Variant report

Variant	nsv470911
Chromosome Location	chr21:47535248-47591770
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1780)
CpG islands
(count:2628)
Chromatin interactive
region (count:118)
LncRNA
region (count:11)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1780 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr21:47573288-47573602	K562	blood:	n/a	n/a
2	ARID3A	chr21:47563499-47564183	K562	blood:	n/a	n/a
3	ARID3A	chr21:47567272-47567595	K562	blood:	n/a	n/a
4	ARID3A	chr21:47563609-47563663	HepG2	liver:	n/a	n/a
5	ARID3A	chr21:47567344-47567570	HepG2	liver:	n/a	n/a
6	ARID3A	chr21:47563898-47564177	HepG2	liver:	n/a	n/a
7	ARID3A	chr21:47573265-47573639	HepG2	liver:	n/a	n/a
8	ATF1	chr21:47553902-47554085	K562	blood:	n/a	n/a
9	ATF1	chr21:47563551-47564161	K562	blood:	n/a	n/a
10	ATF3	chr21:47563835-47564196	K562	blood:	n/a	n/a
11	ATF3	chr21:47563909-47564147	K562	blood:	n/a	n/a
12	ATF3	chr21:47551068-47551243	K562	blood:	n/a	n/a
13	ATF3	chr21:47580131-47580292	K562	blood:	n/a	n/a
14	BACH1	chr21:47567277-47567640	H1-hESC	embryonic stem cell:	n/a	n/a
15	BACH1	chr21:47573382-47573595	K562	blood:	n/a	n/a
16	BACH1	chr21:47568212-47568216	K562	blood:	n/a	n/a
17	BACH1	chr21:47573191-47573764	H1-hESC	embryonic stem cell:	n/a	n/a
18	BCL3	chr21:47547814-47548042	GM12878	blood:	n/a	n/a
19	BCLAF1	chr21:47563415-47563720	GM12878	blood:	n/a	n/a
20	BHLHE40	chr21:47563870-47564191	A549	lung:	n/a	n/a
21	BHLHE40	chr21:47575894-47576061	K562	blood:	n/a	n/a
22	BHLHE40	chr21:47575822-47576112	HepG2	liver:	n/a	n/a
23	BHLHE40	chr21:47573243-47573469	GM12878	blood:	n/a	n/a
24	BHLHE40	chr21:47575325-47576387	HepG2	liver:	n/a	chr21:47575500-47575516
25	BHLHE40	chr21:47563433-47564319	K562	blood:	n/a	n/a
26	BHLHE40	chr21:47545687-47545789	K562	blood:	n/a	n/a
27	BHLHE40	chr21:47572865-47573684	K562	blood:	n/a	n/a
28	BHLHE40	chr21:47563457-47564245	GM12878	blood:	n/a	n/a
29	BHLHE40	chr21:47576732-47576839	K562	blood:	n/a	n/a
30	BHLHE40	chr21:47573220-47573997	HepG2	liver:	n/a	n/a
31	BHLHE40	chr21:47563666-47564183	HepG2	liver:	n/a	n/a
32	BHLHE40	chr21:47560121-47560208	K562	blood:	n/a	n/a
33	BHLHE40	chr21:47567337-47567658	K562	blood:	n/a	n/a
34	BHLHE40	chr21:47545271-47545435	K562	blood:	n/a	chr21:47545317-47545326
35	BHLHE40	chr21:47547550-47548181	K562	blood:	n/a	n/a
36	BRCA1	chr21:47563477-47564157	Hela-S3	cervix:	n/a	n/a
37	BRCA1	chr21:47563648-47563737	GM12878	blood:	n/a	n/a
38	BRCA1	chr21:47573250-47573361	Hela-S3	cervix:	n/a	n/a
39	CBX3	chr21:47563395-47564191	K562	blood:	n/a	n/a
40	CBX3	chr21:47567268-47567683	K562	blood:	n/a	n/a
41	CBX3	chr21:47573188-47573536	K562	blood:	n/a	n/a
42	CBX3	chr21:47576615-47576991	K562	blood:	n/a	n/a
43	CBX3	chr21:47573104-47573617	K562	blood:	n/a	n/a
44	CBX3	chr21:47580626-47580924	K562	blood:	n/a	n/a
45	CBX3	chr21:47534797-47535280	HCT-116	colon:	n/a	n/a
46	CBX3	chr21:47562406-47563072	K562	blood:	n/a	n/a
47	CCNT2	chr21:47572868-47574278	K562	blood:	n/a	chr21:47573366-47573375 chr21:47573373-47573382 chr21:47573798-47573807
48	CCNT2	chr21:47581197-47581452	K562	blood:	n/a	n/a
49	CCNT2	chr21:47544395-47544510	K562	blood:	n/a	n/a
50	CCNT2	chr21:47551988-47552374	K562	blood:	n/a	n/a

