Variant report

Variant	nsv893735
Chromosome Location	chr9:115821854-115891009
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1351)
CpG islands
(count:915)
Chromatin interactive
region (count:26)
LncRNA
region (count:14)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1351 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr9:115823819-115824137	H1-hESC	embryonic stem cell:	n/a	n/a
2	BATF	chr9:115875188-115875441	GM12878	blood:	n/a	n/a
3	BATF	chr9:115873657-115873969	GM12878	blood:	n/a	n/a
4	BCL11A	chr9:115832606-115832828	GM12878	blood:	n/a	n/a
5	BCL11A	chr9:115826072-115826253	GM12878	blood:	n/a	n/a
6	BCL11A	chr9:115823884-115824048	H1-hESC	embryonic stem cell:	n/a	n/a
7	BCL11A	chr9:115827158-115827380	GM12878	blood:	n/a	n/a
8	BCL11A	chr9:115847856-115848037	GM12878	blood:	n/a	n/a
9	BCL11A	chr9:115838052-115838274	GM12878	blood:	n/a	n/a
10	BCL11A	chr9:115845492-115845756	GM12878	blood:	n/a	chr9:115845501-115845514 chr9:115845497-115845506
11	BCL11A	chr9:115848940-115849162	GM12878	blood:	n/a	n/a
12	BCL11A	chr9:115842414-115842595	GM12878	blood:	n/a	n/a
13	BCL11A	chr9:115840050-115840314	GM12878	blood:	n/a	chr9:115840059-115840072 chr9:115840055-115840064
14	BCL11A	chr9:115829156-115829420	GM12878	blood:	n/a	chr9:115829161-115829170 chr9:115829165-115829178
15	BCL11A	chr9:115834606-115834870	GM12878	blood:	n/a	chr9:115834615-115834628 chr9:115834611-115834620
16	BCL11A	chr9:115836967-115837148	GM12878	blood:	n/a	n/a
17	BCL11A	chr9:115831520-115831701	GM12878	blood:	n/a	n/a
18	BCL11A	chr9:115843494-115843716	GM12878	blood:	n/a	n/a
19	CBX3	chr9:115875083-115875868	K562	blood:	n/a	n/a
20	CBX3	chr9:115873150-115874076	K562	blood:	n/a	n/a
21	CCNT2	chr9:115862949-115863058	K562	blood:	n/a	n/a
22	CEBPB	chr9:115875081-115875193	H1-hESC	embryonic stem cell:	n/a	n/a
23	CEBPZ	chr9:115890537-115890588	HepG2	liver:	n/a	n/a
24	CHD1	chr9:115874170-115874171	GM12878	blood:	n/a	n/a
25	CHD2	chr9:115825423-115825439	Hela-S3	cervix:	n/a	n/a
26	CTBP2	chr9:115823828-115824165	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr9:115873960-115874110	HEEpiC	esophagus:	n/a	n/a
28	CTCF	chr9:115875000-115875150	A549	lung:	n/a	n/a
29	CTCF	chr9:115874360-115874510	GM12865	blood:	n/a	n/a
30	CTCF	chr9:115875020-115875170	NHDF-neo	bronchial:	n/a	n/a
31	CTCF	chr9:115874987-115875803	K562	blood:	n/a	chr9:115875291-115875309 chr9:115875292-115875308 chr9:115875294-115875307 chr9:115875294-115875307
32	CTCF	chr9:115875040-115875190	HMF	breast:	n/a	n/a
33	CTCF	chr9:115876515-115876675	MCF-7	breast:	n/a	chr9:115876598-115876611 chr9:115876596-115876614 chr9:115876602-115876611
34	CTCF	chr9:115875040-115875190	HBMEC	blood vessel:	n/a	n/a
35	CTCF	chr9:115875537-115875697	K562	blood:	n/a	n/a
36	CTCF	chr9:115873920-115874070	GM12865	blood:	n/a	n/a
37	CTCF	chr9:115874852-115875269	MCF-7	breast:	n/a	n/a
38	CTCF	chr9:115875092-115875454	LNCaP	prostate:	n/a	chr9:115875291-115875309 chr9:115875292-115875308 chr9:115875294-115875307 chr9:115875294-115875307
39	CTCF	chr9:115878595-115878753	K562	blood:	n/a	n/a
40	CTCF	chr9:115873700-115874001	A549	lung:	n/a	chr9:115873826-115873839 chr9:115873826-115873839 chr9:115873825-115873841 chr9:115873824-115873842
41	CTCF	chr9:115873765-115874329	K562	blood:	n/a	chr9:115873826-115873839 chr9:115873826-115873839 chr9:115873825-115873841 chr9:115873824-115873842
42	CTCF	chr9:115874183-115874402	K562	blood:	n/a	n/a
43	CTCF	chr9:115875062-115875405	HUVEC	blood vessel:	n/a	chr9:115875291-115875309 chr9:115875292-115875308 chr9:115875294-115875307 chr9:115875294-115875307
44	CTCF	chr9:115874791-115875279	HCT-116	colon:	n/a	n/a
45	CTCF	chr9:115875040-115875190	AG10803	skin:	n/a	n/a
46	CTCF	chr9:115873846-115875286	SK-N-SH	brain:	n/a	n/a
47	CTCF	chr9:115873960-115874110	AoAF	blood vessel:	n/a	n/a
48	CTCF	chr9:115872215-115872326	K562	blood:	n/a	n/a
49	CTCF	chr9:115875020-115875170	HRE	kidney:	n/a	n/a
50	CTCF	chr9:115874890-115875350	GM12878	blood:	n/a	chr9:115875291-115875309 chr9:115875292-115875308 chr9:115875294-115875307 chr9:115875294-115875307

