Variant report

Variant	nsv1062589
Chromosome Location	chr21:48021655-48050534
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:157)
CpG islands
(count:612)
Chromatin interactive
region (count:28)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:157 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr21:48028361-48029224	GM12878	blood:	n/a	n/a
2	BATF	chr21:48028473-48028947	GM12878	blood:	n/a	n/a
3	BATF	chr21:48028436-48029053	GM12878	blood:	n/a	n/a
4	BCLAF1	chr21:48028466-48029094	GM12878	blood:	n/a	n/a
5	BCLAF1	chr21:48025984-48026402	GM12878	blood:	n/a	n/a
6	CEBPB	chr21:48047791-48047968	K562	blood:	n/a	n/a
7	CEBPB	chr21:48047658-48048067	K562	blood:	n/a	n/a
8	CTCF	chr21:48028977-48029064	GM10266	blood:	n/a	n/a
9	CTCF	chr21:48046860-48047010	HepG2	liver:	n/a	n/a
10	CTCF	chr21:48046900-48047050	HepG2	liver:	n/a	n/a
11	CTCF	chr21:48028993-48029068	GM12878	blood:	n/a	n/a
12	CTCF	chr21:48028820-48028970	GM12873	blood:	n/a	n/a
13	CTCF	chr21:48028680-48028830	GM12864	blood:	n/a	n/a
14	EBF1	chr21:48025973-48026546	GM12878	blood:	n/a	n/a
15	EBF1	chr21:48042233-48042490	GM12878	blood:	n/a	n/a
16	EBF1	chr21:48026020-48026423	GM12878	blood:	n/a	n/a
17	EGR1	chr21:48024963-48025225	K562	blood:	n/a	chr21:48025215-48025224 chr21:48025099-48025108 chr21:48025096-48025109
18	EGR1	chr21:48039894-48040150	K562	blood:	n/a	n/a
19	EGR1	chr21:48039897-48040129	K562	blood:	n/a	n/a
20	EGR1	chr21:48024950-48025231	K562	blood:	n/a	chr21:48025215-48025224 chr21:48025099-48025108 chr21:48025096-48025109
21	EGR1	chr21:48024900-48025237	H1-hESC	embryonic stem cell:	n/a	chr21:48025215-48025224 chr21:48025099-48025108 chr21:48025096-48025109
22	EGR1	chr21:48024866-48025287	ECC-1	luminal epithelium:	n/a	chr21:48025215-48025224 chr21:48025099-48025108 chr21:48025096-48025109
23	ELF1	chr21:48024860-48025163	GM12878	blood:	n/a	n/a
24	ELF1	chr21:48042102-48042464	GM12878	blood:	n/a	chr21:48042242-48042254
25	ELF1	chr21:48026001-48026710	GM12878	blood:	n/a	chr21:48026169-48026182
26	ELF1	chr21:48042126-48042552	HepG2	liver:	n/a	chr21:48042242-48042254 chr21:48042469-48042480
27	ELF1	chr21:48042131-48042533	HepG2	liver:	n/a	chr21:48042242-48042254 chr21:48042469-48042480
28	ELF1	chr21:48025991-48026352	K562	blood:	n/a	chr21:48026169-48026182
29	ELF1	chr21:48042112-48042422	GM12878	blood:	n/a	chr21:48042242-48042254
30	EP300	chr21:48041378-48041856	HepG2	liver:	n/a	n/a
31	EP300	chr21:48041959-48042528	HepG2	liver:	n/a	chr21:48042360-48042369 chr21:48042510-48042524 chr21:48042272-48042282 chr21:48042471-48042480
32	EP300	chr21:48041999-48042536	HepG2	liver:	n/a	chr21:48042360-48042369 chr21:48042510-48042524 chr21:48042272-48042282 chr21:48042471-48042480
33	ETS1	chr21:48042220-48042524	GM12878	blood:	n/a	chr21:48042473-48042484 chr21:48042473-48042480 chr21:48042471-48042484 chr21:48042248-48042259 chr21:48042472-48042486
34	FOSL2	chr21:48030158-48030679	SK-N-SH	brain:	n/a	n/a
35	FOXA1	chr21:48042127-48042466	HepG2	liver:	n/a	n/a
36	FOXA1	chr21:48046825-48047200	HepG2	liver:	n/a	n/a
37	FOXA1	chr21:48046832-48047278	HepG2	liver:	n/a	n/a
38	FOXA1	chr21:48041953-48042509	HepG2	liver:	n/a	n/a
39	FOXA2	chr21:48046839-48047157	HepG2	liver:	n/a	n/a
40	FOXA2	chr21:48021843-48022079	HepG2	liver:	n/a	n/a
41	FOXA2	chr21:48042133-48042479	HepG2	liver:	n/a	n/a
42	FOXM1	chr21:48028324-48029218	GM12878	blood:	n/a	n/a
43	FOXP2	chr21:48025023-48025439	SK-N-MC	brain:	n/a	n/a
44	GATA2	chr21:48047660-48047900	K562	blood:	n/a	n/a
45	HDAC2	chr21:48042048-48042474	HepG2	liver:	n/a	n/a
46	HDAC2	chr21:48041309-48041699	HepG2	liver:	n/a	n/a
47	HEY1	chr21:48042291-48042526	HepG2	liver:	n/a	n/a
48	HEY1	chr21:48041377-48041716	HepG2	liver:	n/a	n/a
49	HNF4A	chr21:48041991-48042461	HepG2	liver:	n/a	chr21:48042196-48042211 chr21:48042197-48042209 chr21:48042195-48042210
50	HNF4A	chr21:48042002-48042452	HepG2	liver:	n/a	chr21:48042196-48042211 chr21:48042197-48042209 chr21:48042195-48042210

(count:612 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:48026043-48026093	U87	brain:	n/a
2	chr21:48025155-48025205	HEK293	kidney:	embryo
3	chr21:48026043-48026093	U87	brain:	n/a
4	chr21:48025155-48025205	HEK293	kidney:	embryo
5	chr21:48026043-48026093	CMK	blood:	n/a
