Variant report

Variant	esv3439352
Chromosome Location	chr21:40719607-40722455
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:790)
CpG islands
(count:550)
Chromatin interactive
region (count:38)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:790 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr21:40719412-40719807	K562	blood:	n/a	n/a
2	ARID3A	chr21:40721276-40721854	K562	blood:	n/a	n/a
3	ARID3A	chr21:40721339-40721821	HepG2	liver:	n/a	n/a
4	ARID3A	chr21:40719952-40720347	HepG2	liver:	n/a	n/a
5	ATF1	chr21:40721209-40721794	K562	blood:	n/a	n/a
6	ATF2	chr21:40721379-40721845	GM12878	blood:	n/a	n/a
7	ATF2	chr21:40720277-40720595	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF3	chr21:40721234-40721752	GM12878	blood:	n/a	chr21:40721339-40721359
9	ATF3	chr21:40721208-40721584	H1-hESC	embryonic stem cell:	n/a	chr21:40721339-40721359
10	ATF3	chr21:40721217-40721744	K562	blood:	n/a	chr21:40721339-40721359
11	BACH1	chr21:40720877-40721041	K562	blood:	n/a	n/a
12	BACH1	chr21:40720334-40721954	H1-hESC	embryonic stem cell:	n/a	n/a
13	BCLAF1	chr21:40720130-40720651	GM12878	blood:	n/a	n/a
14	BCLAF1	chr21:40721488-40722037	GM12878	blood:	n/a	n/a
15	BHLHE40	chr21:40720630-40721033	HepG2	liver:	n/a	n/a
16	BHLHE40	chr21:40720382-40721742	GM12878	blood:	n/a	n/a
17	BHLHE40	chr21:40721242-40721608	HepG2	liver:	n/a	n/a
18	BHLHE40	chr21:40720268-40722040	K562	blood:	n/a	n/a
19	BRCA1	chr21:40721216-40721689	GM12878	blood:	n/a	n/a
20	BRCA1	chr21:40720409-40720764	Hela-S3	cervix:	n/a	n/a
21	BRCA1	chr21:40720252-40720689	GM12878	blood:	n/a	n/a
22	BRCA1	chr21:40720432-40720702	HepG2	liver:	n/a	n/a
23	BRCA1	chr21:40721294-40721494	H1-hESC	embryonic stem cell:	n/a	n/a
24	BRCA1	chr21:40721121-40721667	Hela-S3	cervix:	n/a	n/a
25	CBX3	chr21:40721281-40721873	K562	blood:	n/a	n/a
26	CBX3	chr21:40721197-40721946	K562	blood:	n/a	n/a
27	CCNT2	chr21:40720311-40721747	K562	blood:	n/a	chr21:40721170-40721179
28	CEBPB	chr21:40719520-40719877	K562	blood:	n/a	n/a
29	CEBPB	chr21:40721353-40721820	K562	blood:	n/a	n/a
30	CEBPD	chr21:40720681-40721926	K562	blood:	n/a	n/a
31	CEBPD	chr21:40720482-40721772	HepG2	liver:	n/a	n/a
32	CEBPD	chr21:40720796-40721075	HepG2	liver:	n/a	n/a
33	CHD1	chr21:40721439-40721947	GM12878	blood:	n/a	n/a
34	CHD1	chr21:40722315-40722581	GM12878	blood:	n/a	n/a
35	CHD1	chr21:40719934-40720638	GM12878	blood:	n/a	n/a
36	CHD1	chr21:40720699-40720930	H1-hESC	embryonic stem cell:	n/a	n/a
37	CHD1	chr21:40721400-40721569	H1-hESC	embryonic stem cell:	n/a	n/a
38	CHD1	chr21:40719664-40720447	H1-hESC	embryonic stem cell:	n/a	n/a
39	CHD2	chr21:40719496-40719824	GM12878	blood:	n/a	n/a
40	CHD2	chr21:40722332-40722450	GM12878	blood:	n/a	n/a
41	CHD2	chr21:40720427-40721782	H1-hESC	embryonic stem cell:	n/a	n/a
42	CHD2	chr21:40720173-40721958	Hela-S3	cervix:	n/a	n/a
43	CHD2	chr21:40720408-40721714	HepG2	liver:	n/a	n/a
44	CHD2	chr21:40719603-40719865	K562	blood:	n/a	n/a
45	CHD2	chr21:40720469-40721969	K562	blood:	n/a	n/a
46	CHD2	chr21:40720148-40721996	GM12878	blood:	n/a	n/a
47	CHD2	chr21:40719639-40719980	H1-hESC	embryonic stem cell:	n/a	n/a
48	CREB1	chr21:40721197-40721839	A549	lung:	n/a	n/a
49	CREB1	chr21:40720203-40721940	HepG2	liver:	n/a	n/a
50	CREB1	chr21:40721460-40721651	A549	lung:	n/a	n/a

