Variant report

Variant	nsv1028863
Chromosome Location	chr9:6656619-6725007
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2328)
CpG islands
(count:1098)
Chromatin interactive
region (count:133)
LncRNA
region (count:50)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2328 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:6667709-6667966	K562	blood:	n/a	n/a
2	ARID3A	chr9:6673778-6673994	HepG2	liver:	n/a	n/a
3	ARID3A	chr9:6680666-6681844	HepG2	liver:	n/a	n/a
4	ARID3A	chr9:6714320-6714869	HepG2	liver:	n/a	n/a
5	ARID3A	chr9:6683465-6683727	K562	blood:	n/a	n/a
6	ARID3A	chr9:6667619-6667991	HepG2	liver:	n/a	n/a
7	ARID3A	chr9:6702813-6703015	K562	blood:	n/a	n/a
8	ARID3A	chr9:6664541-6665413	HepG2	liver:	n/a	n/a
9	ARID3A	chr9:6716174-6716454	HepG2	liver:	n/a	n/a
10	ATF1	chr9:6683332-6683728	K562	blood:	n/a	n/a
11	ATF1	chr9:6681148-6681907	K562	blood:	n/a	n/a
12	ATF2	chr9:6689798-6690646	GM12878	blood:	n/a	n/a
13	ATF2	chr9:6680648-6682329	GM12878	blood:	n/a	n/a
14	ATF2	chr9:6703874-6704656	H1-hESC	embryonic stem cell:	n/a	n/a
15	ATF2	chr9:6680902-6681966	H1-hESC	embryonic stem cell:	n/a	n/a
16	ATF2	chr9:6722741-6723673	GM12878	blood:	n/a	n/a
17	ATF2	chr9:6680771-6682208	GM12878	blood:	n/a	n/a
18	ATF2	chr9:6683093-6683781	GM12878	blood:	n/a	n/a
19	ATF2	chr9:6722727-6723186	GM12878	blood:	n/a	n/a
20	ATF2	chr9:6703375-6704596	GM12878	blood:	n/a	n/a
21	ATF2	chr9:6673244-6673922	GM12878	blood:	n/a	n/a
22	ATF2	chr9:6703839-6704309	GM12878	blood:	n/a	n/a
23	ATF2	chr9:6683034-6683764	GM12878	blood:	n/a	n/a
24	ATF2	chr9:6681171-6681904	H1-hESC	embryonic stem cell:	n/a	n/a
25	ATF2	chr9:6715890-6716329	GM12878	blood:	n/a	chr9:6716129-6716140
26	ATF2	chr9:6703987-6704605	H1-hESC	embryonic stem cell:	n/a	n/a
27	ATF2	chr9:6715844-6716527	GM12878	blood:	n/a	chr9:6716129-6716140
28	ATF3	chr9:6680937-6681651	GM12878	blood:	n/a	chr9:6681281-6681290 chr9:6681270-6681290
29	ATF3	chr9:6681099-6681405	GM12878	blood:	n/a	chr9:6681281-6681290 chr9:6681270-6681290
30	ATF3	chr9:6704051-6704512	A549	lung:	n/a	chr9:6704101-6704111
31	ATF3	chr9:6703937-6704598	GM12878	blood:	n/a	chr9:6703954-6703967 chr9:6704101-6704111
32	ATF3	chr9:6703940-6704551	HepG2	liver:	n/a	chr9:6703954-6703967 chr9:6704101-6704111
33	ATF3	chr9:6681117-6681516	K562	blood:	n/a	chr9:6681281-6681290 chr9:6681270-6681290
34	ATF3	chr9:6664488-6664934	A549	lung:	n/a	n/a
35	ATF3	chr9:6704052-6704432	HepG2	liver:	n/a	chr9:6704101-6704111
36	ATF3	chr9:6681111-6681416	H1-hESC	embryonic stem cell:	n/a	chr9:6681281-6681290 chr9:6681270-6681290
37	ATF3	chr9:6681561-6681854	K562	blood:	n/a	chr9:6681721-6681741
38	ATF3	chr9:6681128-6681460	HepG2	liver:	n/a	chr9:6681281-6681290 chr9:6681270-6681290
39	ATF3	chr9:6681031-6681807	A549	lung:	n/a	chr9:6681281-6681290 chr9:6681270-6681290 chr9:6681721-6681741
40	ATF3	chr9:6704072-6704352	GM12878	blood:	n/a	chr9:6704101-6704111
41	ATF3	chr9:6703972-6704567	H1-hESC	embryonic stem cell:	n/a	chr9:6704101-6704111
42	ATF3	chr9:6664294-6664873	A549	lung:	n/a	n/a
43	ATF3	chr9:6703946-6704478	A549	lung:	n/a	chr9:6703954-6703967 chr9:6704101-6704111
44	ATF3	chr9:6681132-6681923	A549	lung:	n/a	chr9:6681281-6681290 chr9:6681270-6681290 chr9:6681721-6681741
45	ATF3	chr9:6703900-6704493	H1-hESC	embryonic stem cell:	n/a	chr9:6703954-6703967 chr9:6704101-6704111
46	BACH1	chr9:6684511-6684834	H1-hESC	embryonic stem cell:	n/a	n/a
47	BACH1	chr9:6667638-6667964	H1-hESC	embryonic stem cell:	n/a	n/a
48	BACH1	chr9:6680705-6681903	H1-hESC	embryonic stem cell:	n/a	n/a
49	BACH1	chr9:6703514-6704556	H1-hESC	embryonic stem cell:	n/a	n/a
50	BATF	chr9:6656332-6656632	GM12878	blood:	n/a	n/a