6	chr21:48025155-48025205	NT2-D1	testis:	n/a
7	chr21:48025691-48025741	HEK293	kidney:	embryo
8	chr21:48025155-48025205	Caco-2	colon:	n/a
9	chr21:48026181-48026231	RPTEC	kidney:	n/a
10	chr21:48026181-48026231	SK-N-SH_RA	brain:	n/a
11	chr21:48024683-48024733	NH-A	brain:	n/a
12	chr21:48026298-48026348	ProgFib	skin:	n/a
13	chr21:48021941-48021991	SK-N-SH	brain:	n/a
14	chr21:48025155-48025205	PANC-1	pancreas:	n/a
15	chr21:48022339-48022389	H1-hESC	embryonic stem cell:	embryo
16	chr21:48026298-48026348	HCT-116	colon:	n/a
17	chr21:48021941-48021991	AG04449	skin:	fetal
18	chr21:48024639-48024689	MCF-7	breast:	n/a
19	chr21:48025155-48025205	HRPEpiC	eye:	n/a
20	chr21:48026043-48026093	ovcar-3	ovarian:	n/a
21	chr21:48025691-48025741	HL-60	blood:	n/a
22	chr21:48025155-48025205	ProgFib	skin:	n/a
23	chr21:48024639-48024689	AoSMC	blood vessel:	n/a
24	chr21:48026043-48026093	HRPEpiC	eye:	n/a
25	chr21:48021941-48021991	GM12891	blood:	n/a
26	chr21:48026181-48026231	AG04449	skin:	fetal
27	chr21:48024683-48024733	RPTEC	kidney:	n/a
28	chr21:48025155-48025205	GM19239	blood:	n/a
29	chr21:48022339-48022389	SK-N-MC	brain:	n/a
30	chr21:48022339-48022389	HCT-116	colon:	n/a
31	chr21:48024639-48024689	NHDF-neo	bronchial:	n/a
32	chr21:48022339-48022389	CMK	blood:	n/a
33	chr21:48022339-48022389	PANC-1	pancreas:	n/a
34	chr21:48021941-48021991	NH-A	brain:	n/a
35	chr21:48025100-48025150	HUVEC	blood vessel:	n/a
36	chr21:48024639-48024689	CMK	blood:	n/a
37	chr21:48025100-48025150	GM12891	blood:	n/a
38	chr21:48026298-48026348	GM12891	blood:	n/a
39	chr21:48025155-48025205	NH-A	brain:	n/a
40	chr21:48025100-48025150	AoSMC	blood vessel:	n/a
41	chr21:48025691-48025741	GM19239	blood:	n/a
42	chr21:48021941-48021991	Hepatocyte	liver:	n/a
43	chr21:48025691-48025741	GM12878	blood:	n/a
44	chr21:48021941-48021991	HEEpiC	esophagus:	n/a
45	chr21:48026043-48026093	Jurkat	blood:	n/a
46	chr21:48024683-48024733	HL-60	blood:	n/a
47	chr21:48025100-48025150	SKMC	muscle:	n/a
48	chr21:48024683-48024733	ovcar-3	ovarian:	n/a
49	chr21:48022339-48022389	PFSK-1	brain:	n/a
50	chr21:48026298-48026348	BE2_C	brain:	n/a

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:48027694..48030453-chr21:48039157..48041006,2	MCF-7	breast:
2	chr21:48044480..48047952-chr21:48055875..48058667,3	MCF-7	breast:
3	chr21:48044131..48047004-chr21:48048003..48050751,2	MCF-7	breast:
4	chr21:48025603..48028303-chr21:48029330..48031658,3	MCF-7	breast:
5	chr21:48043420..48045155-chr21:48055192..48058063,2	K562	blood:
6	chr21:48044131..48047004-chr21:48048003..48050751,2	MCF-7	breast:
7	chr21:48028979..48030812-chr21:48051870..48054019,2	K562	blood:
8	chr21:48025522..48028149-chr21:48060514..48063166,2	MCF-7	breast:
9	chr21:48048775..48050687-chr21:48053494..48055105,2	MCF-7	breast:
10	chr21:47980753..47982887-chr21:48026648..48028879,2	MCF-7	breast:
11	chr21:48048002..48052146-chr21:48052427..48057052,6	K562	blood:
12	chr21:48010670..48012334-chr21:48047542..48049804,2	K562	blood:
13	chr21:48042730..48044237-chr21:48044461..48046707,2	K562	blood:
14	chr21:48021498..48023722-chr21:48025363..48027869,3	K562	blood:
15	chr21:48027694..48030453-chr21:48039157..48041006,2	MCF-7	breast:
16	chr21:48045325..48047440-chr21:48054807..48056877,2	K562	blood:
17	chr21:48031009..48033882-chr21:48053845..48056552,2	MCF-7	breast:
18	chr21:48043562..48050060-chr21:48053506..48056859,7	MCF-7	breast:
19	chr21:48021540..48023901-chr21:48055495..48057109,2	MCF-7	breast:
20	chr21:48016127..48018173-chr21:48020936..48022713,2	K562	blood:
21	chr21:48024575..48027546-chr21:48055306..48056858,2	K562	blood:
22	chr21:48017941..48023722-chr21:48025363..48028133,5	K562	blood:
23	chr21:48016422..48019126-chr21:48030129..48032645,2	K562	blood:
24	chr21:48023339..48026982-chr21:48053855..48056881,6	MCF-7	breast:
25	chr21:48042730..48044237-chr21:48044461..48046707,2	K562	blood:
26	chr21:48043406..48045723-chr21:48050633..48054621,3	K562	blood:
27	chr21:48025603..48028303-chr21:48029330..48031658,3	MCF-7	breast:
28	chr21:48017805..48022026-chr21:48053687..48056894,4	K562	blood:

No data

Variant related genes	Relation type
PRMT2	TF binding region
S100B	TF binding region
PRMT2	CpG island
S100B	CpG island
ENSG00000160305	chromatin interactions
