Variant report

Variant	nsv587842
Chromosome Location	chr21:46641017-46670752
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:417)
CpG islands
(count:122)
Chromatin interactive
region (count:30)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:3)

(count:417 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr21:46655505-46655649	K562	blood:	n/a	n/a
2	ATF1	chr21:46648114-46648490	K562	blood:	n/a	n/a
3	ATF1	chr21:46655279-46655684	K562	blood:	n/a	n/a
4	BACH1	chr21:46668236-46668526	H1-hESC	embryonic stem cell:	n/a	n/a
5	BHLHE40	chr21:46646725-46646884	GM12878	blood:	n/a	n/a
6	CBX3	chr21:46663486-46664090	K562	blood:	n/a	n/a
7	CBX3	chr21:46663480-46663975	K562	blood:	n/a	n/a
8	CBX3	chr21:46663474-46663950	HCT-116	colon:	n/a	n/a
9	CEBPB	chr21:46647938-46648613	IMR90	lung:	n/a	n/a
10	CTCF	chr21:46669240-46669390	HMEC	breast:	n/a	chr21:46669259-46669268
11	CTCF	chr21:46669120-46669270	HepG2	liver:	n/a	chr21:46669259-46669268
12	CTCF	chr21:46645683-46645899	LNCaP	prostate:	n/a	n/a
13	CTCF	chr21:46656434-46656735	T-47D	breast:	n/a	n/a
14	CTCF	chr21:46656463-46656652	HepG2	liver:	n/a	n/a
15	CTCF	chr21:46656546-46656678	LNCaP	prostate:	n/a	n/a
16	CTCF	chr21:46648000-46648150	HPF	lung:	n/a	n/a
17	CTCF	chr21:46647900-46648050	HUVEC	blood vessel:	n/a	n/a
18	CTCF	chr21:46648040-46648190	HCPEpiC	choroid plexus:	n/a	n/a
19	CTCF	chr21:46669180-46669330	AoAF	blood vessel:	n/a	chr21:46669259-46669268
20	CTCF	chr21:46647780-46647930	AG04449	skin:	n/a	chr21:46647869-46647882
21	CTCF	chr21:46656484-46656742	MCF-7	breast:	n/a	n/a
22	CTCF	chr21:46656540-46656690	GM12878	blood:	n/a	n/a
23	CTCF	chr21:46668360-46668485	HepG2	liver:	n/a	chr21:46668471-46668484
24	CTCF	chr21:46669200-46669350	HCPEpiC	choroid plexus:	n/a	chr21:46669259-46669268
25	CTCF	chr21:46656460-46656610	HEK293	kidney:	n/a	n/a
26	CTCF	chr21:46656580-46656730	NHEK	skin:	n/a	n/a
27	CTCF	chr21:46656542-46656711	GM19240	blood:	n/a	n/a
28	CTCF	chr21:46647800-46647950	SK-N-SH_RA	brain:	n/a	chr21:46647869-46647882
29	CTCF	chr21:46656501-46656720	GM12891	blood:	n/a	n/a
30	CTCF	chr21:46656520-46656670	GM06990	blood:	n/a	n/a
31	CTCF	chr21:46669220-46669370	K562	blood:	n/a	chr21:46669259-46669268
32	CTCF	chr21:46648060-46648210	AG04449	skin:	n/a	n/a
33	CTCF	chr21:46669140-46669290	HBMEC	blood vessel:	n/a	chr21:46669259-46669268
34	CTCF	chr21:46656501-46656735	ProgFib	skin:	n/a	n/a
35	CTCF	chr21:46647800-46647950	WERI-Rb-1	eye:	n/a	chr21:46647869-46647882
36	CTCF	chr21:46656560-46656710	GM12868	blood:	n/a	n/a
37	CTCF	chr21:46647860-46648010	AG09309	skin:	n/a	chr21:46647869-46647882
38	CTCF	chr21:46668378-46668451	Pancreas_OC	pancreas:	n/a	n/a
39	CTCF	chr21:46647800-46647950	HPAF	blood vessel:	n/a	chr21:46647869-46647882
40	CTCF	chr21:46656520-46656670	GM12874	blood:	n/a	n/a
41	CTCF	chr21:46656520-46656670	HBMEC	blood vessel:	n/a	n/a
