Variant report

Variant	nsv893426
Chromosome Location	chr9:71659280-71719618
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	chr9:71701730-71702036	HepG2	liver:	n/a	n/a
2	ARID3A	chr9:71719221-71720293	HepG2	liver:	n/a	chr9:71719768-71719784 chr9:71719315-71719331
3	BHLHE40	chr9:71669163-71669440	GM12878	blood:	n/a	n/a
4	CBX3	chr9:71700804-71701130	K562	blood:	n/a	n/a
5	CEBPB	chr9:71690577-71690678	HepG2	liver:	n/a	chr9:71690616-71690627 chr9:71690614-71690627 chr9:71690614-71690625
6	CEBPB	chr9:71686914-71687200	IMR90	lung:	n/a	n/a
7	CEBPB	chr9:71713079-71713512	IMR90	lung:	n/a	chr9:71713084-71713095 chr9:71713084-71713095 chr9:71713080-71713091 chr9:71713080-71713091
8	CEBPB	chr9:71717820-71717911	H1-hESC	embryonic stem cell:	n/a	n/a
9	CEBPB	chr9:71696182-71696577	IMR90	lung:	n/a	n/a
10	CEBPB	chr9:71669175-71669463	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr9:71717877-71718004	K562	blood:	n/a	n/a
12	CEBPB	chr9:71712063-71712316	IMR90	lung:	n/a	n/a
13	CHD1	chr9:71669113-71669565	IMR90	lung:	n/a	n/a
14	CHD2	chr9:71681870-71682087	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTBP2	chr9:71705107-71705624	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr9:71669220-71669370	HCFaa	heart:	n/a	chr9:71669295-71669316 chr9:71669293-71669311 chr9:71669296-71669305 chr9:71669294-71669310 chr9:71669298-71669308 chr9:71669296-71669309
17	CTCF	chr9:71669260-71669410	Hela-S3	cervix:	n/a	chr9:71669295-71669316 chr9:71669293-71669311 chr9:71669296-71669305 chr9:71669294-71669310 chr9:71669298-71669308 chr9:71669296-71669309
18	CTCF	chr9:71669149-71669421	A549	lung:	n/a	chr9:71669295-71669316 chr9:71669293-71669311 chr9:71669296-71669305 chr9:71669294-71669310 chr9:71669298-71669308 chr9:71669296-71669309
19	CTCF	chr9:71669088-71669515	MCF-7	breast:	n/a	chr9:71669295-71669316 chr9:71669293-71669311 chr9:71669296-71669305 chr9:71669294-71669310 chr9:71669298-71669308 chr9:71669296-71669309
20	CTCF	chr9:71704480-71704630	RPTEC	kidney:	n/a	n/a
21	CTCF	chr9:71669200-71669350	HL-60	blood:	n/a	chr9:71669295-71669316 chr9:71669293-71669311 chr9:71669296-71669305 chr9:71669294-71669310 chr9:71669298-71669308 chr9:71669296-71669309
22	CTCF	chr9:71668988-71669583	HCT-116	colon:	n/a	chr9:71669295-71669316 chr9:71669293-71669311 chr9:71669296-71669305 chr9:71669294-71669310 chr9:71669298-71669308 chr9:71669296-71669309
23	CTCF	chr9:71669157-71669394	MCF-7	breast:	n/a	chr9:71669295-71669316 chr9:71669293-71669311 chr9:71669296-71669305 chr9:71669294-71669310 chr9:71669298-71669308 chr9:71669296-71669309
24	CTCF	chr9:71669500-71669507	GM13977	blood:	n/a	n/a
25	CTCF	chr9:71669240-71669390	MCF-7	breast:	n/a	chr9:71669295-71669316 chr9:71669293-71669311 chr9:71669296-71669305 chr9:71669294-71669310 chr9:71669298-71669308 chr9:71669296-71669309
26	CTCF	chr9:71669141-71669462	GM12878	blood:	n/a	chr9:71669295-71669316 chr9:71669293-71669311 chr9:71669296-71669305 chr9:71669294-71669310 chr9:71669298-71669308 chr9:71669296-71669309
27	CTCF	chr9:71669240-71669390	SK-N-SH_RA	brain:	n/a	chr9:71669295-71669316 chr9:71669293-71669311 chr9:71669296-71669305 chr9:71669294-71669310 chr9:71669298-71669308 chr9:71669296-71669309
28	CTCF	chr9:71669220-71669370	HA-sp	spinal cord:	n/a	chr9:71669295-71669316 chr9:71669293-71669311 chr9:71669296-71669305 chr9:71669294-71669310 chr9:71669298-71669308 chr9:71669296-71669309
29	CTCF	chr9:71669220-71669370	HUVEC	blood vessel:	n/a	chr9:71669295-71669316 chr9:71669293-71669311 chr9:71669296-71669305 chr9:71669294-71669310 chr9:71669298-71669308 chr9:71669296-71669309
30	CTCF	chr9:71669421-71669423	ProgFib	skin:	n/a	n/a
31	CTCF	chr9:71669240-71669390	HMF	breast:	n/a	chr9:71669295-71669316 chr9:71669293-71669311 chr9:71669296-71669305 chr9:71669294-71669310 chr9:71669298-71669308 chr9:71669296-71669309
32	CTCF	chr9:71669202-71669374	GM20000	blood:	n/a	chr9:71669295-71669316 chr9:71669293-71669311 chr9:71669296-71669305 chr9:71669294-71669310 chr9:71669298-71669308 chr9:71669296-71669309
33	CTCF	chr9:71669240-71669390	HepG2	liver:	n/a	chr9:71669295-71669316 chr9:71669293-71669311 chr9:71669296-71669305 chr9:71669294-71669310 chr9:71669298-71669308 chr9:71669296-71669309