(count:2628 , 50 per page) page: 1 2 3 4 5 6 7 ... 53

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:47552112-47552162	HCM	heart:	n/a
2	chr21:47549369-47549419	MCF-7	breast:	n/a
3	chr21:47544366-47544416	HRCEpiC	kidney:	n/a
4	chr21:47536647-47536697	U87	brain:	n/a
5	chr21:47580738-47580788	HIPEpiC	eye:	n/a
6	chr21:47552112-47552162	HCM	heart:	n/a
7	chr21:47549369-47549419	MCF-7	breast:	n/a
8	chr21:47544366-47544416	HRCEpiC	kidney:	n/a
9	chr21:47536647-47536697	U87	brain:	n/a
10	chr21:47580738-47580788	HIPEpiC	eye:	n/a
11	chr21:47575134-47575184	GM12892	blood:	n/a
12	chr21:47576844-47576894	Caco-2	colon:	n/a
13	chr21:47581042-47581092	HCT-116	colon:	n/a
14	chr21:47575416-47575466	SK-N-SH_RA	brain:	n/a
15	chr21:47552112-47552162	HIPEpiC	eye:	n/a
16	chr21:47561781-47561831	ovcar-3	ovarian:	n/a
17	chr21:47575416-47575466	Jurkat	blood:	n/a
18	chr21:47575504-47575554	HCT-116	colon:	n/a
19	chr21:47551108-47551158	HCM	heart:	n/a
20	chr21:47585850-47585900	MCF-7	breast:	n/a
21	chr21:47553567-47553617	HCM	heart:	n/a
22	chr21:47551220-47551270	NT2-D1	testis:	n/a
23	chr21:47551987-47552037	HCT-116	colon:	n/a
24	chr21:47582351-47582401	PrEC	prostate:	n/a
25	chr21:47546030-47546080	HIPEpiC	eye:	n/a
26	chr21:47566968-47567018	T-47D	breast:	n/a
27	chr21:47549635-47549685	PANC-1	pancreas:	n/a
28	chr21:47582049-47582099	HIPEpiC	eye:	n/a
29	chr21:47536647-47536697	NHBE	bronchial:	n/a
30	chr21:47575416-47575466	AG04450	lung:	fetal
31	chr21:47575134-47575184	T-47D	breast:	n/a
32	chr21:47575416-47575466	RPTEC	kidney:	n/a
33	chr21:47549369-47549419	HRCEpiC	kidney:	n/a
34	chr21:47582049-47582099	K562	blood:	n/a
35	chr21:47561781-47561831	Caco-2	colon:	n/a
36	chr21:47569479-47569529	HRE	kidney:	n/a
37	chr21:47547796-47547846	K562	blood:	n/a
38	chr21:47541643-47541693	H1-hESC	embryonic stem cell:	embryo
39	chr21:47585850-47585900	SAEC	small airway:	n/a
40	chr21:47582049-47582099	HepG2	liver:	n/a
41	chr21:47553567-47553617	T-47D	breast:	n/a
42	chr21:47585850-47585900	GM19239	blood:	n/a
43	chr21:47556290-47556340	SK-N-SH_RA	brain:	n/a
44	chr21:47575547-47575597	Hepatocyte	liver:	n/a
45	chr21:47581405-47581455	GM12891	blood:	n/a
46	chr21:47582351-47582401	MCF-7	breast:	n/a
47	chr21:47581558-47581608	HIPEpiC	eye:	n/a
48	chr21:47541643-47541693	AG09309	skin:	n/a
49	chr21:47551220-47551270	H1-hESC	embryonic stem cell:	embryo
50	chr21:47575547-47575597	RPTEC	kidney:	n/a

