Variant report

Variant	nsv615217
Chromosome Location	chr9:116363877-116397397
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:866)
CpG islands
(count:61)
Chromatin interactive
region (count:48)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:866 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:116382820-116383077	HepG2	liver:	n/a	n/a
2	ARID3A	chr9:116372138-116372489	HepG2	liver:	n/a	n/a
3	ARID3A	chr9:116391132-116391133	HepG2	liver:	n/a	n/a
4	ARID3A	chr9:116384914-116385574	HepG2	liver:	n/a	n/a
5	ARID3A	chr9:116376294-116376349	HepG2	liver:	n/a	n/a
6	ATF1	chr9:116364371-116364692	K562	blood:	n/a	n/a
7	ATF2	chr9:116382711-116383313	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr9:116385186-116385785	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr9:116364344-116364774	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF2	chr9:116382718-116383223	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF2	chr9:116385103-116385621	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF3	chr9:116382699-116383222	A549	lung:	n/a	n/a
13	ATF3	chr9:116382768-116383032	K562	blood:	n/a	n/a
14	ATF3	chr9:116382824-116383173	H1-hESC	embryonic stem cell:	n/a	n/a
15	ATF3	chr9:116366723-116366919	K562	blood:	n/a	n/a
16	BACH1	chr9:116372310-116372500	H1-hESC	embryonic stem cell:	n/a	n/a
17	BACH1	chr9:116385319-116385849	H1-hESC	embryonic stem cell:	n/a	n/a
18	BHLHE40	chr9:116396127-116396646	HepG2	liver:	n/a	n/a
19	BHLHE40	chr9:116377619-116377877	GM12878	blood:	n/a	n/a
20	BHLHE40	chr9:116396332-116396620	K562	blood:	n/a	n/a
21	BHLHE40	chr9:116364369-116365123	K562	blood:	n/a	n/a
22	BHLHE40	chr9:116364735-116365218	HepG2	liver:	n/a	n/a
23	CBX3	chr9:116366546-116366890	K562	blood:	n/a	n/a
24	CCNT2	chr9:116364407-116364674	K562	blood:	n/a	chr9:116364569-116364578
25	CCNT2	chr9:116375263-116375436	K562	blood:	n/a	n/a
26	CEBPB	chr9:116364534-116364681	HepG2	liver:	n/a	n/a
27	CEBPB	chr9:116382813-116383073	IMR90	lung:	n/a	n/a
28	CEBPB	chr9:116364584-116364597	K562	blood:	n/a	n/a
29	CEBPB	chr9:116385185-116385485	H1-hESC	embryonic stem cell:	n/a	n/a
30	CEBPB	chr9:116394946-116395391	IMR90	lung:	n/a	n/a
31	CEBPB	chr9:116385265-116385559	IMR90	lung:	n/a	n/a
32	CEBPB	chr9:116382840-116383098	Hela-S3	cervix:	n/a	n/a
33	CEBPB	chr9:116382792-116383041	H1-hESC	embryonic stem cell:	n/a	n/a
34	CEBPB	chr9:116394328-116394654	IMR90	lung:	n/a	n/a
35	CEBPB	chr9:116377193-116377726	IMR90	lung:	n/a	n/a
36	CEBPB	chr9:116382888-116383139	HepG2	liver:	n/a	n/a
37	CHD2	chr9:116372137-116372469	HepG2	liver:	n/a	n/a
38	CHD2	chr9:116382786-116383006	H1-hESC	embryonic stem cell:	n/a	n/a
39	CHD2	chr9:116385498-116385611	HepG2	liver:	n/a	n/a
40	CHD2	chr9:116382848-116383196	Hela-S3	cervix:	n/a	n/a
41	CHD2	chr9:116385248-116385621	H1-hESC	embryonic stem cell:	n/a	n/a
42	CHD2	chr9:116371781-116372554	H1-hESC	embryonic stem cell:	n/a	n/a
43	CHD2	chr9:116377356-116377805	GM12878	blood:	n/a	n/a
44	CHD2	chr9:116382889-116383066	HepG2	liver:	n/a	n/a
45	CREB1	chr9:116385163-116385556	H1-hESC	embryonic stem cell:	n/a	n/a
46	CREB1	chr9:116364306-116364634	GM12878	blood:	n/a	n/a
47	CREB1	chr9:116364397-116364801	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr9:116364431-116364513	GM12891	blood:	n/a	n/a
49	CTCF	chr9:116370700-116370850	HPAF	blood vessel:	n/a	n/a
50	CTCF	chr9:116364440-116364590	HMEC	breast:	n/a	chr9:116364563-116364576

