Variant report

Variant	nsv1001681
Chromosome Location	chr1:220425057-220548325
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2365)
CpG islands
(count:1467)
Chromatin interactive
region (count:98)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2365 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:220473586-220474394	K562	blood:	n/a	n/a
2	ARID3A	chr1:220469665-220469891	K562	blood:	n/a	n/a
3	ARID3A	chr1:220510642-220510870	HepG2	liver:	n/a	n/a
4	ARID3A	chr1:220445785-220446235	HepG2	liver:	n/a	n/a
5	ATF1	chr1:220448564-220448666	K562	blood:	n/a	n/a
6	ATF1	chr1:220510622-220510642	K562	blood:	n/a	n/a
7	ATF1	chr1:220461051-220461170	K562	blood:	n/a	n/a
8	ATF1	chr1:220486334-220486396	K562	blood:	n/a	n/a
9	ATF1	chr1:220454480-220454743	K562	blood:	n/a	n/a
10	ATF1	chr1:220445592-220446323	K562	blood:	n/a	n/a
11	ATF1	chr1:220473695-220474443	K562	blood:	n/a	n/a
12	ATF2	chr1:220511946-220512757	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF2	chr1:220445529-220446331	GM12878	blood:	n/a	n/a
14	ATF2	chr1:220473734-220474120	H1-hESC	embryonic stem cell:	n/a	n/a
15	ATF2	chr1:220518023-220518500	GM12878	blood:	n/a	n/a
16	ATF2	chr1:220445308-220446015	GM12878	blood:	n/a	n/a
17	ATF2	chr1:220511977-220512423	H1-hESC	embryonic stem cell:	n/a	n/a
18	ATF2	chr1:220518033-220518473	GM12878	blood:	n/a	n/a
19	ATF2	chr1:220541823-220542131	GM12878	blood:	n/a	n/a
20	ATF2	chr1:220473737-220474096	H1-hESC	embryonic stem cell:	n/a	n/a
21	ATF2	chr1:220469536-220469868	H1-hESC	embryonic stem cell:	n/a	n/a
22	ATF3	chr1:220445597-220446153	GM12878	blood:	n/a	chr1:220445887-220445896 chr1:220445876-220445896 chr1:220445871-220445880 chr1:220445887-220445907
23	ATF3	chr1:220445687-220446101	HepG2	liver:	n/a	chr1:220445887-220445896 chr1:220445876-220445896 chr1:220445871-220445880 chr1:220445887-220445907
24	ATF3	chr1:220473816-220474086	K562	blood:	n/a	n/a
25	ATF3	chr1:220445665-220446028	H1-hESC	embryonic stem cell:	n/a	chr1:220445887-220445896 chr1:220445876-220445896 chr1:220445871-220445880 chr1:220445887-220445907
26	ATF3	chr1:220445643-220446086	H1-hESC	embryonic stem cell:	n/a	chr1:220445887-220445896 chr1:220445876-220445896 chr1:220445871-220445880 chr1:220445887-220445907
27	ATF3	chr1:220473696-220474383	K562	blood:	n/a	n/a
28	ATF3	chr1:220445627-220446176	HepG2	liver:	n/a	chr1:220445887-220445896 chr1:220445876-220445896 chr1:220445871-220445880 chr1:220445887-220445907
29	ATF3	chr1:220445443-220445972	A549	lung:	n/a	chr1:220445887-220445896 chr1:220445876-220445896 chr1:220445871-220445880 chr1:220445887-220445907
30	ATF3	chr1:220445543-220446029	K562	blood:	n/a	chr1:220445887-220445896 chr1:220445876-220445896 chr1:220445871-220445880 chr1:220445887-220445907
31	ATF3	chr1:220445725-220445969	GM12878	blood:	n/a	chr1:220445887-220445896 chr1:220445876-220445896 chr1:220445871-220445880 chr1:220445887-220445907
32	BACH1	chr1:220445549-220445942	H1-hESC	embryonic stem cell:	n/a	n/a
33	BACH1	chr1:220441013-220441325	K562	blood:	n/a	n/a
34	BACH1	chr1:220474113-220474366	K562	blood:	n/a	n/a
35	BACH1	chr1:220441007-220441338	H1-hESC	embryonic stem cell:	n/a	n/a
36	BATF	chr1:220518068-220518471	GM12878	blood:	n/a	chr1:220518283-220518294
37	BATF	chr1:220537571-220537839	GM12878	blood:	n/a	n/a
38	BATF	chr1:220517050-220517293	GM12878	blood:	n/a	chr1:220517163-220517174 chr1:220517164-220517174
39	BATF	chr1:220428578-220428814	GM12878	blood:	n/a	n/a
40	BATF	chr1:220510550-220510881	GM12878	blood:	n/a	n/a
41	BATF	chr1:220518186-220518442	GM12878	blood:	n/a	chr1:220518283-220518294
42	BCL11A	chr1:220518095-220518446	GM12878	blood:	n/a	n/a
43	BCL11A	chr1:220518044-220518506	GM12878	blood:	n/a	n/a
44	BCL3	chr1:220518067-220518420	GM12878	blood:	n/a	n/a
45	BCL3	chr1:220445277-220446243	A549	lung:	n/a	chr1:220445902-220445915 chr1:220445901-220445910 chr1:220445426-220445435
46	BCLAF1	chr1:220541760-220542005	GM12878	blood:	n/a	n/a
47	BCLAF1	chr1:220445346-220446192	GM12878	blood:	n/a	chr1:220445902-220445915 chr1:220445901-220445910 chr1:220445426-220445435
