Variant report

Variant	esv3403378
Chromosome Location	chr9:98267156-98269704
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:722)
CpG islands
(count:367)
Chromatin interactive
region (count:15)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:722 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:98266249-98267286	HepG2	liver:	n/a	n/a
2	ARID3A	chr9:98267917-98267991	HepG2	liver:	n/a	n/a
3	ATF2	chr9:98268676-98269011	GM12878	blood:	n/a	n/a
4	ATF2	chr9:98269704-98270383	GM12878	blood:	n/a	n/a
5	BACH1	chr9:98268628-98269756	H1-hESC	embryonic stem cell:	n/a	n/a
6	BCL3	chr9:98269453-98270583	A549	lung:	n/a	chr9:98270407-98270416 chr9:98269743-98269756
7	BCL3	chr9:98269476-98270548	A549	lung:	n/a	chr9:98270407-98270416 chr9:98269743-98269756
8	BCLAF1	chr9:98269511-98270500	GM12878	blood:	n/a	chr9:98270407-98270416 chr9:98269743-98269756
9	BCLAF1	chr9:98268128-98269074	GM12878	blood:	n/a	chr9:98268222-98268235 chr9:98268591-98268604 chr9:98269023-98269036 chr9:98268587-98268600
10	BHLHE40	chr9:98267902-98268731	K562	blood:	n/a	n/a
11	BHLHE40	chr9:98269628-98269751	K562	blood:	n/a	n/a
12	BHLHE40	chr9:98267936-98270646	GM12878	blood:	n/a	chr9:98269109-98269125
13	BHLHE40	chr9:98269118-98269373	K562	blood:	n/a	n/a
14	BHLHE40	chr9:98268000-98268594	HepG2	liver:	n/a	n/a
15	BRCA1	chr9:98268250-98268303	H1-hESC	embryonic stem cell:	n/a	n/a
16	CCNT2	chr9:98267961-98269299	K562	blood:	n/a	chr9:98268282-98268291
17	CCNT2	chr9:98269535-98271524	K562	blood:	n/a	n/a
18	CEBPB	chr9:98269061-98270479	Hela-S3	cervix:	n/a	chr9:98270007-98270020
19	CEBPB	chr9:98269424-98270462	A549	lung:	n/a	chr9:98270007-98270020
20	CEBPB	chr9:98269152-98269371	K562	blood:	n/a	n/a
21	CEBPB	chr9:98269107-98269301	HepG2	liver:	n/a	n/a
22	CEBPD	chr9:98268002-98268648	HepG2	liver:	n/a	n/a
23	CHD1	chr9:98267470-98268834	H1-hESC	embryonic stem cell:	n/a	n/a
24	CHD1	chr9:98269359-98270459	H1-hESC	embryonic stem cell:	n/a	n/a
25	CHD1	chr9:98267807-98270342	GM12878	blood:	n/a	n/a
26	CHD1	chr9:98266325-98275163	IMR90	lung:	n/a	chr9:98271086-98271096 chr9:98274530-98274540
27	CHD2	chr9:98269698-98270414	GM12878	blood:	n/a	n/a
28	CHD2	chr9:98269649-98269703	HepG2	liver:	n/a	n/a
29	CHD2	chr9:98267902-98268188	GM12878	blood:	n/a	n/a
30	CHD2	chr9:98268229-98270463	Hela-S3	cervix:	n/a	n/a
31	CHD2	chr9:98268514-98269282	GM12878	blood:	n/a	n/a
32	CREB1	chr9:98269105-98269794	A549	lung:	n/a	n/a
33	CREB1	chr9:98267953-98268765	HepG2	liver:	n/a	n/a
34	CREB1	chr9:98267985-98268599	A549	lung:	n/a	n/a
35	CTBP2	chr9:98268942-98270266	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTCF	chr9:98269220-98269370	HEK293	kidney:	n/a	n/a
37	CTCF	chr9:98269030-98269173	GM19239	blood:	n/a	n/a
38	CTCF	chr9:98269480-98269630	AoAF	blood vessel:	n/a	n/a
39	CTCF	chr9:98268591-98269728	K562	blood:	n/a	n/a
40	CTCF	chr9:98269500-98269650	GM12873	blood:	n/a	n/a
41	CTCF	chr9:98268780-98268930	HCPEpiC	choroid plexus:	n/a	n/a
42	CTCF	chr9:98268760-98268910	HBMEC	blood vessel:	n/a	n/a
43	CTCF	chr9:98269480-98269630	HPAF	blood vessel:	n/a	n/a
44	CTCF	chr9:98269460-98269610	AG09319	gingival:	n/a	n/a
45	CTCF	chr9:98269320-98269470	GM12867	blood:	n/a	n/a
46	CTCF	chr9:98269471-98269589	MCF-7	breast:	n/a	n/a
47	CTCF	chr9:98269440-98269590	HPAF	blood vessel:	n/a	n/a
48	CTCF	chr9:98269140-98269290	HAc	cerebellar:	n/a	n/a
49	CTCF	chr9:98268700-98268850	GM06990	blood:	n/a	n/a
50	CTCF	chr9:98269040-98269190	GM12869	blood:	n/a	n/a

