Variant report

Variant	nsv893440
Chromosome Location	chr9:73225802-73434585
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:73297344-73297615	HepG2	liver:	n/a	n/a
2	BACH1	chr9:73368475-73368481	H1-hESC	embryonic stem cell:	n/a	n/a
3	BHLHE40	chr9:73233761-73234021	K562	blood:	n/a	n/a
4	CCNT2	chr9:73231396-73231524	K562	blood:	n/a	n/a
5	CEBPB	chr9:73361662-73361969	HepG2	liver:	n/a	chr9:73361819-73361832 chr9:73361819-73361830 chr9:73361821-73361832 chr9:73361821-73361830
6	CEBPB	chr9:73434495-73434695	A549	lung:	n/a	chr9:73434566-73434579 chr9:73434566-73434579
7	CEBPB	chr9:73361705-73361987	MCF-7	breast:	n/a	chr9:73361819-73361832 chr9:73361819-73361830 chr9:73361821-73361832 chr9:73361821-73361830
8	CEBPB	chr9:73297379-73297599	HepG2	liver:	n/a	n/a
9	CEBPB	chr9:73417179-73417517	A549	lung:	n/a	chr9:73417337-73417348
10	CEBPB	chr9:73357563-73357733	IMR90	lung:	n/a	chr9:73357693-73357704
11	CEBPB	chr9:73417167-73417501	IMR90	lung:	n/a	chr9:73417337-73417348
12	CEBPB	chr9:73294822-73295140	Hela-S3	cervix:	n/a	chr9:73294958-73294969 chr9:73294958-73294969 chr9:73294956-73294969
13	CEBPB	chr9:73357607-73357810	A549	lung:	n/a	chr9:73357693-73357704
14	CEBPB	chr9:73293943-73294161	IMR90	lung:	n/a	n/a
15	CEBPB	chr9:73396149-73396240	HepG2	liver:	n/a	chr9:73396191-73396202
16	CEBPB	chr9:73396125-73396327	H1-hESC	embryonic stem cell:	n/a	chr9:73396191-73396202
17	CEBPB	chr9:73357619-73357834	HepG2	liver:	n/a	chr9:73357693-73357704
18	CEBPB	chr9:73417248-73417443	K562	blood:	n/a	chr9:73417337-73417348
19	CEBPB	chr9:73361667-73361979	Hela-S3	cervix:	n/a	chr9:73361819-73361832 chr9:73361819-73361830 chr9:73361821-73361832 chr9:73361821-73361830
20	CEBPB	chr9:73417179-73417496	HepG2	liver:	n/a	chr9:73417337-73417348
21	CEBPB	chr9:73361709-73361869	IMR90	lung:	n/a	chr9:73361819-73361832 chr9:73361819-73361830 chr9:73361821-73361832 chr9:73361821-73361830
22	CHD2	chr9:73255528-73255650	HepG2	liver:	n/a	n/a
23	CTCF	chr9:73255200-73255350	GM12871	blood:	n/a	chr9:73255293-73255301 chr9:73255290-73255311 chr9:73255291-73255304 chr9:73255289-73255305 chr9:73255288-73255306
24	CTCF	chr9:73255200-73255350	HPF	lung:	n/a	chr9:73255293-73255301 chr9:73255290-73255311 chr9:73255291-73255304 chr9:73255289-73255305 chr9:73255288-73255306
25	CTCF	chr9:73244120-73244270	SK-N-SH_RA	brain:	n/a	chr9:73244159-73244177 chr9:73244161-73244182 chr9:73244164-73244174 chr9:73244160-73244176
26	CTCF	chr9:73244100-73244250	AG10803	skin:	n/a	chr9:73244159-73244177 chr9:73244161-73244182 chr9:73244164-73244174 chr9:73244160-73244176
27	CTCF	chr9:73254997-73255042	GM10266	blood:	n/a	n/a
28	CTCF	chr9:73243860-73244010	HMF	breast:	n/a	n/a
29	CTCF	chr9:73255200-73255350	WERI-Rb-1	eye:	n/a	chr9:73255293-73255301 chr9:73255290-73255311 chr9:73255291-73255304 chr9:73255289-73255305 chr9:73255288-73255306
30	CTCF	chr9:73254740-73254890	HMEC	breast:	n/a	n/a
31	CTCF	chr9:73255013-73255054	A549	lung:	n/a	chr9:73255043-73255053
32	CTCF	chr9:73255200-73255350	HMF	breast:	n/a	chr9:73255293-73255301 chr9:73255290-73255311 chr9:73255291-73255304 chr9:73255289-73255305 chr9:73255288-73255306
33	CTCF	chr9:73244080-73244230	A549	lung:	n/a	chr9:73244159-73244177 chr9:73244161-73244182 chr9:73244164-73244174 chr9:73244160-73244176
34	CTCF	chr9:73255267-73255356	ProgFib	skin:	n/a	chr9:73255293-73255301 chr9:73255290-73255311 chr9:73255291-73255304 chr9:73255289-73255305 chr9:73255288-73255306
35	CTCF	chr9:73345821-73345929	MCF-7	breast:	n/a	chr9:73345846-73345859 chr9:73345844-73345862
36	CTCF	chr9:73244080-73244230	NHEK	skin:	n/a	chr9:73244159-73244177 chr9:73244161-73244182 chr9:73244164-73244174 chr9:73244160-73244176
37	CTCF	chr9:73254818-73255745	SK-N-SH	brain:	n/a	chr9:73255293-73255301 chr9:73255290-73255311 chr9:73255291-73255304 chr9:73254878-73254891 chr9:73255289-73255305 chr9:73255043-73255053 chr9:73255288-73255306
38	CTCF	chr9:73244060-73244210	RPTEC	kidney:	n/a	chr9:73244159-73244177 chr9:73244161-73244182 chr9:73244164-73244174 chr9:73244160-73244176
39	CTCF	chr9:73244051-73244283	Hela-S3	cervix:	n/a	chr9:73244159-73244177 chr9:73244161-73244182 chr9:73244164-73244174 chr9:73244160-73244176
