Variant report

Variant	esv3360971
Chromosome Location	chr9:116917156-116919904
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	chr9:116916262-116917825	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	chr9:116919190-116919252	H1-hESC	embryonic stem cell:	n/a	n/a
5	BHLHE40	chr9:116917582-116917706	K562	blood:	n/a	n/a
6	BHLHE40	chr9:116917652-116917813	GM12878	blood:	n/a	n/a
7	BRCA1	chr9:116917608-116917881	Hela-S3	cervix:	n/a	n/a
8	CCNT2	chr9:116917603-116917846	K562	blood:	n/a	n/a
9	CEBPB	chr9:116917541-116917736	HepG2	liver:	n/a	n/a
10	CEBPB	chr9:116918582-116919517	IMR90	lung:	n/a	n/a
11	CEBPB	chr9:116918614-116918817	HepG2	liver:	n/a	n/a
12	CEBPB	chr9:116917574-116917748	H1-hESC	embryonic stem cell:	n/a	n/a
13	CHD1	chr9:116917409-116920757	IMR90	lung:	n/a	n/a
14	CHD1	chr9:116917619-116917971	H1-hESC	embryonic stem cell:	n/a	n/a
15	CHD2	chr9:116917730-116917764	GM12878	blood:	n/a	n/a
16	CHD2	chr9:116917641-116917827	H1-hESC	embryonic stem cell:	n/a	n/a
17	CHD2	chr9:116917633-116917951	Hela-S3	cervix:	n/a	n/a
18	CREB1	chr9:116917536-116918110	A549	lung:	n/a	n/a
19	CTBP2	chr9:116918708-116919951	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTBP2	chr9:116917548-116918440	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr9:116917571-116917843	GM12878	blood:	n/a	chr9:116917702-116917720 chr9:116917722-116917740 chr9:116917715-116917728 chr9:116917725-116917738 chr9:116917712-116917730 chr9:116917705-116917718
22	CTCF	chr9:116917574-116917863	Kidney_OC	kidney:	n/a	chr9:116917702-116917720 chr9:116917722-116917740 chr9:116917715-116917728 chr9:116917725-116917738 chr9:116917712-116917730 chr9:116917705-116917718
23	CTCF	chr9:116917660-116917810	MCF-7	breast:	n/a	chr9:116917702-116917720 chr9:116917722-116917740 chr9:116917715-116917728 chr9:116917725-116917738 chr9:116917712-116917730 chr9:116917705-116917718
24	CTCF	chr9:116919057-116919268	Fibrobl	skin:	n/a	n/a
25	CTCF	chr9:116917349-116917512	GM19240	blood:	n/a	n/a
26	CTCF	chr9:116917040-116917190	GM12870	blood:	n/a	n/a
27	CTCF	chr9:116919040-116919190	HPAF	blood vessel:	n/a	n/a
28	CTCF	chr9:116917660-116917810	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	chr9:116917200-116917350	BJ	skin:	n/a	n/a
30	CTCF	chr9:116918760-116918910	HUVEC	blood vessel:	n/a	n/a
31	CTCF	chr9:116917580-116917730	GM12872	blood:	n/a	chr9:116917702-116917720 chr9:116917715-116917728 chr9:116917712-116917730 chr9:116917705-116917718
32	CTCF	chr9:116917577-116917826	A549	lung:	n/a	chr9:116917702-116917720 chr9:116917722-116917740 chr9:116917715-116917728 chr9:116917725-116917738 chr9:116917712-116917730 chr9:116917705-116917718
33	CTCF	chr9:116918820-116918970	AG09309	skin:	n/a	n/a
34	CTCF	chr9:116918800-116918950	WERI-Rb-1	eye:	n/a	n/a
35	CTCF	chr9:116917200-116917350	SAEC	small airway:	n/a	n/a
36	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
37	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
38	CTCF	chr9:116918973-116919342	IMR90	lung:	n/a	n/a
39	CTCF	chr9:116918823-116918928	Lung_OC	lung:	n/a	n/a
40	CTCF	chr9:116917565-116917848	Hela-S3	cervix:	n/a	chr9:116917702-116917720 chr9:116917722-116917740 chr9:116917715-116917728 chr9:116917725-116917738 chr9:116917712-116917730 chr9:116917705-116917718
41	CTCF	chr9:116917499-116917904	H1-hESC	embryonic stem cell:	n/a	chr9:116917702-116917720 chr9:116917722-116917740 chr9:116917715-116917728 chr9:116917725-116917738 chr9:116917712-116917730 chr9:116917705-116917718
42	CTCF	chr9:116917620-116917770	HA-sp	spinal cord:	n/a	chr9:116917702-116917720 chr9:116917722-116917740 chr9:116917715-116917728 chr9:116917725-116917738 chr9:116917712-116917730 chr9:116917705-116917718
43	CTCF	chr9:116918300-116918450	GM12869	blood:	n/a	chr9:116918402-116918415
44	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
45	CTCF	chr9:116917640-116917790	HMEC	breast:	n/a	chr9:116917702-116917720 chr9:116917722-116917740 chr9:116917715-116917728 chr9:116917725-116917738 chr9:116917712-116917730 chr9:116917705-116917718
46	CTCF	chr9:116917640-116917790	AG09309	skin:	n/a	chr9:116917702-116917720 chr9:116917722-116917740 chr9:116917715-116917728 chr9:116917725-116917738 chr9:116917712-116917730 chr9:116917705-116917718
47	CTCF	chr9:116917620-116917770	Hela-S3	cervix:	n/a	chr9:116917702-116917720 chr9:116917722-116917740 chr9:116917715-116917728 chr9:116917725-116917738 chr9:116917712-116917730 chr9:116917705-116917718
48	CTCF	chr9:116917550-116917975	K562	blood:	n/a	chr9:116917702-116917720 chr9:116917722-116917740 chr9:116917715-116917728 chr9:116917725-116917738 chr9:116917712-116917730 chr9:116917705-116917718
49	CTCF	chr9:116919140-116919290	HCFaa	heart:	n/a	n/a
50	CTCF	chr9:116917700-116917850	HFF-Myc	foreskin:	n/a	chr9:116917702-116917720 chr9:116917722-116917740 chr9:116917715-116917728 chr9:116917725-116917738 chr9:116917712-116917730 chr9:116917705-116917718

