Variant report

Variant	nsv1049132
Chromosome Location	chr9:72895382-73005897
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	chr9:72949588-72949758	K562	blood:	n/a	n/a
2	ARID3A	chr9:72919759-72920057	HepG2	liver:	n/a	n/a
3	ARID3A	chr9:72955526-72955778	HepG2	liver:	n/a	n/a
4	ARID3A	chr9:72955515-72955832	K562	blood:	n/a	n/a
5	BHLHE40	chr9:72960521-72960567	GM12878	blood:	n/a	n/a
6	BHLHE40	chr9:72990200-72990400	K562	blood:	n/a	n/a
7	BRCA1	chr9:72942787-72942802	GM12878	blood:	n/a	n/a
8	BRCA1	chr9:72979870-72980000	Hela-S3	cervix:	n/a	n/a
9	CBX3	chr9:72943512-72943910	K562	blood:	n/a	n/a
10	CBX3	chr9:72907284-72907572	K562	blood:	n/a	n/a
11	CCNT2	chr9:72965554-72965746	K562	blood:	n/a	n/a
12	CEBPB	chr9:72937028-72937431	HCT-116	colon:	n/a	chr9:72937205-72937214 chr9:72937413-72937424 chr9:72937205-72937214 chr9:72937203-72937216 chr9:72937205-72937214 chr9:72937413-72937424 chr9:72937205-72937214 chr9:72937203-72937216 chr9:72937203-72937214
13	CEBPB	chr9:72937027-72937393	K562	blood:	n/a	chr9:72937205-72937214 chr9:72937205-72937214 chr9:72937203-72937216 chr9:72937205-72937214 chr9:72937205-72937214 chr9:72937203-72937216 chr9:72937203-72937214
14	CEBPB	chr9:72936996-72937402	Hela-S3	cervix:	n/a	chr9:72937205-72937214 chr9:72937205-72937214 chr9:72937203-72937216 chr9:72937205-72937214 chr9:72937205-72937214 chr9:72937203-72937216 chr9:72937203-72937214
15	CEBPB	chr9:72918162-72918615	ECC-1	luminal epithelium:	n/a	chr9:72918366-72918379
16	CEBPB	chr9:72937018-72937404	H1-hESC	embryonic stem cell:	n/a	chr9:72937205-72937214 chr9:72937205-72937214 chr9:72937203-72937216 chr9:72937205-72937214 chr9:72937205-72937214 chr9:72937203-72937216 chr9:72937203-72937214
17	CEBPB	chr9:72909341-72909645	K562	blood:	n/a	chr9:72909473-72909484
18	CEBPB	chr9:72946693-72946923	IMR90	lung:	n/a	n/a
19	CEBPB	chr9:72936994-72937415	K562	blood:	n/a	chr9:72937205-72937214 chr9:72937205-72937214 chr9:72937203-72937216 chr9:72937205-72937214 chr9:72937205-72937214 chr9:72937203-72937216 chr9:72937203-72937214
20	CEBPB	chr9:72936842-72937493	A549	lung:	n/a	chr9:72937205-72937214 chr9:72937413-72937424 chr9:72937205-72937214 chr9:72937203-72937216 chr9:72937205-72937214 chr9:72937413-72937424 chr9:72937205-72937214 chr9:72937203-72937216 chr9:72937203-72937214
21	CEBPB	chr9:72909313-72909632	IMR90	lung:	n/a	chr9:72909473-72909484
22	CEBPB	chr9:72909324-72909642	A549	lung:	n/a	chr9:72909473-72909484
23	CEBPB	chr9:72918174-72918510	K562	blood:	n/a	chr9:72918366-72918379
24	CEBPB	chr9:72977928-72978232	Hela-S3	cervix:	n/a	n/a
25	CEBPB	chr9:72900230-72900545	IMR90	lung:	n/a	n/a
26	CEBPB	chr9:72909312-72909646	HepG2	liver:	n/a	chr9:72909473-72909484
27	CEBPB	chr9:72937019-72937405	A549	lung:	n/a	chr9:72937205-72937214 chr9:72937205-72937214 chr9:72937203-72937216 chr9:72937205-72937214 chr9:72937205-72937214 chr9:72937203-72937216 chr9:72937203-72937214
28	CEBPB	chr9:72936931-72937437	MCF-7	breast:	n/a	chr9:72937205-72937214 chr9:72937413-72937424 chr9:72937205-72937214 chr9:72937203-72937216 chr9:72937205-72937214 chr9:72937413-72937424 chr9:72937205-72937214 chr9:72937203-72937216 chr9:72937203-72937214
29	CEBPB	chr9:72967830-72968009	K562	blood:	n/a	n/a
30	CEBPB	chr9:72937016-72937400	HepG2	liver:	n/a	chr9:72937205-72937214 chr9:72937205-72937214 chr9:72937203-72937216 chr9:72937205-72937214 chr9:72937205-72937214 chr9:72937203-72937216 chr9:72937203-72937214
31	CEBPB	chr9:72937029-72937417	MCF-7	breast:	n/a	chr9:72937205-72937214 chr9:72937205-72937214 chr9:72937203-72937216 chr9:72937205-72937214 chr9:72937205-72937214 chr9:72937203-72937216 chr9:72937203-72937214
32	CEBPB	chr9:72918211-72918561	A549	lung:	n/a	chr9:72918366-72918379
33	CEBPB	chr9:72936967-72937395	A549	lung:	n/a	chr9:72937205-72937214 chr9:72937205-72937214 chr9:72937203-72937216 chr9:72937205-72937214 chr9:72937205-72937214 chr9:72937203-72937216 chr9:72937203-72937214
34	CEBPB	chr9:72937081-72937213	HepG2	liver:	n/a	n/a
35	CEBPB	chr9:72918160-72918542	A549	lung:	n/a	chr9:72918366-72918379
36	CEBPB	chr9:72978035-72978238	K562	blood:	n/a	n/a
37	CEBPB	chr9:72918202-72918555	HepG2	liver:	n/a	chr9:72918366-72918379