(count:1098 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:6704574-6704624	SKMC	muscle:	n/a
2	chr9:6703605-6703655	SK-N-MC	brain:	n/a
3	chr9:6716007-6716057	SK-N-MC	brain:	n/a
4	chr9:6703605-6703655	HCT-116	colon:	n/a
5	chr9:6715032-6715082	HepG2	liver:	n/a
6	chr9:6716417-6716467	HCPEpiC	choroid plexus:	n/a
7	chr9:6703949-6703999	AG09319	gingival:	n/a
8	chr9:6716007-6716057	HepG2	liver:	n/a
9	chr9:6681608-6681658	SAEC	small airway:	n/a
10	chr9:6680932-6680982	HCM	heart:	n/a
11	chr9:6703605-6703655	Hepatocyte	liver:	n/a
12	chr9:6715032-6715082	GM12892	blood:	n/a
13	chr9:6706149-6706199	SKMC	muscle:	n/a
14	chr9:6706149-6706199	GM19239	blood:	n/a
15	chr9:6681415-6681465	ECC-1	luminal epithelium:	n/a
16	chr9:6707115-6707165	NT2-D1	testis:	n/a
17	chr9:6707115-6707165	GM06990	blood:	n/a
18	chr9:6681415-6681465	NB4	blood:	n/a
19	chr9:6704178-6704228	PANC-1	pancreas:	n/a
20	chr9:6716007-6716057	BJ	skin:	n/a
21	chr9:6680923-6680973	NT2-D1	testis:	n/a
22	chr9:6703605-6703655	H1-hESC	embryonic stem cell:	embryo
23	chr9:6704178-6704228	Hela-S3	cervix:	n/a
24	chr9:6703949-6703999	HCF	heart:	n/a
25	chr9:6716417-6716467	Hela-S3	cervix:	n/a
26	chr9:6703605-6703655	Jurkat	blood:	n/a
27	chr9:6706149-6706199	HCM	heart:	n/a
28	chr9:6716007-6716057	MCF-7	breast:	n/a
29	chr9:6703949-6703999	GM12892	blood:	n/a
30	chr9:6704574-6704624	HNPCEpiC	eye:	n/a
31	chr9:6683274-6683324	NB4	blood:	n/a
32	chr9:6716007-6716057	H1-hESC	embryonic stem cell:	embryo
33	chr9:6703605-6703655	Hela-S3	cervix:	n/a
34	chr9:6716417-6716467	HCM	heart:	n/a
35	chr9:6680932-6680982	NT2-D1	testis:	n/a
36	chr9:6681608-6681658	HCM	heart:	n/a
37	chr9:6715032-6715082	Hela-S3	cervix:	n/a
38	chr9:6707115-6707165	Jurkat	blood:	n/a
39	chr9:6716417-6716467	SKMC	muscle:	n/a
40	chr9:6703605-6703655	SK-N-SH	brain:	n/a
41	chr9:6716007-6716057	ovcar-3	ovarian:	n/a
42	chr9:6680923-6680973	CMK	blood:	n/a
43	chr9:6700000-6700050	HAEpiC	amniotic membrane:	n/a
44	chr9:6683274-6683324	IMR90	lung:	fetal
45	chr9:6703605-6703655	NT2-D1	testis:	n/a
46	chr9:6704574-6704624	HCT-116	colon:	n/a
47	chr9:6716417-6716467	HCT-116	colon:	n/a
48	chr9:6680800-6680850	GM12891	blood:	n/a
49	chr9:6703605-6703655	HL-60	blood:	n/a
50	chr9:6703605-6703655	AG10803	skin:	n/a

(count:133 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr9:6713012..6714984-chr9:6718479..6720574,2	K562	blood:
2	chr11:118991755..118992281-chr9:6681143..6681754,2	NB4	blood:
3	chr9:6638714..6640466-chr9:6681026..6683863,2	MCF-7	breast:
4	chr9:6685820..6688107-chr9:6699923..6703311,3	MCF-7	breast:
5	chr5:10249848..10250486-chr9:6680759..6681658,2	NB4	blood:
6	chr9:6679611..6682734-chr9:6683304..6686457,4	MCF-7	breast:
7	chr9:6579960..6582259-chr9:6679731..6681701,2	MCF-7	breast:
8	chr19:10443689..10444474-chr9:6681327..6681946,2	NB4	blood:
9	chr9:6654607..6656764-chr9:6663214..6664911,2	K562	blood:
10	chr9:6711589..6718151-chr9:6755774..6759657,12	MCF-7	breast:
11	chr9:6715258..6717463-chr9:6718537..6720528,2	MCF-7	breast:
12	chr2:32389334..32390859-chr9:6713099..6716031,2	MCF-7	breast:
13	chr15:65596841..65597490-chr9:6680775..6681724,2	NB4	blood:
14	chr17:57916861..57918558-chr9:6681283..6683032,2	MCF-7	breast:
15	chr9:6690536..6693350-chr9:6698647..6700189,2	MCF-7	breast:
16	chr9:6654607..6656764-chr9:6663214..6664911,2	K562	blood:
17	chr9:6588736..6590830-chr9:6680231..6682699,2	MCF-7	breast:
18	chr9:6722888..6726785-chr9:6754807..6757177,3	K562	blood:
19	chr9:6698340..6700152-chr9:6701946..6704339,2	MCF-7	breast:
20	chr9:6686168..6688293-chr9:6706461..6708275,2	MCF-7	breast:
21	chr9:6663029..6667664-chr9:6679639..6683357,9	MCF-7	breast:
22	chr1:100503108..100504085-chr9:6716038..6716673,2	NB4	blood:
23	chr9:6680639..6682955-chr9:6686831..6689135,2	MCF-7	breast:
24	chr20:3747959..3748789-chr9:6681040..6681979,2	NB4	blood:
25	chr9:6715258..6717463-chr9:6718537..6720528,2	MCF-7	breast:
26	chr9:6714309..6715981-chr9:6723655..6726584,2	MCF-7	breast:
27	chr9:6680669..6682912-chr9:6702581..6705387,2	MCF-7	breast:
28	chr9:6681473..6683386-chr9:6714578..6718490,5	MCF-7	breast:
29	chr9:6681100..6681879-chrX:153626091..153627039,2	NB4	blood:
30	chr9:6674752..6678702-chr9:6679022..6682873,7	K562	blood:
31	chr18:3449980..3450637-chr9:6680800..6681639,2	NB4	blood:
32	chr9:6680506..6681363-chrX:40943980..40944586,2	NB4	blood:
33	chr9:6665749..6668244-chr9:6673822..6675444,2	MCF-7	breast:
34	chr9:6639721..6642651-chr9:6680043..6682884,2	MCF-7	breast:
35	chr9:6615911..6617907-chr9:6681150..6682978,2	MCF-7	breast:
36	chr9:6624229..6626158-chr9:6679853..6681433,2	MCF-7	breast:
37	chr2:232530459..232531365-chr9:6680756..6681601,2	Hela-S3	cervix:
38	chr5:166255725..166256712-chr9:6703618..6704233,2	MCF-7	breast:
39	chr9:6693828..6696318-chr9:6715075..6717694,2	MCF-7	breast:
40	chr9:6663029..6667664-chr9:6679639..6683357,9	MCF-7	breast:
41	chr9:6680134..6683245-chr9:6684622..6687341,3	K562	blood:
42	chr9:6686168..6688293-chr9:6706461..6708275,2	MCF-7	breast:
43	chr9:6354241..6354767-chr9:6667295..6668097,2	K562	blood:
44	chr9:6681605..6682369-chrX:131157077..131157782,2	Hela-S3	cervix:
45	chr9:6679611..6682734-chr9:6683304..6686457,4	MCF-7	breast:
46	chr9:6680768..6683764-chr9:6756005..6759658,4	MCF-7	breast:
47	chr9:6679678..6684692-chr9:6754924..6762822,14	K562	blood:
48	chr9:6584834..6585802-chr9:6667386..6668426,5	MCF-7	breast:
49	chr9:6680283..6682960-chr9:6684797..6686808,2	MCF-7	breast:
50	chr9:6682207..6684667-chr9:6707689..6709841,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KDM4C-1	chr9:6713527-6713630	NONHSAT130154
2	lnc-KDM4C-1	chr9:6719071-6719370	ENSG00000225489.1
3	lnc-KDM4C-1	chr9:6708810-6708981	NONHSAT130155
4	lnc-KDM4C-2	chr9:6707542-6707776	NONHSAT130153
5	lnc-KDM4C-1	chr9:6723527-6723630	ENSG00000225489.1
6	lnc-KDM4C-1	chr9:6709071-6709370	NONHSAT130155
7	lnc-KDM4C-1	chr9:6719068-6719154	ENSG00000225489.1
8	lnc-KDM4C-1	chr9:6717873-6718149	NONHSAT130158
9	lnc-KDM4C-2	chr9:6704471-6704653	XLOC_007275
10	lnc-KDM4C-11	chr9:6697542-6697780	NONHSAT130150
11	lnc-KDM4C-1	chr9:6718810-6718981	ENSG00000225489.1
12	lnc-KDM4C-14	chr9:6660407-6661044	NONHSAT130146
13	lnc-KDM4C-1	chr9:6717873-6719234	NONHSAT130157
14	lnc-KDM4C-1	chr9:6716548-6716616	ENSG00000225489.1
15	lnc-KDM4C-2	chr9:6707542-6707763	XLOC_007275
16	lnc-KDM4C-1	chr9:6710863-6710997	NONHSAT130154
17	lnc-KDM4C-1	chr9:6716183-6716616	NONHSAT130157
18	lnc-KDM4C-1	chr9:6707873-6708981	NONHSAT130154
19	lnc-KDM4C-13	chr9:6663156-6663366	NONHSAT130148
20	lnc-KDM4C-1	chr9:6716196-6716315	NONHSAT130158
21	lnc-KDM4C-2	chr9:6707542-6707780	XLOC_007275
22	lnc-KDM4C-1	chr9:6716946-6717438	NONHSAT130156
23	lnc-KDM4C-1	chr9:6709071-6709154	NONHSAT130154
24	lnc-KDM4C-1	chr9:6717873-6718981	ENSG00000225489.1
25	lnc-KDM4C-2	chr9:6704453-6704653	XLOC_007275
26	lnc-KDM4C-2	chr9:6704339-6704366	NONHSAT130152
27	lnc-KDM4C-2	chr9:6704179-6704343	XLOC_007275
28	lnc-KDM4C-1	chr9:6720863-6720997	ENSG00000225489.1
29	lnc-KDM4C-1	chr9:6706548-6706616	NONHSAT130154
30	lnc-KDM4C-13	chr9:6662424-6662810	NONHSAT130148
31	lnc-KDM4C-14	chr9:6661291-6661345	NONHSAT130146
32	lnc-KDM4C-14	chr9:6661783-6661845	NONHSAT130146
33	lnc-KDM4C-5	chr9:6669544-6669728	NONHSAT130145
34	lnc-KDM4C-1	chr9:6716503-6716619	NONHSAT130156
35	lnc-KDM4C-12	chr9:6675284-6675614	NONHSAT130149
36	lnc-KDM4C-1	chr9:6719071-6719154	ENSG00000225489.2
