Variant report

Variant	nsv587076
Chromosome Location	chr21:16956866-17145011
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2245)
CpG islands
(count:610)
Chromatin interactive
region (count:141)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2245 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr21:17032123-17032416	HepG2	liver:	n/a	n/a
2	ARID3A	chr21:17126991-17127305	HepG2	liver:	n/a	n/a
3	ARID3A	chr21:16964668-16964944	HepG2	liver:	n/a	n/a
4	ARID3A	chr21:17118246-17118446	K562	blood:	n/a	n/a
5	ARID3A	chr21:17109712-17109843	K562	blood:	n/a	n/a
6	ARID3A	chr21:17110578-17110811	K562	blood:	n/a	n/a
7	ARID3A	chr21:17139348-17139571	HepG2	liver:	n/a	n/a
8	ARID3A	chr21:17000298-17000319	HepG2	liver:	n/a	n/a
9	ARID3A	chr21:16964646-16964900	K562	blood:	n/a	n/a
10	ARID3A	chr21:17121292-17121789	HepG2	liver:	n/a	n/a
11	ARID3A	chr21:17101358-17101664	K562	blood:	n/a	n/a
12	ARID3A	chr21:17133756-17134220	HepG2	liver:	n/a	n/a
13	ARID3A	chr21:17116031-17116119	K562	blood:	n/a	n/a
14	ARID3A	chr21:17054516-17054801	HepG2	liver:	n/a	n/a
15	ARID3A	chr21:17102314-17102494	HepG2	liver:	n/a	n/a
16	ARID3A	chr21:17113119-17113452	K562	blood:	n/a	n/a
17	ARID3A	chr21:17103323-17105043	K562	blood:	n/a	n/a
18	ARID3A	chr21:17101689-17101922	HepG2	liver:	n/a	n/a
19	ARID3A	chr21:17107185-17108441	K562	blood:	n/a	n/a
20	ARID3A	chr21:17117317-17117631	K562	blood:	n/a	n/a
21	ARID3A	chr21:17121091-17122489	K562	blood:	n/a	n/a
22	ATF1	chr21:17067875-17067961	K562	blood:	n/a	n/a
23	ATF1	chr21:17121788-17121996	K562	blood:	n/a	n/a
24	ATF1	chr21:17079030-17079390	K562	blood:	n/a	n/a
25	ATF1	chr21:17104724-17104944	K562	blood:	n/a	n/a
26	ATF1	chr21:17115924-17116267	K562	blood:	n/a	n/a
27	ATF1	chr21:17074263-17074486	K562	blood:	n/a	n/a
28	ATF1	chr21:17114429-17114749	K562	blood:	n/a	n/a
29	ATF2	chr21:17125220-17125829	H1-hESC	embryonic stem cell:	n/a	n/a
30	ATF2	chr21:17125205-17125852	H1-hESC	embryonic stem cell:	n/a	n/a
31	ATF3	chr21:17125302-17125720	H1-hESC	embryonic stem cell:	n/a	n/a
32	ATF3	chr21:17104993-17105272	K562	blood:	n/a	n/a
33	BACH1	chr21:17121327-17122205	K562	blood:	n/a	n/a
34	BACH1	chr21:17121462-17122162	H1-hESC	embryonic stem cell:	n/a	n/a
35	BACH1	chr21:17101944-17102020	K562	blood:	n/a	n/a
36	BACH1	chr21:17101870-17102591	H1-hESC	embryonic stem cell:	n/a	n/a
37	BACH1	chr21:17102868-17103144	H1-hESC	embryonic stem cell:	n/a	n/a
38	BACH1	chr21:17001048-17001064	K562	blood:	n/a	n/a
39	BATF	chr21:17104710-17104939	GM12878	blood:	n/a	n/a
40	BATF	chr21:17106117-17106300	GM12878	blood:	n/a	n/a
41	BATF	chr21:17106178-17106335	GM12878	blood:	n/a	n/a
42	BATF	chr21:17104694-17104952	GM12878	blood:	n/a	n/a
43	BCL11A	chr21:17125425-17125885	H1-hESC	embryonic stem cell:	n/a	n/a
44	BCL11A	chr21:17106121-17106394	GM12878	blood:	n/a	n/a
45	BCL11A	chr21:17125422-17125707	H1-hESC	embryonic stem cell:	n/a	n/a
46	BCL3	chr21:16997709-16997978	GM12878	blood:	n/a	n/a
47	BCL3	chr21:16997709-16998047	GM12878	blood:	n/a	n/a
48	BCLAF1	chr21:17102245-17102734	GM12878	blood:	n/a	chr21:17102588-17102596
49	BCLAF1	chr21:17102799-17103184	GM12878	blood:	n/a	n/a
50	BHLHE40	chr21:17102263-17102479	A549	lung:	n/a	chr21:17102442-17102458

(count:610 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:17101987-17102037	NT2-D1	testis:	n/a
2	chr21:17101917-17101967	Hepatocyte	liver:	n/a
3	chr21:17101987-17102037	GM19239	blood:	n/a
4	chr21:17102990-17103040	NHDF-neo	bronchial:	n/a
5	chr21:17101917-17101967	AoSMC	blood vessel:	n/a
6	chr21:17100366-17100416	T-47D	breast:	n/a
7	chr21:17101011-17101061	RPTEC	kidney:	n/a
8	chr21:17104741-17104791	AG09309	skin:	n/a
9	chr21:17102999-17103049	PANC-1	pancreas:	n/a
10	chr21:17102990-17103040	HAEpiC	amniotic membrane:	n/a
11	chr21:17101011-17101061	BE2_C	brain:	n/a
12	chr21:17104741-17104791	ProgFib	skin:	n/a
13	chr21:17101917-17101967	AG09319	gingival:	n/a
14	chr21:17098256-17098306	H1-hESC	embryonic stem cell:	embryo
