Variant report

Variant	esv3393598
Chromosome Location	chr9:97765956-97768504
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:524)
CpG islands
(count:244)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:524 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:97767954-97768023	K562	blood:	n/a	n/a
2	ARID3A	chr9:97766146-97766825	HepG2	liver:	n/a	n/a
3	ATF3	chr9:97766192-97766782	A549	lung:	n/a	n/a
4	ATF3	chr9:97768473-97769034	A549	lung:	n/a	n/a
5	ATF3	chr9:97767321-97767625	K562	blood:	n/a	chr9:97767351-97767360 chr9:97767585-97767594
6	BACH1	chr9:97767589-97767748	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr9:97766534-97766861	H1-hESC	embryonic stem cell:	n/a	n/a
8	BCL3	chr9:97765727-97767002	A549	lung:	n/a	chr9:97766733-97766746
9	BCL3	chr9:97768451-97769086	A549	lung:	n/a	n/a
10	BCL3	chr9:97767756-97769138	A549	lung:	n/a	n/a
11	BCL3	chr9:97766390-97766979	A549	lung:	n/a	chr9:97766733-97766746
12	BHLHE40	chr9:97766304-97766919	K562	blood:	n/a	n/a
13	BHLHE40	chr9:97767734-97767889	K562	blood:	n/a	n/a
14	BHLHE40	chr9:97767431-97767528	K562	blood:	n/a	n/a
15	BRCA1	chr9:97767949-97769036	Hela-S3	cervix:	n/a	n/a
16	BRCA1	chr9:97766064-97766730	Hela-S3	cervix:	n/a	n/a
17	CCNT2	chr9:97766706-97767799	K562	blood:	n/a	n/a
18	CEBPB	chr9:97768489-97768935	Hela-S3	cervix:	n/a	n/a
19	CEBPB	chr9:97765856-97766450	A549	lung:	n/a	n/a
20	CEBPB	chr9:97766356-97766596	Hela-S3	cervix:	n/a	n/a
21	CEBPD	chr9:97766700-97767114	HepG2	liver:	n/a	n/a
22	CHD1	chr9:97765419-97769266	IMR90	lung:	n/a	chr9:97766713-97766723 chr9:97767626-97767636
23	CHD2	chr9:97767543-97767871	Hela-S3	cervix:	n/a	chr9:97767626-97767636
24	CHD2	chr9:97768457-97768984	Hela-S3	cervix:	n/a	n/a
25	CHD2	chr9:97766380-97767143	Hela-S3	cervix:	n/a	chr9:97766713-97766723
26	CHD2	chr9:97767839-97767860	K562	blood:	n/a	n/a
27	CHD2	chr9:97766728-97766977	HepG2	liver:	n/a	n/a
28	CREB1	chr9:97766374-97766997	A549	lung:	n/a	n/a
29	CREB1	chr9:97767217-97767726	A549	lung:	n/a	n/a
30	CREB1	chr9:97767256-97767685	H1-hESC	embryonic stem cell:	n/a	n/a
31	CREB1	chr9:97767270-97767745	K562	blood:	n/a	n/a
32	CREB1	chr9:97766265-97768024	HepG2	liver:	n/a	n/a
33	CTCF	chr9:97766420-97766570	GM12873	blood:	n/a	n/a
34	CTCF	chr9:97766380-97766530	WI-38	lung:	n/a	n/a
35	CTCF	chr9:97766460-97766610	MCF-7	breast:	n/a	n/a
36	CTCF	chr9:97766460-97766471	Hela-S3	cervix:	n/a	n/a
37	CTCF	chr9:97766400-97766550	HRE	kidney:	n/a	n/a
38	CTCF	chr9:97766400-97766550	HPAF	blood vessel:	n/a	n/a
39	CTCF	chr9:97766340-97766490	GM12873	blood:	n/a	n/a
40	CTCF	chr9:97766440-97766590	A549	lung:	n/a	n/a
41	CTCF	chr9:97766420-97766570	AG10803	skin:	n/a	n/a
42	CTCF	chr9:97766820-97766970	HMEC	breast:	n/a	n/a
43	CTCF	chr9:97766305-97766606	IMR90	lung:	n/a	n/a
44	CTCF	chr9:97766500-97766650	HVMF	connective:	n/a	n/a
45	CTCF	chr9:97766480-97766630	HFF-Myc	foreskin:	n/a	n/a
46	CTCF	chr9:97766400-97766550	AG04449	skin:	n/a	n/a
47	CTCF	chr9:97766460-97766610	HMF	breast:	n/a	n/a
48	CTCF	chr9:97766400-97766550	HUVEC	blood vessel:	n/a	n/a
49	CTCF	chr9:97766400-97766550	AG09309	skin:	n/a	n/a
50	CTCF	chr9:97766440-97766590	AG09309	skin:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:97766849-97766899	AoSMC	blood vessel:	n/a
2	chr9:97766849-97766899	Hepatocyte	liver:	n/a
3	chr9:97766849-97766899	HEEpiC	esophagus:	n/a
4	chr9:97766650-97766700	NT2-D1	testis:	n/a
5	chr9:97767458-97767508	AG09309	skin:	n/a
6	chr9:97767954-97768004	HUVEC	blood vessel:	n/a
7	chr9:97766650-97766700	Jurkat	blood:	n/a
8	chr9:97767458-97767508	PFSK-1	brain:	n/a
9	chr9:97766650-97766700	HRE	kidney:	n/a
10	chr9:97766849-97766899	SK-N-SH_RA	brain:	n/a
11	chr9:97767954-97768004	MCF-7	breast:	n/a
12	chr9:97767458-97767508	NH-A	brain:	n/a
13	chr9:97767458-97767508	HUVEC	blood vessel:	n/a
14	chr9:97766650-97766700	HCPEpiC	choroid plexus:	n/a
15	chr9:97766650-97766700	BJ	skin:	n/a
