Variant report

Variant	nsv1062021
Chromosome Location	chr21:48025794-48096945
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1213)
CpG islands
(count:2380)
Chromatin interactive
region (count:130)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1213 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

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	ATF2	chr21:48054800-48055606	GM12878	blood:	n/a	n/a
3	ATF3	chr21:48081183-48081378	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF3	chr21:48055269-48055747	A549	lung:	n/a	n/a
5	ATF3	chr21:48054937-48055231	K562	blood:	n/a	n/a
6	ATF3	chr21:48055226-48055739	K562	blood:	n/a	chr21:48055237-48055245 chr21:48055268-48055277
7	ATF3	chr21:48055257-48055907	A549	lung:	n/a	chr21:48055268-48055277
8	ATF3	chr21:48055269-48055855	K562	blood:	n/a	n/a
9	BATF	chr21:48058236-48058618	GM12878	blood:	n/a	n/a
10	BATF	chr21:48028473-48028947	GM12878	blood:	n/a	n/a
11	BATF	chr21:48028436-48029053	GM12878	blood:	n/a	n/a
12	BATF	chr21:48058299-48058586	GM12878	blood:	n/a	n/a
13	BCL11A	chr21:48058286-48058514	GM12878	blood:	n/a	n/a
14	BCL11A	chr21:48058312-48058550	GM12878	blood:	n/a	n/a
15	BCL3	chr21:48084505-48084827	GM12878	blood:	n/a	n/a
16	BCL3	chr21:48084540-48084760	GM12878	blood:	n/a	n/a
17	BCLAF1	chr21:48028466-48029094	GM12878	blood:	n/a	n/a
18	BCLAF1	chr21:48054738-48055175	GM12878	blood:	n/a	n/a
19	BCLAF1	chr21:48025984-48026402	GM12878	blood:	n/a	n/a
20	BCLAF1	chr21:48081154-48081530	GM12878	blood:	n/a	n/a
21	CBX3	chr21:48075124-48075496	K562	blood:	n/a	n/a
22	CBX3	chr21:48054356-48056106	K562	blood:	n/a	n/a
23	CEBPB	chr21:48058257-48058541	K562	blood:	n/a	n/a
24	CEBPB	chr21:48047658-48048067	K562	blood:	n/a	n/a
25	CEBPB	chr21:48047791-48047968	K562	blood:	n/a	n/a
26	CEBPB	chr21:48064981-48065204	K562	blood:	n/a	n/a
27	CEBPD	chr21:48087649-48087923	HepG2	liver:	n/a	n/a
28	CEBPD	chr21:48054859-48055913	K562	blood:	n/a	n/a
29	CEBPD	chr21:48055110-48055815	HepG2	liver:	n/a	n/a
30	CREB1	chr21:48081058-48081481	H1-hESC	embryonic stem cell:	n/a	n/a
31	CREB1	chr21:48054848-48056254	K562	blood:	n/a	n/a
32	CREB1	chr21:48054804-48055837	H1-hESC	embryonic stem cell:	n/a	n/a
33	CREB1	chr21:48054940-48056118	A549	lung:	n/a	n/a
34	CREB1	chr21:48054821-48056265	HepG2	liver:	n/a	n/a
35	CREB1	chr21:48054788-48056180	GM12878	blood:	n/a	n/a
36	CREB1	chr21:48054978-48055140	A549	lung:	n/a	n/a
37	CREB1	chr21:48054844-48055240	ECC-1	luminal epithelium:	n/a	n/a
38	CREB1	chr21:48054806-48056067	H1-hESC	embryonic stem cell:	n/a	n/a
39	CREB1	chr21:48054800-48055327	ECC-1	luminal epithelium:	n/a	n/a
40	CTCF	chr21:48081200-48081350	GM12871	blood:	n/a	n/a
41	CTCF	chr21:48081160-48081310	HCT-116	colon:	n/a	n/a
42	CTCF	chr21:48081200-48081350	GM12872	blood:	n/a	n/a
43	CTCF	chr21:48081240-48081390	HVMF	connective:	n/a	n/a
44	CTCF	chr21:48054973-48055206	MCF-7	breast:	n/a	chr21:48055091-48055107
45	CTCF	chr21:48063436-48063565	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chr21:48087420-48087570	HMEC	breast:	n/a	n/a
47	CTCF	chr21:48059720-48059870	MCF-7	breast:	n/a	n/a
48	CTCF	chr21:48028977-48029064	GM10266	blood:	n/a	n/a
49	CTCF	chr21:48083260-48083410	HMEC	breast:	n/a	n/a
50	CTCF	chr21:48054980-48055130	AG10803	skin:	n/a	chr21:48055091-48055107

