Variant report

Variant	nsv471273
Chromosome Location	chr9:6673465-6739489
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2137)
CpG islands
(count:1164)
Chromatin interactive
region (count:121)
LncRNA
region (count:44)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2137 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:6716174-6716454	HepG2	liver:	n/a	n/a
2	ARID3A	chr9:6714320-6714869	HepG2	liver:	n/a	n/a
3	ARID3A	chr9:6680666-6681844	HepG2	liver:	n/a	n/a
4	ARID3A	chr9:6702813-6703015	K562	blood:	n/a	n/a
5	ARID3A	chr9:6683465-6683727	K562	blood:	n/a	n/a
6	ARID3A	chr9:6673778-6673994	HepG2	liver:	n/a	n/a
7	ARID3A	chr9:6739329-6739619	HepG2	liver:	n/a	n/a
8	ATF1	chr9:6681148-6681907	K562	blood:	n/a	n/a
9	ATF1	chr9:6683332-6683728	K562	blood:	n/a	n/a
10	ATF2	chr9:6722727-6723186	GM12878	blood:	n/a	n/a
11	ATF2	chr9:6703874-6704656	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF2	chr9:6715844-6716527	GM12878	blood:	n/a	chr9:6716129-6716140
13	ATF2	chr9:6680902-6681966	H1-hESC	embryonic stem cell:	n/a	n/a
14	ATF2	chr9:6681171-6681904	H1-hESC	embryonic stem cell:	n/a	n/a
15	ATF2	chr9:6680648-6682329	GM12878	blood:	n/a	n/a
16	ATF2	chr9:6703375-6704596	GM12878	blood:	n/a	n/a
17	ATF2	chr9:6683034-6683764	GM12878	blood:	n/a	n/a
18	ATF2	chr9:6683093-6683781	GM12878	blood:	n/a	n/a
19	ATF2	chr9:6689798-6690646	GM12878	blood:	n/a	n/a
20	ATF2	chr9:6703839-6704309	GM12878	blood:	n/a	n/a
21	ATF2	chr9:6715890-6716329	GM12878	blood:	n/a	chr9:6716129-6716140
22	ATF2	chr9:6703987-6704605	H1-hESC	embryonic stem cell:	n/a	n/a
23	ATF2	chr9:6680771-6682208	GM12878	blood:	n/a	n/a
24	ATF2	chr9:6673244-6673922	GM12878	blood:	n/a	n/a
25	ATF2	chr9:6722741-6723673	GM12878	blood:	n/a	n/a
26	ATF3	chr9:6703937-6704598	GM12878	blood:	n/a	chr9:6703954-6703967 chr9:6704101-6704111
27	ATF3	chr9:6704052-6704432	HepG2	liver:	n/a	chr9:6704101-6704111
28	ATF3	chr9:6681561-6681854	K562	blood:	n/a	chr9:6681721-6681741
29	ATF3	chr9:6704051-6704512	A549	lung:	n/a	chr9:6704101-6704111
30	ATF3	chr9:6681031-6681807	A549	lung:	n/a	chr9:6681281-6681290 chr9:6681270-6681290 chr9:6681721-6681741
31	ATF3	chr9:6681132-6681923	A549	lung:	n/a	chr9:6681281-6681290 chr9:6681270-6681290 chr9:6681721-6681741
32	ATF3	chr9:6703946-6704478	A549	lung:	n/a	chr9:6703954-6703967 chr9:6704101-6704111
33	ATF3	chr9:6680937-6681651	GM12878	blood:	n/a	chr9:6681281-6681290 chr9:6681270-6681290
34	ATF3	chr9:6681128-6681460	HepG2	liver:	n/a	chr9:6681281-6681290 chr9:6681270-6681290
35	ATF3	chr9:6681117-6681516	K562	blood:	n/a	chr9:6681281-6681290 chr9:6681270-6681290
36	ATF3	chr9:6703972-6704567	H1-hESC	embryonic stem cell:	n/a	chr9:6704101-6704111
37	ATF3	chr9:6681111-6681416	H1-hESC	embryonic stem cell:	n/a	chr9:6681281-6681290 chr9:6681270-6681290
38	ATF3	chr9:6704072-6704352	GM12878	blood:	n/a	chr9:6704101-6704111
39	ATF3	chr9:6703900-6704493	H1-hESC	embryonic stem cell:	n/a	chr9:6703954-6703967 chr9:6704101-6704111
40	ATF3	chr9:6703940-6704551	HepG2	liver:	n/a	chr9:6703954-6703967 chr9:6704101-6704111
41	ATF3	chr9:6681099-6681405	GM12878	blood:	n/a	chr9:6681281-6681290 chr9:6681270-6681290
42	BACH1	chr9:6703514-6704556	H1-hESC	embryonic stem cell:	n/a	n/a
43	BACH1	chr9:6684511-6684834	H1-hESC	embryonic stem cell:	n/a	n/a
44	BACH1	chr9:6680705-6681903	H1-hESC	embryonic stem cell:	n/a	n/a
45	BATF	chr9:6683125-6683562	GM12878	blood:	n/a	n/a
46	BATF	chr9:6722711-6723091	GM12878	blood:	n/a	n/a
47	BATF	chr9:6723227-6723565	GM12878	blood:	n/a	n/a
48	BATF	chr9:6681559-6681850	GM12878	blood:	n/a	n/a
49	BATF	chr9:6683124-6683704	GM12878	blood:	n/a	n/a
50	BCL11A	chr9:6723143-6723561	GM12878	blood:	n/a	n/a

