Variant report

Variant	nsv892174
Chromosome Location	chr9:6672097-6701530
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1242)
CpG islands
(count:488)
Chromatin interactive
region (count:89)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1242 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:6683465-6683727	K562	blood:	n/a	n/a
2	ARID3A	chr9:6680666-6681844	HepG2	liver:	n/a	n/a
3	ARID3A	chr9:6673778-6673994	HepG2	liver:	n/a	n/a
4	ATF1	chr9:6683332-6683728	K562	blood:	n/a	n/a
5	ATF1	chr9:6681148-6681907	K562	blood:	n/a	n/a
6	ATF2	chr9:6680648-6682329	GM12878	blood:	n/a	n/a
7	ATF2	chr9:6681171-6681904	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr9:6683093-6683781	GM12878	blood:	n/a	n/a
9	ATF2	chr9:6680771-6682208	GM12878	blood:	n/a	n/a
10	ATF2	chr9:6680902-6681966	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF2	chr9:6683034-6683764	GM12878	blood:	n/a	n/a
12	ATF2	chr9:6689798-6690646	GM12878	blood:	n/a	n/a
13	ATF2	chr9:6673244-6673922	GM12878	blood:	n/a	n/a
14	ATF3	chr9:6681031-6681807	A549	lung:	n/a	chr9:6681281-6681290 chr9:6681270-6681290 chr9:6681721-6681741
15	ATF3	chr9:6681111-6681416	H1-hESC	embryonic stem cell:	n/a	chr9:6681281-6681290 chr9:6681270-6681290
16	ATF3	chr9:6681128-6681460	HepG2	liver:	n/a	chr9:6681281-6681290 chr9:6681270-6681290
17	ATF3	chr9:6681561-6681854	K562	blood:	n/a	chr9:6681721-6681741
18	ATF3	chr9:6681132-6681923	A549	lung:	n/a	chr9:6681281-6681290 chr9:6681270-6681290 chr9:6681721-6681741
19	ATF3	chr9:6681099-6681405	GM12878	blood:	n/a	chr9:6681281-6681290 chr9:6681270-6681290
20	ATF3	chr9:6681117-6681516	K562	blood:	n/a	chr9:6681281-6681290 chr9:6681270-6681290
21	ATF3	chr9:6680937-6681651	GM12878	blood:	n/a	chr9:6681281-6681290 chr9:6681270-6681290
22	BACH1	chr9:6684511-6684834	H1-hESC	embryonic stem cell:	n/a	n/a
23	BACH1	chr9:6680705-6681903	H1-hESC	embryonic stem cell:	n/a	n/a
24	BATF	chr9:6683125-6683562	GM12878	blood:	n/a	n/a
25	BATF	chr9:6683124-6683704	GM12878	blood:	n/a	n/a
26	BATF	chr9:6681559-6681850	GM12878	blood:	n/a	n/a
27	BCL11A	chr9:6683034-6683594	GM12878	blood:	n/a	n/a
28	BCL11A	chr9:6689923-6690208	GM12878	blood:	n/a	n/a
29	BCL11A	chr9:6673323-6673715	GM12878	blood:	n/a	n/a
30	BCL11A	chr9:6683109-6683435	GM12878	blood:	n/a	n/a
31	BCL11A	chr9:6673395-6673768	GM12878	blood:	n/a	n/a
32	BCL3	chr9:6683093-6683628	GM12878	blood:	n/a	n/a
33	BCL3	chr9:6680326-6681960	A549	lung:	n/a	chr9:6681460-6681469 chr9:6681205-6681218
34	BCL3	chr9:6680653-6681964	A549	lung:	n/a	chr9:6681460-6681469 chr9:6681205-6681218
35	BCL3	chr9:6680846-6682117	GM12878	blood:	n/a	chr9:6681460-6681469 chr9:6681205-6681218
36	BCLAF1	chr9:6680560-6682062	GM12878	blood:	n/a	chr9:6681460-6681469 chr9:6681205-6681218
37	BCLAF1	chr9:6683101-6683639	GM12878	blood:	n/a	n/a
38	BCLAF1	chr9:6689853-6690393	GM12878	blood:	n/a	n/a
39	BCLAF1	chr9:6686346-6686825	GM12878	blood:	n/a	n/a
40	BCLAF1	chr9:6690587-6691086	GM12878	blood:	n/a	n/a
41	BCLAF1	chr9:6683076-6683830	GM12878	blood:	n/a	n/a
42	BCLAF1	chr9:6682559-6682960	GM12878	blood:	n/a	n/a
43	BCLAF1	chr9:6680608-6682041	GM12878	blood:	n/a	chr9:6681460-6681469 chr9:6681205-6681218
44	BHLHE40	chr9:6673357-6673800	GM12878	blood:	n/a	n/a
45	BHLHE40	chr9:6689979-6690277	GM12878	blood:	n/a	n/a
46	BHLHE40	chr9:6680676-6682005	K562	blood:	n/a	chr9:6681279-6681292 chr9:6681281-6681290 chr9:6681275-6681296 chr9:6681282-6681291 chr9:6681281-6681290 chr9:6681364-6681380 chr9:6681280-6681289
47	BHLHE40	chr9:6683422-6683723	K562	blood:	n/a	n/a
48	BHLHE40	chr9:6680733-6681999	GM12878	blood:	n/a	chr9:6681279-6681292 chr9:6681281-6681290 chr9:6681275-6681296 chr9:6681282-6681291 chr9:6681281-6681290 chr9:6681364-6681380 chr9:6681280-6681289
49	BHLHE40	chr9:6680702-6681933	HepG2	liver:	n/a	chr9:6681279-6681292 chr9:6681281-6681290 chr9:6681275-6681296 chr9:6681282-6681291 chr9:6681281-6681290 chr9:6681364-6681380 chr9:6681280-6681289
50	BHLHE40	chr9:6676401-6676848	GM12878	blood:	n/a	n/a

(count:488 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:6680923-6680973	HRCEpiC	kidney:	n/a
2	chr9:6680923-6680973	HCF	heart:	n/a