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:116372034-116372084	LNCaP	prostate:	n/a
2	chr9:116372034-116372084	PANC-1	pancreas:	n/a
3	chr9:116372034-116372084	U87	brain:	n/a
4	chr9:116372034-116372084	A549	lung:	n/a
5	chr9:116372034-116372084	NHBE	bronchial:	n/a
6	chr9:116372034-116372084	ovcar-3	ovarian:	n/a
7	chr9:116372034-116372084	HRPEpiC	eye:	n/a
8	chr9:116372034-116372084	SK-N-SH	brain:	n/a
9	chr9:116372034-116372084	HCT-116	colon:	n/a
10	chr9:116372034-116372084	HIPEpiC	eye:	n/a
11	chr9:116372034-116372084	PrEC	prostate:	n/a
12	chr9:116372034-116372084	Caco-2	colon:	n/a
13	chr9:116372034-116372084	BJ	skin:	n/a
14	chr9:116372034-116372084	MCF10A-Er-Src	breast:	n/a
15	chr9:116372034-116372084	SKMC	muscle:	n/a
16	chr9:116372034-116372084	NH-A	brain:	n/a
17	chr9:116372034-116372084	AG04449	skin:	fetal
18	chr9:116372034-116372084	MCF-7	breast:	n/a
19	chr9:116372034-116372084	BE2_C	brain:	n/a
20	chr9:116372034-116372084	NT2-D1	testis:	n/a
21	chr9:116372034-116372084	GM12878	blood:	n/a
22	chr9:116372034-116372084	HL-60	blood:	n/a
23	chr9:116372034-116372084	HAEpiC	amniotic membrane:	n/a
24	chr9:116372034-116372084	GM06990	blood:	n/a
25	chr9:116372034-116372084	HMEC	breast:	n/a
26	chr9:116372034-116372084	NHDF-neo	bronchial:	n/a
27	chr9:116372034-116372084	GM19239	blood:	n/a
28	chr9:116372034-116372084	HEK293	kidney:	embryo
29	chr9:116372034-116372084	AG10803	skin:	n/a
30	chr9:116372034-116372084	HNPCEpiC	eye:	n/a
31	chr9:116372034-116372084	K562	blood:	n/a
32	chr9:116372034-116372084	HUVEC	blood vessel:	n/a
33	chr9:116372034-116372084	HCF	heart:	n/a
34	chr9:116372034-116372084	RPTEC	kidney:	n/a
35	chr9:116372034-116372084	HRE	kidney:	n/a
36	chr9:116372034-116372084	T-47D	breast:	n/a
37	chr9:116372034-116372084	Jurkat	blood:	n/a
38	chr9:116372034-116372084	AoSMC	blood vessel:	n/a
39	chr9:116372034-116372084	GM12891	blood:	n/a
40	chr9:116372034-116372084	Hepatocyte	liver:	n/a
41	chr9:116372034-116372084	AG09309	skin:	n/a
42	chr9:116372034-116372084	HRCEpiC	kidney:	n/a
43	chr9:116372034-116372084	H1-hESC	embryonic stem cell:	embryo
44	chr9:116372034-116372084	AG09319	gingival:	n/a
45	chr9:116372034-116372084	NB4	blood:	n/a
46	chr9:116372034-116372084	Hela-S3	cervix:	n/a
47	chr9:116372034-116372084	GM12892	blood:	n/a
48	chr9:116372034-116372084	PFSK-1	brain:	n/a
49	chr9:116372034-116372084	CMK	blood:	n/a
50	chr9:116372034-116372084	SK-N-MC	brain:	n/a