42	CTCF	chr21:46647720-46647870	HPF	lung:	n/a	n/a
43	CTCF	chr21:46669160-46669310	HepG2	liver:	n/a	chr21:46669259-46669268
44	CTCF	chr21:46656492-46656739	MCF-7	breast:	n/a	n/a
45	CTCF	chr21:46645648-46645897	K562	blood:	n/a	n/a
46	CTCF	chr21:46656503-46656722	Fibrobl	skin:	n/a	n/a
47	CTCF	chr21:46647740-46647890	HRE	kidney:	n/a	chr21:46647869-46647882
48	CTCF	chr21:46656520-46656670	GM12873	blood:	n/a	n/a
49	CTCF	chr21:46656500-46656650	HEEpiC	esophagus:	n/a	n/a
50	CTCF	chr21:46656522-46656729	GM12878	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:46646076-46646126	PrEC	prostate:	n/a
2	chr21:46644306-46644356	GM12878	blood:	n/a
3	chr21:46646076-46646126	HCPEpiC	choroid plexus:	n/a
4	chr21:46646076-46646126	AoSMC	blood vessel:	n/a
5	chr21:46644306-46644356	ovcar-3	ovarian:	n/a
6	chr21:46644306-46644356	Hepatocyte	liver:	n/a
7	chr21:46644306-46644356	AG09309	skin:	n/a
8	chr21:46646076-46646126	T-47D	breast:	n/a
9	chr21:46644306-46644356	T-47D	breast:	n/a
10	chr21:46646076-46646126	ECC-1	luminal epithelium:	n/a
11	chr21:46644306-46644356	HEK293	kidney:	embryo
12	chr21:46646076-46646126	HRE	kidney:	n/a
13	chr21:46646076-46646126	SKMC	muscle:	n/a
14	chr21:46644306-46644356	LNCaP	prostate:	n/a
15	chr21:46646076-46646126	PANC-1	pancreas:	n/a
16	chr21:46646076-46646126	Jurkat	blood:	n/a
17	chr21:46644306-46644356	HNPCEpiC	eye:	n/a
18	chr21:46646076-46646126	AG04449	skin:	fetal
19	chr21:46644306-46644356	NH-A	brain:	n/a
20	chr21:46646076-46646126	U87	brain:	n/a
21	chr21:46644306-46644356	HRPEpiC	eye:	n/a
22	chr21:46644306-46644356	SK-N-SH_RA	brain:	n/a
23	chr21:46646076-46646126	A549	lung:	n/a
24	chr21:46646076-46646126	AG04450	lung:	fetal
25	chr21:46644306-46644356	PrEC	prostate:	n/a
26	chr21:46646076-46646126	SK-N-MC	brain:	n/a
27	chr21:46646076-46646126	GM12892	blood:	n/a
28	chr21:46646076-46646126	IMR90	lung:	fetal
29	chr21:46646076-46646126	PFSK-1	brain:	n/a
30	chr21:46644306-46644356	GM12891	blood:	n/a
31	chr21:46646076-46646126	HEEpiC	esophagus:	n/a
32	chr21:46646076-46646126	HAEpiC	amniotic membrane:	n/a
33	chr21:46646076-46646126	HL-60	blood:	n/a
34	chr21:46646076-46646126	Caco-2	colon:	n/a
35	chr21:46644306-46644356	HCM	heart:	n/a
36	chr21:46646076-46646126	NB4	blood:	n/a
37	chr21:46646076-46646126	NH-A	brain:	n/a
38	chr21:46646076-46646126	SAEC	small airway:	n/a
39	chr21:46646076-46646126	RPTEC	kidney:	n/a
40	chr21:46646076-46646126	GM12891	blood:	n/a
41	chr21:46646076-46646126	Hela-S3	cervix:	n/a
42	chr21:46646076-46646126	MCF-7	breast:	n/a
43	chr21:46644306-46644356	HMEC	breast:	n/a
44	chr21:46646076-46646126	SK-N-SH_RA	brain:	n/a
45	chr21:46646076-46646126	Hepatocyte	liver:	n/a
46	chr21:46646076-46646126	HIPEpiC	eye:	n/a
47	chr21:46644306-46644356	Hela-S3	cervix:	n/a
48	chr21:46646076-46646126	ovcar-3	ovarian:	n/a
49	chr21:46646076-46646126	AG09319	gingival:	n/a
50	chr21:46644306-46644356	NT2-D1	testis:	n/a