3	chr9:6680800-6680850	GM12891	blood:	n/a
4	chr9:6681608-6681658	A549	lung:	n/a
5	chr9:6681415-6681465	HUVEC	blood vessel:	n/a
6	chr9:6681608-6681658	HMEC	breast:	n/a
7	chr9:6681415-6681465	AoSMC	blood vessel:	n/a
8	chr9:6681608-6681658	ProgFib	skin:	n/a
9	chr9:6681415-6681465	GM12892	blood:	n/a
10	chr9:6700000-6700050	Jurkat	blood:	n/a
11	chr9:6681608-6681658	HCM	heart:	n/a
12	chr9:6700000-6700050	SK-N-SH_RA	brain:	n/a
13	chr9:6680800-6680850	HIPEpiC	eye:	n/a
14	chr9:6681559-6681609	AG09309	skin:	n/a
15	chr9:6681415-6681465	SK-N-SH_RA	brain:	n/a
16	chr9:6681415-6681465	MCF10A-Er-Src	breast:	n/a
17	chr9:6680923-6680973	H1-hESC	embryonic stem cell:	embryo
18	chr9:6681415-6681465	SKMC	muscle:	n/a
19	chr9:6681559-6681609	GM06990	blood:	n/a
20	chr9:6681608-6681658	HNPCEpiC	eye:	n/a
21	chr9:6681608-6681658	NH-A	brain:	n/a
22	chr9:6681415-6681465	Jurkat	blood:	n/a
23	chr9:6681415-6681465	IMR90	lung:	fetal
24	chr9:6681559-6681609	GM19239	blood:	n/a
25	chr9:6680932-6680982	HEK293	kidney:	embryo
26	chr9:6700000-6700050	Hepatocyte	liver:	n/a
27	chr9:6700000-6700050	NH-A	brain:	n/a
28	chr9:6680800-6680850	SKMC	muscle:	n/a
29	chr9:6680932-6680982	A549	lung:	n/a
30	chr9:6683274-6683324	HRE	kidney:	n/a
31	chr9:6680800-6680850	BE2_C	brain:	n/a
32	chr9:6681559-6681609	ovcar-3	ovarian:	n/a
33	chr9:6680923-6680973	PANC-1	pancreas:	n/a
34	chr9:6683274-6683324	NHBE	bronchial:	n/a
35	chr9:6681559-6681609	AG04449	skin:	fetal
36	chr9:6681608-6681658	IMR90	lung:	fetal
37	chr9:6680800-6680850	HMEC	breast:	n/a
38	chr9:6680800-6680850	A549	lung:	n/a
39	chr9:6700000-6700050	MCF-7	breast:	n/a
40	chr9:6680932-6680982	HCF	heart:	n/a
41	chr9:6680800-6680850	T-47D	breast:	n/a
42	chr9:6680800-6680850	GM19239	blood:	n/a
43	chr9:6680923-6680973	Caco-2	colon:	n/a
44	chr9:6680923-6680973	AG09309	skin:	n/a
45	chr9:6681608-6681658	K562	blood:	n/a
46	chr9:6680800-6680850	MCF10A-Er-Src	breast:	n/a
47	chr9:6680800-6680850	AoSMC	blood vessel:	n/a
48	chr9:6680923-6680973	HCT-116	colon:	n/a
49	chr9:6681608-6681658	HCPEpiC	choroid plexus:	n/a
50	chr9:6680923-6680973	HAEpiC	amniotic membrane:	n/a

(count:89 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr17:57916861..57918558-chr9:6681283..6683032,2	MCF-7	breast:
2	chr9:6698340..6700152-chr9:6701946..6704339,2	MCF-7	breast:
3	chr9:6352849..6355311-chr9:6679612..6682199,2	MCF-7	breast:
4	chr9:6680768..6683764-chr9:6756005..6759658,4	MCF-7	breast:
5	chr9:6679734..6682958-chr9:6730915..6733550,3	MCF-7	breast:
6	chr9:6674752..6678702-chr9:6679022..6682873,7	K562	blood:
7	chr7:148892469..148893164-chr9:6680524..6681026,2	NB4	blood:
8	chr9:6661026..6667542-chr9:6678514..6683695,9	MCF-7	breast:
9	chr1:115053255..115053998-chr9:6681371..6681985,2	NB4	blood:
10	chr9:6588736..6590830-chr9:6680231..6682699,2	MCF-7	breast:
11	chr11:111895384..111895991-chr9:6681315..6682181,2	Hela-S3	cervix:
12	chr9:6684635..6686737-chr9:6757059..6759167,2	MCF-7	breast:
13	chr11:118991755..118992281-chr9:6681143..6681754,2	NB4	blood:
14	chr9:6680103..6682666-chr9:6784102..6786978,2	K562	blood:
15	chr9:5627146..5630018-chr9:6679826..6681382,2	K562	blood:
16	chr9:6693828..6696318-chr9:6715075..6717694,2	MCF-7	breast:
17	chr9:6533272..6535800-chr9:6681069..6683891,2	K562	blood:
18	chr9:6681605..6682369-chrX:131157077..131157782,2	Hela-S3	cervix:
19	chr17:7834821..7835603-chr9:6681148..6681758,2	NB4	blood:
20	chr9:6680134..6683245-chr9:6684622..6687341,3	K562	blood:
21	chr9:6680087..6683627-chr9:6714158..6717601,7	MCF-7	breast:
22	chr9:6680773..6682962-chr9:6702713..6705458,5	MCF-7	breast:
23	chr9:6680639..6682955-chr9:6686831..6689135,2	MCF-7	breast:
24	chr13:52026416..52027352-chr9:6680809..6681352,2	NB4	blood:
25	chr2:192542408..192543057-chr9:6680954..6681934,2	NB4	blood:
26	chr9:6680669..6682912-chr9:6702581..6705387,2	MCF-7	breast:
27	chr9:6672368..6674682-chr9:6676645..6678823,3	MCF-7	breast:
28	chr5:122758681..122759560-chr9:6680956..6681952,3	NB4	blood:
29	chr9:6411239..6413842-chr9:6680405..6682367,2	MCF-7	breast:
30	chr9:6681451..6683371-chr9:6705864..6707945,2	MCF-7	breast:
31	chr9:6690536..6693350-chr9:6698647..6700189,2	MCF-7	breast:
32	chr9:6624229..6626158-chr9:6679853..6681433,2	MCF-7	breast:
33	chr18:812828..813642-chr9:6680571..6681106,2	NB4	blood:
34	chr9:6681100..6681879-chrX:153626091..153627039,2	NB4	blood:
35	chr9:6682207..6684667-chr9:6707689..6709841,2	K562	blood:
36	chr9:6681473..6683386-chr9:6714578..6718490,5	MCF-7	breast:
37	chr9:6680283..6682960-chr9:6684797..6686808,2	MCF-7	breast:
38	chr9:6623651..6625727-chr9:6679924..6681530,2	MCF-7	breast:
39	chr16:2524772..2525666-chr9:6680779..6681752,2	NB4	blood:
40	chr9:6674523..6677794-chr9:6679022..6682789,5	K562	blood:
41	chr9:6679611..6682734-chr9:6683304..6686457,4	MCF-7	breast:
42	chr9:6690617..6692723-chr9:6701607..6704265,2	MCF-7	breast:
43	chr9:6615911..6617907-chr9:6681150..6682978,2	MCF-7	breast:
44	chr9:6645871..6648933-chr9:6680309..6682972,3	MCF-7	breast:
45	chr9:6669357..6672334-chr9:6679173..6682127,3	MCF-7	breast:
46	chr9:6685820..6688107-chr9:6699923..6703311,3	MCF-7	breast:
47	chr2:232530459..232531365-chr9:6680756..6681601,2	Hela-S3	cervix:
48	chr12:56320720..56321452-chr9:6681130..6681988,2	NB4	blood:
49	chr15:65596841..65597490-chr9:6680775..6681724,2	NB4	blood:
50	chr19:42363580..42364427-chr9:6681324..6682242,2	NB4	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KDM4C-12	chr9:6675284-6675614	NONHSAT130149
2	lnc-KDM4C-11	chr9:6694471-6694653	NONHSAT130150
3	lnc-KDM4C-11	chr9:6697542-6697780	NONHSAT130150

No data

Variant related genes	Relation type
RNF2P1	TF binding region
ENSG00000229611	TF binding region
ENSG00000232946	TF binding region
RNF2P1	CpG island
ENSG00000229611	CpG island
ENSG00000232946	CpG island
ENSG00000102786	chromatin interactions
ENSG00000105327	chromatin interactions
ENSG00000105372	chromatin interactions
ENSG00000200156	chromatin interactions
ENSG00000150753	chromatin interactions
ENSG00000178445	chromatin interactions
ENSG00000161847	chromatin interactions
ENSG00000162065	chromatin interactions
ENSG00000051009	chromatin interactions
ENSG00000236924	chromatin interactions
ENSG00000231381	chromatin interactions
ENSG00000232946	chromatin interactions
ENSG00000147854	chromatin interactions
ENSG00000266863	chromatin interactions
ENSG00000229611	chromatin interactions
ENSG00000206147	chromatin interactions
ENSG00000117308	chromatin interactions
ENSG00000132259	chromatin interactions
ENSG00000236778	chromatin interactions
ENSG00000177426	chromatin interactions
ENSG00000150768	chromatin interactions
ENSG00000225489	chromatin interactions
ENSG00000107077	chromatin interactions
ENSG00000160271	chromatin interactions
ENSG00000101220	chromatin interactions
ENSG00000170473	chromatin interactions
ENSG00000273382	chromatin interactions
ENSG00000215717	chromatin interactions
ENSG00000072210	chromatin interactions
ENSG00000107036	chromatin interactions
ENSG00000147403	chromatin interactions
ENSG00000165115	chromatin interactions
ENSG00000229057	chromatin interactions
ENSG00000170037	chromatin interactions
ENSG00000173559	chromatin interactions
ENSG00000197323	chromatin interactions
ENSG00000134602	chromatin interactions
ENSG00000170265	chromatin interactions
ENSG00000273355	chromatin interactions
ENSG00000272426	chromatin interactions
ENSG00000168944	chromatin interactions
ENSG00000079999	chromatin interactions
ENSG00000065357	chromatin interactions
ENSG00000150756	chromatin interactions
ENSG00000170043	chromatin interactions

Extended variants
information (count: 1551 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:1551 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1658957	chr9:6672097-6672098	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs368479402	chr9:6672112-6672113	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs575542987	chr9:6672118-6672119	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs550980270	chr9:6672124-6672125	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs542833356	chr9:6672128-6672129	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs554949201	chr9:6672151-6672152	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs573124455	chr9:6672188-6672189	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs540230097	