Variant report

Variant	nsv471267
Chromosome Location	chr9:237988-500979
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2520)
CpG islands
(count:430)
Chromatin interactive
region (count:153)
LncRNA
region (count:66)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2520 , 50 per page) page: 1 2 3 4 5 6 7 ... 51

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:250210-251866	K562	blood:	n/a	n/a
2	ARID3A	chr9:463883-464115	HepG2	liver:	n/a	n/a
3	ARID3A	chr9:260270-260544	K562	blood:	n/a	n/a
4	ARID3A	chr9:336046-336405	HepG2	liver:	n/a	n/a
5	ARID3A	chr9:267916-268404	K562	blood:	n/a	n/a
6	ARID3A	chr9:495829-496174	HepG2	liver:	n/a	n/a
7	ARID3A	chr9:371491-371553	K562	blood:	n/a	n/a
8	ARID3A	chr9:238911-239096	K562	blood:	n/a	n/a
9	ARID3A	chr9:272095-272522	K562	blood:	n/a	n/a
10	ARID3A	chr9:237608-238477	K562	blood:	n/a	n/a
11	ARID3A	chr9:489187-489524	HepG2	liver:	n/a	n/a
12	ARID3A	chr9:272758-273406	K562	blood:	n/a	chr9:273064-273079
13	ATF1	chr9:249153-249485	K562	blood:	n/a	n/a
14	ATF1	chr9:491995-492195	K562	blood:	n/a	n/a
15	ATF1	chr9:272781-273161	K562	blood:	n/a	n/a
16	ATF1	chr9:428430-428702	K562	blood:	n/a	n/a
17	ATF1	chr9:272150-272512	K562	blood:	n/a	n/a
18	ATF1	chr9:270753-271026	K562	blood:	n/a	n/a
19	ATF1	chr9:312958-313372	K562	blood:	n/a	n/a
20	ATF2	chr9:272650-273286	GM12878	blood:	n/a	n/a
21	ATF2	chr9:272677-273240	GM12878	blood:	n/a	n/a
22	ATF2	chr9:297286-297859	GM12878	blood:	n/a	n/a
23	ATF3	chr9:326568-327022	H1-hESC	embryonic stem cell:	n/a	n/a
24	ATF3	chr9:272081-272576	K562	blood:	n/a	n/a
25	BACH1	chr9:450112-450344	H1-hESC	embryonic stem cell:	n/a	n/a
26	BACH1	chr9:470546-470746	H1-hESC	embryonic stem cell:	n/a	n/a
27	BATF	chr9:297422-297902	GM12878	blood:	n/a	chr9:297684-297695 chr9:297685-297695
28	BATF	chr9:278668-278987	GM12878	blood:	n/a	n/a
29	BATF	chr9:297420-297885	GM12878	blood:	n/a	chr9:297684-297695 chr9:297685-297695
30	BCL11A	chr9:331212-331567	H1-hESC	embryonic stem cell:	n/a	n/a
31	BCL3	chr9:463755-464226	A549	lung:	n/a	n/a
32	BCL3	chr9:470157-470838	A549	lung:	n/a	n/a
33	BCL3	chr9:489067-489648	A549	lung:	n/a	n/a
34	BCL3	chr9:469817-470210	A549	lung:	n/a	chr9:470121-470130
35	BCLAF1	chr9:469741-470596	GM12878	blood:	n/a	chr9:470121-470130
36	BCLAF1	chr9:297419-297950	GM12878	blood:	n/a	chr9:297687-297696 chr9:297688-297697
37	BCLAF1	chr9:307023-307293	GM12878	blood:	n/a	n/a
38	BCLAF1	chr9:272658-273387	GM12878	blood:	n/a	chr9:272862-272871
39	BCLAF1	chr9:272677-273191	GM12878	blood:	n/a	chr9:272862-272871
40	BCLAF1	chr9:297343-297922	GM12878	blood:	n/a	chr9:297687-297696 chr9:297688-297697
41	BHLHE40	chr9:259627-260475	K562	blood:	n/a	n/a
42	BHLHE40	chr9:297517-297717	K562	blood:	n/a	n/a
43	BHLHE40	chr9:470231-470621	K562	blood:	n/a	n/a
44	BHLHE40	chr9:272179-272510	K562	blood:	n/a	n/a
45	BHLHE40	chr9:237901-238275	K562	blood:	n/a	chr9:238023-238044
46	BHLHE40	chr9:439327-439591	HepG2	liver:	n/a	n/a
47	BHLHE40	chr9:463654-464244	HepG2	liver:	n/a	n/a
48	BHLHE40	chr9:469953-470590	GM12878	blood:	n/a	chr9:470115-470131
49	BHLHE40	chr9:270725-270976	GM12878	blood:	n/a	n/a
50	BHLHE40	chr9:470898-470911	GM12878	blood:	n/a	n/a