48	BHLHE40	chr1:220445414-220446198	HepG2	liver:	n/a	chr1:220445899-220445915 chr1:220445885-220445898 chr1:220445887-220445896 chr1:220445881-220445902 chr1:220445888-220445897 chr1:220445887-220445896 chr1:220445886-220445895
49	BHLHE40	chr1:220444930-220445139	K562	blood:	n/a	n/a
50	BHLHE40	chr1:220473636-220474479	K562	blood:	n/a	n/a

(count:1467 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:220446041-220446091	HRCEpiC	kidney:	n/a
2	chr1:220440947-220440997	NHDF-neo	bronchial:	n/a
3	chr1:220473634-220473684	HEK293	kidney:	embryo
4	chr1:220446041-220446091	HRCEpiC	kidney:	n/a
5	chr1:220440947-220440997	NHDF-neo	bronchial:	n/a
6	chr1:220473634-220473684	HEK293	kidney:	embryo
7	chr1:220536121-220536171	NHDF-neo	bronchial:	n/a
8	chr1:220448523-220448573	Caco-2	colon:	n/a
9	chr1:220445979-220446029	HPAEpiC	pulmonary alveolar:	n/a
10	chr1:220441596-220441646	HRE	kidney:	n/a
11	chr1:220526779-220526829	T-47D	breast:	n/a
12	chr1:220441256-220441306	HIPEpiC	eye:	n/a
13	chr1:220446043-220446093	A549	lung:	n/a
14	chr1:220470753-220470803	HRE	kidney:	n/a
15	chr1:220441256-220441306	GM12878	blood:	n/a
16	chr1:220446041-220446091	BJ	skin:	n/a
17	chr1:220441097-220441147	U87	brain:	n/a
18	chr1:220446194-220446244	SK-N-SH	brain:	n/a
19	chr1:220500857-220500907	NHBE	bronchial:	n/a
20	chr1:220445787-220445837	HAEpiC	amniotic membrane:	n/a
21	chr1:220445787-220445837	AG04449	skin:	fetal
22	chr1:220500857-220500907	MCF-7	breast:	n/a
23	chr1:220446043-220446093	NHDF-neo	bronchial:	n/a
24	chr1:220441256-220441306	SK-N-SH_RA	brain:	n/a
25	chr1:220441097-220441147	GM19239	blood:	n/a
26	chr1:220463627-220463677	BE2_C	brain:	n/a
27	chr1:220446118-220446168	SK-N-MC	brain:	n/a
28	chr1:220441596-220441646	ProgFib	skin:	n/a
29	chr1:220446041-220446091	MCF-7	breast:	n/a
30	chr1:220439792-220439842	ECC-1	luminal epithelium:	n/a
31	chr1:220440947-220440997	HUVEC	blood vessel:	n/a
32	chr1:220445750-220445800	GM12891	blood:	n/a
33	chr1:220446118-220446168	AG10803	skin:	n/a
34	chr1:220526779-220526829	PFSK-1	brain:	n/a
35	chr1:220445631-220445681	NT2-D1	testis:	n/a
36	chr1:220440947-220440997	PANC-1	pancreas:	n/a
37	chr1:220473634-220473684	RPTEC	kidney:	n/a
38	chr1:220445631-220445681	Hela-S3	cervix:	n/a
39	chr1:220445787-220445837	HRE	kidney:	n/a
40	chr1:220445979-220446029	HNPCEpiC	eye:	n/a
41	chr1:220446207-220446257	K562	blood:	n/a
42	chr1:220439792-220439842	HL-60	blood:	n/a
43	chr1:220448523-220448573	AG10803	skin:	n/a
44	chr1:220470753-220470803	Caco-2	colon:	n/a
45	chr1:220445787-220445837	T-47D	breast:	n/a
46	chr1:220446118-220446168	HEK293	kidney:	embryo
47	chr1:220441596-220441646	A549	lung:	n/a
48	chr1:220445631-220445681	IMR90	lung:	fetal
49	chr1:220473634-220473684	PrEC	prostate:	n/a
50	chr1:220500857-220500907	A549	lung:	n/a

(count:98 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:220538356..220540652-chr1:220543622..220545590,2	K562	blood:
2	chr1:220492579..220494999-chr1:220497676..220499408,2	MCF-7	breast:
3	chr1:220501802..220503799-chr1:220507368..220509036,2	MCF-7	breast:
4	chr1:220466641..220469132-chr1:220471949..220474218,2	K562	blood:
5	chr1:220454099..220454843-chr1:220906534..220907082,2	MCF-7	breast:
6	chr1:220469913..220472006-chr1:220498061..220500308,2	MCF-7	breast:
7	chr1:220510796..220512747-chr1:220514386..220517279,2	MCF-7	breast:
8	chr1:220503407..220505122-chr1:220514506..220516163,2	K562	blood:
9	chr1:220471708..220473237-chr1:220473384..220475197,2	K562	blood:
10	chr1:220471708..220473237-chr1:220473384..220475197,2	K562	blood:
11	chr1:220475375..220478534-chr1:220488140..220490851,3	K562	blood:
12	chr1:220536671..220538560-chr1:220540237..220541993,2	K562	blood:
13	chr1:220469478..220470085-chr1:220544313..220545123,2	MCF-7	breast:
14	chr1:220438275..220439851-chr1:220451270..220453670,2	K562	blood:
15	chr1:220415502..220418514-chr1:220424873..220426907,3	K562	blood:
16	chr1:220448590..220453578-chr1:220456317..220461314,5	K562	blood:
17	chr1:220449502..220452235-chr1:220455854..220457396,2	MCF-7	breast:
18	chr1:220437133..220439238-chr1:220458442..220459950,2	K562	blood:
19	chr1:28975066..28975586-chr1:220445322..220446174,2	NB4	blood:
20	chr1:220453040..220456116-chr1:220457163..220460611,3	K562	blood:
