Variant report

Variant	nsv466530
Chromosome Location	chr9:116916931-116935660
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	chr9:116917556-116917812	HepG2	liver:	n/a	n/a
2	BACH1	chr9:116919190-116919252	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr9:116918832-116918950	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr9:116916262-116917825	H1-hESC	embryonic stem cell:	n/a	n/a
5	BHLHE40	chr9:116917652-116917813	GM12878	blood:	n/a	n/a
6	BHLHE40	chr9:116925776-116926107	HepG2	liver:	n/a	n/a
7	BHLHE40	chr9:116917582-116917706	K562	blood:	n/a	n/a
8	BRCA1	chr9:116917608-116917881	Hela-S3	cervix:	n/a	n/a
9	CCNT2	chr9:116917603-116917846	K562	blood:	n/a	n/a
10	CEBPB	chr9:116918614-116918817	HepG2	liver:	n/a	n/a
11	CEBPB	chr9:116935491-116935794	IMR90	lung:	n/a	n/a
12	CEBPB	chr9:116918582-116919517	IMR90	lung:	n/a	n/a
13	CEBPB	chr9:116920204-116920447	IMR90	lung:	n/a	n/a
14	CEBPB	chr9:116917574-116917748	H1-hESC	embryonic stem cell:	n/a	n/a
15	CEBPB	chr9:116917541-116917736	HepG2	liver:	n/a	n/a
16	CHD1	chr9:116917409-116920757	IMR90	lung:	n/a	n/a
17	CHD1	chr9:116917619-116917971	H1-hESC	embryonic stem cell:	n/a	n/a
18	CHD2	chr9:116917641-116917827	H1-hESC	embryonic stem cell:	n/a	n/a
19	CHD2	chr9:116916895-116917095	HepG2	liver:	n/a	n/a
20	CHD2	chr9:116917633-116917951	Hela-S3	cervix:	n/a	n/a
21	CHD2	chr9:116925741-116926067	H1-hESC	embryonic stem cell:	n/a	n/a
22	CHD2	chr9:116925792-116926044	HepG2	liver:	n/a	n/a
23	CHD2	chr9:116917730-116917764	GM12878	blood:	n/a	n/a
24	CREB1	chr9:116917536-116918110	A549	lung:	n/a	n/a
25	CTBP2	chr9:116918708-116919951	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTBP2	chr9:116915982-116917075	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTBP2	chr9:116917548-116918440	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr9:116917640-116917790	HPAF	blood vessel:	n/a	chr9:116917702-116917720 chr9:116917722-116917740 chr9:116917715-116917728 chr9:116917725-116917738 chr9:116917712-116917730 chr9:116917705-116917718
29	CTCF	chr9:116917600-116917750	SAEC	small airway:	n/a	chr9:116917702-116917720 chr9:116917722-116917740 chr9:116917715-116917728 chr9:116917725-116917738 chr9:116917712-116917730 chr9:116917705-116917718
30	CTCF	chr9:116917680-116917830	HAc	cerebellar:	n/a	chr9:116917702-116917720 chr9:116917722-116917740 chr9:116917715-116917728 chr9:116917725-116917738 chr9:116917712-116917730 chr9:116917705-116917718
31	CTCF	chr9:116917640-116917790	GM12865	blood:	n/a	chr9:116917702-116917720 chr9:116917722-116917740 chr9:116917715-116917728 chr9:116917725-116917738 chr9:116917712-116917730 chr9:116917705-116917718
32	CTCF	chr9:116917640-116917790	AG09319	gingival:	n/a	chr9:116917702-116917720 chr9:116917722-116917740 chr9:116917715-116917728 chr9:116917725-116917738 chr9:116917712-116917730 chr9:116917705-116917718
33	CTCF	chr9:116917200-116917350	GM12872	blood:	n/a	n/a
34	CTCF	chr9:116917660-116917810	BE2_C	brain:	n/a	chr9:116917702-116917720 chr9:116917722-116917740 chr9:116917715-116917728 chr9:116917725-116917738 chr9:116917712-116917730 chr9:116917705-116917718
35	CTCF	chr9:116917640-116917790	NHDF-neo	bronchial:	n/a	chr9:116917702-116917720 chr9:116917722-116917740 chr9:116917715-116917728 chr9:116917725-116917738 chr9:116917712-116917730 chr9:116917705-116917718
36	CTCF	chr9:116917200-116917350	BJ	skin:	n/a	n/a
37	CTCF	chr9:116917660-116917810	GM12865	blood:	n/a	chr9:116917702-116917720 chr9:116917722-116917740 chr9:116917715-116917728 chr9:116917725-116917738 chr9:116917712-116917730 chr9:116917705-116917718
38	CTCF	chr9:116917520-116917908	K562	blood:	n/a	chr9:116917702-116917720 chr9:116917722-116917740 chr9:116917715-116917728 chr9:116917725-116917738 chr9:116917712-116917730 chr9:116917705-116917718
39	CTCF	chr9:116918320-116918470	BJ	skin:	n/a	chr9:116918452-116918465 chr9:116918402-116918415
40	CTCF	chr9:116919020-116919170	NHEK	skin:	n/a	n/a
41	CTCF	chr9:116919102-116919230	Kidney_OC	kidney:	n/a	n/a
42	CTCF	chr9:116917579-116917829	ProgFib	skin:	n/a	chr9:116917702-116917720 chr9:116917722-116917740 chr9:116917715-116917728 chr9:116917725-116917738 chr9:116917712-116917730 chr9:116917705-116917718
43	CTCF	chr9:116917640-116917790	SAEC	small airway:	n/a	chr9:116917702-116917720 chr9:116917722-116917740 chr9:116917715-116917728 chr9:116917725-116917738 chr9:116917712-116917730 chr9:116917705-116917718
44	CTCF	chr9:116919100-116919250	AG09319	gingival:	n/a	n/a