15	chr21:17101917-17101967	SK-N-SH	brain:	n/a
16	chr21:17098256-17098306	GM12892	blood:	n/a
17	chr21:17102990-17103040	AG10803	skin:	n/a
18	chr21:17104741-17104791	PrEC	prostate:	n/a
19	chr21:17101011-17101061	A549	lung:	n/a
20	chr21:17101011-17101061	GM06990	blood:	n/a
21	chr21:17102999-17103049	HEEpiC	esophagus:	n/a
22	chr21:17102990-17103040	IMR90	lung:	fetal
23	chr21:17102764-17102814	AG04450	lung:	fetal
24	chr21:17102990-17103040	HUVEC	blood vessel:	n/a
25	chr21:17104741-17104791	HL-60	blood:	n/a
26	chr21:17102990-17103040	RPTEC	kidney:	n/a
27	chr21:17102999-17103049	HIPEpiC	eye:	n/a
28	chr21:17101917-17101967	HepG2	liver:	n/a
29	chr21:17101987-17102037	H1-hESC	embryonic stem cell:	embryo
30	chr21:17102990-17103040	AG09319	gingival:	n/a
31	chr21:17098256-17098306	ProgFib	skin:	n/a
32	chr21:17102990-17103040	HNPCEpiC	eye:	n/a
33	chr21:17106209-17106259	AG04450	lung:	fetal
34	chr21:17101917-17101967	MCF10A-Er-Src	breast:	n/a
35	chr21:17106209-17106259	SAEC	small airway:	n/a
36	chr21:17101987-17102037	HepG2	liver:	n/a
37	chr21:17106209-17106259	RPTEC	kidney:	n/a
38	chr21:17101987-17102037	Jurkat	blood:	n/a
39	chr21:17100366-17100416	U87	brain:	n/a
40	chr21:17102990-17103040	Hela-S3	cervix:	n/a
41	chr21:17100366-17100416	HEEpiC	esophagus:	n/a
42	chr21:17100366-17100416	GM12891	blood:	n/a
43	chr21:17098256-17098306	SKMC	muscle:	n/a
44	chr21:17101917-17101967	SAEC	small airway:	n/a
45	chr21:17101917-17101967	PFSK-1	brain:	n/a
46	chr21:17102999-17103049	SKMC	muscle:	n/a
47	chr21:17104741-17104791	ovcar-3	ovarian:	n/a
48	chr21:17101917-17101967	RPTEC	kidney:	n/a
49	chr21:17101987-17102037	HMEC	breast:	n/a
50	chr21:17098256-17098306	HRCEpiC	kidney:	n/a

(count:141 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr21:17015627..17017680-chr21:17022587..17025053,2	K562	blood:
2	chr21:17097568..17099854-chr21:17101138..17103471,3	K562	blood:
3	chr21:17127290..17130073-chr21:17133451..17135040,2	MCF-7	breast:
4	chr21:17101583..17104455-chr21:17117901..17120462,3	MCF-7	breast:
5	chr21:17141227..17143444-chr21:17164471..17166670,2	K562	blood:
6	chr21:17104010..17105531-chr21:17155055..17156862,2	K562	blood:
7	chr21:16580067..16580933-chr21:16958897..16959756,2	MCF-7	breast:
8	chr21:16959176..16959732-chr21:17011225..17011757,2	MCF-7	breast:
9	chr21:16582221..16583302-chr21:16958882..16959791,8	MCF-7	breast:
10	chr21:17110916..17112598-chr21:17143499..17145312,2	K562	blood:
11	chr21:17102586..17104212-chr21:17132608..17135141,2	K562	blood:
12	chr20:19188556..19189161-chr21:17092468..17093033,2	MCF-7	breast:
13	chr21:16985973..16987583-chr21:16990550..16993331,2	MCF-7	breast:
14	chr21:17126721..17128269-chr21:17130491..17133281,2	MCF-7	breast:
15	chr21:17135749..17138458-chr21:17138787..17142045,4	K562	blood:
16	chr21:17127290..17130073-chr21:17133451..17135040,2	MCF-7	breast:
17	chr21:17052353..17053898-chr21:17054615..17056835,2	K562	blood:
18	chr21:17087926..17089918-chr21:17092657..17095382,2	K562	blood:
19	chr21:16504869..16505637-chr21:16958997..16959745,3	MCF-7	breast:
20	chr21:17079550..17081634-chr21:17101174..17103507,3	MCF-7	breast:
21	chr21:16545059..16545679-chr21:16959234..16959876,3	MCF-7	breast:
22	chr21:17102017..17104012-chr21:17109243..17111259,3	MCF-7	breast:
23	chr21:17103751..17105716-chr21:17107281..17109325,2	MCF-7	breast:
24	chr21:17027863..17030532-chr21:17032881..17035751,2	K562	blood:
25	chr21:16919441..16920015-chr21:16959232..16959755,2	MCF-7	breast:
26	chr21:17131546..17134772-chr21:17136356..17138734,3	MCF-7	breast:
27	chr21:16377414..16378279-chr21:16958983..16959803,3	MCF-7	breast:
28	chr1:28907941..28908781-chr21:17101990..17102822,2	Hela-S3	cervix:
29	chr21:17123698..17126562-chr21:17142609..17145221,2	MCF-7	breast:
30	chr21:16959176..16959732-chr21:17011225..17011757,2	MCF-7	breast:
31	chr21:16504814..16505341-chr21:16958945..16959492,2	MCF-7	breast:
32	chr21:17102136..17104047-chr21:17126942..17128676,2	K562	blood:
33	chr21:16545107..16545924-chr21:16958930..16959783,5	MCF-7	breast:
34	chr21:17077309..17079464-chr21:17110319..17112790,2	K562	blood:
35	chr21:16714657..16715579-chr21:16959040..16959762,3	MCF-7	breast:
36	chr21:17100962..17103706-chr21:17140698..17142890,2	MCF-7	breast:
37	chr21:16582189..16583291-chr21:16958890..16959931,32	MCF-7	breast:
38	chr21:17135749..17138458-chr21:17138787..17141062,2	K562	blood:
39	chr21:17102350..17105296-chr21:17124464..17127138,3	MCF-7	breast:
40	chr21:17015627..17017680-chr21:17022587..17025053,2	K562	blood:
41	chr21:17102586..17104212-chr21:17132608..17135141,2	K562	blood:
42	chr21:16571579..16572982-chr21:16958893..16959825,7	MCF-7	breast:
43	chr21:17123698..17126562-chr21:17142609..17145221,2	MCF-7	breast:
44	chr21:16582204..16583291-chr21:16958900..16960163,20	MCF-7	breast:
45	chr21:17064242..17066910-chr21:17102295..17103877,2	K562	blood:
46	chr21:17027863..17030532-chr21:17032881..17035751,2	K562	blood:
47	chr21:17101896..17103762-chr21:17124530..17127504,2	MCF-7	breast:
48	chr21:17102020..17103667-chr21:17103702..17105250,2	K562	blood:
49	chr21:17076130..17076863-chr4:168171748..168172510,2	MCF-7	breast:
50	chr21:16377371..16378318-chr21:16958890..16959802,6	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NRIP1-10	chr21:17117211-17117399	NONHSAT081212
2	lnc-NRIP1-7	chr21:16999365-16999459	NONHSAT081206
3	lnc-NRIP1-9	chr21:17109812-17109878	NONHSAT081208
4	lnc-NRIP1-8	chr21:17066619-17067073	NONHSAT081210
5	lnc-NRIP1-9	chr21:17048709-17048960	NONHSAT081208
6	lnc-NRIP1-8	chr21:17068204-17068900	NONHSAT081210
7	lnc-NRIP1-10	chr21:17116323-17116635	NONHSAT081212
8	lnc-NRIP1-9	chr21:17049870-17049987	NONHSAT081208

No data

Variant related genes	Relation type
USP25	TF binding region
ENSG00000221497	TF binding region
RNU6-1326P	TF binding region
RBPMSLP	TF binding region
ENSG00000238591	TF binding region
RAD23BLP	TF binding region
USP25	CpG island
ENSG00000221497	CpG island
RNU6-1326P	CpG island
RBPMSLP	CpG island
ENSG00000238591	CpG island
RAD23BLP	CpG island
ENSG00000238591	chromatin interactions
ENSG00000239705	chromatin interactions
ENSG00000203950	chromatin interactions
ENSG00000212564	chromatin interactions
ENSG00000132286	chromatin interactions
ENSG00000155313	chromatin interactions
ENSG00000221497	chromatin interactions
ENSG00000044574	chromatin interactions
ENSG00000132254	chromatin interactions
ENSG00000265264	chromatin interactions
ENSG00000234159	chromatin interactions
ENSG00000201699	chromatin interactions
ENSG00000085733	chromatin interactions
ENSG00000197956	chromatin interactions
ENSG00000197989	chromatin interactions

Extended variants
information (count: 7149 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:7149 , 50 per page) page: 1 2 3 4 5 6 7 ... 143

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141809695	chr21:16958210-16958211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs79130213	chr21:16958228-16958229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs13052214	chr21:16958251-16958252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs563176731	chr21:16958285-16958286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs147113593	chr21:16958321-16958322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs554991312	chr21:16958339-16958340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs80167590	chr21:16958345-16958346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs75546512	chr21:16958361-16958362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs183318318	chr21:16958369-16958370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs148177999	chr21:16958371-16958372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs561600679	chr21:16958383-16958384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs530448110	