(count:2380 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:48055224-48055274	HCPEpiC	choroid plexus:	n/a
2	chr21:48055224-48055274	HCPEpiC	choroid plexus:	n/a
3	chr21:48055366-48055416	GM12892	blood:	n/a
4	chr21:48052757-48052807	ProgFib	skin:	n/a
5	chr21:48087589-48087639	NB4	blood:	n/a
6	chr21:48068452-48068502	HIPEpiC	eye:	n/a
7	chr21:48055629-48055679	HAEpiC	amniotic membrane:	n/a
8	chr21:48055631-48055681	HAEpiC	amniotic membrane:	n/a
9	chr21:48078809-48078859	CMK	blood:	n/a
10	chr21:48081619-48081669	HAEpiC	amniotic membrane:	n/a
11	chr21:48091011-48091061	HNPCEpiC	eye:	n/a
12	chr21:48069229-48069279	HepG2	liver:	n/a
13	chr21:48088150-48088200	AG04450	lung:	fetal
14	chr21:48052757-48052807	HPAEpiC	pulmonary alveolar:	n/a
15	chr21:48052757-48052807	NB4	blood:	n/a
16	chr21:48055212-48055262	HPAEpiC	pulmonary alveolar:	n/a
17	chr21:48081066-48081116	AoSMC	blood vessel:	n/a
18	chr21:48081686-48081736	AG09319	gingival:	n/a
19	chr21:48055212-48055262	GM12891	blood:	n/a
20	chr21:48055366-48055416	HRCEpiC	kidney:	n/a
21	chr21:48026181-48026231	HPAEpiC	pulmonary alveolar:	n/a
22	chr21:48055366-48055416	PrEC	prostate:	n/a
23	chr21:48072745-48072795	HIPEpiC	eye:	n/a
24	chr21:48026298-48026348	NHDF-neo	bronchial:	n/a
25	chr21:48055629-48055679	HRE	kidney:	n/a
26	chr21:48055715-48055765	HCT-116	colon:	n/a
27	chr21:48088046-48088096	Caco-2	colon:	n/a
28	chr21:48088046-48088096	HUVEC	blood vessel:	n/a
29	chr21:48081242-48081292	GM06990	blood:	n/a
30	chr21:48055338-48055388	NHBE	bronchial:	n/a
31	chr21:48055224-48055274	HRE	kidney:	n/a
32	chr21:48054897-48054947	BE2_C	brain:	n/a
33	chr21:48068452-48068502	HCT-116	colon:	n/a
34	chr21:48081242-48081292	Jurkat	blood:	n/a
35	chr21:48078809-48078859	IMR90	lung:	fetal
36	chr21:48026181-48026231	HL-60	blood:	n/a
37	chr21:48068585-48068635	HMEC	breast:	n/a
38	chr21:48068452-48068502	NH-A	brain:	n/a
39	chr21:48087589-48087639	MCF10A-Er-Src	breast:	n/a
40	chr21:48055366-48055416	Hepatocyte	liver:	n/a
41	chr21:48055631-48055681	HCF	heart:	n/a
42	chr21:48088150-48088200	AG09309	skin:	n/a
43	chr21:48055631-48055681	SAEC	small airway:	n/a
44	chr21:48055366-48055416	HUVEC	blood vessel:	n/a
45	chr21:48090508-48090558	SKMC	muscle:	n/a
46	chr21:48055224-48055274	ECC-1	luminal epithelium:	n/a
47	chr21:48087452-48087502	K562	blood:	n/a
48	chr21:48055519-48055569	HCM	heart:	n/a
49	chr21:48068638-48068688	HCF	heart:	n/a
50	chr21:48081066-48081116	MCF-7	breast:	n/a