21	chr1:220454082..220455024-chr1:220714990..220715582,2	MCF-7	breast:
22	chr1:220445189..220446035-chr17:56736253..56736785,2	Hela-S3	cervix:
23	chr1:220445466..220447229-chr1:220473362..220475083,2	K562	blood:
24	chr1:220445957..220448646-chr1:220450817..220453082,3	K562	blood:
25	chr1:220512081..220514266-chr1:220519545..220521950,2	MCF-7	breast:
26	chr1:220505070..220506632-chr1:220508867..220511309,2	MCF-7	breast:
27	chr1:220448675..220450303-chr1:220450612..220453414,2	K562	blood:
28	chr1:220469478..220470085-chr1:220544313..220545123,2	MCF-7	breast:
29	chr1:220454114..220454784-chr1:220906119..220907075,3	K562	blood:
30	chr1:220503407..220505122-chr1:220514506..220516163,2	K562	blood:
31	chr1:220490409..220493296-chr1:220495769..220497672,3	K562	blood:
32	chr1:220491693..220493296-chr1:220495769..220497470,2	K562	blood:
33	chr1:220420506..220423214-chr1:220434683..220436632,3	K562	blood:
34	chr1:220396718..220399259-chr1:220445966..220447617,2	MCF-7	breast:
35	chr1:220445957..220448646-chr1:220450817..220453082,3	K562	blood:
36	chr1:220505070..220506632-chr1:220508867..220511309,2	MCF-7	breast:
37	chr1:220438275..220439851-chr1:220451270..220453670,2	K562	blood:
38	chr1:220529781..220531415-chr1:220536320..220538470,2	K562	blood:
39	chr1:220448675..220450303-chr1:220450612..220453414,2	K562	blood:
40	chr1:220510796..220512747-chr1:220514386..220517279,2	MCF-7	breast:
41	chr1:220440528..220443413-chr1:220443546..220445862,4	MCF-7	breast:
42	chr1:220512081..220514266-chr1:220519545..220521950,2	MCF-7	breast:
43	chr1:220437133..220439238-chr1:220458442..220459950,2	K562	blood:
44	chr1:220445870..220448039-chr1:220448307..220450938,3	K562	blood:
45	chr1:220454527..220455068-chr1:220853160..220854109,2	MCF-7	breast:
46	chr1:220454085..220454972-chr1:220949753..220950641,2	K562	blood:
47	chr1:220443856..220448650-chr1:220458115..220462715,5	K562	blood:
48	chr1:220391829..220392619-chr1:220454152..220454910,2	MCF-7	breast:
49	chr1:220517543..220520201-chr1:220523062..220524981,2	K562	blood:
50	chr1:220536671..220538560-chr1:220540237..220541993,2	K562	blood:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IARS2-4	chr1:220465208-220465239	NONHSAT009596
2	lnc-BPNT1-2	chr1:220439521-220441057	NONHSAT009594
3	lnc-IARS2-4	chr1:220462045-220462668	NONHSAT009596
4	lnc-AC096644.1-2	chr1:220533073-220533267	XLOC_001210
5	lnc-BPNT1-2	chr1:220445565-220445703	NONHSAT009593
6	lnc-BPNT1-2	chr1:220440048-220441259	NONHSAT009595
7	lnc-BPNT1-2	chr1:220439327-220441093	NONHSAT009593
8	lnc-AC096644.1-2	chr1:220533476-220533525	XLOC_001210

No data

Variant related genes	Relation type
AURKAPS1	TF binding region
RAB3GAP2	TF binding region
ENSG00000232883	TF binding region
XRCC6P3	TF binding region
ENSG00000226927	TF binding region
MORF4L1P1	TF binding region
AURKAPS1	CpG island
RAB3GAP2	CpG island
ENSG00000232883	CpG island
XRCC6P3	CpG island
ENSG00000226927	CpG island
MORF4L1P1	CpG island
ENSG00000230318	chromatin interactions
ENSG00000270103	chromatin interactions
ENSG00000232883	chromatin interactions
ENSG00000213033	chromatin interactions
ENSG00000160310	chromatin interactions
ENSG00000118873	chromatin interactions
ENSG00000202077	chromatin interactions

Extended variants
information (count: 4409 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:4409 , 50 per page) page: 1 2 3 4 5 6 7 ... 89

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187620612	chr1:220425079-220425080	ZNF genes & repeats Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs192844426	chr1:220425089-220425090	ZNF genes & repeats Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs539422255	chr1:220425112-220425113	ZNF genes & repeats Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs539898693	chr1:220425143-220425144	ZNF genes & repeats Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs559535432	chr1:220425144-220425145	ZNF genes & repeats Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs6702514	chr1:220425191-220425192	ZNF genes & repeats Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs368483816	chr1:220425219-220425220	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs111491881	