(count:118 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr21:47538006..47540083-chr21:47541061..47544033,2	K562	blood:
2	chr21:47538617..47540364-chr21:47544216..47545924,2	K562	blood:
3	chr21:47518390..47520810-chr21:47533639..47537414,3	MCF-7	breast:
4	chr21:47564368..47568597-chr21:47741614..47745388,4	K562	blood:
5	chr21:47573565..47576139-chr21:47579614..47582261,4	K562	blood:
6	chr21:47572328..47575443-chr21:47578503..47583188,4	MCF-7	breast:
7	chr21:47572189..47573895-chr21:47587183..47588702,2	K562	blood:
8	chr21:47541436..47543362-chr21:47547811..47549445,2	K562	blood:
9	chr21:47563716..47566123-chr21:47602803..47604796,2	K562	blood:
10	chr21:47560408..47563528-chr21:47564835..47567522,3	MCF-7	breast:
11	chr21:47541862..47543590-chr21:47545123..47546929,2	K562	blood:
12	chr21:47578880..47581848-chr21:47584809..47588383,3	K562	blood:
13	chr21:47542773..47546170-chr21:47547132..47548940,4	MCF-7	breast:
14	chr21:47559020..47560832-chr21:47561007..47562521,2	MCF-7	breast:
15	chr21:47558753..47560754-chr21:47562051..47563562,2	K562	blood:
16	chr21:47533578..47536250-chr21:47536391..47538002,2	MCF-7	breast:
17	chr21:47591191..47593431-chr21:47599705..47602062,3	MCF-7	breast:
18	chr21:47552136..47555108-chr21:47567906..47569814,2	K562	blood:
19	chr21:47578648..47581560-chr21:47583837..47585987,2	MCF-7	breast:
20	chr21:47563777..47566243-chr21:47580677..47583007,2	K562	blood:
21	chr21:47575923..47577951-chr21:47583383..47585806,2	K562	blood:
22	chr21:47578648..47581560-chr21:47583837..47585987,2	MCF-7	breast:
23	chr21:47572811..47573674-chr21:47629810..47630678,4	MCF-7	breast:
24	chr21:47583504..47585135-chr21:47586773..47588426,2	K562	blood:
25	chr21:47538006..47540083-chr21:47541061..47544033,2	K562	blood:
26	chr21:47532227..47535245-chr21:47541514..47543386,3	K562	blood:
27	chr21:47571809..47573470-chr21:47577940..47580540,3	K562	blood:
28	chr21:47571733..47573390-chr21:47601169..47604058,2	K562	blood:
29	chr21:47579366..47581441-chr21:47603875..47605706,3	K562	blood:
30	chr21:47565931..47567965-chr21:47573365..47574970,2	K562	blood:
31	chr21:47562180..47565264-chr21:47646835..47649294,3	MCF-7	breast:
32	chr21:47540169..47542673-chr21:47591421..47593527,2	MCF-7	breast:
33	chr21:47558689..47561442-chr21:47568710..47571473,2	K562	blood:
34	chr21:47542756..47544736-chr21:47549533..47552490,2	K562	blood:
35	chr21:47572801..47575123-chr21:47608249..47610070,2	MCF-7	breast:
36	chr21:47560408..47563528-chr21:47564835..47567522,3	MCF-7	breast:
37	chr21:47588823..47590462-chr21:47601081..47603080,2	MCF-7	breast:
38	chr21:47578880..47581848-chr21:47584809..47588383,3	K562	blood:
39	chr21:47564736..47567085-chr21:47578080..47580146,2	K562	blood:
40	chr21:47476412..47478192-chr21:47563693..47565789,2	K562	blood:
41	chr21:47528742..47530746-chr21:47548345..47549950,2	K562	blood:
42	chr21:47573104..47575985-chr21:47579204..47581250,2	MCF-7	breast:
43	chr21:47567267..47569821-chr21:47706206..47709016,2	K562	blood:
44	chr21:47559020..47560832-chr21:47561007..47562521,2	MCF-7	breast:
45	chr21:47547417..47550838-chr21:47552668..47556844,4	K562	blood:
46	chr21:47541683..47544429-chr21:47545016..47549303,6	MCF-7	breast:
47	chr21:47572242..47575458-chr21:47578361..47583454,7	K562	blood:
48	chr21:47566012..47569560-chr21:47570028..47571823,3	K562	blood:
49	chr21:47587472..47590076-chr21:47646984..47649833,2	MCF-7	breast:
50	chr21:47547743..47554326-chr21:47559264..47565052,9	K562	blood:

(count:11 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-COL6A2-5	chr21:47560542-47560952	NONHSAT083024
2	lnc-C21orf56-2	chr21:47559345-47560233	NONHSAT083026
3	lnc-COL6A2-5	chr21:47559330-47560189	NONHSAT083024
4	lnc-COL6A2-1	chr21:47571528-47571673	ENSG00000237338.1
5	lnc-FTCD-3	chr21:47557153-47557248	NONHSAT083020
6	lnc-C21orf56-2	chr21:47560385-47560987	NONHSAT083026
7	lnc-FTCD-3	chr21:47556899-47556967	NONHSAT083020
8	lnc-FTCD-4	chr21:47555044-47555257	NONHSAT083019
9	lnc-FTCD-3	chr21:47556176-47556408	NONHSAT083020
10	lnc-FTCD-4	chr21:47555352-47555666	NONHSAT083019
11	lnc-COL6A2-1	chr21:47572208-47572561	ENSG00000237338.1

No data

Variant related genes	Relation type
FTCD-AS1	TF binding region
FTCD	TF binding region
COL6A2	TF binding region
FTCD-AS1	CpG island
FTCD	CpG island
COL6A2	CpG island
ENSG00000160285	chromatin interactions
ENSG00000160294	chromatin interactions
ENSG00000160282	chromatin interactions
ENSG00000142173	chromatin interactions
ENSG00000227438	chromatin interactions
ENSG00000215424	chromatin interactions
ENSG00000182362	chromatin interactions
ENSG00000160299	chromatin interactions
ENSG00000160284	chromatin interactions
ENSG00000160298	chromatin interactions
ENSG00000226115	chromatin interactions
ENSG00000228404	chromatin interactions
ENSG00000237338	chromatin interactions

Extended variants
information (count: 4329 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:4329 , 50 per page) page: 1 2 3 4 5 6 7 ... 87