34	CTCF	chr9:71669260-71669410	Caco-2	colon:	n/a	chr9:71669295-71669316 chr9:71669293-71669311 chr9:71669296-71669305 chr9:71669294-71669310 chr9:71669298-71669308 chr9:71669296-71669309
35	CTCF	chr9:71669180-71669330	GM12871	blood:	n/a	chr9:71669295-71669316 chr9:71669293-71669311 chr9:71669296-71669305 chr9:71669294-71669310 chr9:71669298-71669308 chr9:71669296-71669309
36	CTCF	chr9:71669513-71669557	GM13977	blood:	n/a	n/a
37	CTCF	chr9:71669115-71669529	MCF-7	breast:	n/a	chr9:71669295-71669316 chr9:71669293-71669311 chr9:71669296-71669305 chr9:71669294-71669310 chr9:71669298-71669308 chr9:71669296-71669309
38	CTCF	chr9:71669158-71669426	T-47D	breast:	n/a	chr9:71669295-71669316 chr9:71669293-71669311 chr9:71669296-71669305 chr9:71669294-71669310 chr9:71669298-71669308 chr9:71669296-71669309
39	CTCF	chr9:71669240-71669390	AG04450	lung:	n/a	chr9:71669295-71669316 chr9:71669293-71669311 chr9:71669296-71669305 chr9:71669294-71669310 chr9:71669298-71669308 chr9:71669296-71669309
40	CTCF	chr9:71682078-71682127	MCF-7	breast:	n/a	n/a
41	CTCF	chr9:71669200-71669350	BE2_C	brain:	n/a	chr9:71669295-71669316 chr9:71669293-71669311 chr9:71669296-71669305 chr9:71669294-71669310 chr9:71669298-71669308 chr9:71669296-71669309
42	CTCF	chr9:71669220-71669370	MCF-7	breast:	n/a	chr9:71669295-71669316 chr9:71669293-71669311 chr9:71669296-71669305 chr9:71669294-71669310 chr9:71669298-71669308 chr9:71669296-71669309
43	CTCF	chr9:71669260-71669410	HVMF	connective:	n/a	chr9:71669295-71669316 chr9:71669293-71669311 chr9:71669296-71669305 chr9:71669294-71669310 chr9:71669298-71669308 chr9:71669296-71669309
44	CTCF	chr9:71669094-71669454	K562	blood:	n/a	chr9:71669295-71669316 chr9:71669293-71669311 chr9:71669296-71669305 chr9:71669294-71669310 chr9:71669298-71669308 chr9:71669296-71669309
45	CTCF	chr9:71669220-71669370	GM12864	blood:	n/a	chr9:71669295-71669316 chr9:71669293-71669311 chr9:71669296-71669305 chr9:71669294-71669310 chr9:71669298-71669308 chr9:71669296-71669309
46	CTCF	chr9:71669240-71669390	WI-38	lung:	n/a	chr9:71669295-71669316 chr9:71669293-71669311 chr9:71669296-71669305 chr9:71669294-71669310 chr9:71669298-71669308 chr9:71669296-71669309
47	CTCF	chr9:71662440-71662590	AoAF	blood vessel:	n/a	n/a
48	CTCF	chr9:71669200-71669350	GM12868	blood:	n/a	chr9:71669295-71669316 chr9:71669293-71669311 chr9:71669296-71669305 chr9:71669294-71669310 chr9:71669298-71669308 chr9:71669296-71669309
49	CTCF	chr9:71704575-71704711	MCF-7	breast:	n/a	n/a
50	CTCF	chr9:71681984-71682232	H1-hESC	embryonic stem cell:	n/a	chr9:71682032-71682045 chr9:71682124-71682133

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:71682105-71682155	HIPEpiC	eye:	n/a
2	chr9:71669714-71669764	HRE	kidney:	n/a
3	chr9:71682105-71682155	HIPEpiC	eye:	n/a
4	chr9:71669714-71669764	HRE	kidney:	n/a
5	chr9:71685390-71685440	MCF10A-Er-Src	breast:	n/a
6	chr9:71661107-71661157	HPAEpiC	pulmonary alveolar:	n/a
7	chr9:71682105-71682155	SKMC	muscle:	n/a
8	chr9:71682105-71682155	HNPCEpiC	eye:	n/a
9	chr9:71713728-71713778	HMEC	breast:	n/a
10	chr9:71691305-71691355	HCM	heart:	n/a
11	chr9:71661107-71661157	HRCEpiC	kidney:	n/a
12	chr9:71691305-71691355	Jurkat	blood:	n/a
13	chr9:71661107-71661157	A549	lung:	n/a
14	chr9:71685390-71685440	ECC-1	luminal epithelium:	n/a
15	chr9:71661107-71661157	Caco-2	colon:	n/a
16	chr9:71683936-71683986	HCM	heart:	n/a
17	chr9:71669714-71669764	MCF10A-Er-Src	breast:	n/a
18	chr9:71661107-71661157	AG09319	gingival:	n/a
19	chr9:71682105-71682155	ProgFib	skin:	n/a
20	chr9:71683936-71683986	PFSK-1	brain:	n/a
21	chr9:71669714-71669764	AG09319	gingival:	n/a
22	chr9:71685390-71685440	SK-N-SH	brain:	n/a
23	chr9:71682105-71682155	SK-N-SH	brain:	n/a
24	chr9:71682105-71682155	ovcar-3	ovarian:	n/a
25	chr9:71691305-71691355	SAEC	small airway:	n/a
26	chr9:71661107-71661157	SAEC	small airway:	n/a
27	chr9:71685390-71685440	LNCaP	prostate:	n/a
28	chr9:71682105-71682155	HepG2	liver:	n/a
29	chr9:71685390-71685440	NH-A	brain:	n/a
30	chr9:71713728-71713778	ProgFib	skin:	n/a