(count:430 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:471920-471970	HNPCEpiC	eye:	n/a
2	chr9:471920-471970	U87	brain:	n/a
3	chr9:472966-473016	NH-A	brain:	n/a
4	chr9:471920-471970	HNPCEpiC	eye:	n/a
5	chr9:471920-471970	U87	brain:	n/a
6	chr9:472966-473016	NH-A	brain:	n/a
7	chr9:470109-470159	MCF-7	breast:	n/a
8	chr9:469777-469827	BJ	skin:	n/a
9	chr9:472966-473016	NB4	blood:	n/a
10	chr9:470323-470373	HIPEpiC	eye:	n/a
11	chr9:471920-471970	AoSMC	blood vessel:	n/a
12	chr9:469777-469827	AoSMC	blood vessel:	n/a
13	chr9:472966-473016	HCPEpiC	choroid plexus:	n/a
14	chr9:470109-470159	HL-60	blood:	n/a
15	chr9:426894-426944	HCM	heart:	n/a
16	chr9:471920-471970	HAEpiC	amniotic membrane:	n/a
17	chr9:273072-273122	HRCEpiC	kidney:	n/a
18	chr9:469777-469827	SKMC	muscle:	n/a
19	chr9:470109-470159	CMK	blood:	n/a
20	chr9:470323-470373	NB4	blood:	n/a
21	chr9:470323-470373	HRPEpiC	eye:	n/a
22	chr9:426894-426944	Hepatocyte	liver:	n/a
23	chr9:470109-470159	NB4	blood:	n/a
24	chr9:471920-471970	SK-N-MC	brain:	n/a
25	chr9:472966-473016	SAEC	small airway:	n/a
26	chr9:470323-470373	GM12892	blood:	n/a
27	chr9:470323-470373	U87	brain:	n/a
28	chr9:470109-470159	AG04449	skin:	fetal
29	chr9:469777-469827	AG09319	gingival:	n/a
30	chr9:426894-426944	AG09319	gingival:	n/a
31	chr9:471920-471970	MCF10A-Er-Src	breast:	n/a
32	chr9:472966-473016	GM19239	blood:	n/a
33	chr9:426894-426944	GM12891	blood:	n/a
34	chr9:470323-470373	HEEpiC	esophagus:	n/a
35	chr9:469777-469827	MCF10A-Er-Src	breast:	n/a
36	chr9:469777-469827	HIPEpiC	eye:	n/a
37	chr9:472966-473016	HRE	kidney:	n/a
38	chr9:469777-469827	HCT-116	colon:	n/a
39	chr9:472966-473016	HNPCEpiC	eye:	n/a
40	chr9:470109-470159	HNPCEpiC	eye:	n/a
41	chr9:470323-470373	NT2-D1	testis:	n/a
42	chr9:469777-469827	HCF	heart:	n/a
43	chr9:472966-473016	ovcar-3	ovarian:	n/a
44	chr9:472966-473016	NT2-D1	testis:	n/a
45	chr9:469777-469827	ECC-1	luminal epithelium:	n/a
46	chr9:273072-273122	HRPEpiC	eye:	n/a
47	chr9:470109-470159	PrEC	prostate:	n/a
48	chr9:273072-273122	BJ	skin:	n/a
49	chr9:472966-473016	RPTEC	kidney:	n/a
50	chr9:472966-473016	AG04450	lung:	fetal