40	CTCF	chr9:73255220-73255370	HMF	breast:	n/a	chr9:73255293-73255301 chr9:73255290-73255311 chr9:73255291-73255304 chr9:73255289-73255305 chr9:73255288-73255306
41	CTCF	chr9:73255240-73255390	RPTEC	kidney:	n/a	chr9:73255293-73255301 chr9:73255290-73255311 chr9:73255291-73255304 chr9:73255289-73255305 chr9:73255288-73255306
42	CTCF	chr9:73255220-73255370	HMEC	breast:	n/a	chr9:73255293-73255301 chr9:73255290-73255311 chr9:73255291-73255304 chr9:73255289-73255305 chr9:73255288-73255306
43	CTCF	chr9:73255180-73255330	NHLF	lung:	n/a	chr9:73255293-73255301 chr9:73255290-73255311 chr9:73255291-73255304 chr9:73255289-73255305 chr9:73255288-73255306
44	CTCF	chr9:73244140-73244290	HAc	cerebellar:	n/a	chr9:73244159-73244177 chr9:73244161-73244182 chr9:73244164-73244174 chr9:73244160-73244176
45	CTCF	chr9:73255220-73255370	GM12867	blood:	n/a	chr9:73255293-73255301 chr9:73255290-73255311 chr9:73255291-73255304 chr9:73255289-73255305 chr9:73255288-73255306
46	CTCF	chr9:73256780-73256930	HAc	cerebellar:	n/a	n/a
47	CTCF	chr9:73244080-73244230	SAEC	small airway:	n/a	chr9:73244159-73244177 chr9:73244161-73244182 chr9:73244164-73244174 chr9:73244160-73244176
48	CTCF	chr9:73255240-73255390	HUVEC	blood vessel:	n/a	chr9:73255293-73255301 chr9:73255290-73255311 chr9:73255291-73255304 chr9:73255289-73255305 chr9:73255288-73255306
49	CTCF	chr9:73255200-73255350	HEEpiC	esophagus:	n/a	chr9:73255293-73255301 chr9:73255290-73255311 chr9:73255291-73255304 chr9:73255289-73255305 chr9:73255288-73255306
50	CTCF	chr9:73257795-73257868	MCF-7	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:73424620-73424670	HMEC	breast:	n/a
2	chr9:73404674-73404724	HCT-116	colon:	n/a
3	chr9:73404674-73404724	GM06990	blood:	n/a
4	chr9:73425008-73425058	AG04449	skin:	fetal
5	chr9:73425008-73425058	Hela-S3	cervix:	n/a
6	chr9:73424620-73424670	NH-A	brain:	n/a
7	chr9:73404674-73404724	HCM	heart:	n/a
8	chr9:73404674-73404724	NT2-D1	testis:	n/a
9	chr9:73425008-73425058	PFSK-1	brain:	n/a
10	chr9:73424620-73424670	AG09319	gingival:	n/a
11	chr9:73404674-73404724	ProgFib	skin:	n/a
12	chr9:73425008-73425058	NHDF-neo	bronchial:	n/a
13	chr9:73424620-73424670	GM19239	blood:	n/a
14	chr9:73425008-73425058	HEK293	kidney:	embryo
15	chr9:73425008-73425058	SK-N-MC	brain:	n/a
16	chr9:73425008-73425058	AG09309	skin:	n/a
17	chr9:73404674-73404724	AG04450	lung:	fetal
18	chr9:73424620-73424670	Hepatocyte	liver:	n/a
19	chr9:73404674-73404724	SK-N-SH_RA	brain:	n/a
20	chr9:73425008-73425058	CMK	blood:	n/a
21	chr9:73424620-73424670	K562	blood:	n/a
22	chr9:73425008-73425058	Jurkat	blood:	n/a
23	chr9:73425008-73425058	HMEC	breast:	n/a
24	chr9:73424620-73424670	GM12878	blood:	n/a
25	chr9:73424620-73424670	NB4	blood:	n/a
26	chr9:73424620-73424670	HepG2	liver:	n/a
27	chr9:73424620-73424670	SAEC	small airway:	n/a
28	chr9:73404674-73404724	U87	brain:	n/a
29	chr9:73425008-73425058	GM06990	blood:	n/a
30	chr9:73425008-73425058	AoSMC	blood vessel:	n/a
31	chr9:73425008-73425058	NH-A	brain:	n/a
32	chr9:73425008-73425058	PANC-1	pancreas:	n/a
33	chr9:73425008-73425058	HUVEC	blood vessel:	n/a
34	chr9:73425008-73425058	Caco-2	colon:	n/a
35	chr9:73424620-73424670	AG10803	skin:	n/a
36	chr9:73424620-73424670	AoSMC	blood vessel:	n/a
37	chr9:73424620-73424670	SK-N-SH	brain:	n/a
38	chr9:73424620-73424670	SK-N-SH_RA	brain:	n/a
39	chr9:73404674-73404724	CMK	blood:	n/a
40	chr9:73404674-73404724	GM19239	blood:	n/a
41	chr9:73404674-73404724	IMR90	lung:	fetal
42	chr9:73424620-73424670	ECC-1	luminal epithelium:	n/a
43	chr9:73404674-73404724	SK-N-MC	brain:	n/a
44	chr9:73404674-73404724	Hepatocyte	liver:	n/a
45	chr9:73404674-73404724	HL-60	blood:	n/a
46	chr9:73424620-73424670	HCT-116	colon:	n/a
47	chr9:73425008-73425058	ProgFib	skin:	n/a
48	chr9:73425008-73425058	AG04450	lung:	fetal
49	chr9:73425008-73425058	HCF	heart:	n/a
50	chr9:73425008-73425058	HL-60	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:73254840..73255344-chr9:73864424..73865232,2	MCF-7	breast:
2	chr9:73383816..73386230-chr9:73386543..73389721,3	K562	blood:
3	chr9:73255235..73255857-chr9:73864357..73865338,4	K562	blood:
4	chr9:73254860..73255817-chr9:73616449..73617497,4	MCF-7	breast:
5	chr18:59774276..59776966-chr9:73379599..73382348,2	MCF-7	breast:
6	chr9:73431959..73434584-chr9:73436749..73439666,2	K562	blood:
7	chr9:73388721..73391490-chr9:73392243..73394708,2	K562	blood:
8	chr9:73383816..73386230-chr9:73386543..73388316,2	K562	blood:
9	chr9:73254771..73255648-chr9:73616037..73617011,3	MCF-7	breast:
10	chr9:73295277..73297439-chr9:73299280..73301528,2	MCF-7	breast:
11	chr9:73254797..73256065-chr9:73864206..73865490,4	MCF-7	breast:
12	chr9:73241463..73243883-chr9:73244877..73247072,2	K562	blood:
13	chr9:73254988..73255819-chr9:73539510..73540543,3	MCF-7	breast:
14	chr9:73388721..73391490-chr9:73392243..73394708,2	K562	blood:
15	chr9:73254932..73255761-chr9:73617955..73618780,2	MCF-7	breast:
16	chr9:73254957..73255757-chr9:73616404..73617314,2	K562	blood:
17	chr9:73033950..73036811-chr9:73248158..73250341,2	K562	blood:
18	chr9:73244111..73244669-chr9:73864570..73865253,2	MCF-7	breast:
19	chr9:73241463..73243883-chr9:73244877..73247072,2	K562	blood:
20	chr9:73383816..73386230-chr9:73386543..73389721,3	K562	blood:
21	chr9:73295277..73297439-chr9:73299280..73301528,2	MCF-7	breast:
22	chr1:179675209..179676135-chr9:73423582..73424102,2	MCF-7	breast:
23	chr9:73383816..73386230-chr9:73386543..73388316,2	K562	blood:
24	chr9:73222069..73224603-chr9:73228006..73230812,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SMC5-2	chr9:73340956-73341141	ENSG00000223966.1
2	lnc-SMC5-2	chr9:73345622-73345772	ENSG00000223966.1
3	lnc-SMC5-1	chr9:73327629-73327779	ENSG00000232086.1
4	lnc-SMC5-1	chr9:73322963-73323148	ENSG00000232086.1

miRNA name	Chromosome Location	mirBase accession
hsa-miR-204-3p	chr9:73424909-73424929	MIMAT0022693
hsa-miR-204-5p	chr9:73424947-73424968	MIMAT0000265

Variant related genes	Relation type
MIR204	TF binding region
ENSG00000223966	TF binding region
ENSG00000232086	TF binding region
MIR204	CpG island
ENSG00000223966	CpG island
ENSG00000232086	CpG island
COL5A3	Mature miRNA region
FZD1	Mature miRNA region
MAPRE2	Mature miRNA region
GIGYF1	Mature miRNA region
CCNT2	Mature miRNA region
ARHGAP29	Mature miRNA region
M6PR	Mature miRNA region
IL1RAP	Mature miRNA region
MCL1	Mature miRNA region
BEX2	Mature miRNA region
IL1B	Mature miRNA region
AP1S2	Mature miRNA region
TCF12	Mature miRNA region
HAS2	Mature miRNA region
CREB5	Mature miRNA region
RAB22A	Mature miRNA region
EFNB2	Mature miRNA region
BIRC2	Mature miRNA region
BRD2	Mature miRNA region
IL8	Mature miRNA region
EDEM1	Mature miRNA region
BCL2	Mature miRNA region
CDH2	Mature miRNA region
ENO1	Mature miRNA region
FOXC1	Mature miRNA region
MYOC	Mature miRNA region
SERINC3	Mature miRNA region
MEIS1	Mature miRNA region
ST3GAL1	Mature miRNA region
FARP1	Mature miRNA region
TCF4	Mature miRNA region
HACL1	Mature miRNA region
CXCL3	Mature miRNA region
TEC	Mature miRNA region
BPTF	Mature miRNA region
HSP90AA1	Mature miRNA region
SOX4	Mature miRNA region
RAB40B	Mature miRNA region
AKAP1	Mature miRNA region
IL11	Mature miRNA region
AP1S1	Mature miRNA region
CSDE1	Mature miRNA region
JARID2	Mature miRNA region
WNK3	Mature miRNA region
RPL3	Mature miRNA region
ELOVL6	Mature miRNA region
SPDEF	Mature miRNA region
SERPINE1	Mature miRNA region
MEIS2	Mature miRNA region
SOST	Mature miRNA region
THRB	Mature miRNA region
SNAI1	Mature miRNA region
ALPL	Mature miRNA region
MAP1LC3B	Mature miRNA region
IPO7	Mature miRNA region
USP14	Mature miRNA region
SERP1	Mature miRNA region
HOXA10	Mature miRNA region
EZR	Mature miRNA region
ATP2B1	Mature miRNA region
BCL2L2-PABPN1	Mature miRNA region
PLAT	Mature miRNA region
UTP14A	Mature miRNA region
PRKAR1A	Mature miRNA region
CDX2	Mature miRNA region
RPLP1	Mature miRNA region
TGFBR2	Mature miRNA region
TGFBR1	Mature miRNA region
ITGB3	Mature miRNA region
HIST4H4	Mature miRNA region
SNAI2	Mature miRNA region
PLAUR	Mature miRNA region
RUNX2	Mature miRNA region

Extended variants
information (count: 5860 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:5860 , 50 per page) page: 1 2 3 4 5 6 7 ... 118