(count:1164 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:6683274-6683324	U87	brain:	n/a
2	chr9:6681415-6681465	RPTEC	kidney:	n/a
3	chr9:6706149-6706199	HCF	heart:	n/a
4	chr9:6680932-6680982	HIPEpiC	eye:	n/a
5	chr9:6706149-6706199	NHDF-neo	bronchial:	n/a
6	chr9:6683274-6683324	U87	brain:	n/a
7	chr9:6681415-6681465	RPTEC	kidney:	n/a
8	chr9:6706149-6706199	HCF	heart:	n/a
9	chr9:6680932-6680982	HIPEpiC	eye:	n/a
10	chr9:6706149-6706199	NHDF-neo	bronchial:	n/a
11	chr9:6703949-6703999	AG09319	gingival:	n/a
12	chr9:6715032-6715082	ovcar-3	ovarian:	n/a
13	chr9:6716480-6716530	HIPEpiC	eye:	n/a
14	chr9:6681559-6681609	GM19239	blood:	n/a
15	chr9:6681559-6681609	HPAEpiC	pulmonary alveolar:	n/a
16	chr9:6700000-6700050	ECC-1	luminal epithelium:	n/a
17	chr9:6683274-6683324	BJ	skin:	n/a
18	chr9:6707115-6707165	Jurkat	blood:	n/a
19	chr9:6681415-6681465	MCF10A-Er-Src	breast:	n/a
20	chr9:6680800-6680850	HMEC	breast:	n/a
21	chr9:6680932-6680982	GM12892	blood:	n/a
22	chr9:6680923-6680973	AG04450	lung:	fetal
23	chr9:6681608-6681658	HIPEpiC	eye:	n/a
24	chr9:6681608-6681658	HepG2	liver:	n/a
25	chr9:6716007-6716057	AG04450	lung:	fetal
26	chr9:6716007-6716057	NHDF-neo	bronchial:	n/a
27	chr9:6681415-6681465	HCF	heart:	n/a
28	chr9:6707115-6707165	NHBE	bronchial:	n/a
29	chr9:6681559-6681609	CMK	blood:	n/a
30	chr9:6716480-6716530	HEEpiC	esophagus:	n/a
31	chr9:6731623-6731673	AG09319	gingival:	n/a
32	chr9:6707115-6707165	MCF-7	breast:	n/a
33	chr9:6680932-6680982	BJ	skin:	n/a
34	chr9:6715032-6715082	NHBE	bronchial:	n/a
35	chr9:6704178-6704228	NHBE	bronchial:	n/a
36	chr9:6731623-6731673	HRE	kidney:	n/a
37	chr9:6704574-6704624	HRE	kidney:	n/a
38	chr9:6703605-6703655	BE2_C	brain:	n/a
39	chr9:6716417-6716467	GM06990	blood:	n/a
40	chr9:6704178-6704228	IMR90	lung:	fetal
41	chr9:6683274-6683324	Jurkat	blood:	n/a
42	chr9:6680800-6680850	RPTEC	kidney:	n/a
43	chr9:6704574-6704624	AG04449	skin:	fetal
44	chr9:6716480-6716530	AoSMC	blood vessel:	n/a
45	chr9:6683274-6683324	HCPEpiC	choroid plexus:	n/a
46	chr9:6716417-6716467	HNPCEpiC	eye:	n/a
47	chr9:6704574-6704624	ovcar-3	ovarian:	n/a
48	chr9:6716417-6716467	HEK293	kidney:	embryo
49	chr9:6731623-6731673	HepG2	liver:	n/a
50	chr9:6680800-6680850	NT2-D1	testis:	n/a

