Variant report

Variant	nsv470907
Chromosome Location	chr21:46283669-46306161
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1693)
CpG islands
(count:1099)
Chromatin interactive
region (count:92)
LncRNA
region (count:10)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1693 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr21:46300751-46301158	K562	blood:	n/a	n/a
2	ARID3A	chr21:46291881-46292139	HepG2	liver:	n/a	n/a
3	ARID3A	chr21:46293586-46293745	HepG2	liver:	n/a	n/a
4	ARID3A	chr21:46300636-46301447	HepG2	liver:	n/a	n/a
5	ARID3A	chr21:46288985-46289262	K562	blood:	n/a	n/a
6	ARID3A	chr21:46300347-46300358	HepG2	liver:	n/a	n/a
7	ARID3A	chr21:46298661-46299094	K562	blood:	n/a	n/a
8	ARID3A	chr21:46289809-46290578	HepG2	liver:	n/a	n/a
9	ARID3A	chr21:46286897-46286938	HepG2	liver:	n/a	n/a
10	ARID3A	chr21:46292067-46292425	K562	blood:	n/a	n/a
11	ARID3A	chr21:46297883-46299174	HepG2	liver:	n/a	n/a
12	ATF1	chr21:46300774-46301448	K562	blood:	n/a	n/a
13	ATF1	chr21:46298620-46299000	K562	blood:	n/a	n/a
14	ATF1	chr21:46289760-46290073	K562	blood:	n/a	n/a
15	ATF3	chr21:46298541-46298990	K562	blood:	n/a	n/a
16	ATF3	chr21:46289704-46290140	K562	blood:	n/a	n/a
17	ATF3	chr21:46289827-46290075	K562	blood:	n/a	n/a
18	BACH1	chr21:46295482-46295673	K562	blood:	n/a	n/a
19	BACH1	chr21:46286653-46287066	H1-hESC	embryonic stem cell:	n/a	n/a
20	BACH1	chr21:46286704-46287019	K562	blood:	n/a	n/a
21	BACH1	chr21:46292351-46292654	K562	blood:	n/a	n/a
22	BACH1	chr21:46293766-46294297	H1-hESC	embryonic stem cell:	n/a	n/a
23	BATF	chr21:46300846-46301135	GM12878	blood:	n/a	n/a
24	BATF	chr21:46300837-46301167	GM12878	blood:	n/a	n/a
25	BCL3	chr21:46289724-46290106	GM12878	blood:	n/a	n/a
26	BHLHE40	chr21:46293516-46294012	HepG2	liver:	n/a	chr21:46293937-46293953
27	BHLHE40	chr21:46290410-46290715	K562	blood:	n/a	n/a
28	BHLHE40	chr21:46293694-46294113	HepG2	liver:	n/a	chr21:46293937-46293953
29	BHLHE40	chr21:46294615-46294630	K562	blood:	n/a	n/a
30	BHLHE40	chr21:46293564-46293969	A549	lung:	n/a	chr21:46293937-46293953
31	BHLHE40	chr21:46293438-46294482	GM12878	blood:	n/a	chr21:46293937-46293953
32	BHLHE40	chr21:46285501-46285911	GM12878	blood:	n/a	n/a
33	BHLHE40	chr21:46298304-46298363	GM12878	blood:	n/a	n/a
34	BHLHE40	chr21:46292393-46292567	K562	blood:	n/a	n/a
35	BHLHE40	chr21:46298667-46298985	K562	blood:	n/a	n/a
36	BHLHE40	chr21:46297860-46298842	HepG2	liver:	n/a	n/a
37	BHLHE40	chr21:46301208-46301371	HepG2	liver:	n/a	n/a
38	BHLHE40	chr21:46298368-46298374	K562	blood:	n/a	n/a
39	BHLHE40	chr21:46300830-46301330	K562	blood:	n/a	n/a
40	BHLHE40	chr21:46289845-46290126	HepG2	liver:	n/a	n/a
41	BHLHE40	chr21:46293533-46294335	K562	blood:	n/a	chr21:46293937-46293953
42	BHLHE40	chr21:46300746-46301524	GM12878	blood:	n/a	n/a
43	BHLHE40	chr21:46294887-46295533	GM12878	blood:	n/a	n/a
44	BRCA1	chr21:46294326-46294650	GM12878	blood:	n/a	n/a
45	BRCA1	chr21:46294067-46294082	GM12878	blood:	n/a	n/a
46	BRCA1	chr21:46294279-46294538	H1-hESC	embryonic stem cell:	n/a	n/a
47	BRCA1	chr21:46291633-46292600	Hela-S3	cervix:	n/a	n/a
48	BRCA1	chr21:46293688-46293937	Hela-S3	cervix:	n/a	n/a
49	BRCA1	chr21:46290375-46291105	Hela-S3	cervix:	n/a	n/a
50	BRCA1	chr21:46289490-46290155	Hela-S3	cervix:	n/a	n/a

(count:1099 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:46291868-46291918	T-47D	breast:	n/a
2	chr21:46291868-46291918	T-47D	breast:	n/a
3	chr21:46292084-46292134	GM12891	blood:	n/a
4	chr21:46293646-46293696	U87	brain:	n/a
5	chr21:46292084-46292134	K562	blood:	n/a
6	chr21:46294058-46294108	LNCaP	prostate:	n/a
7	chr21:46298354-46298404	SK-N-SH	brain:	n/a
8	chr21:46295113-46295163	U87	brain:	n/a
9	chr21:46293807-46293857	SKMC	muscle:	n/a
10	chr21:46298354-46298404	SK-N-MC	brain:	n/a
11	chr21:46292527-46292577	AG04450	lung:	fetal
12	chr21:46294356-46294406	GM06990	blood:	n/a
13	chr21:46289921-46289971	NB4	blood:	n/a
14	chr21:46294237-46294287	IMR90	lung:	fetal
15	chr21:46293563-46293613	AG09319	gingival:	n/a
16	chr21:46289921-46289971	AG10803	skin:	n/a
17	chr21:46294356-46294406	ECC-1	luminal epithelium:	n/a
18	chr21:46291868-46291918	HAEpiC	amniotic membrane:	n/a
19	chr21:46293646-46293696	BE2_C	brain:	n/a
