Variant report

Variant	nsv1056152
Chromosome Location	chr21:47875370-47979259
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1559)
CpG islands
(count:1466)
Chromatin interactive
region (count:165)
LncRNA
region (count:11)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1559 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr21:47878385-47878720	HepG2	liver:	n/a	n/a
2	ARID3A	chr21:47938934-47939190	K562	blood:	n/a	n/a
3	ARID3A	chr21:47920488-47920688	HepG2	liver:	n/a	n/a
4	ARID3A	chr21:47952621-47952633	K562	blood:	n/a	n/a
5	ARID3A	chr21:47920281-47920826	K562	blood:	n/a	n/a
6	ARID3A	chr21:47875556-47876233	K562	blood:	n/a	n/a
7	ARID3A	chr21:47878341-47878973	K562	blood:	n/a	n/a
8	ARID3A	chr21:47929698-47930014	HepG2	liver:	n/a	n/a
9	ARID3A	chr21:47904081-47904237	K562	blood:	n/a	n/a
10	ATF1	chr21:47938880-47939286	K562	blood:	n/a	n/a
11	ATF1	chr21:47875584-47876061	K562	blood:	n/a	n/a
12	ATF1	chr21:47878081-47878819	K562	blood:	n/a	n/a
13	ATF2	chr21:47878340-47878735	GM12878	blood:	n/a	n/a
14	ATF2	chr21:47878139-47878531	H1-hESC	embryonic stem cell:	n/a	n/a
15	ATF2	chr21:47923893-47924921	GM12878	blood:	n/a	n/a
16	ATF3	chr21:47878278-47878895	K562	blood:	n/a	chr21:47878846-47878855
17	BACH1	chr21:47920167-47920996	K562	blood:	n/a	n/a
18	BACH1	chr21:47952970-47953041	K562	blood:	n/a	n/a
19	BACH1	chr21:47877674-47879023	H1-hESC	embryonic stem cell:	n/a	n/a
20	BACH1	chr21:47951903-47951965	K562	blood:	n/a	n/a
21	BACH1	chr21:47920463-47920686	H1-hESC	embryonic stem cell:	n/a	n/a
22	BACH1	chr21:47877665-47878479	K562	blood:	n/a	n/a
23	BACH1	chr21:47875628-47875999	K562	blood:	n/a	n/a
24	BACH1	chr21:47971730-47971895	H1-hESC	embryonic stem cell:	n/a	n/a
25	BATF	chr21:47920408-47920715	GM12878	blood:	n/a	chr21:47920548-47920559 chr21:47920549-47920559
26	BATF	chr21:47924026-47924383	GM12878	blood:	n/a	n/a
27	BATF	chr21:47926236-47926570	GM12878	blood:	n/a	n/a
28	BATF	chr21:47926215-47926563	GM12878	blood:	n/a	n/a
29	BATF	chr21:47924164-47924332	GM12878	blood:	n/a	n/a
30	BATF	chr21:47920353-47920709	GM12878	blood:	n/a	chr21:47920548-47920559 chr21:47920549-47920559
31	BCL11A	chr21:47926222-47926479	GM12878	blood:	n/a	n/a
32	BCLAF1	chr21:47877842-47878751	GM12878	blood:	n/a	chr21:47878729-47878742
33	BCLAF1	chr21:47923908-47924474	GM12878	blood:	n/a	n/a
34	BCLAF1	chr21:47926262-47926571	GM12878	blood:	n/a	n/a
35	BCLAF1	chr21:47878196-47878751	GM12878	blood:	n/a	chr21:47878729-47878742
36	BHLHE40	chr21:47879784-47879916	K562	blood:	n/a	n/a
37	BHLHE40	chr21:47875586-47876148	K562	blood:	n/a	n/a
38	BHLHE40	chr21:47929680-47929994	HepG2	liver:	n/a	n/a
39	BHLHE40	chr21:47935173-47935350	GM12878	blood:	n/a	n/a
40	BHLHE40	chr21:47939011-47939309	K562	blood:	n/a	n/a
41	BHLHE40	chr21:47974833-47975086	K562	blood:	n/a	n/a
42	BHLHE40	chr21:47938192-47938358	K562	blood:	n/a	n/a
43	BHLHE40	chr21:47902204-47902406	K562	blood:	n/a	n/a
44	BHLHE40	chr21:47878012-47878958	HepG2	liver:	n/a	chr21:47878832-47878848
45	BHLHE40	chr21:47878225-47879080	GM12878	blood:	n/a	chr21:47878832-47878848
46	BHLHE40	chr21:47877555-47879097	K562	blood:	n/a	chr21:47878832-47878848
47	BHLHE40	chr21:47924126-47924350	GM12878	blood:	n/a	n/a
48	BRCA1	chr21:47878437-47878613	H1-hESC	embryonic stem cell:	n/a	n/a
49	BRCA1	chr21:47968213-47968319	GM12878	blood:	n/a	n/a
50	BRCA1	chr21:47877641-47879062	Hela-S3	cervix:	n/a	n/a