38	CEBPB	chr9:72918741-72918770	H1-hESC	embryonic stem cell:	n/a	n/a
39	CEBPB	chr9:72936973-72937495	ECC-1	luminal epithelium:	n/a	chr9:72937205-72937214 chr9:72937413-72937424 chr9:72937205-72937214 chr9:72937203-72937216 chr9:72937205-72937214 chr9:72937413-72937424 chr9:72937205-72937214 chr9:72937203-72937216 chr9:72937203-72937214
40	CEBPB	chr9:72937015-72937402	IMR90	lung:	n/a	chr9:72937205-72937214 chr9:72937205-72937214 chr9:72937203-72937216 chr9:72937205-72937214 chr9:72937205-72937214 chr9:72937203-72937216 chr9:72937203-72937214
41	CEBPB	chr9:72918244-72918542	Hela-S3	cervix:	n/a	chr9:72918366-72918379
42	CEBPB	chr9:72918187-72918653	A549	lung:	n/a	chr9:72918366-72918379
43	CEBPB	chr9:72918175-72918815	K562	blood:	n/a	chr9:72918366-72918379
44	CEBPB	chr9:72918261-72918482	H1-hESC	embryonic stem cell:	n/a	chr9:72918366-72918379
45	CEBPB	chr9:72937089-72937336	K562	blood:	n/a	chr9:72937205-72937214 chr9:72937205-72937214 chr9:72937203-72937216 chr9:72937205-72937214 chr9:72937205-72937214 chr9:72937203-72937216 chr9:72937203-72937214
46	CEBPB	chr9:72937007-72937463	ECC-1	luminal epithelium:	n/a	chr9:72937205-72937214 chr9:72937413-72937424 chr9:72937205-72937214 chr9:72937203-72937216 chr9:72937205-72937214 chr9:72937413-72937424 chr9:72937205-72937214 chr9:72937203-72937216 chr9:72937203-72937214
47	CEBPB	chr9:72918139-72918603	HCT-116	colon:	n/a	chr9:72918366-72918379
48	CEBPB	chr9:72940148-72940204	HepG2	liver:	n/a	chr9:72940169-72940180
49	CEBPB	chr9:72918196-72918570	IMR90	lung:	n/a	chr9:72918366-72918379
50	CEBPB	chr9:72977928-72978268	IMR90	lung:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:72978571-72978621	HUVEC	blood vessel:	n/a
2	chr9:72899321-72899371	HRPEpiC	eye:	n/a
3	chr9:72978571-72978621	LNCaP	prostate:	n/a
4	chr9:72899321-72899371	ovcar-3	ovarian:	n/a
5	chr9:72978571-72978621	HepG2	liver:	n/a
6	chr9:72899321-72899371	MCF10A-Er-Src	breast:	n/a
7	chr9:72978571-72978621	ECC-1	luminal epithelium:	n/a
8	chr9:72978571-72978621	AoSMC	blood vessel:	n/a
9	chr9:72899321-72899371	LNCaP	prostate:	n/a
10	chr9:72978571-72978621	GM19239	blood:	n/a
11	chr9:72978571-72978621	PrEC	prostate:	n/a
12	chr9:72978571-72978621	NHBE	bronchial:	n/a
13	chr9:72899321-72899371	HEK293	kidney:	embryo
14	chr9:72978571-72978621	Jurkat	blood:	n/a
15	chr9:72978571-72978621	NH-A	brain:	n/a
16	chr9:72978571-72978621	HEK293	kidney:	embryo
17	chr9:72978571-72978621	HMEC	breast:	n/a
18	chr9:72978571-72978621	MCF-7	breast:	n/a
19	chr9:72978571-72978621	HCT-116	colon:	n/a
20	chr9:72899321-72899371	GM12892	blood:	n/a
21	chr9:72899321-72899371	HRE	kidney:	n/a
22	chr9:72978571-72978621	SAEC	small airway:	n/a
23	chr9:72899321-72899371	HRCEpiC	kidney:	n/a
24	chr9:72978571-72978621	AG04450	lung:	fetal
25	chr9:72899321-72899371	SKMC	muscle:	n/a
26	chr9:72978571-72978621	SK-N-MC	brain:	n/a
27	chr9:72978571-72978621	GM12891	blood:	n/a
28	chr9:72899321-72899371	Hepatocyte	liver:	n/a
29	chr9:72899321-72899371	HIPEpiC	eye:	n/a
30	chr9:72899321-72899371	A549	lung:	n/a
31	chr9:72899321-72899371	PrEC	prostate:	n/a
32	chr9:72978571-72978621	T-47D	breast:	n/a
33	chr9:72899321-72899371	HCT-116	colon:	n/a
34	chr9:72899321-72899371	AG04449	skin:	fetal
35	chr9:72978571-72978621	HPAEpiC	pulmonary alveolar:	n/a
36	chr9:72899321-72899371	BE2_C	brain:	n/a
37	chr9:72978571-72978621	AG04449	skin:	fetal
38	chr9:72978571-72978621	HL-60	blood:	n/a
39	chr9:72978571-72978621	HCM	heart:	n/a
40	chr9:72978571-72978621	HCPEpiC	choroid plexus:	n/a
41	chr9:72978571-72978621	U87	brain:	n/a
42	chr9:72978571-72978621	BE2_C	brain:	n/a
43	chr9:72899321-72899371	AG09319	gingival:	n/a
44	chr9:72978571-72978621	PANC-1	pancreas:	n/a
45	chr9:72978571-72978621	NHDF-neo	bronchial:	n/a
46	chr9:72899321-72899371	HCM	heart:	n/a
47	chr9:72978571-72978621	HIPEpiC	eye:	n/a
48	chr9:72978571-72978621	A549	lung:	n/a
49	chr9:72899321-72899371	HAEpiC	amniotic membrane:	n/a
50	chr9:72899321-72899371	SK-N-SH	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:73001572..73004172-chr9:73004921..73008692,3	MCF-7	breast:
2	chr9:72930894..72933297-chr9:72934112..72936279,2	MCF-7	breast:
3	chr9:73005683..73007578-chr9:73011385..73014287,2	K562	blood:
4	chr9:72975577..72978310-chr9:73031242..73034147,2	K562	blood:
5	chr9:72912548..72915334-chr9:72916936..72919287,2	MCF-7	breast:
6	chr9:72947673..72949257-chr9:72951564..72953120,2	K562	blood:
7	chr9:72964340..72966710-chr9:73026261..73028857,3	K562	blood:
8	chr9:72903671..72905306-chr9:72912810..72915435,2	MCF-7	breast:
9	chr9:72872453..72875557-chr9:72928481..72931289,3	K562	blood:
10	chr9:72958849..72960599-chr9:72962750..72964507,2	MCF-7	breast:
11	chr9:72939453..72941323-chr9:72944240..72946981,2	MCF-7	breast:
12	chr9:72955339..72956157-chr9:73216775..73218041,5	K562	blood:
13	chr9:72968867..72970637-chr9:72974128..72976296,2	K562	blood:
14	chr9:72956192..72958167-chr9:72961321..72962901,2	K562	blood:
15	chr9:72974823..72977797-chr9:73034624..73036891,2	MCF-7	breast:
16	chr9:72972744..72974479-chr9:73034028..73036219,2	K562	blood:
17	chr9:72970286..72973007-chr9:72974824..72976368,2	MCF-7	breast:
18	chr9:72972401..72973961-chr9:72976176..72979020,2	K562	blood:
19	chr9:72871762..72875309-chr9:72918153..72920049,3	K562	blood:
20	chr9:72915207..72917805-chr9:72934554..72936144,2	K562	blood:
21	chr9:72960499..72963877-chr9:72974457..72977439,3	K562	blood:
22	chr9:72999288..73001948-chr9:73033254..73035882,2	K562	blood:
23	chr9:72910283..72912691-chr9:73035351..73037828,2	K562	blood:
24	chr9:72956192..72958167-chr9:72961321..72962901,2	K562	blood:
25	chr9:72967818..72968323-chr9:73217093..73217846,2	MCF-7	breast:
26	chr9:72904493..72907412-chr9:72913859..72916976,3	K562	blood:
27	chr9:72995584..72997971-chr9:73002948..73005254,2	K562	blood:
28	chr9:72957661..72959834-chr9:72968408..72970281,2	MCF-7	breast:
29	chr9:72912548..72915334-chr9:72916936..72919287,2	MCF-7	breast:
30	chr9:72955229..72956123-chr9:73099181..73099956,4	K562	blood:
31	chr9:72958849..72960599-chr9:72962750..72964507,2	MCF-7	breast:
32	chr9:72962840..72966479-chr9:72967543..72971409,5	K562	blood:
33	chr9:72957661..72959834-chr9:72968408..72970281,2	MCF-7	breast:
34	chr9:72873487..72875340-chr9:72915258..72917864,2	MCF-7	breast:
35	chr9:72996295..72998403-chr9:73003399..73005070,2	MCF-7	breast:
36	chr9:72892928..72895718-chr9:72895750..72898961,3	K562	blood:
37	chr9:73005141..73007223-chr9:73027079..73029094,2	MCF-7	breast:
38	chr9:72915207..72917805-chr9:72934554..72936144,2	K562	blood:
39	chr9:72968867..72970637-chr9:72974128..72976296,2	K562	blood:
40	chr9:73000797..73002520-chr9:73026593..73028395,2	K562	blood:
41	chr9:73001572..73004172-chr9:73004921..73008692,3	MCF-7	breast:
42	chr9:73003700..73006091-chr9:73034882..73037388,2	MCF-7	breast:
43	chr9:72955484..72956149-chr9:73217043..73217606,2	MCF-7	breast:
44	chr9:72972461..72974915-chr9:72975072..72979073,3	K562	blood:
45	chr9:72930894..72933297-chr9:72934112..72936279,2	MCF-7	breast:
46	chr9:72905525..72907442-chr9:72911391..72913609,2	MCF-7	breast:
47	chr9:72873371..72875621-chr9:72900313..72901949,2	MCF-7	breast:
48	chr9:72996295..72998403-chr9:73003399..73005070,2	MCF-7	breast:
49	chr9:72995584..72997971-chr9:73002948..73005254,2	K562	blood:
50	chr9:72897081..72899736-chr9:72903507..72905906,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SMC5-3	chr9:72990511-72991244	NONHSAT131814
2	lnc-SMC5-4	chr9:72991891-72992282	NONHSAT131815
3	lnc-SMC5-5	chr9:72997924-72998368	NONHSAT131816
4	lnc-MAMDC2-1	chr9:72935053-72937759	NONHSAT131812

No.	miRNA target gene	miRNA name	Chromosome Location
1	KLF9	hsa-miR-218-5p	chr9:73002523-73002517
2	KLF9	hsa-miR-33a-5p	chr9:73000062-73000083
3	KLF9	hsa-miR-93-5p	chr9:73001895-73001917
4	KLF9	hsa-miR-21-5p	chr9:73001902-73001923
5	KLF9	hsa-miR-200c-3p	chr9:72999644-72999666
6	KLF9	hsa-miR-200c-3p	chr9:72999650-72999643
7	KLF9	hsa-miR-218-5p	chr9:73002517-73002537

Variant related genes	Relation type
SMC5	TF binding region
ENSG00000239180	TF binding region
SMC5	CpG island
ENSG00000239180	CpG island
ENSG00000268364	chromatin interactions
ENSG00000119138	chromatin interactions
ENSG00000198887	chromatin interactions

Extended variants
information (count: 4008 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:4008 , 50 per page) page: 1 2 3 4 5 6 7 ... 81