(count:550 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:40720186-40720236	AG04450	lung:	fetal
2	chr21:40720186-40720236	AG04450	lung:	fetal
3	chr21:40720919-40720969	PANC-1	pancreas:	n/a
4	chr21:40720186-40720236	HepG2	liver:	n/a
5	chr21:40721426-40721476	HL-60	blood:	n/a
6	chr21:40722023-40722073	U87	brain:	n/a
7	chr21:40721020-40721070	A549	lung:	n/a
8	chr21:40721356-40721406	ECC-1	luminal epithelium:	n/a
9	chr21:40722023-40722073	GM12891	blood:	n/a
10	chr21:40720916-40720966	GM19239	blood:	n/a
11	chr21:40720919-40720969	AG04449	skin:	fetal
12	chr21:40721426-40721476	MCF-7	breast:	n/a
13	chr21:40721130-40721180	RPTEC	kidney:	n/a
14	chr21:40721426-40721476	ECC-1	luminal epithelium:	n/a
15	chr21:40722023-40722073	HAEpiC	amniotic membrane:	n/a
16	chr21:40721343-40721393	Caco-2	colon:	n/a
17	chr21:40720916-40720966	Caco-2	colon:	n/a
18	chr21:40720916-40720966	ProgFib	skin:	n/a
19	chr21:40722023-40722073	PANC-1	pancreas:	n/a
20	chr21:40720916-40720966	T-47D	breast:	n/a
21	chr21:40720919-40720969	CMK	blood:	n/a
22	chr21:40721356-40721406	NB4	blood:	n/a
23	chr21:40721426-40721476	GM12878	blood:	n/a
24	chr21:40721020-40721070	ovcar-3	ovarian:	n/a
25	chr21:40720916-40720966	HEEpiC	esophagus:	n/a
26	chr21:40720186-40720236	HCM	heart:	n/a
27	chr21:40720919-40720969	Caco-2	colon:	n/a
28	chr21:40721020-40721070	PFSK-1	brain:	n/a
29	chr21:40721130-40721180	GM12892	blood:	n/a
30	chr21:40720919-40720969	ovcar-3	ovarian:	n/a
31	chr21:40721020-40721070	GM19239	blood:	n/a
32	chr21:40721020-40721070	BE2_C	brain:	n/a
33	chr21:40721356-40721406	AoSMC	blood vessel:	n/a
34	chr21:40720919-40720969	NH-A	brain:	n/a
35	chr21:40720186-40720236	AG10803	skin:	n/a
36	chr21:40721356-40721406	Hepatocyte	liver:	n/a
37	chr21:40720186-40720236	RPTEC	kidney:	n/a
38	chr21:40721130-40721180	NHDF-neo	bronchial:	n/a
39	chr21:40721426-40721476	HCPEpiC	choroid plexus:	n/a
40	chr21:40720919-40720969	BJ	skin:	n/a
41	chr21:40721130-40721180	U87	brain:	n/a
42	chr21:40721343-40721393	BE2_C	brain:	n/a
43	chr21:40720916-40720966	NH-A	brain:	n/a
44	chr21:40721356-40721406	BJ	skin:	n/a
45	chr21:40721130-40721180	SAEC	small airway:	n/a
46	chr21:40721343-40721393	HEEpiC	esophagus:	n/a
47	chr21:40721426-40721476	GM06990	blood:	n/a
48	chr21:40720916-40720966	MCF-7	breast:	n/a
49	chr21:40721020-40721070	Caco-2	colon:	n/a
50	chr21:40721020-40721070	HCM	heart:	n/a