20	chr21:46293563-46293613	RPTEC	kidney:	n/a
21	chr21:46294185-46294235	CMK	blood:	n/a
22	chr21:46295113-46295163	HRCEpiC	kidney:	n/a
23	chr21:46295113-46295163	SAEC	small airway:	n/a
24	chr21:46291868-46291918	Jurkat	blood:	n/a
25	chr21:46292084-46292134	HMEC	breast:	n/a
26	chr21:46293563-46293613	H1-hESC	embryonic stem cell:	embryo
27	chr21:46293646-46293696	HIPEpiC	eye:	n/a
28	chr21:46293807-46293857	Hepatocyte	liver:	n/a
29	chr21:46295113-46295163	Jurkat	blood:	n/a
30	chr21:46294356-46294406	GM12891	blood:	n/a
31	chr21:46294237-46294287	Hepatocyte	liver:	n/a
32	chr21:46294185-46294235	HL-60	blood:	n/a
33	chr21:46289921-46289971	HNPCEpiC	eye:	n/a
34	chr21:46303258-46303308	HPAEpiC	pulmonary alveolar:	n/a
35	chr21:46294185-46294235	NHBE	bronchial:	n/a
36	chr21:46293646-46293696	Caco-2	colon:	n/a
37	chr21:46293563-46293613	BJ	skin:	n/a
38	chr21:46294237-46294287	AG04450	lung:	fetal
39	chr21:46298354-46298404	HL-60	blood:	n/a
40	chr21:46291868-46291918	HPAEpiC	pulmonary alveolar:	n/a
41	chr21:46293646-46293696	AG09319	gingival:	n/a
42	chr21:46292084-46292134	HIPEpiC	eye:	n/a
43	chr21:46293672-46293722	HMEC	breast:	n/a
44	chr21:46292710-46292760	HUVEC	blood vessel:	n/a
45	chr21:46293809-46293859	AG09309	skin:	n/a
46	chr21:46294185-46294235	LNCaP	prostate:	n/a
47	chr21:46293563-46293613	GM12891	blood:	n/a
48	chr21:46293809-46293859	HAEpiC	amniotic membrane:	n/a
49	chr21:46291868-46291918	MCF10A-Er-Src	breast:	n/a
50	chr21:46293563-46293613	HCM	heart:	n/a

(count:92 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr21:46191657..46194151-chr21:46295408..46297409,2	MCF-7	breast:
2	chr21:46265359..46266619-chr21:46291943..46292855,4	MCF-7	breast:
3	chr21:46298053..46300206-chr21:46304270..46306029,2	K562	blood:
4	chr21:46292272..46294074-chr21:46492667..46495373,2	MCF-7	breast:
5	chr21:46296431..46298855-chr21:46300114..46303046,3	K562	blood:
6	chr21:46236678..46239215-chr21:46284689..46286960,3	MCF-7	breast:
7	chr21:46236216..46237955-chr21:46282098..46284361,2	MCF-7	breast:
8	chr21:46271436..46274134-chr21:46295574..46298347,2	K562	blood:
9	chr21:46249596..46252365-chr21:46286693..46288889,2	K562	blood:
10	chr21:46292609..46295460-chr21:46295899..46299289,8	K562	blood:
11	chr19:39335285..39337048-chr21:46290079..46292955,2	MCF-7	breast:
12	chr21:46223417..46225728-chr21:46304439..46306955,2	K562	blood:
13	chr21:46292148..46294278-chr21:46308549..46311972,5	MCF-7	breast:
14	chr21:46220413..46223818-chr21:46291771..46295209,8	K562	blood:
15	chr21:46218558..46223428-chr21:46289542..46296056,15	MCF-7	breast:
16	chr21:46219802..46220657-chr21:46291980..46292897,2	MCF-7	breast:
17	chr21:46293215..46295653-chr21:46346335..46349274,2	K562	blood:
18	chr21:46302013..46304883-chr21:46310101..46313045,3	K562	blood:
19	chr21:46296431..46298855-chr21:46300114..46303046,3	K562	blood:
20	chr21:46231789..46243695-chr21:46286819..46295664,23	MCF-7	breast:
21	chr21:46292072..46295985-chr21:46328607..46334685,5	MCF-7	breast:
22	chr21:46288400..46294755-chr21:46304910..46312238,10	K562	blood:
23	chr21:46286677..46288930-chr6:170126669..170128404,2	K562	blood:
24	chr21:46288437..46290185-chr21:46399908..46402286,2	MCF-7	breast:
25	chr21:46300718..46303390-chr21:46325614..46327160,2	MCF-7	breast:
26	chr21:46274905..46276457-chr21:46283894..46285475,2	K562	blood:
27	chr21:46234824..46239565-chr21:46284858..46289652,5	K562	blood:
28	chr21:46289444..46291829-chr21:46493246..46495939,2	MCF-7	breast:
29	chr21:46218496..46222154-chr21:46279503..46283710,3	MCF-7	breast:
30	chr15:65588153..65588988-chr21:46292057..46292933,2	Hela-S3	cervix:
31	chr21:46235322..46239751-chr21:46297172..46299366,5	MCF-7	breast:
32	chr21:46288400..46294755-chr21:46304910..46312238,10	K562	blood:
33	chr21:46288744..46296879-chr21:46346201..46354260,26	MCF-7	breast:
34	chr21:46222162..46224765-chr21:46287052..46289071,2	K562	blood:
35	chr21:46237355..46239033-chr21:46286989..46289637,2	MCF-7	breast:
36	chr21:46283208..46285602-chr21:46427466..46429012,2	MCF-7	breast:
37	chr21:46297404..46300174-chr21:46309190..46311154,2	MCF-7	breast:
38	chr21:46292144..46295711-chr21:46299536..46302276,5	K562	blood:
39	chr21:45929656..45931471-chr21:46289835..46291954,2	MCF-7	breast:
40	chr21:46294382..46294995-chr21:47312113..47312613,2	Hela-S3	cervix:
41	chr21:46194730..46196311-chr21:46292616..46294794,2	K562	blood:
42	chr21:46302796..46304799-chr21:46319469..46322179,2	MCF-7	breast:
43	chr21:46298853..46300793-chr21:46302963..46305695,2	MCF-7	breast:
44	chr21:46298853..46300793-chr21:46302963..46305695,2	MCF-7	breast:
45	chr21:46232702..46239829-chr21:46289967..46296620,21	MCF-7	breast:
46	chr21:46289780..46292382-chr21:46492719..46495344,2	MCF-7	breast:
47	chr21:46298053..46300206-chr21:46304270..46306029,2	K562	blood:
48	chr21:46300926..46303863-chr21:46305072..46307882,3	K562	blood:
49	chr21:46229150..46231758-chr21:46294546..46297296,2	MCF-7	breast:
50	chr21:46263030..46264697-chr21:46282813..46284320,2	MCF-7	breast:

(count:10 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ITGB2-1	chr21:46286389-46288992	ENSG00000250713
2	lnc-FAM207A-6	chr21:46286563-46286594	NONHSAT082889
3	lnc-FAM207A-4	chr21:46300858-46300934	NONHSAT082891
4	lnc-FAM207A-5	chr21:46296938-46297045	NONHSAT082890
5	lnc-FAM207A-5	chr21:46297141-46297447	NONHSAT082890
6	lnc-FAM207A-4	chr21:46301632-46301909	NONHSAT082891
7	lnc-FAM207A-7	chr21:46282775-46284126	l_2234_chr21:46281729-46284126_testes
8	lnc-FAM207A-7	chr21:46282799-46284149	NONHSAT082888
9	lnc-ITGB2-1	chr21:46286280-46286338	ENSG00000250713
10	lnc-FAM207A-6	chr21:46285874-46286512	NONHSAT082889

No data

Variant related genes	Relation type
PTTG1IP	TF binding region
PTTG1IP	CpG island
ENSG00000184900	chromatin interactions
ENSG00000236519	chromatin interactions
ENSG00000197381	chromatin interactions
ENSG00000183250	chromatin interactions
ENSG00000183255	chromatin interactions
ENSG00000184787	chromatin interactions
ENSG00000268856	chromatin interactions
ENSG00000235890	chromatin interactions
ENSG00000063176	chromatin interactions
ENSG00000063177	chromatin interactions
ENSG00000160256	chromatin interactions
ENSG00000269688	chromatin interactions
ENSG00000199568	chromatin interactions
ENSG00000235374	chromatin interactions
ENSG00000160255	chromatin interactions
ENSG00000273027	chromatin interactions
RNF138	miRNA target sites
GRB2	miRNA target sites

Extended variants
information (count: 1108 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:1108 , 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	rs235280	chr21:46283669-46283670	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs548833571	chr21:46283685-46283686	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
3	rs117995850	chr21:46283696-46283697	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
4	rs537564231	chr21:46283712-46283713	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
5	rs528231915	chr21:46283733-46283734	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
6	rs183447685	chr21:46283738-46283739	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
7	rs66467973	chr21:46283757-46283758	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs17004712	chr21:46283775-46283776	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs150067155	chr21:46283776-46283777	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
10	rs568837239	chr21:46283781-46283782	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
11	rs145441614	chr21:46283795-46283796	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
12	rs187730712	chr21:46283800-46283801	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
13	rs567066335	chr21:46283844-46283845	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
14	rs235281	chr21:46283869-46283870	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs559084013	chr21:46283884-46283885	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
16	rs534970952	chr21:46283886-46283887	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
17	rs577298740	chr21:46283898-46283899	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
18	rs547522838	chr21:46283924-46283925	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
19	rs544262612	chr21:46283949-46283950	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
20	rs143486646	chr21:46283951-46283952	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