ENSG00000160307	chromatin interactions
ENSG00000160310	chromatin interactions

Extended variants
information (count: 1116 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:1116 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9984765	chr21:48021655-48021656	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs561043419	chr21:48021669-48021670	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs533697843	chr21:48021705-48021706	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs73907533	chr21:48021717-48021718	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs548028411	chr21:48021831-48021832	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs576656631	chr21:48021860-48021861	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs181407331	chr21:48021878-48021879	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs368174663	chr21:48021905-48021906	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs187501203	chr21:48021921-48021922	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs545566019	chr21:48021924-48021925	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs146339780	chr21:48021941-48021942	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs34722617	chr21:48021967-48021968	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs191792000	chr21:48021980-48021981	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs2839355	chr21:48022033-48022034	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs139572774	chr21:48022048-48022049	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs182879640	chr21:48022100-48022101	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs2839356	chr21:48022144-48022145	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs80199493	chr21:48022175-48022176	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs1051169	chr21:48022230-48022231	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs564547722	chr21:48022236-48022237	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs376799186	chr21:48022261-48022262	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs11542309	chr21:48022284-48022285	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs368589237	chr21:48022290-48022291	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs563644968	chr21:48022294-48022295	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs558674156	chr21:48022299-48022300	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs372056269	chr21:48022303-48022304	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs375166815	chr21:48022307-48022308	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs111577365	chr21:48022332-48022333	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs575081669	chr21:48022336-48022337	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs369392316	chr21:48022339-48022340	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs185912351	chr21:48022340-48022341	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs190425982	chr21:48022342-48022343	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs375156323	chr21:48022354-48022355	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs2186358	chr21:48022375-48022376	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs528218248	chr21:48022381-48022382	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs368663156	chr21:48022388-48022389	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs546748019	chr21:48022391-48022392	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs559971319	chr21:48022406-48022407	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs28559645	chr21:48022412-48022413	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs551783543	chr21:48022424-48022425	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs570333000	chr21:48022432-48022433	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs570372433	chr21:48022471-48022472	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs530777956	chr21:48022482-48022483	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs11911834	chr21:48022521-48022522	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs77333632	chr21:48022526-48022527	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs534776675	