31	chr9:71691305-71691355	NHDF-neo	bronchial:	n/a
32	chr9:71669714-71669764	HRPEpiC	eye:	n/a
33	chr9:71669714-71669764	BJ	skin:	n/a
34	chr9:71683936-71683986	RPTEC	kidney:	n/a
35	chr9:71713728-71713778	GM19239	blood:	n/a
36	chr9:71682105-71682155	GM06990	blood:	n/a
37	chr9:71661107-71661157	NHDF-neo	bronchial:	n/a
38	chr9:71713728-71713778	K562	blood:	n/a
39	chr9:71713728-71713778	NT2-D1	testis:	n/a
40	chr9:71685390-71685440	H1-hESC	embryonic stem cell:	embryo
41	chr9:71685390-71685440	HL-60	blood:	n/a
42	chr9:71713728-71713778	U87	brain:	n/a
43	chr9:71661107-71661157	HepG2	liver:	n/a
44	chr9:71691305-71691355	AG09319	gingival:	n/a
45	chr9:71683936-71683986	SK-N-SH	brain:	n/a
46	chr9:71713728-71713778	HAEpiC	amniotic membrane:	n/a
47	chr9:71669714-71669764	K562	blood:	n/a
48	chr9:71682105-71682155	BJ	skin:	n/a
49	chr9:71685390-71685440	AG04449	skin:	fetal
50	chr9:71669714-71669764	IMR90	lung:	fetal

No.	Distal block	Cell Line	Cell type
1	chr9:71672508..71675484-chr9:71734022..71736530,5	MCF-7	breast:
2	chr9:71674276..71676864-chr9:71678272..71680734,2	MCF-7	breast:
3	chr9:71661053..71663941-chr9:71667266..71670111,2	K562	blood:
4	chr9:71680760..71683108-chr9:71693749..71695954,2	K562	blood:
5	chr9:71671960..71674521-chr9:71677007..71679466,3	K562	blood:
6	chr9:71697839..71699569-chr9:71700381..71702891,2	K562	blood:
7	chr9:71686014..71689293-chr9:71805643..71807349,3	K562	blood:
8	chr9:71699452..71701501-chr9:71735733..71737488,2	MCF-7	breast:
9	chr9:71668853..71671288-chr9:71790657..71793201,2	MCF-7	breast:
10	chr9:71704381..71705131-chr9:71714234..71715231,2	MCF-7	breast:
11	chr9:71679693..71682902-chr9:71734771..71738030,3	MCF-7	breast:
12	chr9:71696609..71699452-chr9:71736834..71738699,2	MCF-7	breast:
13	chr9:71666774..71669833-chr9:71734752..71737934,3	MCF-7	breast:
14	chr9:71699941..71701534-chr9:71703830..71705802,2	MCF-7	breast:
15	chr9:71699941..71701534-chr9:71703830..71705802,2	MCF-7	breast:
16	chr9:71681954..71683717-chr9:71735663..71737181,2	MCF-7	breast:
17	chr9:71704193..71706680-chr9:71707400..71709954,2	K562	blood:
18	chr9:71648859..71652807-chr9:71663115..71665569,4	MCF-7	breast:
19	chr9:71688887..71691252-chr9:71735697..71737532,2	MCF-7	breast:
20	chr9:71674276..71676864-chr9:71678272..71680734,2	MCF-7	breast:
21	chr9:71680760..71683108-chr9:71693749..71695954,2	K562	blood:
22	chr9:71651712..71654573-chr9:71656499..71659593,3	K562	blood:
23	chr9:71671960..71674521-chr9:71677007..71679466,3	K562	blood:
24	chr9:71704381..71705131-chr9:71714234..71715231,2	MCF-7	breast:
25	chr9:71658862..71661009-chr9:71818957..71821038,2	K562	blood:
26	chr9:71718282..71721853-chr9:71734600..71737822,4	MCF-7	breast:
27	chr9:71697839..71699569-chr9:71700381..71702891,2	K562	blood:
28	chr9:71671307..71672957-chr9:71675793..71678189,2	MCF-7	breast:
29	chr9:71668686..71669450-chr9:71838137..71838734,2	MCF-7	breast:
30	chr9:71649461..71652506-chr9:71658685..71662535,4	MCF-7	breast:
31	chr9:71680609..71683537-chr9:71732525..71735089,2	MCF-7	breast:
32	chr9:71655862..71658846-chr9:71661896..71664645,2	MCF-7	breast:
33	chr9:71704193..71706680-chr9:71707400..71709954,2	K562	blood:
34	chr9:71671307..71672957-chr9:71675793..71678189,2	MCF-7	breast:
35	chr9:71700139..71702820-chr9:71819428..71821529,2	MCF-7	breast:
36	chr9:71668771..71670774-chr9:71790512..71793503,2	MCF-7	breast:
37	chr9:71704008..71706268-chr9:71714594..71717470,2	MCF-7	breast:
38	chr9:71659255..71662171-chr9:71666375..71668806,2	K562	blood:
39	chr9:71704008..71706268-chr9:71714594..71717470,2	MCF-7	breast:

Variant related genes	Relation type
FXN	TF binding region
FXN	CpG island
ENSG00000119139	chromatin interactions
ENSG00000165060	chromatin interactions

Extended variants