(count:915 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:115851944-115851994	AG10803	skin:	n/a
2	chr9:115852992-115853042	HCF	heart:	n/a
3	chr9:115835616-115835666	U87	brain:	n/a
4	chr9:115837453-115837503	MCF10A-Er-Src	breast:	n/a
5	chr9:115825302-115825352	SK-N-SH	brain:	n/a
6	chr9:115822072-115822122	ovcar-3	ovarian:	n/a
7	chr9:115851944-115851994	SK-N-MC	brain:	n/a
8	chr9:115837453-115837503	Caco-2	colon:	n/a
9	chr9:115835616-115835666	AoSMC	blood vessel:	n/a
10	chr9:115825302-115825352	Hela-S3	cervix:	n/a
11	chr9:115851944-115851994	HRPEpiC	eye:	n/a
12	chr9:115841105-115841155	AG09319	gingival:	n/a
13	chr9:115833890-115833940	GM12891	blood:	n/a
14	chr9:115837453-115837503	NHDF-neo	bronchial:	n/a
15	chr9:115851255-115851305	HPAEpiC	pulmonary alveolar:	n/a
16	chr9:115835613-115835663	H1-hESC	embryonic stem cell:	embryo
17	chr9:115835613-115835663	HCM	heart:	n/a
18	chr9:115835616-115835666	HIPEpiC	eye:	n/a
19	chr9:115825302-115825352	HMEC	breast:	n/a
20	chr9:115824717-115824767	HL-60	blood:	n/a
21	chr9:115822072-115822122	HNPCEpiC	eye:	n/a
22	chr9:115851944-115851994	GM12878	blood:	n/a
23	chr9:115851947-115851997	AG04449	skin:	fetal
24	chr9:115835616-115835666	Hela-S3	cervix:	n/a
25	chr9:115874001-115874051	AG10803	skin:	n/a
26	chr9:115825302-115825352	SKMC	muscle:	n/a
27	chr9:115822072-115822122	GM12892	blood:	n/a
28	chr9:115875112-115875162	GM06990	blood:	n/a
29	chr9:115841081-115841131	LNCaP	prostate:	n/a
30	chr9:115835613-115835663	HEK293	kidney:	embryo
31	chr9:115841081-115841131	PANC-1	pancreas:	n/a
32	chr9:115824717-115824767	SAEC	small airway:	n/a
33	chr9:115837453-115837503	GM12878	blood:	n/a
34	chr9:115875112-115875162	HMEC	breast:	n/a
35	chr9:115841105-115841155	HAEpiC	amniotic membrane:	n/a
36	chr9:115835616-115835666	NH-A	brain:	n/a
37	chr9:115837453-115837503	H1-hESC	embryonic stem cell:	embryo
38	chr9:115852992-115853042	SK-N-MC	brain:	n/a
39	chr9:115841081-115841131	MCF-7	breast:	n/a
40	chr9:115822072-115822122	Hela-S3	cervix:	n/a
41	chr9:115851944-115851994	U87	brain:	n/a
42	chr9:115874001-115874051	HUVEC	blood vessel:	n/a
43	chr9:115841081-115841131	CMK	blood:	n/a
44	chr9:115824717-115824767	GM12878	blood:	n/a
45	chr9:115841081-115841131	AG09309	skin:	n/a
46	chr9:115851255-115851305	AG04450	lung:	fetal
47	chr9:115852992-115853042	MCF10A-Er-Src	breast:	n/a
48	chr9:115835613-115835663	GM12891	blood:	n/a
49	chr9:115824717-115824767	AoSMC	blood vessel:	n/a
50	chr9:115841105-115841155	BJ	skin:	n/a

