48078809-48078859	BE2_C	brain:	n/a
27	chr21:48090508-48090558	AG10803	skin:	n/a
28	chr21:48055519-48055569	NH-A	brain:	n/a
29	chr21:48055631-48055681	AG09309	skin:	n/a
30	chr21:48081686-48081736	GM12878	blood:	n/a
31	chr21:48091011-48091061	LNCaP	prostate:	n/a
32	chr21:48087978-48088028	AG10803	skin:	n/a
33	chr21:48081066-48081116	GM12891	blood:	n/a
34	chr21:48072745-48072795	HEEpiC	esophagus:	n/a
35	chr21:48055212-48055262	ovcar-3	ovarian:	n/a
36	chr21:48081066-48081116	AoSMC	blood vessel:	n/a
37	chr21:48091011-48091061	A549	lung:	n/a
38	chr21:48055224-48055274	Hela-S3	cervix:	n/a
39	chr21:48068452-48068502	HCT-116	colon:	n/a
40	chr21:48055631-48055681	NH-A	brain:	n/a
41	chr21:48068748-48068798	CMK	blood:	n/a
42	chr21:48055629-48055679	PANC-1	pancreas:	n/a
43	chr21:48055629-48055679	NT2-D1	testis:	n/a
44	chr21:48081242-48081292	MCF-7	breast:	n/a
45	chr21:48068452-48068502	NHBE	bronchial:	n/a
46	chr21:48072745-48072795	Hela-S3	cervix:	n/a
47	chr21:48084674-48084724	GM12878	blood:	n/a
48	chr21:48055519-48055569	HIPEpiC	eye:	n/a
49	chr21:48088046-48088096	T-47D	breast:	n/a
50	chr21:48054563-48054613	HEK293	kidney:	embryo

(count:116 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr21:48066242..48069643-chr21:48070010..48074183,7	K562	blood:
2	chr21:48092221..48094129-chr21:48096913..48098673,2	MCF-7	breast:
3	chr21:48069135..48075784-chr21:48076835..48082817,8	MCF-7	breast:
4	chr21:48042730..48044237-chr21:48044461..48046707,2	K562	blood:
5	chr1:207494972..207495556-chr21:48055180..48055885,2	Hela-S3	cervix:
6	chr21:48054316..48057026-chr21:48067023..48068538,2	K562	blood:
7	chr17:25620789..25621556-chr21:48054884..48055505,2	Hela-S3	cervix:
8	chr21:47875258..47880014-chr21:48054452..48058643,10	K562	blood:
9	chr17:75136430..75137196-chr21:48055351..48055948,2	Hela-S3	cervix:
10	chr21:47742343..47745058-chr21:48054003..48056846,3	K562	blood:
11	chr21:48023339..48026982-chr21:48053855..48056881,6	MCF-7	breast:
12	chr21:48055128..48057107-chr21:48067363..48069357,2	MCF-7	breast:
13	chr21:48085636..48087391-chr21:48088276..48090254,2	K562	blood:
14	chr21:48066242..48069643-chr21:48070010..48074183,7	K562	blood:
15	chr21:48076560..48080046-chr21:48082031..48085407,3	MCF-7	breast:
16	chr1:36396247..36397104-chr21:48055435..48056034,2	HCT-116	colon:
17	chr15:62352142..62352842-chr21:48087098..48087861,2	NB4	blood:
18	chr21:48028979..48030812-chr21:48051870..48054019,2	K562	blood:
19	chr21:48054236..48058001-chr21:48079083..48082780,4	K562	blood:
20	chr21:48081818..48084383-chr21:48086010..48087998,2	MCF-7	breast:
21	chr21:48057607..48061852-chr21:48061868..48066803,5	K562	blood:
22	chr21:48043406..48045723-chr21:48050633..48054621,3	K562	blood:
23	chr21:48045325..48047440-chr21:48054807..48056877,2	K562	blood:
24	chr21:48079857..48085039-chr21:48086180..48089656,6	K562	blood:
25	chr21:48061876..48063858-chr21:48067311..48068866,2	K562	blood:
26	chr21:48055854..48056356-chr6:27860488..27861098,2	Hela-S3	cervix:
27	chr21:48079857..48085039-chr21:48086180..48089656,6	K562	blood:
28	chr21:48054316..48057026-chr21:48067023..48068538,2	K562	blood:
29	chr15:55790459..55791055-chr21:48054984..48055756,2	HCT-116	colon:
30	chr21:48044131..48047004-chr21:48048003..48050751,2	MCF-7	breast:
31	chr21:48021540..48023901-chr21:48055495..48057109,2	MCF-7	breast:
32	chr21:48059291..48062346-chr21:48062349..48064586,4	MCF-7	breast:
33	chr21:48069459..48071150-chr21:48080115..48082921,2	MCF-7	breast:
34	chr21:47647612..47649806-chr21:48055027..48056571,2	K562	blood:
35	chr21:48048775..48050687-chr21:48053494..48055105,2	MCF-7	breast:
36	chr21:48086187..48087903-chr21:48090596..48092720,2	K562	blood:
37	chr21:48054963..48055735-chr3:50329204..50329933,2	NB4	blood:
38	chr21:48054334..48057229-chr21:48086249..48089307,3	MCF-7	breast:
39	chr21:47741705..47745829-chr21:48053977..48057908,5	MCF-7	breast:
40	chr21:48044131..48047004-chr21:48048003..48050751,2	MCF-7	breast:
41	chr21:47878168..47880063-chr21:48054664..48057491,4	MCF-7	breast:
42	chr21:47955411..47957434-chr21:48055066..48056738,2	K562	blood:
43	chr14:75745044..75745708-chr21:48055135..48055722,2	Hela-S3	cervix:
44	chr21:48063366..48065608-chr21:48072817..48075580,2	MCF-7	breast:
45	chr21:48024544..48027148-chr21:48052838..48054939,2	K562	blood:
46	chr21:48091309..48093880-chr21:48095019..48098365,3	K562	blood:
47	chr21:48091309..48093880-chr21:48095019..48098365,3	K562	blood:
48	chr21:48059228..48062672-chr21:48065959..48068776,3	MCF-7	breast:
49	chr21:47979855..47982153-chr21:48055162..48056734,2	MCF-7	breast:
50	chr21:48048002..48052146-chr21:48052427..48057052,6	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-S100B-1	chr21:48073470-48073934	NONHSAT083076
2	lnc-DIP2A-5	chr21:48055527-48055675	NONHSAT083074
3	lnc-DIP2A-5	chr21:48084207-48084862	NONHSAT083074