37	lnc-KDM4C-2	chr9:6704453-6704977	NONHSAT130152
38	lnc-KDM4C-1	chr9:6709068-6709154	NONHSAT130156
39	lnc-KDM4C-1	chr9:6718965-6718981	ENSG00000225489.2
40	lnc-KDM4C-13	chr9:6663657-6663792	NONHSAT130148
41	lnc-KDM4C-1	chr9:6720863-6720997	ENSG00000225489.2
42	lnc-KDM4C-1	chr9:6720863-6720997	ENSG00000225489.1
43	lnc-KDM4C-11	chr9:6694471-6694653	NONHSAT130150
44	lnc-KDM4C-1	chr9:6719071-6719154	ENSG00000225489.1
45	lnc-KDM4C-14	chr9:6661651-6661936	NONHSAT130147
46	lnc-KDM4C-5	chr9:6670425-6670690	NONHSAT130145
47	lnc-KDM4C-5	chr9:6670425-6670635	ENSG00000236924.1
48	lnc-KDM4C-5	chr9:6669544-6669728	ENSG00000236924.1
49	lnc-KDM4C-1	chr9:6710863-6710997	NONHSAT130156
50	lnc-KDM4C-2	chr9:6704406-6704653	NONHSAT130153

No data

Variant related genes	Relation type
ENSG00000229611	TF binding region
ENSG00000232946	TF binding region
KDM4C	TF binding region
RNF2P1	TF binding region
ENSG00000229057	TF binding region
ENSG00000225489	TF binding region
RN7SL123P	TF binding region
ENSG00000229611	CpG island
ENSG00000232946	CpG island
KDM4C	CpG island
RNF2P1	CpG island
ENSG00000229057	CpG island
ENSG00000225489	CpG island
RN7SL123P	CpG island
ENSG00000215717	chromatin interactions
ENSG00000272716	chromatin interactions
ENSG00000229611	chromatin interactions
ENSG00000273382	chromatin interactions
ENSG00000232946	chromatin interactions
ENSG00000132259	chromatin interactions
ENSG00000107036	chromatin interactions
ENSG00000105327	chromatin interactions
ENSG00000051009	chromatin interactions
ENSG00000236778	chromatin interactions
ENSG00000150768	chromatin interactions
ENSG00000200156	chromatin interactions
ENSG00000162065	chromatin interactions
ENSG00000197323	chromatin interactions
ENSG00000100504	chromatin interactions
ENSG00000170473	chromatin interactions
ENSG00000168944	chromatin interactions
ENSG00000161847	chromatin interactions
ENSG00000101220	chromatin interactions
ENSG00000079999	chromatin interactions
ENSG00000273355	chromatin interactions
ENSG00000231381	chromatin interactions
ENSG00000236924	chromatin interactions
ENSG00000165115	chromatin interactions
ENSG00000117308	chromatin interactions
ENSG00000225489	chromatin interactions
ENSG00000170037	chromatin interactions
ENSG00000102786	chromatin interactions
ENSG00000072210	chromatin interactions
ENSG00000134602	chromatin interactions
ENSG00000173559	chromatin interactions
ENSG00000170265	chromatin interactions
ENSG00000107077	chromatin interactions
ENSG00000105372	chromatin interactions
ENSG00000178445	chromatin interactions
ENSG00000170043	chromatin interactions
ENSG00000266863	chromatin interactions
ENSG00000065357	chromatin interactions
ENSG00000206147	chromatin interactions
ENSG00000150753	chromatin interactions
ENSG00000229057	chromatin interactions
ENSG00000156875	chromatin interactions
ENSG00000150756	chromatin interactions
ENSG00000177426	chromatin interactions
ENSG00000160271	chromatin interactions
ENSG00000272426	chromatin interactions
ENSG00000147403	chromatin interactions
ENSG00000147854	chromatin interactions
DNMT3A	miRNA target sites
NXT2	miRNA target sites

Extended variants
information (count: 3716 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:3716 , 50 per page) page: 1 2 3 4 5 6 7 ... 75