45	CTCF	chr9:116917571-116917853	GM13977	blood:	n/a	chr9:116917702-116917720 chr9:116917722-116917740 chr9:116917715-116917728 chr9:116917725-116917738 chr9:116917712-116917730 chr9:116917705-116917718
46	CTCF	chr9:116917680-116917830	HCM	heart:	n/a	chr9:116917702-116917720 chr9:116917722-116917740 chr9:116917715-116917728 chr9:116917725-116917738 chr9:116917712-116917730 chr9:116917705-116917718
47	CTCF	chr9:116917567-116917863	MCF-7	breast:	n/a	chr9:116917702-116917720 chr9:116917722-116917740 chr9:116917715-116917728 chr9:116917725-116917738 chr9:116917712-116917730 chr9:116917705-116917718
48	CTCF	chr9:116919072-116919262	Gliobla	brain:	n/a	n/a
49	CTCF	chr9:116917349-116917512	GM19240	blood:	n/a	n/a
50	CTCF	chr9:116919060-116919210	HCM	heart:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:116918247-116918297	PFSK-1	brain:	n/a
2	chr9:116918477-116918527	T-47D	breast:	n/a
3	chr9:116930367-116930417	Hela-S3	cervix:	n/a
4	chr9:116918183-116918233	MCF-7	breast:	n/a
5	chr9:116918247-116918297	NH-A	brain:	n/a
6	chr9:116930367-116930417	Caco-2	colon:	n/a
7	chr9:116932436-116932486	SK-N-SH	brain:	n/a
8	chr9:116918477-116918527	PFSK-1	brain:	n/a
9	chr9:116918247-116918297	BJ	skin:	n/a
10	chr9:116930367-116930417	HRPEpiC	eye:	n/a
11	chr9:116917393-116917443	HIPEpiC	eye:	n/a
12	chr9:116917393-116917443	NT2-D1	testis:	n/a
13	chr9:116932436-116932486	NHBE	bronchial:	n/a
14	chr9:116929797-116929847	LNCaP	prostate:	n/a
15	chr9:116929797-116929847	HEEpiC	esophagus:	n/a
16	chr9:116918477-116918527	HCF	heart:	n/a
17	chr9:116918183-116918233	PrEC	prostate:	n/a
18	chr9:116917393-116917443	HRCEpiC	kidney:	n/a
19	chr9:116918247-116918297	HPAEpiC	pulmonary alveolar:	n/a
20	chr9:116930367-116930417	AG10803	skin:	n/a
21	chr9:116918477-116918527	SAEC	small airway:	n/a
22	chr9:116930367-116930417	SK-N-SH_RA	brain:	n/a
23	chr9:116929797-116929847	RPTEC	kidney:	n/a
24	chr9:116929797-116929847	MCF10A-Er-Src	breast:	n/a
25	chr9:116918477-116918527	AG09309	skin:	n/a
26	chr9:116918477-116918527	SKMC	muscle:	n/a
27	chr9:116918183-116918233	Jurkat	blood:	n/a
28	chr9:116932028-116932078	NHDF-neo	bronchial:	n/a
29	chr9:116918247-116918297	K562	blood:	n/a
30	chr9:116932028-116932078	PFSK-1	brain:	n/a
31	chr9:116932028-116932078	AG04449	skin:	fetal
32	chr9:116932436-116932486	HCM	heart:	n/a
33	chr9:116932028-116932078	LNCaP	prostate:	n/a
34	chr9:116930367-116930417	SKMC	muscle:	n/a
35	chr9:116918183-116918233	AG09319	gingival:	n/a
36	chr9:116932028-116932078	Jurkat	blood:	n/a
37	chr9:116918477-116918527	AG10803	skin:	n/a
38	chr9:116918477-116918527	HIPEpiC	eye:	n/a
39	chr9:116918247-116918297	AoSMC	blood vessel:	n/a
40	chr9:116930367-116930417	HCT-116	colon:	n/a
41	chr9:116918183-116918233	PFSK-1	brain:	n/a
42	chr9:116918247-116918297	BE2_C	brain:	n/a
43	chr9:116932436-116932486	HNPCEpiC	eye:	n/a
44	chr9:116918247-116918297	U87	brain:	n/a
45	chr9:116917393-116917443	GM06990	blood:	n/a
46	chr9:116929797-116929847	NHDF-neo	bronchial:	n/a
47	chr9:116929797-116929847	HMEC	breast:	n/a
48	chr9:116929797-116929847	NHBE	bronchial:	n/a
49	chr9:116918183-116918233	BE2_C	brain:	n/a
50	chr9:116917393-116917443	U87	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:116918924..116921858-chr9:116922744..116925296,3	K562	blood:
2	chr9:116932183..116936074-chr9:116938591..116942808,3	K562	blood:
3	chr9:116846273..116847216-chr9:116922173..116922681,2	MCF-7	breast:
4	chr9:116917422..116918284-chr9:117067805..117069207,4	K562	blood:
5	chr9:116870237..116871907-chr9:116924776..116927376,2	MCF-7	breast:
6	chr9:116918924..116921858-chr9:116922744..116925296,3	K562	blood:
7	chr9:116914824..116917398-chr9:116971543..116973662,2	MCF-7	breast:
8	chr9:116930014..116932339-chr9:116933734..116935674,2	MCF-7	breast:
9	chr9:116878648..116881578-chr9:116935106..116937121,2	MCF-7	breast:
10	chr9:116922253..116925161-chr9:116948030..116950142,2	MCF-7	breast:
11	chr9:116918121..116920168-chr9:116937255..116940070,3	K562	blood:
12	chr9:116915372..116918710-chr9:116920861..116924845,3	MCF-7	breast:
13	chr9:116927426..116928989-chr9:116941833..116943417,2	K562	blood:
14	chr9:116930264..116933030-chr9:116933706..116935267,2	MCF-7	breast:
15	chr9:116933656..116936282-chr9:116947384..116950321,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KIF12-3	chr9:116929847-116930010	NONHSAT134369
2	lnc-KIF12-3	chr9:116924897-116924972	NONHSAT134369
3	lnc-KIF12-3	chr9:116929050-116929727	NONHSAT134369
4	lnc-KIF12-3	chr9:116921639-116921808	NONHSAT134369
5	lnc-ZNF618-2	chr9:116933576-116935890	NONHSAT134370
6	lnc-KIF12-3	chr9:116928407-116928523	NONHSAT134369