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2839108	chr21:47535248-47535249	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs374295027	chr21:47535253-47535254	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs555108188	chr21:47535257-47535258	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs188953057	chr21:47535302-47535303	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs370865800	chr21:47535311-47535312	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs534221285	chr21:47535313-47535314	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs192307087	chr21:47535330-47535331	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs374251811	chr21:47535372-47535373	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs577500537	chr21:47535385-47535386	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs544472083	chr21:47535431-47535432	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs368872919	chr21:47535432-47535433	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs563147023	chr21:47535437-47535438	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs151198765	chr21:47535442-47535443	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs183644367	chr21:47535447-47535448	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs372164318	chr21:47535494-47535495	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs559835217	chr21:47535510-47535511	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs8133910	chr21:47535536-47535537	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs543192681	chr21:47535549-47535550	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs545814606	chr21:47535603-47535604	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs564213721	chr21:47535638-47535639	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs186540342	chr21:47535659-47535660	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs373610262	chr21:47535669-47535670	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs549809335	chr21:47535697-47535698	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs568220664	chr21:47535702-47535703	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs191769718	chr21:47535705-47535706	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs200902198	chr21:47535741-47535742	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs373943374	chr21:47535745-47535746	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs367904017	chr21:47535748-47535749	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs73908531	chr21:47535756-47535757	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs200220416	chr21:47535760-47535761	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs201614683	chr21:47535761-47535762	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs397515333	chr21:47535787-47535788	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs121912940	chr21:47535795-47535796	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs140790797	chr21:47535812-47535813	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs61735835	chr21:47535816-47535817	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs139130992	chr21:47535821-47535822	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs267606748	chr21:47535831-47535832	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs113525292	chr21:47535841-47535842	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs370008311	chr21:47535847-47535848	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs556452181	chr21:47535856-47535857	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs373366455	chr21:47535858-47535859	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs537470543	chr21:47535859-47535860	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs574660347	chr21:47535863-47535864	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs565098928	chr21:47535867-47535868	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs376324465	chr21:47535914-47535915	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs372218783	chr21:47535928-47535929	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs375307603	chr21:47535931-47535932	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs138389174	chr21:47535946-47535947	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs572345625	chr21:47535963-47535964	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs369365391	chr21:47535979-47535980	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 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:1332 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47526800-47541200	Strong transcription	Osteobl	bone
2	chr21:47529600-47546800	Weak transcription	Small Intestine	intestine
3	chr21:47530800-47543000	Strong transcription	Placenta Amnion	Placenta Amnion
4	chr21:47530800-47545800	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr21:47530800-47563600	Weak transcription	Right Atrium	heart
6	chr21:47531000-47541800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr21:47531000-47547800	Strong transcription	Fetal Muscle Trunk	muscle
8	chr21:47531000-47548800	Strong transcription	Duodenum Smooth Muscle	Duodenum
9	chr21:47531400-47535600	Weak transcription	Duodenum Mucosa	Duodenum
10	chr21:47531400-47536400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr21:47531800-47537600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
12	chr21:47531800-47549400	Strong transcription	Aorta	Aorta
13	chr21:47531800-47549600	Strong transcription	Colon Smooth Muscle	Colon
14	chr21:47531800-47550000	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
15	chr21:47532000-47543000	Strong transcription	Left Ventricle	heart
16	chr21:47532000-47547200	Strong transcription	Right Ventricle	heart
17	chr21:47532000-47549400	Strong transcription	Colonic Mucosa	Colon
18	chr21:47532600-47535400	Strong transcription	HSMMtube	muscle
19	chr21:47533000-47547000	Strong transcription	Stomach Smooth Muscle	stomach
20	chr21:47533400-47539200	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr21:47534200-47536800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr21:47534600-47535400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
23	chr21:47534800-47535600	ZNF genes & repeats	Esophagus	oesophagus
24	chr21:47534800-47535600	ZNF genes & repeats	Fetal Brain Female	brain
25	chr21:47534800-47535600	ZNF genes & repeats	Fetal Intestine Small	intestine
26	chr21:47534800-47535800	ZNF genes & repeats	Ovary	ovary
27	chr21:47534800-47536200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr21:47534800-47536200	ZNF genes & repeats	Lung	lung
29	chr21:47534800-47536600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr21:47535000-47535600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr21:47535000-47535600	ZNF genes & repeats	Pancreas	Pancrea
32	chr21:47535000-47535800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr21:47535000-47536200	ZNF genes & repeats	Fetal Intestine Large	intestine
34	chr21:47535000-47546200	Strong transcription	Fetal Lung	lung
35	chr21:47535000-47554800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr21:47535200-47535400	Strong transcription	Placenta	Placenta
37	chr21:47535200-47535600	Strong transcription	NHDF-Ad	bronchial
38	chr21:47535200-47535800	Weak transcription	Brain Anterior Caudate	brain
39	chr21:47535200-47535800	Strong transcription	HSMM	muscle
40	chr21:47535200-47535800	Strong transcription	NH-A	brain
41	chr21:47535200-47536000	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr21:47535200-47536000	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr21:47535200-47536000	Weak transcription	Gastric	stomach
44	chr21:47535200-47536200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr21:47535200-47536200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr21:47535200-47536200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr21:47535200-47536400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr21:47535200-47536800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr21:47535200-47536800	Weak transcription	Fetal Brain Male	brain
50	chr21:47535200-47536800	Weak transcription	Skeletal Muscle Female	skeletal muscle

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