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:115880293..115882518-chr9:115890659..115892988,2	K562	blood:
2	chr9:115856198..115858417-chr9:115859044..115860820,2	MCF-7	breast:
3	chr9:115886125..115889063-chr9:115896987..115899858,2	K562	blood:
4	chr9:115881515..115883241-chr9:115913395..115914943,2	MCF-7	breast:
5	chr9:115853301..115854826-chr9:115855514..115857498,2	K562	blood:
6	chr9:115853301..115854826-chr9:115855514..115857498,2	K562	blood:
7	chr9:115886679..115889181-chr9:115895702..115897217,2	MCF-7	breast:
8	chr9:115872624..115875532-chr9:115912017..115913734,2	MCF-7	breast:
9	chr9:115887611..115890231-chr9:115913519..115916345,2	MCF-7	breast:
10	chr9:115880293..115882518-chr9:115890659..115892988,2	K562	blood:
11	chr9:115687009..115687855-chr9:115874049..115874602,2	MCF-7	breast:
12	chr9:115888448..115891950-chr9:115898465..115901029,3	MCF-7	breast:
13	chr9:115887976..115889749-chr9:115910119..115911972,2	MCF-7	breast:
14	chr9:115882399..115884999-chr9:115891613..115894561,3	MCF-7	breast:
15	chr1:224803776..224804276-chr9:115875131..115875670,2	MCF-7	breast:
16	chr9:115890845..115895225-chr9:115895362..115900277,5	MCF-7	breast:
17	chr9:115890546..115893506-chr9:115895057..115896950,2	K562	blood:
18	chr9:115884874..115886487-chr9:115927190..115929312,2	K562	blood:
19	chr9:115857627..115859228-chr9:115862947..115865941,2	MCF-7	breast:
20	chr9:115890878..115893257-chr9:115912029..115915211,3	MCF-7	breast:
21	chr9:115884518..115887843-chr9:115899953..115901831,3	MCF-7	breast:
22	chr9:115888226..115890685-chr9:115891498..115893833,2	MCF-7	breast:
23	chr9:115856198..115858417-chr9:115859044..115860820,2	MCF-7	breast:
24	chr9:115857627..115859228-chr9:115862947..115865941,2	MCF-7	breast:
25	chr9:115875142..115875676-chr9:115912672..115913501,2	MCF-7	breast:
26	chr9:115882894..115884462-chr9:115915677..115917990,2	MCF-7	breast:

(count:14 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZFP37-2	chr9:115873690-115873957	NONHSAT134034
2	lnc-ZFP37-2	chr9:115867003-115872433	ENSG00000225684
3	lnc-ZFP37-2	chr9:115865618-115872433	ENSG00000225684
4	lnc-ZFP37-2	chr9:115873190-115873296	ENSG00000225684
5	lnc-ZFP37-2	chr9:115867003-115872433	NONHSAT134034
6	lnc-ZFP37-2	chr9:115873690-115873780	ENSG00000225684
7	lnc-SLC31A2-1	chr9:115876700-115882126	NONHSAT134170
8	lnc-ZFP37-2	chr9:115873190-115873753	ENSG00000225684
9	lnc-ZFP37-2	chr9:115873190-115873296	NONHSAT134034
10	lnc-SLC31A2-1	chr9:115875837-115875943	NONHSAT134170
11	lnc-SLC31A2-1	chr9:115875353-115875443	ENSG00000231528
12	lnc-SLC31A2-1	chr9:115875837-115875943	ENSG00000231528
13	lnc-SLC31A2-1	chr9:115875176-115875443	NONHSAT134170
14	lnc-SLC31A2-1	chr9:115876700-115882126	ENSG00000231528

No data

Variant related genes	Relation type
FAM225B	TF binding region
ZFP37	TF binding region
FAM225A	TF binding region
FAM225B	CpG island
ZFP37	CpG island
FAM225A	CpG island
ENSG00000136867	chromatin interactions
ENSG00000233384	chromatin interactions
ENSG00000143786	chromatin interactions