chr9:6672192-6672193	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs144963716	chr9:6672230-6672231	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs532253959	chr9:6672239-6672240	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs7039411	chr9:6672263-6672264	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs7853359	chr9:6672268-6672269	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs530273386	chr9:6672270-6672271	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs548374407	chr9:6672282-6672283	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs566827586	chr9:6672292-6672293	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs7866717	chr9:6672325-6672326	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs369043983	chr9:6672335-6672336	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs113071241	chr9:6672337-6672338	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs183175921	chr9:6672341-6672342	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs142085264	chr9:6672345-6672346	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs536802957	chr9:6672354-6672355	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs375434217	chr9:6672355-6672356	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs568562811	chr9:6672431-6672432	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs572247042	chr9:6672469-6672470	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs554761855	chr9:6672516-6672517	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs573187835	chr9:6672551-6672552	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs540126894	chr9:6672580-6672581	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs540831384	chr9:6672590-6672591	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs186487772	chr9:6672623-6672624	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs145920411	chr9:6672652-6672653	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs373178183	chr9:6672689-6672690	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs532836398	chr9:6672708-6672709	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs111331459	chr9:6672709-6672710	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs368845645	chr9:6672710-6672711	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs544189254	chr9:6672715-6672716	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs79338814	chr9:6672722-6672723	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs371647718	chr9:6672732-6672733	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs191472081	chr9:6672734-6672735	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs138834173	chr9:6672736-6672737	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs112436656	chr9:6672742-6672743	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs12343774	chr9:6672829-6672830	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs374663002	chr9:6672848-6672849	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs12343778	chr9:6672860-6672861	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs531655885	chr9:6672872-6672873	Weak transcription Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
45	rs550152671	chr9:6672877-6672878	Weak transcription Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
46	rs568575209	chr9:6672880-6672881	Weak transcription Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
47	rs12342739	chr9:6672893-6672894	Weak transcription Strong transcription Enhancers	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs554823366	chr9:6672894-6672895	Weak transcription Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
49	rs182162507	chr9:6672926-6672927	Weak transcription Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
50	rs533976004	chr9:6672950-6672951	Weak transcription Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:105)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Intracranial aneurysm	16715129	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Disorders of sex development	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Sudden cardiac death	19188705	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21952639	CNVD