Variant related genes	Relation type
COL27A1	TF binding region
COL27A1	CpG island
ENSG00000196739	chromatin interactions
ENSG00000207726	chromatin interactions

Extended variants
information (count: 837 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:837 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1469598	chr9:116916931-116916932	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs143601047	chr9:116917007-116917008	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs569312252	chr9:116917086-116917087	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs146299631	chr9:116917100-116917101	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs139650651	chr9:116917227-116917228	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs568148711	chr9:116917246-116917247	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs12555894	chr9:116917263-116917264	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs142860000	chr9:116917279-116917280	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs117235458	chr9:116917325-116917326	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs34091560	chr9:116917351-116917352	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs200882839	chr9:116917369-116917370	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs567591807	chr9:116917370-116917371	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs185765522	chr9:116917584-116917585	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs540363025	chr9:116917593-116917594	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs544365440	chr9:116917594-116917595	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs559874698	chr9:116917625-116917626	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs574515610	chr9:116917661-116917662	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs540246330	chr9:116917668-116917669	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs34789323	chr9:116917685-116917686	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs190524314	chr9:116917703-116917704	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs200411918	chr9:116917711-116917712	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs532851090	chr9:116917776-116917777	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs546134276	chr9:116917810-116917811	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs562781741	chr9:116917813-116917814	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs531773909	chr9:116917907-116917908	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs548303345	chr9:116917946-116917947	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs373940204	chr9:116917960-116917961	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs527743089	chr9:116918005-116918006	Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs368463689	chr9:116918202-116918203	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs570706812	chr9:116918214-116918215	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs538968859	chr9:116918237-116918238	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs564396640	chr9:116918250-116918251	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs199586912	chr9:116918317-116918318	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200574201	chr9:116918340-116918341	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538020396	chr9:116918341-116918342	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554778529	chr9:116918346-116918347	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376601706	chr9:116918369-116918370	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs7860877	chr9:116918394-116918395	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs1991707	chr9:116918675-116918676	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs369588284	chr9:116918688-116918689	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs528908039	chr9:116918703-116918704	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs62555366	chr9:116918770-116918771	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs386737828	chr9:116918829-116918830	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs2808792	chr9:116918835-116918836	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs546510124	chr9:116918851-116918852	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs13291731	chr9:116918872-116918873	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs150992679	chr9:116918874-116918875	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs576300481	chr9:116918876-116918877	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs542031134	chr9:116918937-116918938	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs561903613	chr9:116918940-116918941	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Bladder cancer	21909424	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	21509527	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Cervical cancer	16585170	CNVD
