Variant report

Variant	nsv8541
Chromosome Location	chr9:86469723-86593758
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3296)
CpG islands
(count:1100)
Chromatin interactive
region (count:97)
LncRNA
region (count:19)
Mature miRNA
region (count: 2)
miRNA target
sites (count:2)

(count:3296 , 50 per page) page: 1 2 3 4 5 6 7 ... 66

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:86574100-86574109	HepG2	liver:	n/a	n/a
2	ARID3A	chr9:86500378-86500758	HepG2	liver:	n/a	n/a
3	ARID3A	chr9:86581470-86581472	HepG2	liver:	n/a	n/a
4	ARID3A	chr9:86579582-86579944	K562	blood:	n/a	n/a
5	ARID3A	chr9:86571380-86571827	HepG2	liver:	n/a	n/a
6	ARID3A	chr9:86578453-86578585	HepG2	liver:	n/a	n/a
7	ARID3A	chr9:86535494-86536921	HepG2	liver:	n/a	n/a
8	ATF1	chr9:86579533-86579865	K562	blood:	n/a	n/a
9	ATF2	chr9:86535464-86536111	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF2	chr9:86580548-86581216	GM12878	blood:	n/a	n/a
11	ATF2	chr9:86580202-86581672	GM12878	blood:	n/a	n/a
12	ATF2	chr9:86579548-86580083	GM12878	blood:	n/a	n/a
13	ATF2	chr9:86535356-86536066	GM12878	blood:	n/a	n/a
14	ATF2	chr9:86579550-86580178	GM12878	blood:	n/a	n/a
15	ATF2	chr9:86535405-86536155	GM12878	blood:	n/a	n/a
16	ATF2	chr9:86581755-86582464	H1-hESC	embryonic stem cell:	n/a	n/a
17	ATF2	chr9:86580506-86581613	H1-hESC	embryonic stem cell:	n/a	n/a
18	ATF2	chr9:86535487-86536085	H1-hESC	embryonic stem cell:	n/a	n/a
19	ATF3	chr9:86577106-86577655	HCT-116	colon:	n/a	n/a
20	ATF3	chr9:86500470-86500690	HepG2	liver:	n/a	n/a
21	ATF3	chr9:86500485-86500713	K562	blood:	n/a	n/a
22	BACH1	chr9:86535776-86536716	H1-hESC	embryonic stem cell:	n/a	n/a
23	BATF	chr9:86535650-86536027	GM12878	blood:	n/a	n/a
24	BATF	chr9:86547853-86548109	GM12878	blood:	n/a	n/a
25	BATF	chr9:86547907-86548108	GM12878	blood:	n/a	n/a
26	BCL11A	chr9:86535684-86536658	GM12878	blood:	n/a	chr9:86536409-86536422 chr9:86536253-86536266
27	BCL11A	chr9:86535614-86536076	GM12878	blood:	n/a	n/a
28	BCL3	chr9:86579986-86580447	GM12878	blood:	n/a	n/a
29	BCL3	chr9:86579835-86580381	A549	lung:	n/a	n/a
30	BCL3	chr9:86580474-86581386	GM12878	blood:	n/a	n/a
31	BCL3	chr9:86579408-86581369	A549	lung:	n/a	n/a
32	BCL3	chr9:86579562-86580425	K562	blood:	n/a	n/a
33	BCL3	chr9:86580385-86581050	A549	lung:	n/a	n/a
34	BCL3	chr9:86540372-86540633	GM12878	blood:	n/a	n/a
35	BCL3	chr9:86579866-86580224	GM12878	blood:	n/a	n/a
36	BCL3	chr9:86580540-86581367	K562	blood:	n/a	n/a
37	BCL3	chr9:86535616-86536060	GM12878	blood:	n/a	n/a
38	BCL3	chr9:86580322-86582517	K562	blood:	n/a	n/a
39	BCL3	chr9:86579349-86579667	GM12878	blood:	n/a	n/a
40	BCL3	chr9:86580482-86581059	GM12878	blood:	n/a	n/a
41	BCLAF1	chr9:86536317-86536801	GM12878	blood:	n/a	chr9:86536409-86536422
42	BCLAF1	chr9:86570923-86571407	GM12878	blood:	n/a	n/a
43	BCLAF1	chr9:86535488-86536083	K562	blood:	n/a	n/a
44	BCLAF1	chr9:86535428-86536097	GM12878	blood:	n/a	n/a
45	BCLAF1	chr9:86580607-86581515	K562	blood:	n/a	n/a
46	BCLAF1	chr9:86536451-86536976	GM12878	blood:	n/a	n/a
47	BCLAF1	chr9:86535622-86536069	K562	blood:	n/a	n/a
48	BCLAF1	chr9:86579601-86581565	GM12878	blood:	n/a	n/a
49	BCLAF1	chr9:86581931-86582354	GM12878	blood:	n/a	n/a
50	BCLAF1	chr9:86579327-86581454	GM12878	blood:	n/a	n/a