(count:38 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:40719359..40724848-chr21:40748806..40754741,7	MCF-7	breast:
2	chr21:40721779..40723568-chr21:40810701..40813342,2	MCF-7	breast:
3	chr21:40719979..40722729-chr21:40816056..40819504,5	MCF-7	breast:
4	chr11:14541657..14542383-chr21:40721262..40722122,2	NB4	blood:
5	chr21:40635414..40638745-chr21:40717382..40720310,3	K562	blood:
6	chr21:40720926..40721630-chr8:71581011..71581760,2	HCT-116	colon:
7	chr21:40650772..40652472-chr21:40721952..40724679,2	K562	blood:
8	chr21:40720444..40722867-chr21:40823306..40826080,2	MCF-7	breast:
9	chr21:40720623..40723017-chr21:40815562..40818761,4	K562	blood:
10	chr21:40719273..40720815-chr21:40782667..40784260,2	K562	blood:
11	chr21:40719238..40723494-chr21:40813785..40819496,7	MCF-7	breast:
12	chr21:40718950..40720909-chr8:144820152..144822605,2	MCF-7	breast:
13	chr21:40550592..40552295-chr21:40721972..40724130,2	K562	blood:
14	chr21:40719410..40723060-chr21:40814028..40819084,9	K562	blood:
15	chr17:18218249..18218926-chr21:40720746..40721547,2	NB4	blood:
16	chr21:40717665..40724454-chr21:40756191..40763334,22	MCF-7	breast:
17	chr2:102313663..102314554-chr21:40720533..40721109,2	Hela-S3	cervix:
18	chr21:40681596..40696529-chr21:40715399..40724266,46	K562	blood:
19	chr21:40554663..40558370-chr21:40719503..40722190,4	MCF-7	breast:
20	chr21:40651445..40653004-chr21:40721446..40723113,2	MCF-7	breast:
21	chr21:40717517..40723762-chr21:40756232..40761980,18	MCF-7	breast:
22	chr21:40716662..40723444-chr21:40748337..40754328,16	MCF-7	breast:
23	chr21:40719750..40724652-chr21:40748317..40754270,9	K562	blood:
24	chr21:40721702..40724513-chr21:40734759..40737368,2	K562	blood:
25	chr20:49347681..49350459-chr21:40719549..40721947,2	MCF-7	breast:
26	chr21:40716442..40724032-chr21:40756185..40762223,18	K562	blood:
27	chr14:24607940..24610732-chr21:40718347..40720759,2	MCF-7	breast:
28	chr21:40555099..40556872-chr21:40718336..40720047,2	MCF-7	breast:
29	chr12:57893868..57894739-chr21:40720155..40721007,2	MCF-7	breast:
30	chr21:40716961..40722807-chr21:40750720..40754894,10	K562	blood:
31	chr21:40553821..40557385-chr21:40719764..40724370,6	K562	blood:
32	chr21:40685861..40686376-chr21:40719745..40720551,2	MCF-7	breast:
33	chr21:40720519..40721044-chr5:154237706..154238615,2	Hela-S3	cervix:
34	chr21:40635630..40638349-chr21:40720638..40723544,2	MCF-7	breast:
35	chr21:40716079..40725440-chr21:40756737..40764615,26	K562	blood:
36	chr21:40650313..40652723-chr21:40719146..40721312,2	MCF-7	breast:
37	chr16:85043892..85046309-chr21:40720857..40722668,2	MCF-7	breast:
38	chr21:40719170..40722188-chr21:40780437..40783108,3	MCF-7	breast:

No data

Variant related genes	Relation type
HMGN1	TF binding region
ENSG00000238556	TF binding region
HMGN1	CpG island
ENSG00000238556	CpG island
ENSG00000185437	chromatin interactions
ENSG00000221947	chromatin interactions
ENSG00000157578	chromatin interactions
ENSG00000155508	chromatin interactions
ENSG00000256206	chromatin interactions
ENSG00000203499	chromatin interactions
ENSG00000100908	chromatin interactions
ENSG00000272991	chromatin interactions
ENSG00000166986	chromatin interactions
ENSG00000238141	chromatin interactions
ENSG00000227406	chromatin interactions
ENSG00000183527	chromatin interactions
ENSG00000177302	chromatin interactions
ENSG00000124171	chromatin interactions
ENSG00000255568	chromatin interactions
ENSG00000176994	chromatin interactions
ENSG00000259321	chromatin interactions
ENSG00000071054	chromatin interactions
ENSG00000147592	chromatin interactions
ENSG00000129084	chromatin interactions
ENSG00000185658	chromatin interactions
ENSG00000153786	chromatin interactions
ENSG00000182093	chromatin interactions

Extended variants
information (count: 165 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:165 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114311121	chr21:40719650-40719651	Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
2	rs546244557	chr21:40719653-40719654	Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
3	rs141031344	chr21:40719661-40719662	Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
4	rs572585540	chr21:40719676-40719677	Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
5	rs191333937	chr21:40719677-40719678	Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
6	rs182850960	chr21:40719679-40719680	Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
7	rs570863977	chr21:40719687-40719688	Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
8	rs371842866	chr21:40719688-40719689	Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
9	rs143231766	chr21:40719710-40719711	Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
10	rs145503211	chr21:40719711-40719712	Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
11	rs79444431	chr21:40719719-40719720	Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
12	rs143338363	chr21:40719738-40719739	Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
13	rs563434967	chr21:40719740-40719741	Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
14	rs532127086	chr21:40719750-40719751	Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
15	rs552223365	chr21:40719760-40719761	Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
16	rs557883652	chr21:40719772-40719773	Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
17	rs576109613	chr21:40719776-40719777	Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
18	rs34451214	chr21:40719787-40719788	Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
19	rs187448435	chr21:40719834-40719835	Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
20	rs115234795	chr21:40719843-40719844	Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
21	rs76439527	chr21:40719846-40719847	Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
22	rs7283505	chr21:40719871-40719872	Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
23	rs189891485	chr21:40719889-40719890	Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
24	rs143833903	chr21:40719898-40719899	Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
25	rs374948465	chr21:40719899-40719900	Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
26	rs183268849	chr21:40719937-40719938	Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
27	rs573823874	chr21:40719941-40719942	Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
28	rs570995455	chr21:40719952-40719953	Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
29	rs539552566	chr21:40719957-40719958	Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
30	rs148857046	chr21:40719959-40719960	Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
31	rs573314183	chr21:40719961-40719962	Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
32	rs373702326	chr21:40719971-40719972	Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
33	rs13050336	chr21:40719987-40719988	Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs535393079	chr21:40720004-40720005	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
35	rs554928612	chr21:40720024-40720025	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
36	rs559315128	chr21:40720037-40720038	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
37	rs574963642	chr21:40720070-40720071	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
38	rs143443959	chr21:40720077-40720078	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
39	rs543671089	chr21:40720090-40720091	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
40	rs192074963	chr21:40720098-40720099	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
41	rs563361195	chr21:40720104-40720105	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
42	rs184669262	chr21:40720134-40720135	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
43	rs188226922	chr21:40720136-40720137	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
44	rs559016356	chr21:40720157-40720158	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
45	rs377267462	chr21:40720181-40720182	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
46	rs370512687	chr21:40720204-40720205	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
47	rs547762697	chr21:40720250-40720251	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
48	rs368588344	chr21:40720259-40720260	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
49	rs201095754	chr21:40720261-40720262	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
50	rs139888239	chr21:40720262-40720263	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