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:116918247-116918297	H1-hESC	embryonic stem cell:	embryo
2	chr9:116917393-116917443	BJ	skin:	n/a
3	chr9:116918477-116918527	BJ	skin:	n/a
4	chr9:116917393-116917443	HUVEC	blood vessel:	n/a
5	chr9:116917393-116917443	SK-N-SH	brain:	n/a
6	chr9:116918247-116918297	GM12891	blood:	n/a
7	chr9:116917393-116917443	HepG2	liver:	n/a
8	chr9:116918247-116918297	ovcar-3	ovarian:	n/a
9	chr9:116918183-116918233	MCF-7	breast:	n/a
10	chr9:116917393-116917443	AG09309	skin:	n/a
11	chr9:116918183-116918233	ProgFib	skin:	n/a
12	chr9:116918477-116918527	SKMC	muscle:	n/a
13	chr9:116918247-116918297	MCF-7	breast:	n/a
14	chr9:116917393-116917443	ProgFib	skin:	n/a
15	chr9:116918247-116918297	NHDF-neo	bronchial:	n/a
16	chr9:116917393-116917443	AG04450	lung:	fetal
17	chr9:116918477-116918527	K562	blood:	n/a
18	chr9:116918183-116918233	BE2_C	brain:	n/a
19	chr9:116918477-116918527	HRCEpiC	kidney:	n/a
20	chr9:116917393-116917443	HRE	kidney:	n/a
21	chr9:116918477-116918527	U87	brain:	n/a
22	chr9:116918477-116918527	A549	lung:	n/a
23	chr9:116918477-116918527	AG09309	skin:	n/a
24	chr9:116917393-116917443	HAEpiC	amniotic membrane:	n/a
25	chr9:116918247-116918297	T-47D	breast:	n/a
26	chr9:116918477-116918527	ProgFib	skin:	n/a
27	chr9:116918477-116918527	LNCaP	prostate:	n/a
28	chr9:116918247-116918297	GM06990	blood:	n/a
29	chr9:116918247-116918297	AG09309	skin:	n/a
30	chr9:116918247-116918297	HAEpiC	amniotic membrane:	n/a
31	chr9:116918247-116918297	Hela-S3	cervix:	n/a
32	chr9:116918477-116918527	GM12891	blood:	n/a
33	chr9:116918477-116918527	HCM	heart:	n/a
34	chr9:116917393-116917443	HRPEpiC	eye:	n/a
35	chr9:116918183-116918233	HRCEpiC	kidney:	n/a
36	chr9:116918183-116918233	NH-A	brain:	n/a
37	chr9:116918477-116918527	HL-60	blood:	n/a
38	chr9:116918477-116918527	NHDF-neo	bronchial:	n/a
39	chr9:116917393-116917443	HCF	heart:	n/a
40	chr9:116917393-116917443	PrEC	prostate:	n/a
41	chr9:116918183-116918233	SKMC	muscle:	n/a
42	chr9:116918183-116918233	Hepatocyte	liver:	n/a
43	chr9:116918247-116918297	HRCEpiC	kidney:	n/a
44	chr9:116918183-116918233	SK-N-SH_RA	brain:	n/a
45	chr9:116917393-116917443	BE2_C	brain:	n/a
46	chr9:116918183-116918233	K562	blood:	n/a
47	chr9:116918477-116918527	ovcar-3	ovarian:	n/a
48	chr9:116918247-116918297	PFSK-1	brain:	n/a
49	chr9:116918477-116918527	SK-N-SH_RA	brain:	n/a
50	chr9:116918247-116918297	HRPEpiC	eye:	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:116917422..116918284-chr9:117067805..117069207,4	K562	blood:
2	chr9:116914824..116917398-chr9:116971543..116973662,2	MCF-7	breast:
3	chr9:116918121..116920168-chr9:116937255..116940070,3	K562	blood:
4	chr9:116918924..116921858-chr9:116922744..116925296,3	K562	blood:

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

Extended variants
information (count: 79 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:79 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	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
30	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
31	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
32	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
33	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
34	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
35	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
36	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
37	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
38	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
39	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
40	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
41	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
42	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
43	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
44	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
45	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
46	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
47	rs527788103	chr9:116918942-116918943	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs140838314	chr9:116919062-116919063	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
49	rs182484270	chr9:116919107-116919108	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
50	rs149711442	chr9:116919197-116919198	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	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:540 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

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	chr9:116916000-116917200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr9:116916000-116917200	Enhancers	Lung	lung
5	chr9:116916000-116917400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr9:116916000-116917400	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
7	chr9:116916000-116917400	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
8	chr9:116916000-116917600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
9	chr9:116916000-116917600	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
10	chr9:116916000-116917800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr9:116916000-116917800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
12	chr9:116916200-116917200	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr9:116916200-116917200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
14	chr9:116916200-116917200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr9:116916200-116917200	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
16	chr9:116916200-116917200	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
17	chr9:116916200-116917200	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
18	chr9:116916200-116917200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
19	chr9:116916200-116917200	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
20	chr9:116916200-116917200	Flanking Bivalent TSS/Enh	HMEC	breast
21	chr9:116916200-116917400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
22	chr9:116916200-116917400	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
23	chr9:116916200-116917400	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
24	chr9:116916200-116917400	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
25	chr9:116916200-116917400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr9:116916200-116917800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
27	chr9:116916400-116917200	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr9:116916400-116917200	Flanking Bivalent TSS/Enh	Esophagus	oesophagus
29	chr9:116916400-116917200	Flanking Bivalent TSS/Enh	NHLF	lung
30	chr9:116916400-116917400	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr9:116916400-116917400	Bivalent Enhancer	Primary B cells from cord blood	blood
32	chr9:116916400-116917400	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
33	chr9:116916400-116917400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
34	chr9:116916400-116917400	Flanking Bivalent TSS/Enh	Colon Smooth Muscle	Colon
35	chr9:116916400-116917400	Flanking Active TSS	Pancreas	Pancrea
36	chr9:116916400-116917600	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
37	chr9:116916600-116917200	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr9:116916600-116917200	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr9:116916600-116917200	Flanking Bivalent TSS/Enh	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr9:116916600-116917200	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
41	chr9:116916600-116917200	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr9:116916600-116917200	Flanking Bivalent TSS/Enh	Brain Dorsolateral Prefrontal Cortex	brain
43	chr9:116916600-116917200	Flanking Bivalent TSS/Enh	Fetal Lung	lung
44	chr9:116916600-116917200	Flanking Active TSS	Right Atrium	heart
45	chr9:116916600-116917200	Flanking Bivalent TSS/Enh	NHDF-Ad	bronchial
46	chr9:116916600-116917400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
47	chr9:116916600-116917400	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr9:116916600-116917400	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr9:116916600-116917400	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
50	chr9:116916600-116917400	Flanking Active TSS	Gastric	stomach

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