(count:1100 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:86571585-86571635	NHDF-neo	bronchial:	n/a
2	chr9:86571904-86571954	H1-hESC	embryonic stem cell:	embryo
3	chr9:86571585-86571635	NHDF-neo	bronchial:	n/a
4	chr9:86571904-86571954	H1-hESC	embryonic stem cell:	embryo
5	chr9:86590550-86590600	HL-60	blood:	n/a
6	chr9:86535695-86535745	HCT-116	colon:	n/a
7	chr9:86590550-86590600	BE2_C	brain:	n/a
8	chr9:86571814-86571864	PANC-1	pancreas:	n/a
9	chr9:86536513-86536563	HEK293	kidney:	embryo
10	chr9:86571904-86571954	AG09319	gingival:	n/a
11	chr9:86571814-86571864	HCPEpiC	choroid plexus:	n/a
12	chr9:86572014-86572064	SK-N-MC	brain:	n/a
13	chr9:86571585-86571635	ECC-1	luminal epithelium:	n/a
14	chr9:86536028-86536078	SK-N-SH_RA	brain:	n/a
15	chr9:86571814-86571864	K562	blood:	n/a
16	chr9:86536028-86536078	U87	brain:	n/a
17	chr9:86571432-86571482	A549	lung:	n/a
18	chr9:86569098-86569148	ECC-1	luminal epithelium:	n/a
19	chr9:86535755-86535805	GM12892	blood:	n/a
20	chr9:86536043-86536093	AG10803	skin:	n/a
21	chr9:86590550-86590600	HCM	heart:	n/a
22	chr9:86536513-86536563	LNCaP	prostate:	n/a
23	chr9:86535572-86535622	NT2-D1	testis:	n/a
24	chr9:86536043-86536093	HNPCEpiC	eye:	n/a
25	chr9:86573761-86573811	Hela-S3	cervix:	n/a
26	chr9:86571409-86571459	HEEpiC	esophagus:	n/a
27	chr9:86536043-86536093	AG09309	skin:	n/a
28	chr9:86573761-86573811	HAEpiC	amniotic membrane:	n/a
29	chr9:86590550-86590600	ProgFib	skin:	n/a
30	chr9:86571904-86571954	HMEC	breast:	n/a
31	chr9:86571409-86571459	GM12878	blood:	n/a
32	chr9:86569098-86569148	PrEC	prostate:	n/a
33	chr9:86573761-86573811	HRPEpiC	eye:	n/a
34	chr9:86571409-86571459	AoSMC	blood vessel:	n/a
35	chr9:86571432-86571482	NHBE	bronchial:	n/a
36	chr9:86535755-86535805	A549	lung:	n/a
37	chr9:86573761-86573811	NB4	blood:	n/a
38	chr9:86572014-86572064	HRCEpiC	kidney:	n/a
39	chr9:86569098-86569148	AoSMC	blood vessel:	n/a
40	chr9:86481663-86481713	AoSMC	blood vessel:	n/a
41	chr9:86573761-86573811	Jurkat	blood:	n/a
42	chr9:86538824-86538874	NHDF-neo	bronchial:	n/a
43	chr9:86567743-86567793	IMR90	lung:	fetal
44	chr9:86571432-86571482	NH-A	brain:	n/a
45	chr9:86481663-86481713	HEK293	kidney:	embryo
46	chr9:86571585-86571635	BE2_C	brain:	n/a
47	chr9:86538824-86538874	Hela-S3	cervix:	n/a
48	chr9:86569098-86569148	HepG2	liver:	n/a
49	chr9:86538824-86538874	HEK293	kidney:	embryo
50	chr9:86535695-86535745	LNCaP	prostate:	n/a