chr21:16958408-16958409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs546914727	chr21:16958446-16958447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs570306064	chr21:16958447-16958448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs2037992	chr21:16958458-16958459	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs2037993	chr21:16958485-16958486	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs5842540	chr21:16958517-16958518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs186950133	chr21:16958545-16958546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs191420162	chr21:16958582-16958583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs141831973	chr21:16958603-16958604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs567997053	chr21:16958614-16958615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs73892673	chr21:16958637-16958638	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs184787564	chr21:16958663-16958664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs2037994	chr21:16958670-16958671	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs545690068	chr21:16958742-16958743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs189683956	chr21:16958752-16958753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs572471179	chr21:16958755-16958756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs541396597	chr21:16958757-16958758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs568717395	chr21:16958789-16958790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs537855537	chr21:16958864-16958865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs12481771	chr21:16958897-16958898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs577784624	chr21:16958913-16958914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs150200356	chr21:16958953-16958954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs138776373	chr21:16958967-16958968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs563978380	chr21:16958973-16958974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs532703225	chr21:16958986-16958987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs192932062	chr21:16959007-16959008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs185167843	chr21:16959009-16959010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs540412188	chr21:16959030-16959031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs149381054	chr21:16959080-16959081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs553732090	chr21:16959096-16959097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs536652273	chr21:16959109-16959110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs556796973	chr21:16959157-16959158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs570429463	chr21:16959191-16959192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs539592583	chr21:16959206-16959207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs74370202	chr21:16959219-16959220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs572489373	chr21:16959228-16959229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs73343605	chr21:16959240-16959241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs573784394	chr21:16959249-16959250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs116832128	chr21:16959251-16959252	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Down syndrome	17412756	CNVD
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell lymphomas	19863542	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
Acute lymphoblastic leukemia	21980252	CNVD
Metanephric adenoma	20802469	CNVD
Neuroblastoma	18923191	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute myeloid leukemia	21251322	CNVD
abnormal development	18461090	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Alzheimer''s disease	18923514	CNVD
Alzheimer''s disease	20877625	CNVD