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7857663	chr9:72895382-72895383	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs148338823	chr9:72895515-72895516	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs546252836	chr9:72895546-72895547	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs557686216	chr9:72895567-72895568	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs142628186	chr9:72895694-72895695	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs572677377	chr9:72895698-72895699	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs550415669	chr9:72895707-72895708	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs371519470	chr9:72895727-72895728	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs150260127	chr9:72895733-72895734	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs367630327	chr9:72895734-72895735	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs376696894	chr9:72895735-72895736	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs138944931	chr9:72895737-72895738	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs369776321	chr9:72895782-72895783	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs200422160	chr9:72895836-72895837	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs202184846	chr9:72895844-72895845	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs543866699	chr9:72895914-72895915	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs562475249	chr9:72895932-72895933	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs76788983	chr9:72895972-72895973	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs570413462	chr9:72896023-72896024	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs112259386	chr9:72896028-72896029	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs150742834	chr9:72896049-72896050	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs183656956	chr9:72896066-72896067	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs552874168	chr9:72896067-72896068	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs547358236	chr9:72896100-72896101	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs373041324	chr9:72896109-72896110	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs573019929	chr9:72896119-72896120	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs139065285	chr9:72896120-72896121	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs557100575	chr9:72896132-72896133	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs149872888	chr9:72896178-72896179	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs1180114	chr9:72896183-72896184	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs558227177	chr9:72896192-72896193	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs139981049	chr9:72896218-72896219	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs1180115	chr9:72896235-72896236	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs114084879	chr9:72896248-72896249	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs573620069	chr9:72896314-72896315	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs189151794	chr9:72896360-72896361	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs562377511	chr9:72896408-72896409	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs532917981	chr9:72896412-72896413	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs75210449	chr9:72896428-72896429	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs542178216	chr9:72896451-72896452	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs527340962	chr9:72896459-72896460	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs547218355	chr9:72896460-72896461	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs540949691	chr9:72896464-72896465	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs568644357	chr9:72896473-72896474	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs143457585	chr9:72896487-72896488	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs551241818	chr9:72896575-72896576	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs192603764	chr9:72896584-72896585	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs146725840	chr9:72896599-72896600	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs560452664	chr9:72896611-72896612	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs557687812	chr9:72896642-72896643	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Melanoma	22183965	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