chr1:220425223-220425224	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs150036155	chr1:220425234-220425235	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs374509549	chr1:220425268-220425269	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs552966149	chr1:220425289-220425290	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs551687646	chr1:220425330-220425331	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs184861691	chr1:220425380-220425381	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs530852128	chr1:220425429-220425430	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs2808010	chr1:220425435-220425436	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs145390187	chr1:220425468-220425469	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs369012599	chr1:220425494-220425495	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs36026793	chr1:220425495-220425496	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370077977	chr1:220425501-220425502	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536754911	chr1:220425511-220425512	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs58516168	chr1:220425512-220425513	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553471310	chr1:220425525-220425526	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs77080376	chr1:220425566-220425567	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538819322	chr1:220425587-220425588	ZNF genes & repeats Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs558617291	chr1:220425592-220425593	ZNF genes & repeats Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs188402995	chr1:220425600-220425601	ZNF genes & repeats Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs192121011	chr1:220425608-220425609	ZNF genes & repeats Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs184718379	chr1:220425616-220425617	ZNF genes & repeats Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs535775679	chr1:220425644-220425645	ZNF genes & repeats Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs149224897	chr1:220425687-220425688	ZNF genes & repeats Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs2667966	chr1:220425717-220425718	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs60555887	chr1:220425740-220425741	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs189286730	chr1:220425751-220425752	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539962922	chr1:220425762-220425763	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs2808011	chr1:220425790-220425791	ZNF genes & repeats Strong transcription Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs181956793	chr1:220425814-220425815	ZNF genes & repeats Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs112150003	chr1:220425880-220425881	ZNF genes & repeats Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs78315433	chr1:220425886-220425887	ZNF genes & repeats Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs75568528	chr1:220425894-220425895	ZNF genes & repeats Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs77770331	chr1:220425895-220425896	ZNF genes & repeats Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs565488955	chr1:220425898-220425899	ZNF genes & repeats Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs531242123	chr1:220425910-220425911	ZNF genes & repeats Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs7543828	chr1:220425914-220425915	ZNF genes & repeats Strong transcription Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs561285220	chr1:220425917-220425918	ZNF genes & repeats Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs368697982	chr1:220425920-220425921	ZNF genes & repeats Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs530093346	chr1:220425962-220425963	ZNF genes & repeats Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs543893622	chr1:220426009-220426010	Strong transcription ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs547148559	chr1:220426020-220426021	Strong transcription ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs79223330	chr1:220426022-220426023	Strong transcription ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs76981691	chr1:220426032-220426033	Strong transcription ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Autism	14699429	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Tetralogy of Fallot	22912587	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Medulloblastoma	21163964	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:1941 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220384200-220425800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:220393000-220441000	Weak transcription	NHDF-Ad	bronchial