(count:97 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr9:86562110..86564008-chr9:86566569..86568796,2	K562	blood:
2	chr9:86534814..86537259-chr9:86954011..86956598,2	MCF-7	breast:
3	chr9:86534520..86537940-chr9:86592614..86595774,6	K562	blood:
4	chr9:86552517..86553279-chr9:86909104..86910184,4	MCF-7	breast:
5	chr9:86533247..86537973-chr9:86593370..86597981,20	MCF-7	breast:
6	chr9:86570737..86572270-chr9:86573976..86575561,2	K562	blood:
7	chr9:86533593..86537892-chr9:86593047..86598677,10	K562	blood:
8	chr9:86320289..86324589-chr9:86593742..86599530,6	K562	blood:
9	chr9:86525950..86529688-chr9:86534412..86537158,4	MCF-7	breast:
10	chr9:86541635..86544345-chr9:86665548..86667347,2	K562	blood:
11	chr15:72410541..72411177-chr9:86571005..86571803,2	Hela-S3	cervix:
12	chr9:86451626..86452376-chr9:86520762..86521311,2	MCF-7	breast:
13	chr9:86566614..86568645-chr9:86588942..86591883,2	K562	blood:
14	chr9:86551814..86552501-chr9:86930023..86930750,2	MCF-7	breast:
15	chr9:86321564..86323208-chr9:86572109..86574436,2	MCF-7	breast:
16	chr9:86566551..86568592-chr9:86569030..86570936,2	K562	blood:
17	chr9:86553744..86556309-chr9:86594734..86597162,2	MCF-7	breast:
18	chr11:62432743..62434322-chr9:86593092..86595353,2	MCF-7	breast:
19	chr9:86544458..86547106-chr9:86589351..86591605,3	K562	blood:
20	chr9:86534003..86537844-chr9:86570557..86574103,8	K562	blood:
21	chr9:86534561..86538164-chr9:86570673..86573880,3	K562	blood:
22	chr9:86551370..86553240-chr9:86557554..86559080,2	MCF-7	breast:
23	chr9:86507562..86509693-chr9:86509764..86511267,2	K562	blood:
24	chr9:86554424..86556839-chr9:86571104..86572996,2	MCF-7	breast:
25	chr9:86321176..86323111-chr9:86534764..86537575,5	MCF-7	breast:
26	chr9:86534003..86537844-chr9:86570557..86574103,8	K562	blood:
27	chr9:86535076..86537991-chr9:86590146..86593000,2	K562	blood:
28	chr9:86321510..86324086-chr9:86534187..86535894,2	K562	blood:
29	chr9:86545280..86547707-chr9:86930734..86934388,3	MCF-7	breast:
30	chr9:86431003..86433746-chr9:86534377..86536332,2	K562	blood:
31	chr9:86566551..86568592-chr9:86569030..86570936,2	K562	blood:
32	chr9:86533593..86537892-chr9:86593047..86598677,10	K562	blood:
33	chr9:86561198..86563897-chr9:86600302..86603108,2	MCF-7	breast:
34	chr9:86535076..86537991-chr9:86590146..86593000,2	K562	blood:
35	chr9:86535411..86537432-chr9:127629716..127632471,2	MCF-7	breast:
36	chr17:57914983..57917065-chr9:86592190..86594994,2	MCF-7	breast:
37	chr9:86554343..86556289-chr9:86570141..86571960,2	MCF-7	breast:
38	chr9:86548960..86550790-chr9:86568981..86570981,2	MCF-7	breast:
39	chr9:86569929..86574114-chr9:86574225..86577710,5	MCF-7	breast:
40	chr9:86468995..86471879-chr9:86534830..86536450,2	MCF-7	breast:
41	chr9:86534561..86538761-chr9:86547777..86551990,5	MCF-7	breast:
42	chr9:86548960..86550790-chr9:86568981..86570981,2	MCF-7	breast:
43	chr9:86552479..86553254-chr9:86875743..86876720,3	K562	blood:
44	chr9:86551370..86553240-chr9:86557554..86559080,2	MCF-7	breast:
45	chr9:86430622..86432919-chr9:86535075..86537489,2	MCF-7	breast:
46	chr9:86533979..86537502-chr9:86594012..86596999,11	MCF-7	breast:
47	chr9:86549593..86551703-chr9:86556254..86557805,2	MCF-7	breast:
48	chr9:86593378..86594996-chr9:86858039..86859653,2	MCF-7	breast:
49	chr9:86533247..86537973-chr9:86593370..86597981,20	MCF-7	breast:
50	chr9:86531254..86532896-chr9:86534357..86536311,2	MCF-7	breast:

(count:19 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RMI1-5	chr9:86474492-86474795	ENSG00000231616.4
2	lnc-RMI1-1	chr9:86590348-86590692	ENSG00000235298.1
3	lnc-RMI1-1	chr9:86587148-86587192	ENSG00000235298.1
4	lnc-RMI1-5	chr9:86473893-86474075	ENSG00000231616.4
5	lnc-RMI1-5	chr9:86474193-86474250	ENSG00000231616.4
6	lnc-RMI1-5	chr9:86474193-86474250	ENSG00000231616.4
7	lnc-RMI1-5	chr9:86473756-86474075	ENSG00000231616.4
8	lnc-RMI1-5	chr9:86469971-86470092	ENSG00000231616.4
9	lnc-RMI1-5	chr9:86473893-86474075	ENSG00000231616.4
10	lnc-RMI1-5	chr9:86473779-86474069	ENSG00000231616.4
11	lnc-RMI1-5	chr9:86474492-86475013	ENSG00000231616.4
12	lnc-RMI1-5	chr9:86474193-86474240	ENSG00000231616.4
13	lnc-RMI1-5	chr9:86473779-86474070	ENSG00000231616.4
14	lnc-RMI1-5	chr9:86473779-86474075	ENSG00000231616.4
15	lnc-RMI1-5	chr9:86474193-86474240	ENSG00000231616.4
16	lnc-RMI1-5	chr9:86473216-86474075	ENSG00000231616.4
17	lnc-RMI1-5	chr9:86482629-86483335	ENSG00000231616.4
18	lnc-RMI1-5	chr9:86482629-86483154	ENSG00000231616.4
19	lnc-RMI1-5	chr9:86474193-86474240	ENSG00000231616.4

miRNA name	Chromosome Location	mirBase accession
hsa-miR-7-1-3p	chr9:86584686-86584707	MIMAT0004553
hsa-miR-7-5p	chr9:86584727-86584749	MIMAT0000252_2

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	HNRNPK	hsa-miR-21-5p	chr9:86583583-86583604
2	HNRNPK	hsa-miR-30c-5p	chr9:86584206-86584228

Variant related genes	Relation type
KIF27	TF binding region
C9orf64	TF binding region
MIR7-1	TF binding region
RMI1	TF binding region
ENSG00000231616	TF binding region
HNRNPK	TF binding region
ENSG00000235298	TF binding region
KIF27	CpG island
C9orf64	CpG island
MIR7-1	CpG island
RMI1	CpG island
ENSG00000231616	CpG island
HNRNPK	CpG island
ENSG00000235298	CpG island
ENSG00000148057	chromatin interactions
ENSG00000143164	chromatin interactions
ENSG00000143158	chromatin interactions
ENSG00000241685	chromatin interactions
ENSG00000214756	chromatin interactions
ENSG00000270103	chromatin interactions
ENSG00000223247	chromatin interactions
ENSG00000164211	chromatin interactions
ENSG00000164081	chromatin interactions
ENSG00000202523	chromatin interactions
ENSG00000136950	chromatin interactions
ENSG00000066933	chromatin interactions
ENSG00000206597	chromatin interactions
ENSG00000166192	chromatin interactions
ENSG00000226877	chromatin interactions
ENSG00000165138	chromatin interactions
ENSG00000182809	chromatin interactions
ENSG00000254473	chromatin interactions
ENSG00000156508	chromatin interactions
ENSG00000135018	chromatin interactions
ENSG00000165119	chromatin interactions
ENSG00000165115	chromatin interactions
ENSG00000197506	chromatin interactions
ENSG00000062716	chromatin interactions
ENSG00000178966	chromatin interactions
ENSG00000165118	chromatin interactions
ENSG00000165113	chromatin interactions
HUWE1	Mature miRNA region
SMS	Mature miRNA region
CTC1	Mature miRNA region
TBC1D1	Mature miRNA region
CIRH1A	Mature miRNA region
CDC5L	Mature miRNA region
ZNF792	Mature miRNA region

Extended variants
information (count: 4732 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:4732 , 50 per page) page: 1 2 3 4 5 6 7 ... 95