Extended variants
information (count: 1344 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1344 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9785186	chr9:115821854-115821855	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs187652807	chr9:115821855-115821856	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs562366311	chr9:115821861-115821862	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs574611344	chr9:115821863-115821864	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs540160801	chr9:115821864-115821865	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs541902287	chr9:115821870-115821871	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs139759980	chr9:115821871-115821872	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs561006791	chr9:115821877-115821878	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs533439641	chr9:115821894-115821895	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs552104003	chr9:115821897-115821898	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs184896005	chr9:115821899-115821900	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs143468947	chr9:115821916-115821917	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs548123882	chr9:115821920-115821921	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs568002854	chr9:115821933-115821934	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs533584909	chr9:115821938-115821939	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs377732556	chr9:115821951-115821952	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs118021915	chr9:115821966-115821967	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs570475572	chr9:115821978-115821979	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs539484267	chr9:115821990-115821991	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs140439256	chr9:115822007-115822008	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs571904492	chr9:115822012-115822013	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs576758170	chr9:115822013-115822014	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs536048159	chr9:115822018-115822019	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs151096204	chr9:115822026-115822027	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs572754560	chr9:115822038-115822039	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs545817144	chr9:115822045-115822046	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs564473684	chr9:115822054-115822055	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs77547816	chr9:115822060-115822061	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs543852908	chr9:115822064-115822065	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs112491414	chr9:115822068-115822069	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs531440572	chr9:115822071-115822072	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs564414237	chr9:115822073-115822074	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
33	rs112754868	chr9:115822075-115822076	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
34	rs4327926	chr9:115822085-115822086	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs547092309	chr9:115822091-115822092	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
36	rs549769073	chr9:115822103-115822104	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
37	rs539061350	chr9:115822104-115822105	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
38	rs374946916	chr9:115822126-115822127	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs28728218	chr9:115822146-115822147	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs28526807	chr9:115822150-115822151	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs569752423	chr9:115822151-115822152	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs1831438	chr9:115822157-115822158	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs373952647	chr9:115822158-115822159	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs555971603	chr9:115822160-115822161	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs572668043	chr9:115822165-115822166	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs368467625	chr9:115822175-115822176	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs557872732	chr9:115822188-115822189	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs578004801	chr9:115822191-115822192	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs371899878	chr9:115822217-115822218	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs375083894	chr9:115822223-115822224	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	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
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
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Lung cancer	19147751	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Bladder cancer	21909424	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:226 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:115793000-115822200	ZNF genes & repeats	Liver	Liver
2	chr9:115817600-115822400	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
3	chr9:115817800-115822400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
4	chr9:115818200-115822600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
5	chr9:115819800-115822600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr9:115820400-115822000	ZNF genes & repeats	Aorta	Aorta
7	chr9:115821000-115822000	ZNF genes & repeats	Pancreas	Pancrea
8	chr9:115821000-115822000	ZNF genes & repeats	Right Ventricle	heart
9	chr9:115821000-115822200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
10	chr9:115821000-115822200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
11	chr9:115821000-115822200	ZNF genes & repeats	Right Atrium	heart
12	chr9:115821000-115822400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr9:115821200-115822200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
14	chr9:115821200-115822200	Bivalent/Poised TSS	Psoas Muscle	Psoas
15	chr9:115821200-115822400	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
16	chr9:115821200-115822600	ZNF genes & repeats	Ovary	ovary
17	chr9:115821400-115822200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
18	chr9:115821400-115822200	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
19	chr9:115821400-115822200	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr9:115821400-115822600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr9:115821600-115822000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr9:115821600-115822000	Bivalent/Poised TSS	Fetal Brain Female	brain
23	chr9:115821600-115822200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
24	chr9:115821800-115822000	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr9:115821800-115822000	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
26	chr9:115821800-115822000	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr9:115821800-115822000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr9:115821800-115822000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
29	chr9:115821800-115822000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr9:115821800-115822000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr9:115821800-115822000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
32	chr9:115821800-115822200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
33	chr9:115821800-115822200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
34	chr9:115821800-115822200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
35	chr9:115821800-115822200	Bivalent/Poised TSS	Cortex derived primary cultured neurospheres	brain
36	chr9:115821800-115822200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr9:115821800-115822200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr9:115821800-115822200	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr9:115821800-115822200	Bivalent/Poised TSS	Adipose Nuclei	Adipose
40	chr9:115821800-115822200	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
41	chr9:115821800-115822200	Bivalent/Poised TSS	Fetal Kidney	kidney
42	chr9:115821800-115822200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
43	chr9:115821800-115822200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
44	chr9:115821800-115822200	Bivalent/Poised TSS	Thymus	Thymus
45	chr9:115821800-115822400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
46	chr9:115821800-115822400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
47	chr9:115821800-115822400	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr9:115821800-115822400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
49	chr9:115821800-115822400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
50	chr9:115821800-115822600	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links