(count:121 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr9:6680103..6682666-chr9:6784102..6786978,2	K562	blood:
2	chr2:192542408..192543057-chr9:6680954..6681934,2	NB4	blood:
3	chr16:2524772..2525666-chr9:6680779..6681752,2	NB4	blood:
4	chr9:6680768..6683764-chr9:6756005..6759658,4	MCF-7	breast:
5	chr1:17230975..17231846-chr9:6681106..6681762,2	NB4	blood:
6	chr9:6680283..6682960-chr9:6684797..6686808,2	MCF-7	breast:
7	chr9:6681423..6683704-chr9:6710640..6713020,2	MCF-7	breast:
8	chr17:57916861..57918558-chr9:6681283..6683032,2	MCF-7	breast:
9	chr9:6624229..6626158-chr9:6679853..6681433,2	MCF-7	breast:
10	chr9:5627146..5630018-chr9:6679826..6681382,2	K562	blood:
11	chr9:6671740..6675372-chr9:6679558..6683814,6	MCF-7	breast:
12	chr9:6679734..6682958-chr9:6730915..6733550,3	MCF-7	breast:
13	chr9:6722888..6726785-chr9:6754807..6757177,3	K562	blood:
14	chr9:6681451..6683371-chr9:6705864..6707945,2	MCF-7	breast:
15	chr9:6663029..6667664-chr9:6679639..6683357,9	MCF-7	breast:
16	chr19:10443689..10444474-chr9:6681327..6681946,2	NB4	blood:
17	chr9:6714309..6715981-chr9:6723655..6726584,2	MCF-7	breast:
18	chr9:6639721..6642651-chr9:6680043..6682884,2	MCF-7	breast:
19	chr9:6680506..6681363-chrX:40943980..40944586,2	NB4	blood:
20	chr9:6714844..6717578-chr9:6754943..6759087,4	MCF-7	breast:
21	chr9:6680283..6682960-chr9:6684797..6686808,2	MCF-7	breast:
22	chr9:6702391..6705446-chr9:6756717..6760058,5	MCF-7	breast:
23	chr9:6623651..6625727-chr9:6679924..6681530,2	MCF-7	breast:
24	chr9:6680134..6683245-chr9:6684622..6687341,3	K562	blood:
25	chr9:6685128..6687481-chr9:6715768..6718010,2	MCF-7	breast:
26	chr9:6642994..6646042-chr9:6680317..6683201,5	MCF-7	breast:
27	chr9:6690536..6693350-chr9:6698647..6700189,2	MCF-7	breast:
28	chr9:6679611..6682734-chr9:6683304..6686457,4	MCF-7	breast:
29	chr1:109632782..109633775-chr9:6680831..6681750,2	NB4	blood:
30	chr9:6661026..6667542-chr9:6678514..6683695,9	MCF-7	breast:
31	chr9:6680087..6683627-chr9:6714158..6717601,7	MCF-7	breast:
32	chr9:6685820..6688107-chr9:6699923..6703311,3	MCF-7	breast:
33	chr1:115053255..115053998-chr9:6681371..6681985,2	NB4	blood:
34	chr1:24125890..24126538-chr9:6680656..6681410,2	NB4	blood:
35	chr9:6698340..6700152-chr9:6701946..6704339,2	MCF-7	breast:
36	chr9:6686168..6688293-chr9:6706461..6708275,2	MCF-7	breast:
37	chr9:6702551..6705246-chr9:6715022..6717677,6	MCF-7	breast:
38	chr9:6354073..6354743-chr9:6738989..6739892,3	K562	blood:
39	chr11:118991755..118992281-chr9:6681143..6681754,2	NB4	blood:
40	chr9:6645871..6648933-chr9:6680309..6682972,3	MCF-7	breast:
41	chr9:6702847..6705575-chr9:6714326..6717882,7	MCF-7	breast:
42	chr9:6683289..6684884-chr9:6702645..6704262,2	MCF-7	breast:
43	chr2:32389334..32390859-chr9:6713099..6716031,2	MCF-7	breast:
44	chr9:6681605..6682369-chrX:131157077..131157782,2	Hela-S3	cervix:
45	chr17:7834821..7835603-chr9:6681148..6681758,2	NB4	blood:
46	chr11:6255893..6256668-chr9:6681534..6682304,2	HCT-116	colon:
47	chr9:6638714..6640466-chr9:6681026..6683863,2	MCF-7	breast:
48	chr9:6706468..6709007-chr9:6764056..6766511,2	MCF-7	breast:
49	chr9:6711589..6718151-chr9:6755774..6759657,12	MCF-7	breast:
50	chr9:6533272..6535800-chr9:6681069..6683891,2	K562	blood:

(count:44 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KDM4C-1	chr9:6726503-6726619	ENSG00000225489.1
2	lnc-KDM4C-2	chr9:6704453-6704653	XLOC_007275
3	lnc-KDM4C-1	chr9:6717873-6719234	NONHSAT130157
4	lnc-KDM4C-1	chr9:6718965-6718981	ENSG00000225489.2
5	lnc-KDM4C-1	chr9:6716183-6716616	NONHSAT130157
6	lnc-KDM4C-2	chr9:6704471-6704653	XLOC_007275
7	lnc-KDM4C-1	chr9:6710863-6710997	NONHSAT130156
8	lnc-KDM4C-1	chr9:6716503-6716619	NONHSAT130156
9	lnc-KDM4C-1	chr9:6716196-6716315	NONHSAT130158
10	lnc-SNRPEP2-1	chr9:6734598-6735076	NONHSAT130163
11	lnc-KDM4C-2	chr9:6704453-6704977	NONHSAT130152
12	lnc-KDM4C-1	chr9:6726503-6726619	ENSG00000225489.2
13	lnc-KDM4C-2	chr9:6704406-6704653	NONHSAT130153
14	lnc-KDM4C-2	chr9:6707542-6707763	XLOC_007275
15	lnc-KDM4C-2	chr9:6707542-6707776	NONHSAT130153
16	lnc-KDM4C-12	chr9:6675284-6675614	NONHSAT130149
17	lnc-KDM4C-2	chr9:6704179-6704343	XLOC_007275
18	lnc-KDM4C-1	chr9:6726946-6727438	ENSG00000225489.1
19	lnc-KDM4C-1	chr9:6716946-6717438	NONHSAT130156
20	lnc-KDM4C-1	chr9:6719068-6719154	ENSG00000225489.1
21	lnc-KDM4C-1	chr9:6716548-6716616	ENSG00000225489.1
22	lnc-KDM4C-1	chr9:6719071-6719154	ENSG00000225489.2
23	lnc-KDM4C-1	chr9:6709071-6709154	NONHSAT130154
24	lnc-KDM4C-11	chr9:6694471-6694653	NONHSAT130150
25	lnc-KDM4C-1	chr9:6720863-6720997	ENSG00000225489.2
26	lnc-KDM4C-1	chr9:6720863-6720997	ENSG00000225489.1
27	lnc-KDM4C-1	chr9:6723527-6723630	ENSG00000225489.1
28	lnc-KDM4C-1	chr9:6720863-6720997	ENSG00000225489.1
29	lnc-KDM4C-1	chr9:6719071-6719154	ENSG00000225489.1
30	lnc-KDM4C-1	chr9:6713527-6713630	NONHSAT130154
31	lnc-KDM4C-1	chr9:6718810-6718981	ENSG00000225489.1
32	lnc-KDM4C-1	chr9:6709071-6709370	NONHSAT130155
33	lnc-KDM4C-1	chr9:6717873-6718149	NONHSAT130158
34	lnc-KDM4C-1	chr9:6706548-6706616	NONHSAT130154
35	lnc-KDM4C-1	chr9:6726946-6727438	ENSG00000225489.2
36	lnc-KDM4C-1	chr9:6709068-6709154	NONHSAT130156
37	lnc-KDM4C-1	chr9:6708810-6708981	NONHSAT130155
38	lnc-KDM4C-2	chr9:6707542-6707780	XLOC_007275
39	lnc-KDM4C-2	chr9:6704339-6704366	NONHSAT130152
40	lnc-KDM4C-1	chr9:6710863-6710997	NONHSAT130154
41	lnc-KDM4C-1	chr9:6707873-6708981	NONHSAT130154
42	lnc-KDM4C-11	chr9:6697542-6697780	NONHSAT130150
43	lnc-KDM4C-1	chr9:6717873-6718981	ENSG00000225489.1
44	lnc-KDM4C-1	chr9:6719071-6719370	ENSG00000225489.1