Disorders of sex development	21048976	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
abnormal development	18461090	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Melanoma	18172304	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Developmental delay	21147756	CNVD
Lung cancer	18438408	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Metastatic melanoma	18483359	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Medulloblastoma	16783165	CNVD
Dyslexia	22102821	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Schizophrenia	21346763	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:756 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:6648400-6680400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr9:6648600-6677600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr9:6648600-6680400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr9:6648800-6680400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr9:6657200-6680400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr9:6657400-6680400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr9:6657400-6680400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr9:6664600-6680600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr9:6664800-6680000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr9:6665200-6677800	Weak transcription	Placenta	Placenta
11	chr9:6665400-6677800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr9:6666200-6673000	Weak transcription	A549	lung
13	chr9:6667800-6680400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr9:6669400-6672400	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr9:6669400-6675600	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr9:6670000-6680400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr9:6670600-6673200	Enhancers	GM12878-XiMat	blood
18	chr9:6670600-6680000	Enhancers	Liver	Liver
19	chr9:6670600-6680400	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr9:6670800-6680600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr9:6671400-6680000	Enhancers	HepG2	liver
22	chr9:6671600-6673600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr9:6672000-6680400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr9:6672400-6680400	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr9:6672600-6674000	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr9:6673000-6673200	Genic enhancers	A549	lung
27	chr9:6673200-6673800	Flanking Active TSS	GM12878-XiMat	blood
28	chr9:6673200-6674000	Flanking Active TSS	A549	lung
29	chr9:6673600-6674000	Enhancers	Stomach Mucosa	stomach
30	chr9:6673600-6680400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr9:6673800-6674000	Enhancers	GM12878-XiMat	blood
32	chr9:6674000-6680000	Weak transcription	GM12878-XiMat	blood
33	chr9:6674000-6680400	Weak transcription	A549	lung
34	chr9:6675600-6680400	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr9:6677600-6677800	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr9:6677800-6678200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr9:6677800-6678400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr9:6677800-6678400	Enhancers	Placenta	Placenta
39	chr9:6677800-6680400	Weak transcription	Fetal Brain Male	brain
40	chr9:6678200-6678400	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr9:6678400-6680400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr9:6678400-6680600	Weak transcription	Placenta	Placenta
43	chr9:6678400-6680800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr9:6679800-6680000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr9:6679800-6680200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr9:6679800-6680400	Enhancers	Dnd41	blood
47	chr9:6680000-6680200	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr9:6680000-6680200	Flanking Active TSS	HepG2	liver
49	chr9:6680000-6680400	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr9:6680000-6680400	Enhancers	Primary B cells from cord blood	blood

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