(count:367 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:98268788-98268838	GM06990	blood:	n/a
2	chr9:98268788-98268838	GM06990	blood:	n/a
3	chr9:98267529-98267579	K562	blood:	n/a
4	chr9:98269255-98269305	HNPCEpiC	eye:	n/a
5	chr9:98269255-98269305	BJ	skin:	n/a
6	chr9:98267529-98267579	AG04450	lung:	fetal
7	chr9:98269581-98269631	NT2-D1	testis:	n/a
8	chr9:98269581-98269631	NHDF-neo	bronchial:	n/a
9	chr9:98269255-98269305	ovcar-3	ovarian:	n/a
10	chr9:98269317-98269367	NH-A	brain:	n/a
11	chr9:98269317-98269367	HRPEpiC	eye:	n/a
12	chr9:98268788-98268838	SK-N-SH_RA	brain:	n/a
13	chr9:98269317-98269367	PrEC	prostate:	n/a
14	chr9:98267529-98267579	LNCaP	prostate:	n/a
15	chr9:98267529-98267579	HMEC	breast:	n/a
16	chr9:98269255-98269305	T-47D	breast:	n/a
17	chr9:98269255-98269305	CMK	blood:	n/a
18	chr9:98269526-98269576	LNCaP	prostate:	n/a
19	chr9:98269581-98269631	NB4	blood:	n/a
20	chr9:98269581-98269631	AG04450	lung:	fetal
21	chr9:98268788-98268838	HRCEpiC	kidney:	n/a
22	chr9:98269317-98269367	GM12878	blood:	n/a
23	chr9:98269581-98269631	HAEpiC	amniotic membrane:	n/a
24	chr9:98269317-98269367	RPTEC	kidney:	n/a
25	chr9:98268788-98268838	GM12892	blood:	n/a
26	chr9:98269317-98269367	AG09319	gingival:	n/a
27	chr9:98268788-98268838	ProgFib	skin:	n/a
28	chr9:98269317-98269367	T-47D	breast:	n/a
29	chr9:98269526-98269576	NT2-D1	testis:	n/a
30	chr9:98269526-98269576	PANC-1	pancreas:	n/a
31	chr9:98268788-98268838	HPAEpiC	pulmonary alveolar:	n/a
32	chr9:98267529-98267579	SKMC	muscle:	n/a
33	chr9:98269581-98269631	HPAEpiC	pulmonary alveolar:	n/a
34	chr9:98269317-98269367	SK-N-MC	brain:	n/a
35	chr9:98269255-98269305	NB4	blood:	n/a
36	chr9:98269255-98269305	A549	lung:	n/a
37	chr9:98268788-98268838	HNPCEpiC	eye:	n/a
38	chr9:98268788-98268838	HCM	heart:	n/a
39	chr9:98269526-98269576	HRE	kidney:	n/a
40	chr9:98269581-98269631	NH-A	brain:	n/a
41	chr9:98268788-98268838	AG09319	gingival:	n/a
42	chr9:98269581-98269631	ECC-1	luminal epithelium:	n/a
43	chr9:98269317-98269367	HUVEC	blood vessel:	n/a
44	chr9:98269317-98269367	SAEC	small airway:	n/a
45	chr9:98269317-98269367	GM12891	blood:	n/a
46	chr9:98269317-98269367	AG04450	lung:	fetal
47	chr9:98268788-98268838	U87	brain:	n/a
48	chr9:98268788-98268838	BJ	skin:	n/a
49	chr9:98268788-98268838	AG10803	skin:	n/a
50	chr9:98269255-98269305	SK-N-SH_RA	brain:	n/a