Ependymoma	19289631	CNVD
Melanoma	17363583	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:1162 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116915800-116917400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
2	chr9:116915800-116917600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
3	chr9:116916000-116917000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr9:116916000-116917000	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
5	chr9:116916000-116917200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr9:116916000-116917200	Enhancers	Lung	lung
7	chr9:116916000-116917400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr9:116916000-116917400	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
9	chr9:116916000-116917400	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
10	chr9:116916000-116917600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
11	chr9:116916000-116917600	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
12	chr9:116916000-116917800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr9:116916000-116917800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
14	chr9:116916200-116917000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr9:116916200-116917000	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr9:116916200-116917000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr9:116916200-116917000	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
18	chr9:116916200-116917000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
19	chr9:116916200-116917000	Flanking Active TSS	Psoas Muscle	Psoas
20	chr9:116916200-116917000	Active TSS	A549	lung
21	chr9:116916200-116917000	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
22	chr9:116916200-116917200	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr9:116916200-116917200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
24	chr9:116916200-116917200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr9:116916200-116917200	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
26	chr9:116916200-116917200	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
27	chr9:116916200-116917200	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
28	chr9:116916200-116917200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
29	chr9:116916200-116917200	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
30	chr9:116916200-116917200	Flanking Bivalent TSS/Enh	HMEC	breast
31	chr9:116916200-116917400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
32	chr9:116916200-116917400	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
33	chr9:116916200-116917400	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
34	chr9:116916200-116917400	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
35	chr9:116916200-116917400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr9:116916200-116917800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
37	chr9:116916400-116917000	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
38	chr9:116916400-116917000	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
39	chr9:116916400-116917000	Flanking Active TSS	Right Ventricle	heart
40	chr9:116916400-116917200	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr9:116916400-116917200	Flanking Bivalent TSS/Enh	Esophagus	oesophagus
42	chr9:116916400-116917200	Flanking Bivalent TSS/Enh	NHLF	lung
43	chr9:116916400-116917400	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr9:116916400-116917400	Bivalent Enhancer	Primary B cells from cord blood	blood
45	chr9:116916400-116917400	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
46	chr9:116916400-116917400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
47	chr9:116916400-116917400	Flanking Bivalent TSS/Enh	Colon Smooth Muscle	Colon
48	chr9:116916400-116917400	Flanking Active TSS	Pancreas	Pancrea
49	chr9:116916400-116917600	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
50	chr9:116916600-116917000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell

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