(count:48 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:116395680..116398027-chr9:116408814..116410400,2	MCF-7	breast:
2	chr9:116385601..116388209-chr9:116407553..116409087,2	MCF-7	breast:
3	chr9:116376628..116378313-chr9:116382222..116384609,3	MCF-7	breast:
4	chr9:116368474..116370761-chr9:116371001..116373367,2	MCF-7	breast:
5	chr9:116383167..116386391-chr9:116389906..116398638,8	MCF-7	breast:
6	chr9:116392305..116395161-chr9:116397306..116400059,2	MCF-7	breast:
7	chr9:116392305..116395161-chr9:116397306..116400059,2	MCF-7	breast:
8	chr9:116357889..116361731-chr9:116362609..116366505,5	MCF-7	breast:
9	chr9:116387727..116389592-chr9:116393862..116395666,2	K562	blood:
10	chr9:116383167..116386391-chr9:116389906..116398638,8	MCF-7	breast:
11	chr9:116364672..116367023-chr9:116368239..116370280,2	MCF-7	breast:
12	chr9:116371231..116372845-chr9:116374624..116376242,2	MCF-7	breast:
13	chr9:116387727..116389592-chr9:116393862..116395666,2	K562	blood:
14	chr9:116383635..116386801-chr9:116393462..116397071,5	MCF-7	breast:
15	chr9:116379738..116382118-chr9:116392822..116396167,3	MCF-7	breast:
16	chr9:116172702..116174409-chr9:116381360..116383255,2	MCF-7	breast:
17	chr9:116382976..116384778-chr9:116398456..116400066,2	MCF-7	breast:
18	chr9:116368474..116370761-chr9:116371001..116373367,2	MCF-7	breast:
19	chr9:116368954..116370603-chr9:116373905..116376244,2	MCF-7	breast:
20	chr9:116386561..116388140-chr9:116399851..116401503,2	MCF-7	breast:
21	chr9:116353752..116357757-chr9:116360190..116364418,7	K562	blood:
22	chr9:116385537..116387562-chr9:116409870..116412944,3	MCF-7	breast:
23	chr9:116388280..116391769-chr9:116395247..116396966,3	MCF-7	breast:
24	chr9:116382263..116386126-chr9:116386783..116389124,3	MCF-7	breast:
25	chr9:116343200..116345201-chr9:116363106..116364913,2	MCF-7	breast:
26	chr9:116382263..116386126-chr9:116386783..116389124,3	MCF-7	breast:
27	chr9:116375318..116378265-chr9:116400477..116402122,2	K562	blood:
28	chr9:116378512..116381632-chr9:116384610..116387755,3	MCF-7	breast:
29	chr9:116368318..116370482-chr9:116376784..116379532,2	MCF-7	breast:
30	chr9:116348874..116350912-chr9:116362853..116364416,2	MCF-7	breast:
31	chr9:116368954..116370603-chr9:116373905..116376244,2	MCF-7	breast:
32	chr9:116364672..116367023-chr9:116368239..116370280,2	MCF-7	breast:
33	chr9:116376628..116378313-chr9:116382222..116384609,3	MCF-7	breast:
34	chr9:116356309..116357937-chr9:116375558..116377978,2	MCF-7	breast:
35	chr9:116354124..116355971-chr9:116365134..116366899,2	MCF-7	breast:
36	chr9:116396277..116398394-chr9:116409096..116411903,2	MCF-7	breast:
37	chr9:116364314..116366664-chr9:116377313..116378930,2	MCF-7	breast:
38	chr9:116368318..116370482-chr9:116376784..116379532,2	MCF-7	breast:
39	chr9:116371231..116372845-chr9:116374624..116376242,2	MCF-7	breast:
40	chr9:116383635..116386801-chr9:116393462..116397071,5	MCF-7	breast:
41	chr9:116384013..116386920-chr9:116410896..116413460,2	MCF-7	breast:
42	chr9:116362421..116364215-chr9:116382528..116385259,2	MCF-7	breast:
43	chr9:116393296..116396126-chr9:116417264..116418987,2	MCF-7	breast:
44	chr9:116376834..116379828-chr9:116381468..116382973,2	MCF-7	breast:
45	chr9:116362421..116364215-chr9:116382528..116385259,2	MCF-7	breast:
46	chr9:116364314..116366664-chr9:116377313..116378930,2	MCF-7	breast:
47	chr9:116388280..116391769-chr9:116395247..116396966,3	MCF-7	breast:
48	chr9:116373324..116375940-chr9:116380563..116382794,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RGS3-1	chr9:116381508-116381691	ENSG00000233817
2	lnc-RGS3-1	chr9:116382056-116384914	ENSG00000233817

No data

Variant related genes	Relation type
ENSG00000233817	TF binding region
ENSG00000233817	CpG island
ENSG00000148229	chromatin interactions
ENSG00000138835	chromatin interactions
ENSG00000227482	chromatin interactions
ENSG00000233817	chromatin interactions
ENSG00000157653	chromatin interactions
SIPA1L2	miRNA target sites
LPHN1	miRNA target sites