3	chr1:220393800-220425800	Weak transcription	Gastric	stomach
4	chr1:220401000-220425200	Weak transcription	Right Ventricle	heart
5	chr1:220401600-220425800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr1:220406000-220425200	Weak transcription	HSMMtube	muscle
7	chr1:220413800-220425200	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr1:220416000-220442600	Weak transcription	Fetal Heart	heart
9	chr1:220418200-220431400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr1:220420000-220427000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:220420400-220425400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
12	chr1:220420400-220425400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
13	chr1:220420400-220426000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
14	chr1:220420400-220426000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
15	chr1:220420400-220426400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr1:220420400-220426600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:220420400-220426800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
18	chr1:220420400-220426800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
19	chr1:220420400-220427000	ZNF genes & repeats	GM12878-XiMat	blood
20	chr1:220420600-220427400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
21	chr1:220420800-220425400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
22	chr1:220421000-220436800	Weak transcription	Fetal Kidney	kidney
23	chr1:220421400-220425400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr1:220422000-220426000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
25	chr1:220422000-220427000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr1:220422200-220425400	ZNF genes & repeats	K562	blood
27	chr1:220422200-220426800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr1:220422200-220426800	ZNF genes & repeats	Dnd41	blood
29	chr1:220422400-220425200	ZNF genes & repeats	Primary T cells from cord blood	blood
30	chr1:220422600-220425400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
31	chr1:220422600-220426600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr1:220422600-220426800	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
33	chr1:220422800-220425400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr1:220422800-220425400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
35	chr1:220422800-220426400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:220423000-220443400	Weak transcription	Psoas Muscle	Psoas
37	chr1:220423200-220428200	Weak transcription	Stomach Mucosa	stomach
38	chr1:220423400-220425200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr1:220423400-220425200	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr1:220423400-220425800	Weak transcription	Brain Anterior Caudate	brain
41	chr1:220423400-220425800	Weak transcription	Small Intestine	intestine
42	chr1:220423400-220425800	Weak transcription	NH-A	brain
43	chr1:220423400-220426800	Strong transcription	Osteobl	bone
44	chr1:220423400-220427400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr1:220423400-220443400	Weak transcription	Brain Cingulate Gyrus	brain
46	chr1:220423400-220443400	Weak transcription	Rectal Smooth Muscle	rectum
47	chr1:220423600-220425200	Weak transcription	Liver	Liver
48	chr1:220423600-220425200	Weak transcription	Placenta	Placenta
49	chr1:220423600-220425200	Weak transcription	Fetal Stomach	stomach
50	chr1:220423600-220425200	Weak transcription	Left Ventricle	heart

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