16	chr9:97766849-97766899	A549	lung:	n/a
17	chr9:97767954-97768004	MCF10A-Er-Src	breast:	n/a
18	chr9:97767954-97768004	SK-N-SH	brain:	n/a
19	chr9:97767954-97768004	HCM	heart:	n/a
20	chr9:97767954-97768004	PFSK-1	brain:	n/a
21	chr9:97766650-97766700	AG04449	skin:	fetal
22	chr9:97766849-97766899	SKMC	muscle:	n/a
23	chr9:97767458-97767508	H1-hESC	embryonic stem cell:	embryo
24	chr9:97766650-97766700	SK-N-SH	brain:	n/a
25	chr9:97766650-97766700	SK-N-MC	brain:	n/a
26	chr9:97766849-97766899	HCPEpiC	choroid plexus:	n/a
27	chr9:97766650-97766700	U87	brain:	n/a
28	chr9:97767954-97768004	HIPEpiC	eye:	n/a
29	chr9:97766650-97766700	HEEpiC	esophagus:	n/a
30	chr9:97767954-97768004	ProgFib	skin:	n/a
31	chr9:97767458-97767508	PANC-1	pancreas:	n/a
32	chr9:97766849-97766899	AG10803	skin:	n/a
33	chr9:97766650-97766700	PrEC	prostate:	n/a
34	chr9:97767458-97767508	U87	brain:	n/a
35	chr9:97767458-97767508	CMK	blood:	n/a
36	chr9:97767954-97768004	GM19239	blood:	n/a
37	chr9:97766650-97766700	IMR90	lung:	fetal
38	chr9:97766650-97766700	GM19239	blood:	n/a
39	chr9:97767954-97768004	NB4	blood:	n/a
40	chr9:97767458-97767508	AG09319	gingival:	n/a
41	chr9:97766650-97766700	PANC-1	pancreas:	n/a
42	chr9:97766650-97766700	NB4	blood:	n/a
43	chr9:97766849-97766899	AG09309	skin:	n/a
44	chr9:97766849-97766899	HRE	kidney:	n/a
45	chr9:97766849-97766899	NB4	blood:	n/a
46	chr9:97767458-97767508	NB4	blood:	n/a
47	chr9:97766849-97766899	HEK293	kidney:	embryo
48	chr9:97766849-97766899	BE2_C	brain:	n/a
49	chr9:97767954-97768004	AG10803	skin:	n/a
50	chr9:97766650-97766700	PFSK-1	brain:	n/a

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:97316005..97317970-chr9:97766242..97767931,2	MCF-7	breast:
2	chr9:97587607..97589933-chr9:97767549..97770278,2	MCF-7	breast:
3	chr9:97728899..97731372-chr9:97764520..97766152,2	MCF-7	breast:
4	chr9:97671639..97694679-chr9:97760418..97786060,142	MCF-7	breast:
5	chr9:97674991..97691307-chr9:97751911..97773298,151	MCF-7	breast:
6	chr17:62222763..62223518-chr9:97766146..97766865,2	Hela-S3	cervix:
7	chr9:97566294..97568352-chr9:97767960..97769924,2	MCF-7	breast:
8	chr9:97768005..97769861-chr9:98936527..98938758,2	K562	blood:
9	chr9:97768459..97771257-chr9:97817268..97820157,2	K562	blood:
10	chr1:149856773..149859757-chr9:97767567..97770095,2	MCF-7	breast:
11	chr9:97765581..97769970-chr9:97809027..97814302,8	MCF-7	breast:
12	chr6:57036948..57037917-chr9:97766420..97767200,2	Hela-S3	cervix:
13	chr9:97561245..97563934-chr9:97767178..97770063,2	MCF-7	breast:
14	chr9:97684190..97685424-chr9:97768217..97769091,3	MCF-7	breast:
15	chr16:28832667..28835339-chr9:97766191..97767859,2	MCF-7	breast:
16	chr9:97763635..97773461-chr9:97847821..97861280,36	MCF-7	breast:
17	chr9:97763979..97769403-chr9:97805439..97812937,10	MCF-7	breast:
18	chr9:97441331..97443986-chr9:97767707..97769717,2	MCF-7	breast:
19	chr9:97767984..97771413-chr9:97863181..97865279,3	MCF-7	breast:

No data

Variant related genes	Relation type
C9orf3	TF binding region
C9orf3	CpG island
ENSG00000260796	chromatin interactions
ENSG00000112208	chromatin interactions
ENSG00000184270	chromatin interactions
ENSG00000226803	chromatin interactions
ENSG00000199753	chromatin interactions
ENSG00000266402	chromatin interactions
ENSG00000148120	chromatin interactions
ENSG00000168488	chromatin interactions
ENSG00000231806	chromatin interactions
ENSG00000178096	chromatin interactions
ENSG00000184678	chromatin interactions
ENSG00000184260	chromatin interactions
ENSG00000207617	chromatin interactions

Extended variants