information (count: 2455 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:2455 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3793451	chr9:71659280-71659281	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs528270465	chr9:71659436-71659437	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs35073650	chr9:71659515-71659516	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs547929936	chr9:71659516-71659517	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs570147887	chr9:71659520-71659521	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs530122515	chr9:71659521-71659522	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs548650662	chr9:71659527-71659528	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs569941506	chr9:71659569-71659570	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs112577409	chr9:71659571-71659572	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs558965282	chr9:71659572-71659573	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs571046722	chr9:71659583-71659584	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs112228910	chr9:71659600-71659601	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs539029744	chr9:71659604-71659605	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs3793452	chr9:71659610-71659611	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs3793453	chr9:71659620-71659621	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs574145979	chr9:71659621-71659622	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs541520785	chr9:71659712-71659713	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs139253638	chr9:71659771-71659772	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs575113738	chr9:71659786-71659787	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs193239271	chr9:71659830-71659831	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs564195355	chr9:71659902-71659903	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs371117763	chr9:71660030-71660031	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs35365106	chr9:71660031-71660032	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs540385883	chr9:71660039-71660040	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs532025093	chr9:71660052-71660053	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs115362625	chr9:71660085-71660086	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs61290674	chr9:71660109-71660110	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs185666018	chr9:71660124-71660125	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs141801463	chr9:71660142-71660143	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs35651138	chr9:71660158-71660159	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs72538837	chr9:71660164-71660165	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs11420008	chr9:71660165-71660166	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs199795784	chr9:71660166-71660167	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs554690587	chr9:71660191-71660192	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs530784319	chr9:71660228-71660229	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs2498425	chr9:71660233-71660234	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs570768659	chr9:71660302-71660303	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs535649816	chr9:71660372-71660373	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs150449980	chr9:71660377-71660378	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs76470259	chr9:71660380-71660381	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs535206010	chr9:71660389-71660390	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs556755578	chr9:71660401-71660402	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs575214353	chr9:71660417-71660418	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs192132322	chr9:71660433-71660434	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs386734756	chr9:71660463-71660464	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs149474553	chr9:71660464-71660465	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs2498426	chr9:71660465-71660466	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs183811537	chr9:71660516-71660517	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs55962582	chr9:71660527-71660528	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs2498427	chr9:71660538-71660539	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Breast cancer	17133270	CNVD