(count:153 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr9:244363..245872-chr9:248878..250809,2	K562	blood:
2	chr9:459270..461586-chr9:468346..470515,2	MCF-7	breast:
3	chr9:247322..249745-chr9:277912..279940,2	K562	blood:
4	chr9:286841..289218-chr9:291668..294143,2	K562	blood:
5	chr9:214996..215595-chr9:307020..307600,2	MCF-7	breast:
6	chr1:43147839..43148507-chr9:470046..470650,2	NB4	blood:
7	chr9:457391..459101-chr9:460366..462265,2	MCF-7	breast:
8	chr9:324085..328451-chr9:329787..332698,3	K562	blood:
9	chr9:441366..444017-chr9:451304..454209,2	MCF-7	breast:
10	chr9:288330..291260-chr9:302503..304653,3	K562	blood:
11	chr1:23494875..23495400-chr9:469098..469749,2	NB4	blood:
12	chr9:240408..242135-chr9:247395..249007,2	MCF-7	breast:
13	chr9:490701..492635-chr9:494682..497058,2	K562	blood:
14	chr9:264854..268401-chr9:271602..276392,5	K562	blood:
15	chr9:213518..215162-chr9:305580..308186,2	K562	blood:
16	chr9:277861..283096-chr9:291676..296273,5	K562	blood:
17	chr9:385566..386417-chr9:764222..764740,2	MCF-7	breast:
18	chr9:213587..215367-chr9:247326..250011,2	MCF-7	breast:
19	chr9:243324..246093-chr9:246428..250809,6	K562	blood:
20	chr9:316274..318543-chr9:331270..334145,2	MCF-7	breast:
21	chr9:316274..318543-chr9:331270..334145,2	MCF-7	breast:
22	chr9:223853..225771-chr9:261619..263535,2	K562	blood:
23	chr9:276314..278461-chr9:285139..287718,2	K562	blood:
24	chr9:258428..261727-chr9:265742..268870,3	K562	blood:
25	chr9:324085..328451-chr9:329787..332698,3	K562	blood:
26	chr9:246962..249799-chr9:250077..252857,2	K562	blood:
27	chr9:387700..389795-chr9:395557..397565,2	MCF-7	breast:
28	chr9:261493..264345-chr9:269680..272564,2	MCF-7	breast:
29	chr9:212468..215901-chr9:260350..263868,4	K562	blood:
30	chr9:396487..398165-chr9:401103..402938,2	K562	blood:
31	chr9:441366..444017-chr9:451304..454209,2	MCF-7	breast:
32	chr9:438728..443718-chr9:444221..448963,4	K562	blood:
33	chr10:74033442..74034170-chr9:469881..470831,2	NB4	blood:
34	chr9:396487..398165-chr9:401103..402938,2	K562	blood:
35	chr9:235818..237375-chr9:247234..248835,2	K562	blood:
36	chr9:347287..349476-chr9:362112..363970,2	MCF-7	breast:
37	chr9:350965..353575-chr9:397923..399924,2	K562	blood:
38	chr9:500269..502662-chr9:502681..505040,2	MCF-7	breast:
39	chr9:265556..268525-chr9:268878..270498,2	K562	blood:
40	chr9:223210..226112-chr9:277917..282090,3	K562	blood:
41	chr9:326951..329483-chr9:330404..332162,2	K562	blood:
42	chr9:494848..496689-chr9:501659..504144,2	MCF-7	breast:
43	chr9:462619..465055-chr9:466811..469681,2	K562	blood:
44	chr9:237820..240828-chr9:247584..251042,3	K562	blood:
45	chr9:284961..287002-chr9:306876..309185,2	K562	blood:
46	chr9:239328..240900-chr9:247584..249872,2	K562	blood:
47	chr9:454476..456616-chr9:461041..463916,2	MCF-7	breast:
48	chr9:385789..386423-chr9:612104..612846,2	K562	blood:
49	chr9:277861..283096-chr9:291676..296273,5	K562	blood:
50	chr9:283346..286966-chr9:287946..290894,7	K562	blood:

(count:66 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C9orf66-2	chr9:456545-456703	ENSG00000227155.3
2	lnc-C9orf66-2	chr9:456201-456988	ENSG00000227155.3
3	lnc-C9orf66-2	chr9:456915-457047	ENSG00000227155.3
4	lnc-C9orf66-2	chr9:466688-467219	ENSG00000227155.3
5	lnc-C9orf66-2	chr9:454457-454606	ENSG00000227155.3
6	lnc-C9orf66-2	chr9:454304-454606	ENSG00000227155.3
7	lnc-DOCK8-5	chr9:471467-471586	NONHSAT129927
8	lnc-C9orf66-2	chr9:469722-469802	ENSG00000227155.3
9	lnc-C9orf66-2	chr9:459716-459815	ENSG00000227155.3
10	lnc-C9orf66-2	chr9:456201-456703	ENSG00000227155.3
11	lnc-DOCK8-5	chr9:476628-476769	NONHSAT129927
12	lnc-C9orf66-2	chr9:456204-456703	ENSG00000227155.3
13	lnc-DOCK8-5	chr9:470592-470677	NONHSAT129926
14	lnc-C9orf66-2	chr9:465962-466065	ENSG00000227155.3
15	lnc-C9orf66-2	chr9:456201-456703	ENSG00000227155.3
16	lnc-C9orf66-2	chr9:456201-456703	ENSG00000227155.3
17	lnc-C9orf66-2	chr9:470765-470961	ENSG00000227155.3
18	lnc-C9orf66-2	chr9:454447-454606	ENSG00000227155.3
19	lnc-C9orf66-2	chr9:457004-457047	ENSG00000227155.3
20	lnc-C9orf66-2	chr9:465962-466069	ENSG00000227155.3
21	lnc-C9orf66-2	chr9:459716-460507	ENSG00000227155.3
22	lnc-C9orf66-2	chr9:466900-467336	ENSG00000227155.3
23	lnc-C9orf66-2	chr9:456518-456703	ENSG00000227155.3
24	lnc-C9orf66-2	chr9:456201-456703	ENSG00000227155.3
25	lnc-C9orf66-1	chr9:267966-268273	ENSG00000235880.1
26	lnc-C9orf66-2	chr9:465962-466069	ENSG00000227155.3
27	lnc-C9orf66-2	chr9:488957-489066	ENSG00000227155.3
28	lnc-C9orf66-2	chr9:465962-466069	ENSG00000227155.3
29	lnc-C9orf66-2	chr9:459716-459866	ENSG00000227155.3
30	lnc-DOCK8-1	chr9:495238-495610	ENSG00000228115.1
31	lnc-C9orf66-2	chr9:456915-457047	ENSG00000227155.3
32	lnc-C9orf66-2	chr9:459716-459866	ENSG00000227155.3
33	lnc-C9orf66-2	chr9:469722-469836	ENSG00000227155.3
34	lnc-C9orf66-2	chr9:459716-459866	ENSG00000227155.3
35	lnc-DOCK8-5	chr9:484282-484491	NONHSAT129926
36	lnc-C9orf66-2	chr9:459716-460227	ENSG00000227155.3
37	lnc-C9orf66-2	chr9:456915-457047	ENSG00000227155.3
38	lnc-DOCK8-5	chr9:473194-473273	NONHSAT129927
39	lnc-C9orf66-2	chr9:454576-454606	ENSG00000227155.3
40	lnc-DOCK8-5	chr9:471449-471586	NONHSAT129926
41	lnc-C9orf66-2	chr9:456211-456703	ENSG00000227155.3
42	lnc-DOCK8-5	chr9:473194-473273	NONHSAT129926
43	lnc-C9orf66-2	chr9:456201-456358	ENSG00000227155.1
44	lnc-DOCK8-1	chr9:487774-487803	ENSG00000228115.1
45	lnc-C9orf66-2	chr9:466688-467390	ENSG00000227155.3
46	lnc-C9orf66-2	chr9:458117-458281	ENSG00000227155.3
47	lnc-C9orf66-2	chr9:456521-456703	ENSG00000227155.3
48	lnc-C9orf66-2	chr9:458370-458423	ENSG00000227155.3
49	lnc-C9orf66-2	chr9:492084-492112	ENSG00000227155.3
50	lnc-C9orf66-2	chr9:456530-456703	ENSG00000227155.3

No data

Variant related genes	Relation type
DOCK8	TF binding region
ENSG00000235880	TF binding region
ENSG00000228115	TF binding region
ENSG00000227155	TF binding region
KANK1	TF binding region
ENSG00000235330	TF binding region
DOCK8	CpG island
ENSG00000235880	CpG island
ENSG00000228115	CpG island
ENSG00000227155	CpG island
KANK1	CpG island
ENSG00000235330	CpG island
ENSG00000169641	chromatin interactions
ENSG00000227155	chromatin interactions
ENSG00000107104	chromatin interactions
ENSG00000065978	chromatin interactions
ENSG00000107099	chromatin interactions
ENSG00000074603	chromatin interactions
ENSG00000235330	chromatin interactions
ENSG00000226403	chromatin interactions
ENSG00000235880	chromatin interactions
ENSG00000183784	chromatin interactions
ENSG00000168209	chromatin interactions

Extended variants
information (count: 14325 )
Associated
traits (count: 121 )

Variant overlapped rSNPs/rCNVs (count:14325 , 50 per page) page: 1 2 3 4 5 6 7 ... 287