information (count: 77 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575861003	chr9:97765968-97765969	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs543274480	chr9:97765992-97765993	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs570180541	chr9:97765994-97765995	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs3830200	chr9:97765999-97766000	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs397840507	chr9:97766000-97766001	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs530860165	chr9:97766004-97766005	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs552745140	chr9:97766008-97766009	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs41281184	chr9:97766084-97766085	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs2306207	chr9:97766209-97766210	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs553278800	chr9:97766244-97766245	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs568397732	chr9:97766274-97766275	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs187310344	chr9:97766356-97766357	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs192833335	chr9:97766376-97766377	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
14	rs147484915	chr9:97766408-97766409	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
15	rs376260238	chr9:97766423-97766424	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
16	rs536163054	chr9:97766482-97766483	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
17	rs556509530	chr9:97766488-97766489	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
18	rs575000470	chr9:97766500-97766501	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
19	rs545540999	chr9:97766516-97766517	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
20	rs114112531	chr9:97766544-97766545	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
21	rs573000294	chr9:97766548-97766549	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
22	rs3208472	chr9:97766550-97766551	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
23	rs540403289	chr9:97766569-97766570	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
24	rs562000603	chr9:97766584-97766585	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
25	rs184975989	chr9:97766585-97766586	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
26	rs542266758	chr9:97766623-97766624	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
27	rs576802995	chr9:97766676-97766677	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
28	rs187801305	chr9:97766714-97766715	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
29	rs370374326	chr9:97766795-97766796	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
30	rs552434944	chr9:97766834-97766835	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
31	rs570899465	chr9:97766935-97766936	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
32	rs528712917	chr9:97767341-97767342	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs539635656	chr9:97767380-97767381	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs376573314	chr9:97767436-97767437	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs199518723	chr9:97767443-97767444	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs200844547	chr9:97767455-97767456	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs546755654	chr9:97767487-97767488	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs192735443	chr9:97767501-97767502	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs535706186	chr9:97767513-97767514	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs550172011	chr9:97767569-97767570	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
41	rs568800441	chr9:97767574-97767575	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
42	rs539416123	chr9:97767658-97767659	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
43	rs557598724	chr9:97767661-97767662	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
44	rs572882009	chr9:97767708-97767709	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
45	rs533765174	chr9:97767710-97767711	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
46	rs555575378	chr9:97767713-97767714	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