No data

Variant related genes	Relation type
DSTNP1	TF binding region
PRMT2	TF binding region
DSTNP1	CpG island
PRMT2	CpG island
ENSG00000231473	chromatin interactions
ENSG00000263583	chromatin interactions
ENSG00000233224	chromatin interactions
ENSG00000256061	chromatin interactions
ENSG00000129003	chromatin interactions
ENSG00000261771	chromatin interactions
ENSG00000160285	chromatin interactions
ENSG00000164330	chromatin interactions
ENSG00000118873	chromatin interactions
ENSG00000265692	chromatin interactions
ENSG00000109790	chromatin interactions
ENSG00000160294	chromatin interactions
ENSG00000182362	chromatin interactions
ENSG00000126070	chromatin interactions
ENSG00000139687	chromatin interactions
ENSG00000160307	chromatin interactions
ENSG00000247077	chromatin interactions
ENSG00000197153	chromatin interactions
ENSG00000204054	chromatin interactions
ENSG00000166454	chromatin interactions
ENSG00000196352	chromatin interactions
ENSG00000170345	chromatin interactions
ENSG00000109046	chromatin interactions
ENSG00000160298	chromatin interactions
ENSG00000232065	chromatin interactions
ENSG00000129657	chromatin interactions
ENSG00000202239	chromatin interactions
ENSG00000105699	chromatin interactions
ENSG00000214706	chromatin interactions
ENSG00000260213	chromatin interactions
ENSG00000160305	chromatin interactions
ENSG00000215424	chromatin interactions
ENSG00000160310	chromatin interactions
ENSG00000272283	chromatin interactions
ENSG00000259251	chromatin interactions
ENSG00000160299	chromatin interactions
ENSG00000123358	chromatin interactions
ENSG00000230982	chromatin interactions