chr21:48022536-48022537	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs553090366	chr21:48022546-48022547	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs377595047	chr21:48022558-48022559	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs35274535	chr21:48022619-48022620	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs571103467	chr21:48022675-48022676	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	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:590 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:48018000-48022200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr21:48018000-48024600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr21:48018000-48025000	Weak transcription	Spleen	Spleen
4	chr21:48018600-48022200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr21:48018600-48022600	Genic enhancers	Cortex derived primary cultured neurospheres	brain
6	chr21:48018600-48022800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr21:48018600-48023200	Enhancers	K562	blood
8	chr21:48018800-48024600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr21:48019200-48022200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr21:48019200-48024400	Weak transcription	Right Atrium	heart
11	chr21:48019400-48022200	Weak transcription	Placenta	Placenta
12	chr21:48019400-48022600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
13	chr21:48019400-48022600	Weak transcription	Fetal Stomach	stomach
14	chr21:48019400-48023800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr21:48019400-48024400	Weak transcription	Fetal Thymus	thymus
16	chr21:48019400-48024800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr21:48019400-48024800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr21:48019600-48022400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr21:48019600-48024600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr21:48019800-48022600	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr21:48019800-48022600	Weak transcription	HSMMtube	muscle
22	chr21:48019800-48024600	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr21:48019800-48024800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr21:48019800-48025000	Weak transcription	Fetal Brain Male	brain
25	chr21:48019800-48025800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr21:48020000-48023800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr21:48020000-48024400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr21:48020000-48024800	Weak transcription	Osteobl	bone
29	chr21:48020200-48023400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr21:48020400-48024000	Weak transcription	Primary T cells from cord blood	blood
31	chr21:48020600-48024400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr21:48020800-48021800	Enhancers	Primary T cells fromperipheralblood	blood
33	chr21:48020800-48022000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr21:48020800-48022200	Enhancers	Gastric	stomach
35	chr21:48020800-48022600	Transcr. at gene 5' and 3'	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr21:48020800-48022800	Transcr. at gene 5' and 3'	Brain Cingulate Gyrus	brain
37	chr21:48020800-48022800	Enhancers	Stomach Mucosa	stomach
38	chr21:48021000-48022600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr21:48021000-48022600	Transcr. at gene 5' and 3'	Brain Inferior Temporal Lobe	brain
40	chr21:48021000-48022800	Enhancers	Ovary	ovary
41	chr21:48021200-48021800	Genic enhancers	Brain Anterior Caudate	brain
42	chr21:48021200-48022200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr21:48021200-48022200	Weak transcription	Fetal Muscle Leg	muscle
44	chr21:48021200-48022800	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr21:48021200-48024400	Weak transcription	Adipose Nuclei	Adipose
46	chr21:48021200-48024600	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr21:48021400-48022000	Enhancers	Brain Angular Gyrus	brain
48	chr21:48021400-48022400	Enhancers	Pancreas	Pancrea
49	chr21:48021400-48022600	Flanking Active TSS	Brain Substantia Nigra	brain
50	chr21:48021400-48022800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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