Follicular lymphoma	20505157	CNVD
Alzheimer''s disease	21956041	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Invasive pancreatic ductal carcinoma	16982739	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
Epilepsy	20502679	CNVD
22q11.2 microdeletion syndrome	19750312	CNVD
Breast cancer	20409316	CNVD
Autism	20841430	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:2819 , 50 per page) page: 1 2 3 4 5 6 7 ... 57

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16958200-16960800	Enhancers	Fetal Intestine Small	intestine
2	chr21:16958200-16961000	Enhancers	Fetal Intestine Large	intestine
3	chr21:16958800-16959400	Enhancers	Placenta Amnion	Placenta Amnion
4	chr21:16959000-16959800	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr21:16959400-16960000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr21:16959400-16960000	Enhancers	Placenta	Placenta
7	chr21:16960000-16961000	Weak transcription	Placenta	Placenta
8	chr21:16960600-16961400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr21:16961000-16961200	Enhancers	Placenta	Placenta
10	chr21:16961000-16963400	Weak transcription	Fetal Intestine Large	intestine
11	chr21:16961600-16961800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr21:16961600-16961800	Enhancers	Colon Smooth Muscle	Colon
13	chr21:16963400-16964600	Enhancers	Fetal Intestine Large	intestine
14	chr21:16963600-16964000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr21:16964800-16965600	Enhancers	A549	lung
16	chr21:16973200-16976200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr21:16975800-16977800	Enhancers	Fetal Heart	heart
18	chr21:16976200-16977000	Enhancers	H1 Cell Line	embryonic stem cell
19	chr21:16976200-16977000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr21:16976200-16977000	Enhancers	H9 Cell Line	embryonic stem cell
21	chr21:16976200-16977000	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr21:16976200-16977200	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr21:16976200-16977200	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr21:16976200-16977400	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr21:16976200-16977400	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr21:16976200-16977600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr21:16976200-16977800	Enhancers	Fetal Muscle Leg	muscle
28	chr21:16976200-16977800	Enhancers	Placenta	Placenta
29	chr21:16976200-16977800	Enhancers	HSMM	muscle
30	chr21:16976200-16977800	Enhancers	HSMMtube	muscle
31	chr21:16976200-16978000	Enhancers	Hela-S3	cervix
32	chr21:16976400-16976800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
33	chr21:16976400-16977000	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr21:16976400-16977000	Enhancers	HUVEC	blood vessel
35	chr21:16976400-16977400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr21:16976400-16977400	Enhancers	Muscle Satellite Cultured Cells	--
37	chr21:16976400-16977800	Enhancers	HMEC	breast
38	chr21:16976600-16976800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr21:16976600-16977200	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr21:16976600-16977400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr21:16976800-16977400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr21:16976800-16977600	Enhancers	NHEK	skin
43	chr21:16977000-16977400	Enhancers	A549	lung
44	chr21:16977000-16977800	Enhancers	Placenta Amnion	Placenta Amnion
45	chr21:16977600-16990400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr21:16977800-16979600	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr21:16979600-16979800	Enhancers	Placenta Amnion	Placenta Amnion
48	chr21:16985800-16986000	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr21:16987600-16987800	Enhancers	HSMMtube	muscle
50	chr21:16989000-16991200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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