Variant report

Variant	nsv1059706
Chromosome Location	chr21:48047674-48082680
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:906)
CpG islands
(count:1590)
Chromatin interactive
region (count:91)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:906 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

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	chr21:48055269-48055747	A549	lung:	n/a	n/a
3	ATF3	chr21:48054937-48055231	K562	blood:	n/a	n/a
4	ATF3	chr21:48081183-48081378	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF3	chr21:48055226-48055739	K562	blood:	n/a	chr21:48055237-48055245 chr21:48055268-48055277
6	ATF3	chr21:48055257-48055907	A549	lung:	n/a	chr21:48055268-48055277
7	ATF3	chr21:48055269-48055855	K562	blood:	n/a	n/a
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	BCLAF1	chr21:48081154-48081530	GM12878	blood:	n/a	n/a
13	BCLAF1	chr21:48054738-48055175	GM12878	blood:	n/a	n/a
14	CBX3	chr21:48054356-48056106	K562	blood:	n/a	n/a
15	CBX3	chr21:48075124-48075496	K562	blood:	n/a	n/a
16	CEBPB	chr21:48064981-48065204	K562	blood:	n/a	n/a
17	CEBPB	chr21:48047658-48048067	K562	blood:	n/a	n/a
18	CEBPB	chr21:48047791-48047968	K562	blood:	n/a	n/a
19	CEBPB	chr21:48058257-48058541	K562	blood:	n/a	n/a
20	CEBPD	chr21:48054859-48055913	K562	blood:	n/a	n/a
21	CEBPD	chr21:48055110-48055815	HepG2	liver:	n/a	n/a
22	CREB1	chr21:48054844-48055240	ECC-1	luminal epithelium:	n/a	n/a
23	CREB1	chr21:48054804-48055837	H1-hESC	embryonic stem cell:	n/a	n/a
24	CREB1	chr21:48054821-48056265	HepG2	liver:	n/a	n/a
25	CREB1	chr21:48054788-48056180	GM12878	blood:	n/a	n/a
26	CREB1	chr21:48054848-48056254	K562	blood:	n/a	n/a
27	CREB1	chr21:48054806-48056067	H1-hESC	embryonic stem cell:	n/a	n/a
28	CREB1	chr21:48081058-48081481	H1-hESC	embryonic stem cell:	n/a	n/a
29	CREB1	chr21:48054940-48056118	A549	lung:	n/a	n/a
30	CREB1	chr21:48054978-48055140	A549	lung:	n/a	n/a
31	CREB1	chr21:48054800-48055327	ECC-1	luminal epithelium:	n/a	n/a
32	CTCF	chr21:48059820-48059970	GM12873	blood:	n/a	n/a
33	CTCF	chr21:48059775-48059943	K562	blood:	n/a	n/a
34	CTCF	chr21:48081080-48081230	HFF-Myc	foreskin:	n/a	n/a
35	CTCF	chr21:48081203-48081373	Gliobla	brain:	n/a	n/a
36	CTCF	chr21:48081160-48081400	Lung_OC	lung:	n/a	n/a
37	CTCF	chr21:48055928-48056040	MCF-7	breast:	n/a	n/a
38	CTCF	chr21:48054980-48055130	HEK293	kidney:	n/a	chr21:48055091-48055107
39	CTCF	chr21:48081200-48081350	GM12872	blood:	n/a	n/a
40	CTCF	chr21:48081170-48081426	Fibrobl	skin:	n/a	n/a
41	CTCF	chr21:48081180-48081330	HEEpiC	esophagus:	n/a	n/a
42	CTCF	chr21:48059780-48059930	HMF	breast:	n/a	n/a
43	CTCF	chr21:48055043-48055197	GM12891	blood:	n/a	chr21:48055091-48055107
44	CTCF	chr21:48059680-48059830	HFF-Myc	foreskin:	n/a	n/a
45	CTCF	chr21:48059780-48059930	NHDF-neo	bronchial:	n/a	n/a
46	CTCF	chr21:48065020-48065170	HMEC	breast:	n/a	n/a
47	CTCF	chr21:48055000-48055150	HAc	cerebellar:	n/a	chr21:48055091-48055107
48	CTCF	chr21:48059505-48060250	SK-N-SH	brain:	n/a	n/a
49	CTCF	chr21:48081200-48081350	GM12878	blood:	n/a	n/a
50	CTCF	chr21:48080600-48080750	GM12868	blood:	n/a	n/a