(count:1466 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:47877758-47877808	GM19239	blood:	n/a
2	chr21:47876058-47876108	ECC-1	luminal epithelium:	n/a
3	chr21:47877758-47877808	GM19239	blood:	n/a
4	chr21:47876058-47876108	ECC-1	luminal epithelium:	n/a
5	chr21:47965968-47966018	NHDF-neo	bronchial:	n/a
6	chr21:47876638-47876688	NHDF-neo	bronchial:	n/a
7	chr21:47879272-47879322	SAEC	small airway:	n/a
8	chr21:47878727-47878777	AG09319	gingival:	n/a
9	chr21:47914614-47914664	HNPCEpiC	eye:	n/a
10	chr21:47878281-47878331	HL-60	blood:	n/a
11	chr21:47918542-47918592	AG09309	skin:	n/a
12	chr21:47918727-47918777	T-47D	breast:	n/a
13	chr21:47881507-47881557	SK-N-SH_RA	brain:	n/a
14	chr21:47879272-47879322	GM06990	blood:	n/a
15	chr21:47918542-47918592	HUVEC	blood vessel:	n/a
16	chr21:47876638-47876688	GM19239	blood:	n/a
17	chr21:47878281-47878331	MCF-7	breast:	n/a
18	chr21:47966967-47967017	SK-N-MC	brain:	n/a
19	chr21:47882121-47882171	HUVEC	blood vessel:	n/a
20	chr21:47966967-47967017	AG04450	lung:	fetal
21	chr21:47879575-47879625	K562	blood:	n/a
22	chr21:47878727-47878777	SK-N-SH_RA	brain:	n/a
23	chr21:47876058-47876108	T-47D	breast:	n/a
24	chr21:47878727-47878777	PrEC	prostate:	n/a
25	chr21:47876058-47876108	PrEC	prostate:	n/a
26	chr21:47918727-47918777	AG04449	skin:	fetal
27	chr21:47969887-47969937	HepG2	liver:	n/a
28	chr21:47878281-47878331	GM19239	blood:	n/a
29	chr21:47878969-47879019	HEEpiC	esophagus:	n/a
30	chr21:47878746-47878796	HEEpiC	esophagus:	n/a
31	chr21:47918693-47918743	Jurkat	blood:	n/a
32	chr21:47878552-47878602	HRE	kidney:	n/a
33	chr21:47878746-47878796	HNPCEpiC	eye:	n/a
34	chr21:47878975-47879025	ovcar-3	ovarian:	n/a
35	chr21:47966967-47967017	ECC-1	luminal epithelium:	n/a
36	chr21:47876638-47876688	GM12891	blood:	n/a
37	chr21:47965968-47966018	HepG2	liver:	n/a
38	chr21:47914614-47914664	A549	lung:	n/a
39	chr21:47878281-47878331	HCT-116	colon:	n/a
40	chr21:47882121-47882171	LNCaP	prostate:	n/a
41	chr21:47876058-47876108	NT2-D1	testis:	n/a
42	chr21:47876638-47876688	AG04449	skin:	fetal
43	chr21:47877758-47877808	NHDF-neo	bronchial:	n/a
44	chr21:47917455-47917505	HRE	kidney:	n/a
45	chr21:47877758-47877808	HEEpiC	esophagus:	n/a
46	chr21:47877758-47877808	SAEC	small airway:	n/a
47	chr21:47918693-47918743	T-47D	breast:	n/a
48	chr21:47965968-47966018	H1-hESC	embryonic stem cell:	embryo
49	chr21:47879272-47879322	SK-N-SH	brain:	n/a
50	chr21:47878746-47878796	AG09309	skin:	n/a