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:98266714..98268433-chr9:98632145..98634773,2	MCF-7	breast:
2	chr9:98254778..98257186-chr9:98269292..98272061,2	MCF-7	breast:
3	chr9:98187278..98190652-chr9:98265637..98273315,6	K562	blood:
4	chr9:98262143..98268122-chr9:98269863..98275996,9	MCF-7	breast:
5	chr9:98078830..98081414-chr9:98266391..98270806,3	MCF-7	breast:
6	chr9:98186276..98191956-chr9:98269234..98276633,9	K562	blood:
7	chr9:98246124..98248586-chr9:98264978..98268110,3	K562	blood:
8	chr9:98243853..98250190-chr9:98264163..98273969,14	MCF-7	breast:
9	chr9:98210232..98214386-chr9:98264282..98269915,4	K562	blood:
10	chr9:98188569..98190136-chr9:98266994..98268557,2	MCF-7	breast:
11	chr9:98187644..98190286-chr9:98266151..98268622,2	K562	blood:
12	chr9:98253772..98257280-chr9:98266534..98270044,4	K562	blood:
13	chr9:98187696..98190762-chr9:98268567..98271378,5	MCF-7	breast:
14	chr9:98078123..98080907-chr9:98268002..98270715,3	K562	blood:
15	chr9:98187685..98192036-chr9:98266677..98274746,12	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C9orf102-11	chr9:98268517-98269918	ENSG00000271155.1

No data

Variant related genes	Relation type
ENSG00000271155	TF binding region
PTCH1	TF binding region
ENSG00000271155	CpG island
PTCH1	CpG island
ENSG00000185920	chromatin interactions
ENSG00000237857	chromatin interactions
ENSG00000271314	chromatin interactions
ENSG00000158169	chromatin interactions

Extended variants
information (count: 119 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:119 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189993996	chr9:98267164-98267165	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs571753953	chr9:98267190-98267191	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs542503937	chr9:98267209-98267210	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs181166596	chr9:98267218-98267219	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs550250851	chr9:98267220-98267221	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs185259343	chr9:98267256-98267257	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs543626072	chr9:98267259-98267260	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs568588345	chr9:98267279-98267280	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs562808117	chr9:98267321-98267322	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs533451543	chr9:98267348-98267349	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs551615016	chr9:98267391-98267392	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs560490266	chr9:98267394-98267395	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs527729604	chr9:98267411-98267412	Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs74553730	chr9:98267423-98267424	Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs141248305	chr9:98267444-98267445	Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs535806234	chr9:98267452-98267453	Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs531905033	chr9:98267458-98267459	Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs146250253	chr9:98267475-98267476	Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs571775385	chr9:98267502-98267503	Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs553862995	chr9:98267532-98267533	Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs538722868	chr9:98267547-98267548	Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs553626023	chr9:98267548-98267549	Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs565294798	chr9:98267575-98267576	Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs535849397	chr9:98267582-98267583	Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs78882296	chr9:98267595-98267596	Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs554416921	chr9:98267597-98267598	Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs575948070	chr9:98267599-98267600	Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs137919098	chr9:98267641-98267642	Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs71499905	chr9:98267643-98267644	Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs577013883	chr9:98267655-98267656	Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs559690667	chr9:98267672-98267673	Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs545477533	chr9:98267682-98267683	Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs560580114	chr9:98267699-98267700	Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs527656196	chr9:98267730-98267731	Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs543057815	chr9:98267733-98267734	Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs28620668	chr9:98267746-98267747	Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs189728957	chr9:98267748-98267749	Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs73527750	chr9:98267770-98267771	Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs182076313	chr9:98267794-98267795	Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs370681675	chr9:98267843-98267844	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs573136535	chr9:98267910-98267911	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs376825542	chr9:98267994-98267995	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs528347496	chr9:98268044-98268045	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs532605666	chr9:98268053-98268054	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs547042156	chr9:98268115-98268116	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs186322840	chr9:98268116-98268117	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs565461278	chr9:98268137-98268138	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs373529068	chr9:98268194-98268195	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs28404373	chr9:98268335-98268336	Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs370727606	chr9:98268396-98268397	Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
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
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Biliary cancer	19435499	CNVD
small cell lung cancer	20016488	CNVD
Intracranial aneurysm	16715129	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Basal cell nevus syndrome	21572526	CNVD
Mental retardation	19951919	CNVD
Retinoblastoma	22278416	CNVD
9q22.3 microdeletion syndrome	22283845	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
overgrowth syndrome	16570072	CNVD
Effusion lymphoma	18079361	CNVD
Pancreatic cancer	17952125	CNVD
Neurodevelopmental disorder	22521361	CNVD
Basal cell carcinoma	21518781	CNVD
Breast cancer	22522925	CNVD
Autism	21865298	CNVD