21	rs574445638	chr21:46283960-46283961	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
22	rs192720793	chr21:46283968-46283969	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
23	rs182755661	chr21:46283993-46283994	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
24	rs528382271	chr21:46284010-46284011	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
25	rs540083516	chr21:46284013-46284014	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
26	rs187825299	chr21:46284071-46284072	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
27	rs79242481	chr21:46284084-46284085	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
28	rs4818738	chr21:46284110-46284111	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs567349440	chr21:46284132-46284133	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
30	rs8126687	chr21:46284133-46284134	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs192773037	chr21:46284138-46284139	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
32	rs150970025	chr21:46284139-46284140	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
33	rs116777060	chr21:46284162-46284163	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs373852427	chr21:46284183-46284184	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs534489110	chr21:46284191-46284192	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs142163784	chr21:46284202-46284203	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs558898939	chr21:46284203-46284204	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs145914216	chr21:46284217-46284218	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs367571146	chr21:46284253-46284254	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs537949198	chr21:46284272-46284273	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs201291732	chr21:46284303-46284304	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs556197570	chr21:46284331-46284332	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs570927181	chr21:46284346-46284347	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs574582593	chr21:46284387-46284388	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs572549671	chr21:46284388-46284389	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs556592481	chr21:46284398-46284399	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs142865342	chr21:46284404-46284405	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs184803978	chr21:46284468-46284469	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs150384930	chr21:46284482-46284483	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs564954142	chr21:46284486-46284487	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Down syndrome	17412756	CNVD
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Renal cell carcinoma	19461508	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Melanoma	18172304	CNVD
Autism	22958593	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Wilms tumour	21544195	CNVD
Ewing''s sarcoma	17952124	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute myeloid leukemia	16864856	CNVD
Mental retardation	21031080	CNVD
Polymicrogyria	21031080	CNVD
periventricular nodular heterotopia	21031080	CNVD
Myelodysplastic syndrome	21606161	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Breast cancer	21858162	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17899364	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Glioblastoma multiforme	18628472	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	17457615	CNVD
Ewing''s sarcoma	21437220	CNVD
Lung adenocarcinoma	17086460	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute myeloid leukemia	21358987	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	23341502	CNVD
Ovarian cancer	21720365	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	21251322	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Cholangiocarcinoma	16830362	CNVD
Down syndrome	17334655	CNVD
Neuroticism	17667963	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Autoimmune polyendocrine syndrome	18200029	CNVD
Prostate cancer	19363497	CNVD
Lung cancer	17086460	CNVD