(count:165 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr21:47956395..47958346-chr21:47958999..47961279,2	K562	blood:
2	chr21:47920966..47922800-chr21:47934411..47936721,2	K562	blood:
3	chr21:47961062..47963795-chr21:47966527..47968756,2	MCF-7	breast:
4	chr21:47945510..47948215-chr21:47949437..47951137,2	K562	blood:
5	chr21:47766960..47769080-chr21:47874541..47876756,2	MCF-7	breast:
6	chr21:47647264..47648921-chr21:47877829..47879532,2	MCF-7	breast:
7	chr21:47743254..47746166-chr21:47876901..47880445,4	MCF-7	breast:
8	chr21:47921897..47925643-chr21:47925841..47927519,3	K562	blood:
9	chr21:47878842..47881395-chr21:47894963..47898663,3	MCF-7	breast:
10	chr21:47949927..47954811-chr21:47962745..47966393,6	K562	blood:
11	chr14:75745162..75745662-chr21:47878134..47878672,2	Hela-S3	cervix:
12	chr21:47887604..47890529-chr21:47890644..47893911,5	K562	blood:
13	chr21:47962897..47964618-chr21:47964925..47967563,2	K562	blood:
14	chr21:47951124..47955048-chr21:47957159..47961247,5	K562	blood:
15	chr19:44116910..44119168-chr21:47876840..47878656,2	MCF-7	breast:
16	chr12:14923341..14924310-chr21:47877937..47878882,2	Hela-S3	cervix:
17	chr21:47877118..47880921-chr21:48053345..48058142,9	K562	blood:
18	chr21:47877528..47880072-chr21:47890482..47892466,2	MCF-7	breast:
19	chr21:47972251..47974231-chr21:48053496..48055796,2	K562	blood:
20	chr21:47972221..47973948-chr21:47980674..47982187,2	K562	blood:
21	chr21:47976473..47979943-chr21:47981689..47985824,4	K562	blood:
22	chr21:47906465..47908075-chr21:47914315..47916689,2	MCF-7	breast:
23	chr21:47874840..47880520-chr21:47886599..47894853,12	K562	blood:
24	chr21:47876440..47878945-chr21:47970776..47973767,2	MCF-7	breast:
25	chr21:47888811..47890884-chr21:47895000..47897814,3	MCF-7	breast:
26	chr21:47876987..47881294-chr21:47888393..47893414,5	K562	blood:
27	chr21:47881058..47883049-chr21:47904669..47906457,2	K562	blood:
28	chr21:47906669..47909833-chr21:47915665..47917888,4	K562	blood:
29	chr21:47894138..47896421-chr21:47897185..47899846,2	K562	blood:
30	chr21:47962897..47964618-chr21:47964925..47967563,2	K562	blood:
31	chr21:47920604..47922605-chr21:48015742..48017826,2	K562	blood:
32	chr17:72869660..72870193-chr21:47878133..47878650,2	Hela-S3	cervix:
33	chr21:47877168..47880731-chr21:47897533..47900246,3	MCF-7	breast:
34	chr21:47889351..47891047-chr21:47896142..47899048,2	K562	blood:
35	chr21:47893343..47896013-chr21:47906883..47909575,2	K562	blood:
36	chr17:59415209..59417169-chr21:47966964..47969396,2	MCF-7	breast:
37	chr21:47919811..47922466-chr21:47933322..47936721,3	K562	blood:
38	chr21:47740603..47742820-chr21:47877122..47879143,2	K562	blood:
39	chr21:47956156..47957836-chr21:47975877..47978282,2	K562	blood:
40	chr21:47956156..47957836-chr21:47975877..47978282,2	K562	blood:
41	chr21:47975607..47978026-chr21:47981816..47984257,4	MCF-7	breast:
42	chr21:47876440..47878945-chr21:47970776..47973767,2	MCF-7	breast:
43	chr21:47971877..47975830-chr21:47983188..47986029,3	K562	blood:
44	chr16:31470747..31471310-chr21:47878393..47879297,2	Hela-S3	cervix:
45	chr21:47872096..47873794-chr21:47894996..47896694,2	K562	blood:
46	chr21:47858462..47860394-chr21:47879147..47880997,2	MCF-7	breast:
47	chr21:47647264..47651365-chr21:47875652..47880068,5	K562	blood:
48	chr21:47896541..47900368-chr21:47900654..47902567,3	K562	blood:
49	chr21:47953839..47956142-chr21:47957662..47960232,2	K562	blood:
50	chr21:47964144..47967545-chr21:47972969..47977002,4	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PCNT-1	chr21:47889059-47889218	NR_046400
2	lnc-PCNT-1	chr21:47882979-47883141	NR_046400
3	lnc-PCNT-1	chr21:47889059-47889219	ENSG00000223692.1
4	lnc-PCNT-1	chr21:47882979-47883141	ENSG00000223692.1
5	lnc-PCNT-1	chr21:47882625-47882676	NR_046400
6	lnc-C21orf58-1	chr21:47871407-47878519	NONHSAT083070
7	lnc-C21orf58-1	chr21:47877997-47878593	ENSG00000245754
8	lnc-PCNT-1	chr21:47882384-47882435	ENSG00000223692.1
9	lnc-PCNT-1	chr21:47882625-47882676	ENSG00000223692.1
10	lnc-C21orf58-1	chr21:47874900-47875831	ENSG00000245754
11	lnc-PCNT-1	chr21:47882384-47882435	NR_046400