(count:130 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr21:48081818..48084383-chr21:48086010..48087998,2	MCF-7	breast:
2	chr21:48069135..48075784-chr21:48076835..48082817,8	MCF-7	breast:
3	chr21:48025522..48028149-chr21:48060514..48063166,2	MCF-7	breast:
4	chr21:48066242..48069643-chr21:48070010..48074183,7	K562	blood:
5	chr21:47705393..47707000-chr21:48055095..48056977,2	K562	blood:
6	chr21:48092221..48094129-chr21:48096913..48098673,2	MCF-7	breast:
7	chr21:48059228..48062672-chr21:48065959..48068776,3	MCF-7	breast:
8	chr21:48068008..48071695-chr21:48072637..48076225,4	MCF-7	breast:
9	chr21:47877118..47880921-chr21:48053345..48058142,9	K562	blood:
10	chr21:48055128..48057107-chr21:48067363..48069357,2	MCF-7	breast:
11	chr21:48024575..48027546-chr21:48055306..48056858,2	K562	blood:
12	chr21:48054963..48055735-chr3:50329204..50329933,2	NB4	blood:
13	chr12:133287222..133287841-chr21:48055027..48055792,2	NB4	blood:
14	chr21:48063366..48065608-chr21:48072817..48075580,2	MCF-7	breast:
15	chr21:47647612..47649806-chr21:48055027..48056571,2	K562	blood:
16	chr21:48016422..48019126-chr21:48030129..48032645,2	K562	blood:
17	chr21:48054376..48056073-chr21:48072079..48074243,2	K562	blood:
18	chr21:48075305..48080605-chr21:48080906..48086226,8	K562	blood:
19	chr21:48024458..48026156-chr21:48057416..48059802,2	K562	blood:
20	chr21:48081260..48084193-chr21:48084438..48088004,4	MCF-7	breast:
21	chr21:48070689..48072483-chr21:48074893..48076580,2	K562	blood:
22	chr10:2781607..2783125-chr21:48064505..48066265,2	MCF-7	breast:
23	chr21:48054835..48055519-chr5:158523349..158524349,3	MCF-7	breast:
24	chr21:48070689..48072483-chr21:48074893..48076580,2	K562	blood:
25	chr21:48055038..48055911-chr5:158523369..158523869,2	Hela-S3	cervix:
26	chr21:47878168..47880063-chr21:48054664..48057491,4	MCF-7	breast:
27	chr21:48023339..48026982-chr21:48053855..48056881,6	MCF-7	breast:
28	chr21:48045325..48047440-chr21:48054807..48056877,2	K562	blood:
29	chr21:48054348..48057362-chr21:48062068..48064635,4	K562	blood:
30	chr21:48081260..48084193-chr21:48084438..48088004,4	MCF-7	breast:
31	chr21:48028979..48030812-chr21:48051870..48054019,2	K562	blood:
32	chr21:48054316..48057026-chr21:48067023..48068538,2	K562	blood:
33	chr21:47875258..47880014-chr21:48054452..48058643,10	K562	blood:
34	chr21:48052631..48057186-chr21:48078871..48083170,5	MCF-7	breast:
35	chr15:55790459..55791055-chr21:48054984..48055756,2	HCT-116	colon:
36	chr21:48042730..48044237-chr21:48044461..48046707,2	K562	blood:
37	chr21:48023339..48026982-chr21:48053855..48056881,6	MCF-7	breast:
38	chr21:47955411..47957434-chr21:48055066..48056738,2	K562	blood:
39	chr17:25620789..25621556-chr21:48054884..48055505,2	Hela-S3	cervix:
40	chr21:48062111..48065887-chr21:48068207..48070347,4	K562	blood:
41	chr14:75745044..75745708-chr21:48055135..48055722,2	Hela-S3	cervix:
42	chr1:36396247..36397104-chr21:48055435..48056034,2	HCT-116	colon:
43	chr21:47979855..47982153-chr21:48055162..48056734,2	MCF-7	breast:
44	chr21:48086773..48089606-chr21:48089953..48091460,2	MCF-7	breast:
45	chr21:48060242..48061768-chr21:48067203..48069448,2	K562	blood:
46	chr21:48085636..48087391-chr21:48088276..48090254,2	K562	blood:
47	chr21:48092221..48094129-chr21:48096913..48098673,2	MCF-7	breast:
48	chr21:48066275..48067897-chr21:48072092..48074993,2	MCF-7	breast:
49	chr1:207494972..207495556-chr21:48055180..48055885,2	Hela-S3	cervix:
50	chr21:48024544..48027148-chr21:48052838..48054939,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-S100B-1	chr21:48073470-48073934	NONHSAT083076
2	lnc-DIP2A-5	chr21:48084207-48084862	NONHSAT083074
3	lnc-DIP2A-5	chr21:48055527-48055675	NONHSAT083074