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556674308	chr9:86469724-86469725	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs574860233	chr9:86469741-86469742	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs190169011	chr9:86469828-86469829	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs561998216	chr9:86469832-86469833	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs143222691	chr9:86469944-86469945	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs74956039	chr9:86469965-86469966	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs111988278	chr9:86469973-86469974	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs541749537	chr9:86470076-86470077	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs369191382	chr9:86470106-86470107	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs533601577	chr9:86470116-86470117	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs181559807	chr9:86470149-86470150	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs150346689	chr9:86470157-86470158	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs145124582	chr9:86470194-86470195	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs563785346	chr9:86470205-86470206	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs530896166	chr9:86470253-86470254	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs549399974	chr9:86470295-86470296	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs567525030	chr9:86470376-86470377	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs534611794	chr9:86470397-86470398	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs546903658	chr9:86470451-86470452	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs571340583	chr9:86470522-86470523	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs2778399	chr9:86470592-86470593	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs374152765	chr9:86470658-86470659	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs538843372	chr9:86470699-86470700	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs141244033	chr9:86470702-86470703	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs556612194	chr9:86470709-86470710	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs568615732	chr9:86470730-86470731	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs185933009	chr9:86470747-86470748	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs554133115	chr9:86470750-86470751	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs572841241	chr9:86470767-86470768	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs2780150	chr9:86470923-86470924	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs201752489	chr9:86470932-86470933	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs113789921	chr9:86471001-86471002	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs112942631	chr9:86471167-86471168	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs531549546	chr9:86471292-86471293	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs371399685	chr9:86471293-86471294	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs541340302	chr9:86471331-86471332	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs28406276	chr9:86471379-86471380	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs13293369	chr9:86471380-86471381	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs13293371	chr9:86471386-86471387	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs207470328	chr9:86471389-86471390	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs13293395	chr9:86471420-86471421	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs13294788	chr9:86471439-86471440	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs553663603	chr9:86471453-86471454	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs148109353	chr9:86471462-86471463	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs111607165	chr9:86471470-86471471	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs141961027	chr9:86471473-86471474	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs551066304	chr9:86471504-86471505	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs150659573	chr9:86471513-86471514	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs295275	chr9:86471525-86471526	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs543192142	chr9:86471527-86471528	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Urothelial cell carcinoma	18451213	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Renal cell carcinoma	18765545	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:2552 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:86447800-86470800	Weak transcription	Brain Germinal Matrix	brain
2	chr9:86456600-86472600	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr9:86460000-86474000	Weak transcription	Adipose Nuclei	Adipose
4	chr9:86460600-86518200	Weak transcription	Thymus	Thymus
5	chr9:86461600-86535400	Weak transcription	Fetal Intestine Small	intestine
6	chr9:86461600-86535400	Weak transcription	Ovary	ovary
7	chr9:86462200-86471200	Weak transcription	Liver	Liver
8	chr9:86462200-86475400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr9:86462200-86535200	Weak transcription	Fetal Brain Female	brain
10	chr9:86462400-86482400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr9:86462600-86499200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr9:86462600-86500600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr9:86462600-86503800	Weak transcription	Dnd41	blood
14	chr9:86462600-86535200	Weak transcription	Brain Anterior Caudate	brain
15	chr9:86462800-86471200	Weak transcription	Fetal Lung	lung
16	chr9:86462800-86515000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr9:86462800-86518000	Weak transcription	Fetal Intestine Large	intestine
18	chr9:86462800-86518000	Weak transcription	Fetal Stomach	stomach
19	chr9:86472000-86476000	Weak transcription	Small Intestine	intestine
20	chr9:86481000-86535800	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr9:86482000-86518000	Weak transcription	Left Ventricle	heart
22	chr9:86482400-86483000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr9:86483000-86487600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr9:86484000-86487400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr9:86486600-86494400	Weak transcription	Aorta	Aorta
26	chr9:86490400-86490800	Enhancers	Fetal Heart	heart
27	chr9:86490400-86510800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr9:86491000-86495600	Weak transcription	Small Intestine	intestine
29	chr9:86491000-86535200	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr9:86491200-86502200	Weak transcription	Brain Germinal Matrix	brain
31	chr9:86491200-86535200	Weak transcription	Primary hematopoietic stem cells	blood
32	chr9:86491400-86518000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr9:86491800-86518200	Weak transcription	Primary B cells from cord blood	blood
34	chr9:86492000-86500600	Weak transcription	Fetal Lung	lung
35	chr9:86493600-86500000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr9:86495000-86518000	Weak transcription	Primary T cells from cord blood	blood
37	chr9:86496000-86535000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr9:86496200-86496400	Enhancers	Hela-S3	cervix
39	chr9:86496400-86497000	Enhancers	HMEC	breast
40	chr9:86496400-86500400	Weak transcription	Hela-S3	cervix
41	chr9:86496400-86533000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr9:86496600-86515600	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr9:86497000-86497400	Weak transcription	HMEC	breast
44	chr9:86497200-86497800	Enhancers	NHEK	skin
45	chr9:86497400-86497600	Enhancers	HMEC	breast
46	chr9:86497600-86499800	Weak transcription	HMEC	breast
47	chr9:86497800-86500200	Weak transcription	NHEK	skin
48	chr9:86498800-86504000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr9:86499200-86500000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr9:86499200-86500800	Weak transcription	Duodenum Mucosa	Duodenum

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