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3763619	chr9:73225802-73225803	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs553788583	chr9:73225818-73225819	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs572173778	chr9:73225833-73225834	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs542643074	chr9:73225837-73225838	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs371256245	chr9:73225846-73225847	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs548060424	chr9:73225856-73225857	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs142028730	chr9:73225916-73225917	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs532918744	chr9:73225936-73225937	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs374908069	chr9:73225964-73225965	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs188062274	chr9:73225973-73225974	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs577373189	chr9:73226005-73226006	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs533983439	chr9:73226007-73226008	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs111973769	chr9:73226010-73226011	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs574372570	chr9:73226040-73226041	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs565653893	chr9:73226078-73226079	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs544949823	chr9:73226152-73226153	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs563064516	chr9:73226217-73226218	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs533538567	chr9:73226221-73226222	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs545284238	chr9:73226260-73226261	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs111530059	chr9:73226308-73226309	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs148986971	chr9:73226309-73226310	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs116138496	chr9:73226347-73226348	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs369267936	chr9:73226360-73226361	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs112812664	chr9:73226371-73226372	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs376645182	chr9:73226389-73226390	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs72718987	chr9:73226393-73226394	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs142905569	chr9:73226489-73226490	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs547322512	chr9:73226538-73226539	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs59663306	chr9:73226557-73226558	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs1339900	chr9:73226561-73226562	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs554583723	chr9:73226577-73226578	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs147597801	chr9:73226621-73226622	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs536666446	chr9:73226631-73226632	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs142060696	chr9:73226664-73226665	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs568910346	chr9:73226680-73226681	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs192632391	chr9:73226681-73226682	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs545572978	chr9:73226820-73226821	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs560554809	chr9:73226830-73226831	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs145809307	chr9:73226842-73226843	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs368771088	chr9:73226849-73226850	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs182411923	chr9:73226853-73226854	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs62545505	chr9:73226936-73226937	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs549909475	chr9:73226956-73226957	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs538458775	chr9:73226979-73226980	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs565181760	chr9:73227015-73227016	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs187894222	chr9:73227078-73227079	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs138668701	chr9:73227127-73227128	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs565910585	chr9:73227166-73227167	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs192370393	chr9:73227167-73227168	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs548276277	chr9:73227186-73227187	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Breast cancer	17133270	CNVD
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