No data

Variant related genes	Relation type
PRMT2	TF binding region
DSTNP1	TF binding region
S100B	TF binding region
PRMT2	CpG island
DSTNP1	CpG island
S100B	CpG island
ENSG00000231473	chromatin interactions
ENSG00000214706	chromatin interactions
ENSG00000259251	chromatin interactions
ENSG00000247077	chromatin interactions
ENSG00000265692	chromatin interactions
ENSG00000256061	chromatin interactions
ENSG00000232065	chromatin interactions
ENSG00000123358	chromatin interactions
ENSG00000160298	chromatin interactions
ENSG00000204054	chromatin interactions
ENSG00000197153	chromatin interactions
ENSG00000233224	chromatin interactions
ENSG00000160285	chromatin interactions
ENSG00000164330	chromatin interactions
ENSG00000129003	chromatin interactions
ENSG00000129657	chromatin interactions
ENSG00000109790	chromatin interactions
ENSG00000105699	chromatin interactions
ENSG00000139687	chromatin interactions
ENSG00000170345	chromatin interactions
ENSG00000160294	chromatin interactions
ENSG00000230982	chromatin interactions
ENSG00000160307	chromatin interactions
ENSG00000126070	chromatin interactions
ENSG00000202239	chromatin interactions
ENSG00000260213	chromatin interactions
ENSG00000160310	chromatin interactions
ENSG00000166454	chromatin interactions
ENSG00000109046	chromatin interactions
ENSG00000261771	chromatin interactions
ENSG00000160305	chromatin interactions
ENSG00000160299	chromatin interactions
ENSG00000263583	chromatin interactions
ENSG00000182362	chromatin interactions
ENSG00000215424	chromatin interactions
ENSG00000272283	chromatin interactions
ENSG00000196352	chromatin interactions
ENSG00000118873	chromatin interactions

Extended variants
information (count: 2942 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:2942 , 50 per page) page: 1 2 3 4 5 6 7 ... 59