No data

Variant related genes	Relation type
ENSG00000229611	TF binding region
ENSG00000232946	TF binding region
KDM4C	TF binding region
RNF2P1	TF binding region
ENSG00000231108	TF binding region
ENSG00000225489	TF binding region
ENSG00000229611	CpG island
ENSG00000232946	CpG island
KDM4C	CpG island
RNF2P1	CpG island
ENSG00000231108	CpG island
ENSG00000225489	CpG island
ENSG00000072210	chromatin interactions
ENSG00000170473	chromatin interactions
ENSG00000161847	chromatin interactions
ENSG00000165115	chromatin interactions
ENSG00000134602	chromatin interactions
ENSG00000051009	chromatin interactions
ENSG00000147854	chromatin interactions
ENSG00000225489	chromatin interactions
ENSG00000206147	chromatin interactions
ENSG00000200156	chromatin interactions
ENSG00000229057	chromatin interactions
ENSG00000273382	chromatin interactions
ENSG00000101220	chromatin interactions
ENSG00000160271	chromatin interactions
ENSG00000232946	chromatin interactions
ENSG00000266863	chromatin interactions
ENSG00000117308	chromatin interactions
ENSG00000229611	chromatin interactions
ENSG00000273355	chromatin interactions
ENSG00000272426	chromatin interactions
ENSG00000231381	chromatin interactions
ENSG00000107036	chromatin interactions
ENSG00000105372	chromatin interactions
ENSG00000107077	chromatin interactions
ENSG00000102786	chromatin interactions
ENSG00000170043	chromatin interactions
ENSG00000100504	chromatin interactions
ENSG00000150753	chromatin interactions
ENSG00000132259	chromatin interactions
ENSG00000162065	chromatin interactions
ENSG00000079999	chromatin interactions
ENSG00000147403	chromatin interactions
ENSG00000272716	chromatin interactions
ENSG00000178445	chromatin interactions
ENSG00000170037	chromatin interactions
ENSG00000236778	chromatin interactions
ENSG00000215717	chromatin interactions
ENSG00000168944	chromatin interactions
ENSG00000170265	chromatin interactions
ENSG00000150756	chromatin interactions
ENSG00000236924	chromatin interactions
ENSG00000173559	chromatin interactions
ENSG00000065357	chromatin interactions
ENSG00000150768	chromatin interactions
ENSG00000177426	chromatin interactions
ENSG00000156875	chromatin interactions
ENSG00000197323	chromatin interactions
ENSG00000105327	chromatin interactions
DNMT3A	miRNA target sites
NXT2	miRNA target sites

Extended variants
information (count: 3627 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:3627 , 50 per page) page: 1 2 3 4 5 6 7 ... 73