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 myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Renal cell carcinoma	19461508	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Melanoma	18172304	CNVD
Autism	22958593	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Wilms tumour	21544195	CNVD
Ewing''s sarcoma	17952124	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute myeloid leukemia	16864856	CNVD
Mental retardation	21031080	CNVD
Polymicrogyria	21031080	CNVD
periventricular nodular heterotopia	21031080	CNVD
Myelodysplastic syndrome	21606161	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21858162	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17899364	CNVD
Down syndrome	20877625	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Prostate cancer	21147910	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD

Chromatin state (count:396 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40716200-40720000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr21:40716400-40720000	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr21:40716800-40719800	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr21:40717000-40720400	Transcr. at gene 5' and 3'	Dnd41	blood
5	chr21:40717200-40719800	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
6	chr21:40717200-40720000	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
7	chr21:40717200-40720200	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
8	chr21:40717400-40719800	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
9	chr21:40717400-40720200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr21:40717400-40720400	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
11	chr21:40717600-40720200	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr21:40717600-40720400	Transcr. at gene 5' and 3'	A549	lung
13	chr21:40717600-40720400	Transcr. at gene 5' and 3'	K562	blood
14	chr21:40717800-40720200	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr21:40718000-40721400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr21:40718200-40719800	Weak transcription	Spleen	Spleen
17	chr21:40718200-40720000	Transcr. at gene 5' and 3'	H1 Cell Line	embryonic stem cell
18	chr21:40718200-40720400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
19	chr21:40718400-40719800	Transcr. at gene 5' and 3'	NHEK	skin
20	chr21:40718400-40720000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr21:40718400-40720400	Active TSS	Right Atrium	heart
22	chr21:40718600-40719800	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
23	chr21:40718600-40720000	Transcr. at gene 5' and 3'	ES-I3 Cell Line	embryonic stem cell
24	chr21:40718800-40719800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr21:40718800-40720000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
26	chr21:40718800-40720200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr21:40718800-40720400	Flanking Active TSS	Primary hematopoietic stem cells	blood
28	chr21:40718800-40721400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr21:40718800-40721600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr21:40718800-40721600	Active TSS	Brain Germinal Matrix	brain
31	chr21:40718800-40721600	Active TSS	Fetal Stomach	stomach
32	chr21:40718800-40721800	Active TSS	Fetal Intestine Large	intestine
33	chr21:40718800-40721800	Active TSS	Fetal Intestine Small	intestine
34	chr21:40718800-40722000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr21:40718800-40722200	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr21:40718800-40722200	Active TSS	GM12878-XiMat	blood
37	chr21:40719000-40720400	Flanking Active TSS	Primary B cells from cord blood	blood
38	chr21:40719000-40721600	Active TSS	HMEC	breast
39	chr21:40719000-40722200	Active TSS	iPS-15b Cell Line	embryonic stem cell
40	chr21:40719000-40722400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr21:40719200-40719800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
42	chr21:40719200-40719800	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
43	chr21:40719200-40720000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr21:40719200-40720200	Flanking Active TSS	Primary T cells from cord blood	blood
45	chr21:40719200-40720400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr21:40719200-40722000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr21:40719200-40722000	Active TSS	Fetal Brain Female	brain
48	chr21:40719200-40722000	Active TSS	HSMM	muscle
49	chr21:40719200-40722000	Active TSS	HSMMtube	muscle
50	chr21:40719200-40722200	Active TSS	Fetal Kidney	kidney

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