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
Melanoma	22183965	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
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	17899364	CNVD
Mantle cell lymphoma	19029149	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	20729466	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Oral cancer	21386901	CNVD
Epilepsy	22083797	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:1582 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71651400-71663800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr9:71651600-71661800	Weak transcription	Fetal Brain Female	brain
3	chr9:71651800-71659400	Weak transcription	Gastric	stomach
4	chr9:71651800-71661400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr9:71651800-71661600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr9:71651800-71680600	Weak transcription	HSMMtube	muscle
7	chr9:71652000-71659400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr9:71652000-71659400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr9:71652000-71659400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr9:71652000-71659400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr9:71652000-71659400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr9:71652000-71659400	Weak transcription	Fetal Muscle Leg	muscle
13	chr9:71652000-71659400	Weak transcription	Lung	lung
14	chr9:71652000-71659400	Weak transcription	Right Ventricle	heart
15	chr9:71652000-71659400	Weak transcription	Hela-S3	cervix
16	chr9:71652000-71659600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr9:71652000-71659600	Weak transcription	Primary hematopoietic stem cells	blood
18	chr9:71652000-71659600	Weak transcription	GM12878-XiMat	blood
19	chr9:71652000-71659600	Weak transcription	NH-A	brain
20	chr9:71652000-71660600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr9:71652000-71661000	Weak transcription	HSMM	muscle
22	chr9:71652000-71661400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr9:71652000-71661400	Weak transcription	Esophagus	oesophagus
24	chr9:71652000-71661600	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr9:71652000-71661600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr9:71652000-71661600	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr9:71652000-71661600	Weak transcription	Fetal Intestine Large	intestine
28	chr9:71652000-71661800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr9:71652000-71661800	Weak transcription	Brain Anterior Caudate	brain
30	chr9:71652000-71661800	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr9:71652000-71661800	Weak transcription	Rectal Smooth Muscle	rectum
32	chr9:71652000-71661800	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr9:71652000-71661800	Weak transcription	NHEK	skin
34	chr9:71652000-71662000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr9:71652000-71663000	Weak transcription	Dnd41	blood
36	chr9:71652000-71663600	Weak transcription	Brain Substantia Nigra	brain
37	chr9:71652000-71663600	Weak transcription	A549	lung
38	chr9:71652000-71664000	Weak transcription	HMEC	breast
39	chr9:71652000-71672800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr9:71652000-71680600	Weak transcription	Brain Angular Gyrus	brain
41	chr9:71652000-71680800	Weak transcription	Primary B cells from cord blood	blood
42	chr9:71652200-71659400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr9:71652200-71659400	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr9:71652200-71659400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr9:71652200-71661200	Weak transcription	Fetal Muscle Trunk	muscle
46	chr9:71652200-71661800	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr9:71652600-71661400	Weak transcription	Stomach Smooth Muscle	stomach
48	chr9:71653000-71659400	Weak transcription	Spleen	Spleen
49	chr9:71653200-71659600	Weak transcription	Fetal Intestine Small	intestine
50	chr9:71653400-71659400	Weak transcription	Primary T helper cells fromperipheralblood	blood

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