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7871969	chr9:6673465-6673466	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs572060197	chr9:6673466-6673467	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
3	rs546089461	chr9:6673472-6673473	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
4	rs186804330	chr9:6673489-6673490	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
5	rs202220551	chr9:6673500-6673501	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs34950976	chr9:6673502-6673503	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs397963901	chr9:6673503-6673504	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs576683787	chr9:6673547-6673548	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
9	rs544153635	chr9:6673578-6673579	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
10	rs76100225	chr9:6673598-6673599	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
11	rs529348482	chr9:6673608-6673609	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
12	rs146109396	chr9:6673609-6673610	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
13	rs548924105	chr9:6673649-6673650	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
14	rs140150355	chr9:6673668-6673669	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
15	rs533427414	chr9:6673677-6673678	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
16	rs539914351	chr9:6673700-6673701	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
17	rs375400957	chr9:6673701-6673702	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
18	rs570598046	chr9:6673716-6673717	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
19	rs113269290	chr9:6673763-6673764	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
20	rs1759413	chr9:6673766-6673767	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs571499847	chr9:6673787-6673788	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
22	rs1759414	chr9:6673830-6673831	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs568009367	chr9:6673853-6673854	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
24	rs535084705	chr9:6673857-6673858	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
25	rs368673184	chr9:6673929-6673930	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
26	rs374537758	chr9:6673955-6673956	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
27	rs2578275	chr9:6673957-6673958	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs143896075	chr9:6673978-6673979	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
29	rs539488441	chr9:6673997-6673998	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
30	rs557544002	chr9:6674006-6674007	Weak transcription Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
31	rs144853793	chr9:6674022-6674023	Weak transcription Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
32	rs544022538	chr9:6674027-6674028	Weak transcription Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
33	rs10975735	chr9:6674087-6674088	Weak transcription Strong transcription Enhancers	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs537820753	chr9:6674095-6674096	Weak transcription Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
35	rs541446842	chr9:6674098-6674099	Weak transcription Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
36	rs192378787	chr9:6674099-6674100	Weak transcription Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
37	rs559667761	chr9:6674115-6674116	Weak transcription Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
38	rs148398036	chr9:6674118-6674119	Weak transcription Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
39	rs545514106	chr9:6674136-6674137	Weak transcription Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
40	rs142490562	chr9:6674148-6674149	Weak transcription Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
41	rs10975736	chr9:6674149-6674150	Weak transcription Strong transcription Enhancers	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs549516115	chr9:6674156-6674157	Weak transcription Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
43	rs560016952	chr9:6674193-6674194	Weak transcription Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
44	rs183537515	chr9:6674204-6674205	Weak transcription Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
45	rs377011222	chr9:6674206-6674207	Weak transcription Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
46	rs529116215	chr9:6674212-6674213	Weak transcription Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
47	rs1658951	chr9:6674217-6674218	Weak transcription Strong transcription Enhancers	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs7874966	chr9:6674246-6674247	Weak transcription Strong transcription Enhancers	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs187510400	chr9:6674252-6674253	Weak transcription Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
50	rs1759415	chr9:6674253-6674254	Weak transcription Strong transcription Enhancers	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:109)

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
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:1413 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

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	chr9:6667800-6680400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr9:6669400-6675600	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr9:6670000-6680400	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr9:6670600-6680000	Enhancers	Liver	Liver
16	chr9:6670600-6680400	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr9:6670800-6680600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr9:6671400-6680000	Enhancers	HepG2	liver
19	chr9:6671600-6673600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr9:6672000-6680400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr9:6672400-6680400	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr9:6672600-6674000	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr9:6673200-6673800	Flanking Active TSS	GM12878-XiMat	blood
24	chr9:6673200-6674000	Flanking Active TSS	A549	lung
25	chr9:6673600-6674000	Enhancers	Stomach Mucosa	stomach
26	chr9:6673600-6680400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr9:6673800-6674000	Enhancers	GM12878-XiMat	blood
28	chr9:6674000-6680000	Weak transcription	GM12878-XiMat	blood
29	chr9:6674000-6680400	Weak transcription	A549	lung
30	chr9:6675600-6680400	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr9:6677600-6677800	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr9:6677800-6678200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr9:6677800-6678400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr9:6677800-6678400	Enhancers	Placenta	Placenta
35	chr9:6677800-6680400	Weak transcription	Fetal Brain Male	brain
36	chr9:6678200-6678400	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr9:6678400-6680400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr9:6678400-6680600	Weak transcription	Placenta	Placenta
39	chr9:6678400-6680800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr9:6679800-6680000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr9:6679800-6680200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr9:6679800-6680400	Enhancers	Dnd41	blood
43	chr9:6680000-6680200	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr9:6680000-6680200	Flanking Active TSS	HepG2	liver
45	chr9:6680000-6680400	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr9:6680000-6680400	Enhancers	Primary B cells from cord blood	blood
47	chr9:6680000-6680400	Enhancers	Primary T cells from cord blood	blood
48	chr9:6680000-6680400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
49	chr9:6680000-6680400	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr9:6680000-6680400	Enhancers	GM12878-XiMat	blood

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