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7860723	chr9:6656619-6656620	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs12554718	chr9:6656630-6656631	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs555791457	chr9:6656653-6656654	Enhancers Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs565471236	chr9:6656679-6656680	Enhancers Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs182079760	chr9:6656690-6656691	Enhancers Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs186382819	chr9:6656691-6656692	Enhancers Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs34812210	chr9:6656721-6656722	Enhancers Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs190434506	chr9:6656738-6656739	Enhancers Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs139950699	chr9:6656806-6656807	Enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs531493004	chr9:6656812-6656813	Enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs35750037	chr9:6656814-6656815	Enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs561343153	chr9:6656856-6656857	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs55924444	chr9:6656892-6656893	Enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs112954164	chr9:6656896-6656897	Enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs557796444	chr9:6656932-6656933	Enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs149857514	chr9:6656939-6656940	Enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs182760911	chr9:6656964-6656965	Enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs80224084	chr9:6656976-6656977	Enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs570360704	chr9:6656996-6656997	Enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs537739959	chr9:6657024-6657025	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs549404110	chr9:6657047-6657048	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs567626929	chr9:6657088-6657089	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs187446292	chr9:6657126-6657127	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs190999219	chr9:6657137-6657138	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs530528529	chr9:6657151-6657152	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs183307674	chr9:6657153-6657154	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs10758801	chr9:6657192-6657193	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs35665950	chr9:6657200-6657201	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs557657647	chr9:6657202-6657203	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs576330827	chr9:6657228-6657229	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs528103216	chr9:6657233-6657234	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs567962975	chr9:6657288-6657289	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs147340098	chr9:6657298-6657299	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs115784463	chr9:6657300-6657301	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs139497263	chr9:6657314-6657315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs187567572	chr9:6657318-6657319	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs145129549	chr9:6657336-6657337	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs532869688	chr9:6657347-6657348	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192814350	chr9:6657385-6657386	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112591877	chr9:6657409-6657410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs531241181	chr9:6657414-6657415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs549664176	chr9:6657422-6657423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs567687869	chr9:6657425-6657426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs535049097	chr9:6657427-6657428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs372323796	chr9:6657439-6657440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs546664999	chr9:6657456-6657457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs571754484	chr9:6657471-6657472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs531604953	chr9:6657482-6657483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs112868232	chr9:6657610-6657611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs34635514	chr9:6657612-6657613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:107)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD

Chromatin state (count:1503 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:6646600-6656800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr9:6646800-6657000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr9:6648200-6670400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr9:6648400-6658200	Weak transcription	A549	lung
5	chr9:6648400-6669400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr9:6648400-6680400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr9:6648600-6677600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr9:6648600-6680400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr9:6648800-6680400	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr9:6649800-6664200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr9:6650000-6657000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr9:6650000-6658400	Weak transcription	HepG2	liver
13	chr9:6653200-6656800	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr9:6654000-6669400	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr9:6656600-6656800	Genic enhancers	HUES6 Cell Line	embryonic stem cell
16	chr9:6656600-6656800	Enhancers	GM12878-XiMat	blood
17	chr9:6656600-6657200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr9:6656600-6657200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr9:6656600-6657400	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr9:6656600-6657400	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr9:6656600-6659400	Enhancers	Liver	Liver
22	chr9:6656800-6657000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr9:6656800-6657000	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr9:6656800-6657000	Flanking Active TSS	GM12878-XiMat	blood
25	chr9:6656800-6657200	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr9:6657000-6657200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr9:6657000-6657200	Genic enhancers	HUES64 Cell Line	embryonic stem cell
28	chr9:6657000-6657400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr9:6657000-6658600	Enhancers	GM12878-XiMat	blood
30	chr9:6657200-6669400	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr9:6657200-6669800	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr9:6657200-6680400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr9:6657400-6664400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr9:6657400-6680400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr9:6657400-6680400	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr9:6658200-6659000	Enhancers	A549	lung
37	chr9:6658400-6659200	Enhancers	HepG2	liver
38	chr9:6658600-6667600	Weak transcription	GM12878-XiMat	blood
39	chr9:6658800-6659200	Enhancers	HUVEC	blood vessel
40	chr9:6659000-6662200	Weak transcription	A549	lung
41	chr9:6659200-6661400	Weak transcription	HepG2	liver
42	chr9:6659200-6664600	Weak transcription	HUVEC	blood vessel
43	chr9:6659400-6660800	Weak transcription	Liver	Liver
44	chr9:6660800-6664200	Enhancers	Liver	Liver
45	chr9:6661400-6661600	Enhancers	HepG2	liver
46	chr9:6661600-6662000	Weak transcription	HepG2	liver
47	chr9:6662000-6664200	Enhancers	HepG2	liver
48	chr9:6662200-6662600	Enhancers	A549	lung
49	chr9:6662600-6662800	Flanking Active TSS	A549	lung
50	chr9:6662800-6664200	Enhancers	A549	lung

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