(count:1590 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:48079700-48079750	SK-N-MC	brain:	n/a
2	chr21:48055715-48055765	SK-N-MC	brain:	n/a
3	chr21:48081619-48081669	HRCEpiC	kidney:	n/a
4	chr21:48068638-48068688	HepG2	liver:	n/a
5	chr21:48079700-48079750	SK-N-MC	brain:	n/a
6	chr21:48055715-48055765	SK-N-MC	brain:	n/a
7	chr21:48081619-48081669	HRCEpiC	kidney:	n/a
8	chr21:48068638-48068688	HepG2	liver:	n/a
9	chr21:48068748-48068798	PFSK-1	brain:	n/a
10	chr21:48055338-48055388	BE2_C	brain:	n/a
11	chr21:48052757-48052807	HMEC	breast:	n/a
12	chr21:48055893-48055943	GM12878	blood:	n/a
13	chr21:48081066-48081116	T-47D	breast:	n/a
14	chr21:48055212-48055262	HEEpiC	esophagus:	n/a
15	chr21:48055224-48055274	NB4	blood:	n/a
16	chr21:48055212-48055262	H1-hESC	embryonic stem cell:	embryo
17	chr21:48055893-48055943	HNPCEpiC	eye:	n/a
18	chr21:48068585-48068635	HIPEpiC	eye:	n/a
19	chr21:48081066-48081116	HRE	kidney:	n/a
20	chr21:48068748-48068798	RPTEC	kidney:	n/a
21	chr21:48054563-48054613	HRE	kidney:	n/a
22	chr21:48055519-48055569	AG10803	skin:	n/a
23	chr21:48056967-48057017	LNCaP	prostate:	n/a
24	chr21:48055631-48055681	HNPCEpiC	eye:	n/a
25	chr21:48081066-48081116	HL-60	blood:	n/a
26	chr21:48069229-48069279	PANC-1	pancreas:	n/a
27	chr21:48081686-48081736	HL-60	blood:	n/a
28	chr21:48055519-48055569	PrEC	prostate:	n/a
29	chr21:48072745-48072795	NH-A	brain:	n/a
30	chr21:48082402-48082452	MCF10A-Er-Src	breast:	n/a
31	chr21:48055366-48055416	AG09319	gingival:	n/a
32	chr21:48082402-48082452	Caco-2	colon:	n/a
33	chr21:48054563-48054613	AG10803	skin:	n/a
34	chr21:48055366-48055416	HCT-116	colon:	n/a
35	chr21:48055715-48055765	SK-N-SH_RA	brain:	n/a
36	chr21:48081066-48081116	AG04449	skin:	fetal
37	chr21:48055366-48055416	Hela-S3	cervix:	n/a
38	chr21:48069229-48069279	RPTEC	kidney:	n/a
39	chr21:48068452-48068502	SKMC	muscle:	n/a
40	chr21:48055366-48055416	HRCEpiC	kidney:	n/a
41	chr21:48082402-48082452	GM06990	blood:	n/a
42	chr21:48072745-48072795	PrEC	prostate:	n/a
43	chr21:48055715-48055765	ECC-1	luminal epithelium:	n/a
44	chr21:48055631-48055681	GM12892	blood:	n/a
45	chr21:48081619-48081669	HCM	heart:	n/a
46	chr21:48081066-48081116	AG04450	lung:	fetal
47	chr21:48055629-48055679	T-47D	breast:	n/a
48	chr21:48069229-48069279	A549	lung:	n/a
49	chr21:48068452-48068502	HEEpiC	esophagus:	n/a
50	chr21:48079700-48079750	GM06990	blood:	n/a