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7858717	chr9:237988-237989	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs550676754	chr9:237989-237990	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs562436869	chr9:237996-237997	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs116133716	chr9:238022-238023	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs371400013	chr9:238059-238060	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs551408307	chr9:238066-238067	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs547328054	chr9:238069-238070	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs111688946	chr9:238094-238095	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs375866097	chr9:238102-238103	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs533252050	chr9:238122-238123	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs367940074	chr9:238135-238136	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs547281676	chr9:238168-238169	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs568673922	chr9:238190-238191	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs140632671	chr9:238196-238197	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs549946533	chr9:238223-238224	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570039606	chr9:238247-238248	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs529224525	chr9:238258-238259	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs557476953	chr9:238285-238286	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs184394848	chr9:238296-238297	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs539501376	chr9:238301-238302	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs10117655	chr9:238370-238371	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs549476596	chr9:238374-238375	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs552848	chr9:238389-238390	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs569621697	chr9:238399-238400	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs561625684	chr9:238401-238402	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs375108218	chr9:238413-238414	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs573823422	chr9:238430-238431	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs538753005	chr9:238460-238461	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs544065145	chr9:238476-238477	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs112201140	chr9:238485-238486	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs532892194	chr9:238501-238502	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs545098155	chr9:238517-238518	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs189074726	chr9:238547-238548	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs527263958	chr9:238578-238579	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs547346061	chr9:238696-238697	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs568656275	chr9:238703-238704	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs529532460	chr9:238712-238713	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs535269614	chr9:238716-238717	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs369470573	chr9:238794-238795	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs75141615	chr9:238825-238826	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs569406014	chr9:238837-238838	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs558364220	chr9:238849-238850	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs539559844	chr9:238853-238854	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs373233950	chr9:238861-238862	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs557814472	chr9:238880-238881	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs181464631	chr9:238884-238885	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs533927974	chr9:238890-238891	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs555671166	chr9:238925-238926	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs573860042	chr9:238931-238932	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs10120270	chr9:238951-238952	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:121)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	20164920	CNVD
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
Lynch syndrome	18415027	CNVD
Retinoblastoma	21504564	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	22286061	CNVD
Williams-beuren syndrome	18553513	CNVD
Disorders of sex development	21048976	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
prenatal diagnosis	20453657	CNVD
Gastric cancer	16715143	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Intracranial aneurysm	16715129	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Disorders of sex development	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Sudden cardiac death	19188705	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21952639	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
abnormal development	18461090	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Autism	22495311	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Schizophrenia	20967226	CNVD
Lung cancer	18438408	CNVD
Autism	20531469	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Developmental delay	20808231	CNVD
Obesity	20808231	CNVD
Myelodysplastic syndrome	21251322	CNVD
Primary immunodeficiency	22942019	CNVD
Melanoma	20877625	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Breast cancer	21364760	CNVD
Bipolar disorder	19114987	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
early-passage human iPS cells	21368824	CNVD
Renal cell carcinoma	21215367	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:3622 , 50 per page) page: 1 2 3 4 5 6 7 ... 73

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:219000-261400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr9:235800-249200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr9:236400-239200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
4	chr9:236400-239400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr9:237000-238200	Genic enhancers	Monocytes-CD14+_RO01746	blood
6	chr9:237000-238600	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr9:237000-238600	Enhancers	Dnd41	blood
8	chr9:237000-239000	Enhancers	Primary T cells fromperipheralblood	blood
9	chr9:237000-239000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr9:237000-239000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr9:237200-238000	Enhancers	K562	blood
12	chr9:237200-238200	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr9:237200-238400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr9:237200-238400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
15	chr9:237200-238400	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr9:237200-238400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr9:237200-238600	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr9:237200-238600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr9:237200-238800	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr9:237200-239000	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr9:237200-248800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr9:237200-251200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr9:237200-257400	Weak transcription	Primary B cells from cord blood	blood
24	chr9:237400-248200	Weak transcription	Primary B cells from peripheral blood	blood
25	chr9:237600-238200	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr9:237800-238200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr9:238000-238600	Flanking Active TSS	K562	blood
28	chr9:238000-239200	Enhancers	Small Intestine	intestine
29	chr9:238200-238600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr9:238200-242200	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr9:238200-244800	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr9:238400-248800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr9:238600-239600	Enhancers	K562	blood
34	chr9:238600-249000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr9:238800-244600	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr9:239000-248800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr9:242200-242800	Genic enhancers	Primary neutrophils fromperipheralblood	blood
38	chr9:242600-243600	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr9:242800-243400	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr9:243400-245200	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr9:243600-248600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr9:244600-245200	Genic enhancers	Primary monocytes fromperipheralblood	blood
43	chr9:244800-245000	Genic enhancers	Monocytes-CD14+_RO01746	blood
44	chr9:245000-248000	Weak transcription	Spleen	Spleen
45	chr9:245000-248200	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr9:245200-246000	Enhancers	Primary neutrophils fromperipheralblood	blood
47	chr9:245200-248000	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr9:245600-245800	Enhancers	Adipose Nuclei	Adipose
49	chr9:246000-247200	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr9:247200-247400	Enhancers	Primary neutrophils fromperipheralblood	blood

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