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
Schizophrenia	23813976	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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:2698 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72875000-72949800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr9:72875200-72901400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr9:72875400-72906200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr9:72876000-72898200	Weak transcription	Fetal Brain Male	brain
5	chr9:72876000-72906200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr9:72876400-72916800	Weak transcription	Colonic Mucosa	Colon
7	chr9:72876400-72939400	Weak transcription	Spleen	Spleen
8	chr9:72876400-72942600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr9:72876400-72955200	Weak transcription	Stomach Mucosa	stomach
10	chr9:72876800-72900200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr9:72877000-72895400	Weak transcription	Right Ventricle	heart
12	chr9:72877000-72904800	Weak transcription	Brain Germinal Matrix	brain
13	chr9:72877000-72939800	Weak transcription	Gastric	stomach
14	chr9:72877000-72942800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr9:72877600-72909600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr9:72877600-72935800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr9:72878600-72899600	Weak transcription	Fetal Heart	heart
18	chr9:72878600-72899800	Weak transcription	Small Intestine	intestine
19	chr9:72878600-72902400	Weak transcription	Brain Angular Gyrus	brain
20	chr9:72878600-72937600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr9:72879000-72898600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr9:72880000-72895600	Weak transcription	Brain Substantia Nigra	brain
23	chr9:72880000-72939400	Weak transcription	Brain Cingulate Gyrus	brain
24	chr9:72880200-72895400	Weak transcription	NHEK	skin
25	chr9:72880200-72906200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr9:72880400-72895400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr9:72880400-72900200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr9:72880800-72895400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr9:72881000-72905000	Weak transcription	Brain Hippocampus Middle	brain
30	chr9:72881000-72905000	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr9:72881600-72895400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr9:72882800-72899800	Weak transcription	Ovary	ovary
33	chr9:72882800-72906000	Weak transcription	K562	blood
34	chr9:72883200-72899800	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr9:72884600-72899800	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr9:72885200-72895400	Weak transcription	NHLF	lung
37	chr9:72885400-72895800	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr9:72885400-72916800	Weak transcription	Esophagus	oesophagus
39	chr9:72885600-72895400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr9:72885600-72896000	Weak transcription	Left Ventricle	heart
41	chr9:72885800-72899800	Weak transcription	Thymus	Thymus
42	chr9:72885800-72900000	Weak transcription	Lung	lung
43	chr9:72886400-72895400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr9:72887600-72906200	Weak transcription	Psoas Muscle	Psoas
45	chr9:72887600-72916800	Weak transcription	Aorta	Aorta
46	chr9:72887800-72896800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr9:72887800-72897400	Weak transcription	Primary T cells from cord blood	blood
48	chr9:72888800-72898600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr9:72889400-72904200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr9:72890000-72905800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links