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:46664716..46666767-chr21:46668227..46671842,4	K562	blood:
2	chr21:46642556..46644415-chr21:46646338..46649203,2	MCF-7	breast:
3	chr21:46644635..46649401-chr21:46653595..46657283,5	MCF-7	breast:
4	chr21:46645128..46646956-chr21:46675006..46677594,2	MCF-7	breast:
5	chr21:46653586..46657139-chr21:46668984..46671071,3	K562	blood:
6	chr21:46664716..46666767-chr21:46668227..46671842,4	K562	blood:
7	chr21:46660560..46663002-chr21:46663883..46666664,2	K562	blood:
8	chr21:46642556..46644415-chr21:46646338..46649203,2	MCF-7	breast:
9	chr21:46495879..46498410-chr21:46645680..46647627,2	K562	blood:
10	chr21:46646544..46648197-chr21:46659492..46661495,2	MCF-7	breast:
11	chr21:46559992..46561015-chr21:46656105..46657080,10	MCF-7	breast:
12	chr21:46626846..46627631-chr21:46656273..46657060,3	MCF-7	breast:
13	chr21:46492783..46494831-chr21:46669105..46671961,2	K562	blood:
14	chr21:46639784..46642499-chr21:46642980..46645801,2	K562	blood:
15	chr21:46646544..46648197-chr21:46659492..46661495,2	MCF-7	breast:
16	chr21:46617772..46620872-chr21:46645062..46648136,3	K562	blood:
17	chr21:46637241..46640221-chr21:46640373..46643310,2	MCF-7	breast:
18	chr21:46651731..46653403-chr21:46671567..46674343,2	MCF-7	breast:
19	chr21:46494100..46496574-chr21:46644222..46646610,2	K562	blood:
20	chr21:46664721..46667302-chr21:46670973..46673031,2	MCF-7	breast:
21	chr21:46660560..46663002-chr21:46663883..46666664,2	K562	blood:
22	chr21:46664212..46666311-chr21:46925426..46928389,2	K562	blood:
23	chr21:46647868..46649506-chr21:46653767..46655809,2	K562	blood:
24	chr21:46629095..46632023-chr21:46643087..46645467,2	MCF-7	breast:
25	chr21:46605915..46607896-chr21:46668846..46670608,2	K562	blood:
26	chr21:46662098..46664433-chr21:46707407..46709213,2	MCF-7	breast:
27	chr21:46558158..46559139-chr21:46656080..46657000,2	MCF-7	breast:
28	chr21:46639784..46642499-chr21:46642980..46645801,2	K562	blood:
29	chr21:46649193..46651949-chr21:46675292..46677661,2	K562	blood:
30	chr21:46660126..46662433-chr21:46678344..46680642,2	K562	blood:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ADARB1-2	chr21:46663447-46663541	ENSG00000182586.3
2	lnc-ADARB1-1	chr21:46666122-46666225	XLOC_013980
3	lnc-ADARB1-2	chr21:46654255-46654391	ENSG00000182586.3
4	lnc-ADARB1-1	chr21:46666189-46666225	NONHSAT082923
5	lnc-ADARB1-1	chr21:46666716-46667046	NONHSAT082923
6	lnc-ADARB1-1	chr21:46666712-46667089	XLOC_013980
7	lnc-ADARB1-2	chr21:46654267-46654421	XLOC_013979
8	lnc-ADARB1-2	chr21:46663447-46663541	XLOC_013979