Chromatin state (count:397 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:98240200-98267400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr9:98243000-98267800	Weak transcription	Aorta	Aorta
3	chr9:98254000-98267400	Weak transcription	Small Intestine	intestine
4	chr9:98262800-98267600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr9:98263000-98267800	Weak transcription	Placenta	Placenta
6	chr9:98263000-98267800	Weak transcription	Lung	lung
7	chr9:98264000-98267600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
8	chr9:98264200-98267200	Enhancers	Pancreas	Pancrea
9	chr9:98264400-98267200	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr9:98264600-98268000	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr9:98264600-98268000	Weak transcription	Gastric	stomach
12	chr9:98264800-98267200	Enhancers	Fetal Kidney	kidney
13	chr9:98264800-98267200	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr9:98265200-98267400	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr9:98265200-98267600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr9:98265400-98267200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr9:98265600-98267400	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr9:98265600-98267800	Weak transcription	Fetal Muscle Trunk	muscle
19	chr9:98265800-98267400	Enhancers	NHLF	lung
20	chr9:98265800-98268600	Weak transcription	Stomach Mucosa	stomach
21	chr9:98265800-98271600	Active TSS	Rectal Mucosa Donor 29	rectum
22	chr9:98266200-98267400	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr9:98266400-98267200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr9:98266400-98267200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
25	chr9:98266400-98267200	Flanking Active TSS	Fetal Brain Male	brain
26	chr9:98266400-98267200	Enhancers	Fetal Intestine Large	intestine
27	chr9:98266400-98267200	Flanking Active TSS	Ovary	ovary
28	chr9:98266400-98267200	Flanking Active TSS	GM12878-XiMat	blood
29	chr9:98266400-98267400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr9:98266400-98267400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr9:98266400-98267400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
32	chr9:98266400-98267400	Enhancers	HSMMtube	muscle
33	chr9:98266400-98267400	Enhancers	NH-A	brain
34	chr9:98266400-98267400	Enhancers	NHDF-Ad	bronchial
35	chr9:98266400-98267600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
36	chr9:98266400-98267600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
37	chr9:98266400-98267600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr9:98266400-98267600	Enhancers	Liver	Liver
39	chr9:98266400-98267600	Enhancers	Fetal Muscle Leg	muscle
40	chr9:98266400-98267600	Enhancers	HMEC	breast
41	chr9:98266400-98267800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr9:98266400-98267800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr9:98266400-98267800	Enhancers	Colon Smooth Muscle	Colon
44	chr9:98266400-98268000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr9:98266400-98268000	Transcr. at gene 5' and 3'	Fetal Lung	lung
46	chr9:98266400-98271600	Active TSS	Rectal Mucosa Donor 31	rectum
47	chr9:98266600-98267200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr9:98266600-98267200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr9:98266600-98267200	Flanking Active TSS	Right Atrium	heart
50	chr9:98266600-98267200	Enhancers	Skeletal Muscle Female	skeletal muscle

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