Extended variants
information (count: 1306 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:1306 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs511561	chr9:116363877-116363878	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs34487409	chr9:116363886-116363887	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs548638856	chr9:116363896-116363897	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs559024306	chr9:116363902-116363903	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs554104163	chr9:116363925-116363926	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs572753453	chr9:116363945-116363946	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs540270992	chr9:116363946-116363947	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs528035959	chr9:116364059-116364060	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs373469511	chr9:116364094-116364095	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs111380376	chr9:116364152-116364153	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
11	rs571264750	chr9:116364164-116364165	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs377700236	chr9:116364217-116364218	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs369956604	chr9:116364224-116364225	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs551294765	chr9:116364309-116364310	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs78005924	chr9:116364312-116364313	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs76842918	chr9:116364364-116364365	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs77809967	chr9:116364365-116364366	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs573385127	chr9:116364366-116364367	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs533716476	chr9:116364386-116364387	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs539176536	chr9:116364421-116364422	Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs558990319	chr9:116364438-116364439	Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs575628222	chr9:116364440-116364441	Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs543317264	chr9:116364456-116364457	Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs557243700	chr9:116364478-116364479	Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs76871699	chr9:116364492-116364493	Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs73538901	chr9:116364509-116364510	Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs542420462	chr9:116364517-116364518	Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs559160842	chr9:116364549-116364550	Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs528167919	chr9:116364550-116364551	Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs544729098	chr9:116364574-116364575	Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs564714074	chr9:116364575-116364576	Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs530546710	chr9:116364578-116364579	Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs187705736	chr9:116364609-116364610	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs11789746	chr9:116364620-116364621	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs530278327	chr9:116364656-116364657	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs547207830	chr9:116364758-116364759	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs563896607	chr9:116364807-116364808	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs567117350	chr9:116364820-116364821	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs142759239	chr9:116364860-116364861	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs559024849	chr9:116364885-116364886	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs377646148	chr9:116364914-116364915	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
42	rs538239940	chr9:116364920-116364921	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
43	rs192328953	chr9:116364925-116364926	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
44	rs7027210	chr9:116364928-116364929	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs147370596	chr9:116364958-116364959	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
46	rs572551926	chr9:116364995-116364996	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
47	rs572738030	chr9:116365049-116365050	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs148422705	chr9:116365055-116365056	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs541713998	chr9:116365100-116365101	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs78347787	chr9:116365109-116365110	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Breast cancer	22522925	CNVD

Chromatin state (count:1250 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116357400-116364800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr9:116357400-116364800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr9:116357800-116364400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr9:116358000-116371800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr9:116359800-116364400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr9:116360000-116364000	Genic enhancers	NHLF	lung
7	chr9:116360000-116364200	Weak transcription	Fetal Thymus	thymus
8	chr9:116360200-116364000	Weak transcription	GM12878-XiMat	blood
9	chr9:116360200-116365400	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr9:116360200-116366400	Enhancers	Placenta	Placenta
11	chr9:116360400-116364000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr9:116360400-116364200	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr9:116360400-116364400	Weak transcription	Small Intestine	intestine
14	chr9:116360400-116364600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr9:116360400-116364600	Weak transcription	Fetal Brain Female	brain
16	chr9:116360400-116371800	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr9:116360600-116364000	Weak transcription	Primary B cells from peripheral blood	blood
18	chr9:116360600-116364000	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr9:116360600-116364000	Weak transcription	Stomach Mucosa	stomach
20	chr9:116360600-116364200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr9:116360600-116365800	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr9:116360600-116366000	Enhancers	Right Ventricle	heart
23	chr9:116360800-116364200	Weak transcription	Gastric	stomach
24	chr9:116360800-116364400	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr9:116360800-116366000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr9:116360800-116366000	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr9:116360800-116366000	Enhancers	NHDF-Ad	bronchial
28	chr9:116360800-116366600	Enhancers	Liver	Liver
29	chr9:116361000-116364000	Weak transcription	Colonic Mucosa	Colon
30	chr9:116361000-116364000	Weak transcription	Colon Smooth Muscle	Colon
31	chr9:116361000-116364400	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr9:116361000-116364400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr9:116361000-116364400	Weak transcription	Duodenum Mucosa	Duodenum
34	chr9:116361000-116364600	Weak transcription	Brain Germinal Matrix	brain
35	chr9:116361000-116364600	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr9:116361000-116365600	Enhancers	Left Ventricle	heart
37	chr9:116361000-116366400	Enhancers	Fetal Muscle Leg	muscle
38	chr9:116361200-116364200	Weak transcription	Fetal Intestine Large	intestine
39	chr9:116361200-116364200	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr9:116361200-116365600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr9:116361200-116365800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr9:116361200-116366600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr9:116361400-116364200	Weak transcription	Primary B cells from cord blood	blood
44	chr9:116361400-116366000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr9:116361400-116366000	Enhancers	Fetal Lung	lung
46	chr9:116361400-116367000	Enhancers	Adipose Nuclei	Adipose
47	chr9:116361600-116364800	Enhancers	Spleen	Spleen
48	chr9:116361600-116365000	Enhancers	HSMM	muscle
49	chr9:116361600-116365600	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr9:116361800-116365000	Enhancers	HUVEC	blood vessel

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