No data

Variant related genes	Relation type
ENSG00000272283	TF binding region
DIP2A-IT1	TF binding region
RNU6-396P	TF binding region
DIP2A	TF binding region
ENSG00000272283	CpG island
DIP2A-IT1	CpG island
RNU6-396P	CpG island
DIP2A	CpG island
ENSG00000267416	chromatin interactions
ENSG00000223901	chromatin interactions
ENSG00000160305	chromatin interactions
ENSG00000160299	chromatin interactions
ENSG00000132341	chromatin interactions
ENSG00000225043	chromatin interactions
ENSG00000198087	chromatin interactions
ENSG00000068097	chromatin interactions
ENSG00000170345	chromatin interactions
ENSG00000144824	chromatin interactions
ENSG00000169504	chromatin interactions
ENSG00000160310	chromatin interactions
ENSG00000260267	chromatin interactions
ENSG00000160294	chromatin interactions
ENSG00000138629	chromatin interactions
ENSG00000215424	chromatin interactions
ENSG00000272283	chromatin interactions
ENSG00000201524	chromatin interactions
ENSG00000247240	chromatin interactions
ENSG00000160298	chromatin interactions
ENSG00000182362	chromatin interactions
ENSG00000202239	chromatin interactions
ENSG00000160307	chromatin interactions
ENSG00000223692	chromatin interactions
ENSG00000197837	chromatin interactions
ENSG00000160285	chromatin interactions
ENSG00000140691	chromatin interactions
B3GNT5	miRNA target sites
TNPO1	miRNA target sites
GABARAPL1	miRNA target sites

Extended variants
information (count: 4284 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:4284 , 50 per page) page: 1 2 3 4 5 6 7 ... 86