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2839364	chr21:48025794-48025795	Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs532245327	chr21:48025868-48025869	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs531486994	chr21:48025924-48025925	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs2839365	chr21:48025946-48025947	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs567711439	chr21:48025947-48025948	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs558135551	chr21:48026033-48026034	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs77386374	chr21:48026044-48026045	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs547044169	chr21:48026070-48026071	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs140728149	chr21:48026111-48026112	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs145716312	chr21:48026119-48026120	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs190790029	chr21:48026141-48026142	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs147800887	chr21:48026142-48026143	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs141221581	chr21:48026161-48026162	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs574173555	chr21:48026222-48026223	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs567694448	chr21:48026286-48026287	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs78677635	chr21:48026287-48026288	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs535857038	chr21:48026345-48026346	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs3788266	chr21:48026355-48026356	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs75358186	chr21:48026398-48026399	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs546304105	chr21:48026425-48026426	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs182088935	chr21:48026436-48026437	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs2839366	chr21:48026443-48026444	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs543351906	chr21:48026444-48026445	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs186193494	chr21:48026445-48026446	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs189784503	chr21:48026464-48026465	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs182144110	chr21:48026476-48026477	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs558997974	chr21:48026497-48026498	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs185717569	chr21:48026541-48026542	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs138023961	chr21:48026547-48026548	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs570952165	chr21:48026594-48026595	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs538437357	chr21:48026599-48026600	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs4818848	chr21:48026612-48026613	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs568782978	chr21:48026627-48026628	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs74578526	chr21:48026630-48026631	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	mRNA abundance
35	rs190088880	chr21:48026638-48026639	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs554185082	chr21:48026659-48026660	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs372098168	chr21:48026735-48026736	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs74774096	chr21:48026773-48026774	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs572508674	chr21:48026854-48026855	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs10432968	chr21:48026856-48026857	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs76299096	chr21:48026900-48026901	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs558280403	chr21:48026920-48026921	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs368226263	chr21:48026934-48026935	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs143193556	chr21:48026962-48026963	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs543612686	chr21:48026964-48026965	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs59339695	chr21:48027015-48027016	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs573621876	chr21:48027030-48027031	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs540956644	chr21:48027068-48027069	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs9975257	chr21:48027070-48027071	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs9978658	chr21:48027084-48027085	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

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:2878 , 50 per page) page: 1 2 3 4 5 6 7 ... 58

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:48019800-48025800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr21:48022000-48026200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr21:48023200-48025800	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr21:48024200-48025800	Enhancers	Fetal Lung	lung
5	chr21:48024400-48025800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
6	chr21:48024400-48028000	Enhancers	Fetal Thymus	thymus
7	chr21:48024600-48025800	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr21:48024600-48026000	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr21:48024600-48026200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr21:48024600-48026200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr21:48024600-48026400	Enhancers	Rectal Mucosa Donor 29	rectum
12	chr21:48024600-48028000	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr21:48024800-48025800	Flanking Active TSS	Brain Hippocampus Middle	brain
14	chr21:48024800-48026800	Enhancers	Duodenum Mucosa	Duodenum
15	chr21:48024800-48026800	Enhancers	Fetal Muscle Trunk	muscle
16	chr21:48024800-48026800	Enhancers	Fetal Muscle Leg	muscle
17	chr21:48024800-48027200	Enhancers	Primary B cells from cord blood	blood
18	chr21:48024800-48027200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr21:48024800-48027200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
20	chr21:48024800-48027600	Enhancers	Primary T cells fromperipheralblood	blood
21	chr21:48024800-48027600	Enhancers	Primary hematopoietic stem cells	blood
22	chr21:48025000-48025800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr21:48025000-48025800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr21:48025000-48025800	Enhancers	Fetal Brain Male	brain
25	chr21:48025000-48026400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr21:48025000-48026600	Enhancers	Placenta	Placenta
27	chr21:48025000-48026600	Enhancers	Fetal Stomach	stomach
28	chr21:48025000-48026600	Enhancers	Thymus	Thymus
29	chr21:48025000-48026600	Enhancers	Spleen	Spleen
30	chr21:48025000-48027000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr21:48025000-48027000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr21:48025000-48027000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr21:48025000-48027000	Enhancers	Adipose Nuclei	Adipose
34	chr21:48025000-48027200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr21:48025000-48027400	Enhancers	Brain Angular Gyrus	brain
36	chr21:48025200-48025800	Flanking Active TSS	Brain Anterior Caudate	brain
37	chr21:48025200-48026400	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr21:48025200-48026600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
39	chr21:48025200-48026600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr21:48025400-48026200	Enhancers	GM12878-XiMat	blood
41	chr21:48025400-48026600	Enhancers	Brain Germinal Matrix	brain
42	chr21:48025400-48026600	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr21:48025400-48026600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
44	chr21:48025400-48026800	Enhancers	Dnd41	blood
45	chr21:48025400-48027000	Enhancers	Primary B cells from peripheral blood	blood
46	chr21:48025600-48025800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr21:48025600-48025800	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr21:48025600-48025800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr21:48025600-48025800	Flanking Active TSS	Brain Substantia Nigra	brain
50	chr21:48025600-48025800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle

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