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location
1	ADARB1	hsa-miR-193b-3p	chr21:46642908-46642929
2	ADARB1	hsa-miR-17-5p	chr21:46646033-46646055
3	ADARB1	hsa-miR-93-5p	chr21:46646033-46646055

Variant related genes	Relation type
LINC00334	TF binding region
LINC00334	CpG island
ENSG00000182871	chromatin interactions
ENSG00000235374	chromatin interactions
ENSG00000215447	chromatin interactions
ENSG00000186866	chromatin interactions
ENSG00000182586	chromatin interactions
ENSG00000268856	chromatin interactions
ENSG00000197381	chromatin interactions
BTAF1	miRNA target sites

Extended variants
information (count: 1376 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:1376 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2838818	chr21:46641017-46641018	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs546264995	chr21:46641027-46641028	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs116646897	chr21:46641047-46641048	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs192233885	chr21:46641117-46641118	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs553540241	chr21:46641140-46641141	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs76243649	chr21:46641160-46641161	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs184435702	chr21:46641190-46641191	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs113381845	chr21:46641193-46641194	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs370340837	chr21:46641202-46641203	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577132585	chr21:46641233-46641234	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187908889	chr21:46641289-46641290	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192383162	chr21:46641333-46641334	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564361751	chr21:46641365-46641366	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs530210582	chr21:46641420-46641421	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542354567	chr21:46641430-46641431	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs9974131	chr21:46641446-46641447	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs527910713	chr21:46641454-46641455	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs116452425	chr21:46641488-46641489	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552802285	chr21:46641494-46641495	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543789457	chr21:46641540-46641541	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs550817563	chr21:46641550-46641551	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs147319604	chr21:46641554-46641555	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs75525801	chr21:46641617-46641618	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113828132	chr21:46641646-46641647	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs118138832	chr21:46641647-46641648	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs374701682	chr21:46641649-46641650	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112672492	chr21:46641664-46641665	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs73907280	chr21:46641692-46641693	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs553452064	chr21:46641693-46641694	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372113670	chr21:46641718-46641719	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532926973	chr21:46641721-46641722	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs77033783	chr21:46641743-46641744	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs539270095	chr21:46641759-46641760	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536248241	chr21:46641760-46641761	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs111552695	chr21:46641762-46641763	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs576256616	chr21:46641785-46641786	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112186079	chr21:46641802-46641803	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543743757	chr21:46641803-46641804	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113130866	chr21:46641827-46641828	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551454333	chr21:46641874-46641875	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs147589975	chr21:46641878-46641879	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542315512	chr21:46641882-46641883	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs111560804	chr21:46641901-46641902	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374591931	chr21:46641912-46641913	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs367997843	chr21:46641938-46641939	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs143716305	chr21:46641960-46641961	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs1051367	chr21:46641968-46641969	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs527821718	chr21:46641974-46641975	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201552994	chr21:46641993-46641994	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs141891675	chr21:46641998-46641999	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
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
Breast cancer	17142309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	17426248	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:542 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46589000-46646000	Weak transcription	Colonic Mucosa	Colon
2	chr21:46610000-46644800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr21:46610400-46641800	Weak transcription	HepG2	liver
4	chr21:46610800-46641200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr21:46610800-46647800	Weak transcription	Brain Angular Gyrus	brain
6	chr21:46611000-46644600	Weak transcription	Duodenum Mucosa	Duodenum
7	chr21:46611000-46645000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr21:46625000-46645000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr21:46628600-46644200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr21:46628800-46644600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr21:46628800-46644800	Strong transcription	HSMM	muscle
12	chr21:46629600-46645400	Weak transcription	NHLF	lung
13	chr21:46632600-46643200	Weak transcription	HUVEC	blood vessel
14	chr21:46632600-46644200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr21:46632600-46647000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr21:46637400-46646000	Strong transcription	Hela-S3	cervix
17	chr21:46637800-46644000	Strong transcription	Primary T cells from cord blood	blood
18	chr21:46637800-46644000	Strong transcription	Primary T helper cells PMA-I stimulated	--
19	chr21:46637800-46644000	Weak transcription	Psoas Muscle	Psoas
20	chr21:46637800-46644800	Strong transcription	Muscle Satellite Cultured Cells	--
21	chr21:46637800-46668600	Weak transcription	Right Atrium	heart
22	chr21:46638000-46644200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr21:46638200-46642200	Weak transcription	Primary hematopoietic stem cells	blood
24	chr21:46638200-46643600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr21:46638200-46644000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr21:46638400-46642000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr21:46638400-46644000	Strong transcription	Fetal Muscle Trunk	muscle
28	chr21:46638400-46644200	Strong transcription	Fetal Muscle Leg	muscle
29	chr21:46638400-46644400	Strong transcription	Fetal Stomach	stomach
30	chr21:46638400-46646400	Weak transcription	Fetal Intestine Large	intestine
31	chr21:46638600-46643600	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr21:46638600-46646600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr21:46638800-46645000	Weak transcription	NH-A	brain
34	chr21:46639200-46644600	Strong transcription	Stomach Smooth Muscle	stomach
35	chr21:46639600-46641200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr21:46639600-46641200	Enhancers	Fetal Thymus	thymus
37	chr21:46639600-46643800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr21:46639600-46644000	Strong transcription	Gastric	stomach
39	chr21:46639600-46644400	Strong transcription	Skeletal Muscle Male	skeletal muscle
40	chr21:46639800-46642000	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr21:46639800-46643200	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr21:46639800-46646400	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr21:46639800-46648000	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr21:46640000-46644000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr21:46640200-46641600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr21:46640200-46642200	Strong transcription	Sigmoid Colon	Sigmoid Colon
47	chr21:46640200-46642400	Strong transcription	Fetal Intestine Small	intestine
48	chr21:46640200-46643800	Strong transcription	Brain Anterior Caudate	brain
49	chr21:46640200-46643800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr21:46640200-46644000	Strong transcription	Pancreas	Pancrea

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