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536263723	chr21:47875375-47875376	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
2	rs555004880	chr21:47875422-47875423	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
3	rs573002913	chr21:47875463-47875464	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
4	rs577053963	chr21:47875465-47875466	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
5	rs142366838	chr21:47875510-47875511	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
6	rs558322388	chr21:47875563-47875564	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
7	rs185053417	chr21:47875576-47875577	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
8	rs150847675	chr21:47875589-47875590	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
9	rs562662531	chr21:47875650-47875651	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
10	rs150041567	chr21:47875676-47875677	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
11	rs541472746	chr21:47875703-47875704	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
12	rs552754921	chr21:47875728-47875729	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
13	rs560138481	chr21:47875821-47875822	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
14	rs190693162	chr21:47875830-47875831	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
15	rs78034546	chr21:47875838-47875839	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	mRNA abundance
16	rs552335614	chr21:47875865-47875866	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
17	rs565457507	chr21:47875875-47875876	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
18	rs77917254	chr21:47875893-47875894	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	mRNA abundance
19	rs551219203	chr21:47875894-47875895	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
20	rs569458208	chr21:47875989-47875990	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
21	rs372208363	chr21:47876018-47876019	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
22	rs371116069	chr21:47876040-47876041	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
23	rs536600536	chr21:47876081-47876082	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
24	rs548290779	chr21:47876083-47876084	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
25	rs181944223	chr21:47876100-47876101	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
26	rs73381189	chr21:47876117-47876118	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs534015416	chr21:47876124-47876125	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
28	rs186096741	chr21:47876132-47876133	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
29	rs112600016	chr21:47876133-47876134	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
30	rs537660929	chr21:47876167-47876168	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
31	rs556384317	chr21:47876179-47876180	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
32	rs543447790	chr21:47876270-47876271	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
33	rs147707495	chr21:47876279-47876280	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
34	rs542146020	chr21:47876292-47876293	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
35	rs553786788	chr21:47876319-47876320	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
36	rs181351035	chr21:47876372-47876373	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
37	rs185377011	chr21:47876388-47876389	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
38	rs564183285	chr21:47876396-47876397	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
39	rs532709002	chr21:47876406-47876407	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
40	rs544480189	chr21:47876437-47876438	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
41	rs111399525	chr21:47876467-47876468	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
42	rs530320833	chr21:47876491-47876492	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
43	rs548899949	chr21:47876507-47876508	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
44	rs190628310	chr21:47876574-47876575	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
45	rs527704189	chr21:47876592-47876593	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
46	rs532701529	chr21:47876610-47876611	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
47	rs75725404	chr21:47876623-47876624	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
48	rs537999217	chr21:47876633-47876634	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
49	rs144918322	chr21:47876641-47876642	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
50	rs531066320	chr21:47876651-47876652	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 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:4331 , 50 per page) page: 1 2 3 4 5 6 7 ... 87

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47845600-47877400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr21:47851000-47876000	Weak transcription	Small Intestine	intestine
3	chr21:47858400-47877400	Weak transcription	Stomach Mucosa	stomach
4	chr21:47862000-47876800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr21:47862400-47876200	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr21:47863000-47877200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr21:47863200-47876600	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr21:47863200-47877200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr21:47864000-47875600	Weak transcription	Esophagus	oesophagus
10	chr21:47864400-47875400	Weak transcription	NHLF	lung
11	chr21:47864600-47877800	Weak transcription	Aorta	Aorta
12	chr21:47864800-47875800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr21:47865400-47876200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr21:47866000-47877200	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr21:47866400-47875800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr21:47866400-47876200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr21:47867400-47875400	Weak transcription	Fetal Lung	lung
18	chr21:47869800-47875600	Weak transcription	Duodenum Mucosa	Duodenum
19	chr21:47869800-47876400	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr21:47870000-47875800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr21:47870000-47877200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr21:47870200-47877200	Weak transcription	Brain Germinal Matrix	brain
23	chr21:47870200-47877400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr21:47870200-47877400	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr21:47870400-47875600	Weak transcription	Fetal Stomach	stomach
26	chr21:47871000-47875400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr21:47871400-47876200	Strong transcription	Primary T cells from cord blood	blood
28	chr21:47871800-47875600	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr21:47871800-47877200	Weak transcription	Primary hematopoietic stem cells	blood
30	chr21:47872200-47875800	Enhancers	Fetal Heart	heart
31	chr21:47872200-47876800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr21:47872400-47876600	Weak transcription	Primary B cells from cord blood	blood
33	chr21:47872600-47875600	Weak transcription	Fetal Thymus	thymus
34	chr21:47872800-47877200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr21:47873000-47875400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr21:47873000-47875600	Weak transcription	Pancreas	Pancrea
37	chr21:47873000-47875600	Weak transcription	Spleen	Spleen
38	chr21:47873000-47877200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr21:47873200-47876800	Weak transcription	Ovary	ovary
40	chr21:47873200-47877000	Weak transcription	Fetal Brain Female	brain
41	chr21:47873400-47875600	Weak transcription	Fetal Intestine Small	intestine
42	chr21:47873400-47875600	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr21:47873400-47875600	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr21:47873400-47876200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr21:47873400-47877000	Weak transcription	Thymus	Thymus
46	chr21:47873400-47877400	Weak transcription	Fetal Kidney	kidney
47	chr21:47873600-47876200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr21:47873800-47875800	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr21:47873800-47876000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr21:47873800-47877400	Enhancers	Brain Substantia Nigra	brain

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