Melanoma	22183965	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
Acute myeloid leukemia	20729466	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Oral cancer	21386901	CNVD
Epilepsy	22083797	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22522925	CNVD
Intellectual disability	21811512	CNVD
Autism	21484199	CNVD
Breast cancer	22737080	CNVD
Malignant peripheral nerve sheath tumor	22811580	CNVD
Leprosy	22719964	CNVD
Primary ovarian insufficiency	22879975	CNVD
Malignant melanoma	17260012	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD

Chromatin state (count:649 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:73206600-73227800	Weak transcription	Aorta	Aorta
2	chr9:73215800-73236800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr9:73216000-73227600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr9:73217000-73230200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr9:73217400-73231200	Weak transcription	Fetal Brain Female	brain
6	chr9:73217400-73233400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr9:73217400-73242400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr9:73217600-73236400	Weak transcription	Fetal Kidney	kidney
9	chr9:73217800-73228600	Weak transcription	Brain Anterior Caudate	brain
10	chr9:73218000-73228400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr9:73218000-73229800	Weak transcription	Fetal Brain Male	brain
12	chr9:73219800-73228000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr9:73220400-73227600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr9:73222600-73226000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr9:73223400-73228400	Weak transcription	Left Ventricle	heart
16	chr9:73223600-73230000	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr9:73224400-73226400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr9:73224600-73226800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr9:73224600-73229400	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr9:73224800-73227800	Weak transcription	Fetal Lung	lung
21	chr9:73224800-73229400	Weak transcription	Brain Angular Gyrus	brain
22	chr9:73224800-73241600	Weak transcription	Ovary	ovary
23	chr9:73225000-73228800	Weak transcription	Adipose Nuclei	Adipose
24	chr9:73225000-73228800	Weak transcription	Colon Smooth Muscle	Colon
25	chr9:73225200-73226600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr9:73225200-73227800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr9:73225200-73227800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr9:73225200-73227800	Weak transcription	Right Atrium	heart
29	chr9:73225200-73227800	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr9:73225200-73227800	Weak transcription	HSMMtube	muscle
31	chr9:73225200-73228000	Weak transcription	NHLF	lung
32	chr9:73225200-73228400	Weak transcription	Fetal Heart	heart
33	chr9:73225200-73228600	Weak transcription	Brain Hippocampus Middle	brain
34	chr9:73225200-73229600	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr9:73225200-73229800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr9:73225200-73229800	Weak transcription	HSMM	muscle
37	chr9:73225200-73230000	Weak transcription	Right Ventricle	heart
38	chr9:73225400-73226800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr9:73225400-73227600	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr9:73225400-73228800	Weak transcription	Brain Substantia Nigra	brain
41	chr9:73225400-73229600	Weak transcription	Brain Cingulate Gyrus	brain
42	chr9:73225600-73227800	Weak transcription	Psoas Muscle	Psoas
43	chr9:73225600-73228400	Weak transcription	Fetal Muscle Leg	muscle
44	chr9:73225600-73230200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr9:73226000-73227800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr9:73226400-73228200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr9:73226800-73227800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr9:73226800-73229200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr9:73227200-73230000	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr9:73227200-73236600	Weak transcription	H1 Cell Line	embryonic stem cell

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