47	rs116977854	chr9:97767724-97767725	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
48	rs544556715	chr9:97767734-97767735	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
49	rs115119772	chr9:97767752-97767753	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
50	rs373187035	chr9:97767771-97767772	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Microcephaly	18830227	CNVD
overgrowth syndrome	16570072	CNVD
Effusion lymphoma	18079361	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:373 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97670600-97766000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr9:97736600-97766200	Weak transcription	Right Ventricle	heart
3	chr9:97755200-97766400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr9:97758400-97766000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr9:97758400-97766400	Weak transcription	Gastric	stomach
6	chr9:97758600-97766400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr9:97759200-97766200	Weak transcription	Brain Angular Gyrus	brain
8	chr9:97759200-97766200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr9:97759400-97766000	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr9:97759400-97766000	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr9:97759400-97766200	Weak transcription	Stomach Mucosa	stomach
12	chr9:97762200-97766200	Weak transcription	Placenta	Placenta
13	chr9:97763000-97766000	Enhancers	Fetal Stomach	stomach
14	chr9:97763400-97766400	Weak transcription	Lung	lung
15	chr9:97763600-97766000	Weak transcription	HMEC	breast
16	chr9:97763600-97766200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr9:97763600-97766200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr9:97763600-97766200	Weak transcription	Right Atrium	heart
19	chr9:97763600-97766400	Weak transcription	Psoas Muscle	Psoas
20	chr9:97764600-97766000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr9:97764600-97766000	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr9:97764600-97766000	Enhancers	Muscle Satellite Cultured Cells	--
23	chr9:97764600-97766000	Enhancers	Fetal Lung	lung
24	chr9:97765000-97766000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr9:97765000-97766000	Enhancers	Duodenum Mucosa	Duodenum
26	chr9:97765000-97766000	Enhancers	Fetal Heart	heart
27	chr9:97765000-97766000	Enhancers	Fetal Intestine Large	intestine
28	chr9:97765000-97766000	Enhancers	Fetal Kidney	kidney
29	chr9:97765000-97766000	Enhancers	Hela-S3	cervix
30	chr9:97765000-97766000	Enhancers	HepG2	liver
31	chr9:97765000-97766000	Enhancers	NHDF-Ad	bronchial
32	chr9:97765000-97766000	Enhancers	NHLF	lung
33	chr9:97765000-97766200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr9:97765000-97766200	Enhancers	Brain Hippocampus Middle	brain
35	chr9:97765000-97766200	Enhancers	Fetal Intestine Small	intestine
36	chr9:97765000-97768600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr9:97765000-97770400	Active TSS	Rectal Mucosa Donor 31	rectum
38	chr9:97765200-97766000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr9:97765200-97766000	Enhancers	HUVEC	blood vessel
40	chr9:97765200-97766200	Enhancers	Brain Anterior Caudate	brain
41	chr9:97765200-97766200	Enhancers	Brain Cingulate Gyrus	brain
42	chr9:97765200-97766200	Enhancers	Brain Substantia Nigra	brain
43	chr9:97765200-97770600	Active TSS	Aorta	Aorta
44	chr9:97765400-97766000	Weak transcription	Ovary	ovary
45	chr9:97765400-97766000	Enhancers	Rectal Smooth Muscle	rectum
46	chr9:97765400-97766000	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr9:97765400-97766000	Enhancers	HSMMtube	muscle
48	chr9:97765400-97766200	Weak transcription	Left Ventricle	heart
49	chr9:97765400-97766400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr9:97765400-97766400	Weak transcription	Pancreas	Pancrea

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