Olfactory neuroblastoma	18408657	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Multiple myeloma	16616336	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21509527	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	17142309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	17426248	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:1681 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46267400-46285200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr21:46267400-46286600	Strong transcription	Fetal Stomach	stomach
3	chr21:46267600-46287000	Strong transcription	Brain Germinal Matrix	brain
4	chr21:46268200-46285800	Strong transcription	Fetal Muscle Leg	muscle
5	chr21:46268600-46285200	Strong transcription	Muscle Satellite Cultured Cells	--
6	chr21:46268600-46285200	Strong transcription	Osteobl	bone
7	chr21:46268600-46285400	Strong transcription	Thymus	Thymus
8	chr21:46268600-46285400	Strong transcription	HUVEC	blood vessel
9	chr21:46268600-46285800	Strong transcription	Liver	Liver
10	chr21:46268600-46286000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr21:46268600-46286600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr21:46268800-46285200	Strong transcription	Dnd41	blood
13	chr21:46268800-46285200	Strong transcription	NHLF	lung
14	chr21:46268800-46285400	Strong transcription	Duodenum Smooth Muscle	Duodenum
15	chr21:46268800-46286600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr21:46268800-46286600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr21:46268800-46286600	Strong transcription	Cortex derived primary cultured neurospheres	brain
18	chr21:46269400-46285800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr21:46271400-46286800	Weak transcription	Psoas Muscle	Psoas
20	chr21:46272400-46283800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr21:46272600-46285200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr21:46273000-46285000	Strong transcription	Duodenum Mucosa	Duodenum
23	chr21:46273000-46286600	Strong transcription	H9 Cell Line	embryonic stem cell
24	chr21:46273400-46285600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
25	chr21:46274000-46285000	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr21:46274200-46284800	Strong transcription	Rectal Mucosa Donor 31	rectum
27	chr21:46274200-46285200	Strong transcription	Fetal Intestine Small	intestine
28	chr21:46274400-46284600	Strong transcription	Fetal Intestine Large	intestine
29	chr21:46274400-46285400	Strong transcription	Sigmoid Colon	Sigmoid Colon
30	chr21:46274800-46285000	Weak transcription	Small Intestine	intestine
31	chr21:46275200-46284800	Strong transcription	Primary B cells from peripheral blood	blood
32	chr21:46275200-46285000	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr21:46275400-46284800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr21:46275400-46285000	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr21:46275600-46284600	Strong transcription	Primary T cells from cord blood	blood
36	chr21:46275600-46290600	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr21:46275800-46284800	Strong transcription	Primary neutrophils fromperipheralblood	blood
38	chr21:46275800-46285200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr21:46276000-46284800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr21:46276200-46283800	Weak transcription	NHDF-Ad	bronchial
41	chr21:46276400-46285200	Strong transcription	Fetal Thymus	thymus
42	chr21:46276400-46286000	Strong transcription	K562	blood
43	chr21:46277000-46284800	Strong transcription	Primary hematopoietic stem cells	blood
44	chr21:46277800-46286600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr21:46278200-46285600	Strong transcription	Aorta	Aorta
46	chr21:46278200-46286400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
47	chr21:46278400-46289600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr21:46278600-46284800	Strong transcription	HSMM	muscle
49	chr21:46279000-46284800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr21:46279400-46286600	Weak transcription	Fetal Brain Male	brain

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