Extended variants
information (count: 2204 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:2204 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571976153	chr21:48044613-48044614	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs570270380	chr21:48044674-48044675	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs557042060	chr21:48044737-48044738	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs77089663	chr21:48044739-48044740	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
5	rs114938996	chr21:48044759-48044760	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs116692078	chr21:48044761-48044762	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs570177628	chr21:48044769-48044770	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs76978536	chr21:48044783-48044784	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs557694245	chr21:48044822-48044823	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs574952300	chr21:48044849-48044850	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs371379256	chr21:48044858-48044859	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs112141568	chr21:48044907-48044908	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs9976173	chr21:48044908-48044909	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs189362779	chr21:48044948-48044949	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs552954502	chr21:48044949-48044950	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs147667003	chr21:48044985-48044986	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs569745429	chr21:48045025-48045026	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs550228064	chr21:48045039-48045040	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs568434954	chr21:48045071-48045072	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs535571136	chr21:48045105-48045106	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs113097027	chr21:48045112-48045113	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs565541640	chr21:48045113-48045114	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs142468523	chr21:48045118-48045119	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs557807588	chr21:48045140-48045141	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs569616701	chr21:48045166-48045167	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs373237388	chr21:48045196-48045197	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs555361046	chr21:48045197-48045198	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs540547637	chr21:48045265-48045266	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs139340488	chr21:48045271-48045272	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs573618508	chr21:48045406-48045407	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs8134905	chr21:48045458-48045459	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs191818431	chr21:48045459-48045460	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs145745500	chr21:48045472-48045473	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs564655721	chr21:48045479-48045480	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs574142751	chr21:48045502-48045503	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs184039323	chr21:48045552-48045553	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs8134018	chr21:48045556-48045557	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs148981106	chr21:48045561-48045562	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs547533226	chr21:48045575-48045576	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs386819460	chr21:48045622-48045623	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs34856607	chr21:48045623-48045624	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs565529126	chr21:48045626-48045627	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs532993717	chr21:48045829-48045830	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs549493116	chr21:48045867-48045868	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs368615379	chr21:48045868-48045869	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs188432634	chr21:48045898-48045899	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs569819868	chr21:48045905-48045906	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs143742201	chr21:48045916-48045917	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs28417824	chr21:48045920-48045921	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs8127110	chr21:48045949-48045950	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:36)

Disease	PMID	Source
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	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
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Breast cancer	17899364	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	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 adenocarcinoma	17086460	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

Chromatin state (count:2578 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:48025800-48054800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr21:48037200-48046800	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr21:48038800-48049000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr21:48039200-48048400	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr21:48040000-48044800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr21:48040000-48044800	Enhancers	Fetal Thymus	thymus
7	chr21:48040000-48045000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr21:48040000-48049200	Enhancers	Primary T cells fromperipheralblood	blood
9	chr21:48040200-48044600	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr21:48040400-48044600	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr21:48040400-48044800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr21:48040400-48044800	Enhancers	Brain Cingulate Gyrus	brain
13	chr21:48040400-48044800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
14	chr21:48040800-48044600	Enhancers	Primary hematopoietic stem cells	blood
15	chr21:48041200-48044800	Enhancers	Fetal Muscle Leg	muscle
16	chr21:48041200-48045000	Enhancers	Brain Angular Gyrus	brain
17	chr21:48041800-48044600	Enhancers	Brain Anterior Caudate	brain
18	chr21:48042000-48045200	Weak transcription	Adipose Nuclei	Adipose
19	chr21:48042600-48044800	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr21:48042600-48045600	Enhancers	Primary T cells from cord blood	blood
21	chr21:48042600-48054800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr21:48042800-48044600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr21:48042800-48045200	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr21:48042800-48050600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr21:48043200-48045000	Enhancers	Brain Hippocampus Middle	brain
26	chr21:48043200-48046200	Weak transcription	HepG2	liver
27	chr21:48043200-48046400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr21:48043400-48045200	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr21:48043800-48044800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr21:48044000-48044800	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr21:48044000-48045000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr21:48044000-48045000	Enhancers	Fetal Muscle Trunk	muscle
33	chr21:48044000-48048200	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr21:48044000-48049000	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr21:48044200-48044600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr21:48044200-48044800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr21:48044200-48044800	Flanking Active TSS	Brain Substantia Nigra	brain
38	chr21:48044400-48045200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
39	chr21:48044600-48045200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr21:48044600-48046600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
41	chr21:48044800-48045200	Weak transcription	Fetal Muscle Leg	muscle
42	chr21:48044800-48046200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr21:48044800-48046400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr21:48044800-48047000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
45	chr21:48044800-48047000	ZNF genes & repeats	Fetal Thymus	thymus
46	chr21:48045000-48045400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr21:48045200-48045400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr21:48045200-48045600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr21:48045200-48045600	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr21:48045200-48045600	ZNF genes & repeats	Fetal Muscle Leg	muscle

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