(count:91 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr21:48054316..48057026-chr21:48067023..48068538,2	K562	blood:
2	chr13:48877615..48878228-chr21:48055384..48056111,2	Hela-S3	cervix:
3	chr21:48028979..48030812-chr21:48051870..48054019,2	K562	blood:
4	chr21:48054348..48057362-chr21:48062068..48064635,4	K562	blood:
5	chr21:48063366..48065608-chr21:48072817..48075580,2	MCF-7	breast:
6	chr17:75136430..75137196-chr21:48055351..48055948,2	Hela-S3	cervix:
7	chr21:47741705..47745829-chr21:48053977..48057908,5	MCF-7	breast:
8	chr21:48048775..48050687-chr21:48053494..48055105,2	MCF-7	breast:
9	chr21:48057607..48061852-chr21:48061868..48066803,5	K562	blood:
10	chr21:48068008..48071695-chr21:48072637..48076225,4	MCF-7	breast:
11	chr21:48062111..48065887-chr21:48068207..48070347,4	K562	blood:
12	chr12:52444987..52445506-chr21:48055114..48055948,2	Hela-S3	cervix:
13	chr21:48054348..48057362-chr21:48062068..48064635,4	K562	blood:
14	chr21:47647612..47649806-chr21:48055027..48056571,2	K562	blood:
15	chr14:75745044..75745708-chr21:48055135..48055722,2	Hela-S3	cervix:
16	chr21:48070689..48072483-chr21:48074893..48076580,2	K562	blood:
17	chr21:48075305..48080605-chr21:48080906..48086226,8	K562	blood:
18	chr21:48055080..48055596-chr4:39046312..39046846,2	Hela-S3	cervix:
19	chr21:48054258..48057073-chr21:48079765..48082823,3	MCF-7	breast:
20	chr21:48062111..48065887-chr21:48068207..48070347,4	K562	blood:
21	chr21:48069459..48071150-chr21:48080115..48082921,2	MCF-7	breast:
22	chr21:48023339..48026982-chr21:48053855..48056881,6	MCF-7	breast:
23	chr21:48021540..48023901-chr21:48055495..48057109,2	MCF-7	breast:
24	chr21:48069459..48071150-chr21:48080115..48082921,2	MCF-7	breast:
25	chr21:48055128..48057107-chr21:48067363..48069357,2	MCF-7	breast:
26	chr21:48053543..48058001-chr21:48077675..48082884,7	K562	blood:
27	chr21:48054236..48058001-chr21:48079083..48082780,4	K562	blood:
28	chr21:48060242..48061768-chr21:48067203..48069448,2	K562	blood:
29	chr21:47979038..47981600-chr21:48055778..48057959,2	MCF-7	breast:
30	chr21:47955411..47957434-chr21:48055066..48056738,2	K562	blood:
31	chr21:48005218..48007630-chr21:48055834..48057649,2	K562	blood:
32	chr21:48052631..48057186-chr21:48078871..48083170,5	MCF-7	breast:
33	chr21:47705393..47707000-chr21:48055095..48056977,2	K562	blood:
34	chr21:48070689..48072483-chr21:48074893..48076580,2	K562	blood:
35	chr16:81069280..81069978-chr21:48054904..48055633,2	Hela-S3	cervix:
36	chr17:25620789..25621556-chr21:48054884..48055505,2	Hela-S3	cervix:
37	chr21:47945113..47947005-chr21:48054397..48057093,2	MCF-7	breast:
38	chr17:80250394..80251099-chr21:48055154..48055814,2	Hela-S3	cervix:
39	chr21:48025522..48028149-chr21:48060514..48063166,2	MCF-7	breast:
40	chr21:48063366..48065608-chr21:48072817..48075580,2	MCF-7	breast:
41	chr21:48066570..48068825-chr21:48072683..48075681,2	K562	blood:
42	chr1:220445319..220445878-chr21:48055351..48056081,2	Hela-S3	cervix:
43	chr12:133287222..133287841-chr21:48055027..48055792,2	NB4	blood:
44	chr21:48076560..48080046-chr21:48082031..48085407,3	MCF-7	breast:
45	chr21:48054376..48056073-chr21:48072079..48074243,2	K562	blood:
46	chr19:35740149..35740892-chr21:48055035..48055759,2	Hela-S3	cervix:
47	chr21:48055128..48057107-chr21:48067363..48069357,2	MCF-7	breast:
48	chr10:2781607..2783125-chr21:48064505..48066265,2	MCF-7	breast:
49	chr21:47979855..47982153-chr21:48055162..48056734,2	MCF-7	breast:
50	chr21:48059228..48062672-chr21:48065959..48068776,3	MCF-7	breast:

(count:2 , 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

No data

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

Extended variants
information (count: 1458 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:1458 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35527864	chr21:48047703-48047704	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs188634762	chr21:48047717-48047718	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs191364138	chr21:48047733-48047734	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs568905618	chr21:48047772-48047773	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs557153346	chr21:48047820-48047821	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs529766825	chr21:48047823-48047824	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs549123925	chr21:48047845-48047846	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs34038027	chr21:48047868-48047869	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs534980108	chr21:48047897-48047898	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs542776654	chr21:48047939-48047940	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs571531908	chr21:48047940-48047941	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs111780548	chr21:48047948-48047949	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs557094282	chr21:48047958-48047959	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs575654933	chr21:48047961-48047962	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs543147558	chr21:48048011-48048012	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs1023351	chr21:48048026-48048027	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs527283362	chr21:48048035-48048036	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs183464695	chr21:48048083-48048084	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs565212351	chr21:48048122-48048123	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs149300939	chr21:48048123-48048124	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs187046850	chr21:48048163-48048164	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs562353008	chr21:48048169-48048170	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs111292558	chr21:48048215-48048216	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs148494705	chr21:48048236-48048237	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs113523095	chr21:48048268-48048269	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs545291636	chr21:48048309-48048310	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs35888790	chr21:48048368-48048369	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs567509145	chr21:48048517-48048518	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs191668255	chr21:48048543-48048544	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs9653796	chr21:48048565-48048566	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs34208857	chr21:48048569-48048570	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs145285988	chr21:48048586-48048587	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs538975737	chr21:48048612-48048613	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs9637230	chr21:48048625-48048626	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs185283875	chr21:48048628-48048629	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs147209406	chr21:48048636-48048637	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs555136474	chr21:48048642-48048643	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs558829679	chr21:48048659-48048660	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs532773509	chr21:48048696-48048697	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs540399823	chr21:48048727-48048728	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs558487548	chr21:48048741-48048742	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs577026237	chr21:48048750-48048751	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs140733155	chr21:48048773-48048774	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs372828547	chr21:48048777-48048778	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs562499360	chr21:48048784-48048785	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs560100978	chr21:48048859-48048860	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs142905333	chr21:48048864-48048865	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs529103513	chr21:48048892-48048893	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs144568873	chr21:48048896-48048897	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs75420978	chr21:48048908-48048909	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	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:1976 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:48025800-48054800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr21:48038800-48049000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr21:48039200-48048400	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr21:48040000-48049200	Enhancers	Primary T cells fromperipheralblood	blood
5	chr21:48042600-48054800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr21:48042800-48050600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr21:48044000-48048200	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr21:48044000-48049000	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr21:48045600-48049000	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr21:48046200-48047800	Enhancers	HepG2	liver
11	chr21:48046200-48048000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr21:48046200-48050800	Enhancers	Primary T cells from cord blood	blood
13	chr21:48046400-48047800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr21:48046400-48047800	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr21:48046400-48048000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr21:48046400-48048000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr21:48046800-48047800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr21:48046800-48054800	Weak transcription	Right Atrium	heart
19	chr21:48047000-48047800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr21:48047000-48048000	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr21:48047000-48048600	Weak transcription	Fetal Thymus	thymus
22	chr21:48047000-48048800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr21:48047400-48047800	Enhancers	Primary B cells from cord blood	blood
24	chr21:48047400-48047800	Enhancers	NHEK	skin
25	chr21:48047400-48048000	Enhancers	Placenta	Placenta
26	chr21:48047600-48047800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
27	chr21:48047600-48048200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr21:48047600-48049000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
29	chr21:48047600-48049200	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr21:48047800-48049000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr21:48047800-48053200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr21:48047800-48053800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr21:48048000-48052200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr21:48048000-48052600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr21:48048200-48052200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr21:48048400-48048800	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr21:48048600-48048800	ZNF genes & repeats	Fetal Thymus	thymus
38	chr21:48048600-48049000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr21:48048600-48049000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr21:48048800-48049000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr21:48048800-48049000	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr21:48048800-48049000	Bivalent Enhancer	K562	blood
43	chr21:48049000-48052200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr21:48049000-48052400	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr21:48049000-48052400	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr21:48049000-48052400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr21:48049000-48053400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr21:48049000-48053800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr21:48049000-48053800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr21:48049000-48054200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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