Variant report

Variant	nsv1029985
Chromosome Location	chr9:459016-813600
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4787)
CpG islands
(count:1099)
Chromatin interactive
region (count:137)
LncRNA
region (count:64)
Mature miRNA
region (count: 0)
miRNA target
sites (count:5)

(count:4787 , 50 per page) page: 1 2 3 4 5 6 7 ... 96

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:463883-464115	HepG2	liver:	n/a	n/a
2	ARID3A	chr9:613790-614724	HepG2	liver:	n/a	n/a
3	ARID3A	chr9:495829-496174	HepG2	liver:	n/a	n/a
4	ARID3A	chr9:716213-716255	HepG2	liver:	n/a	n/a
5	ARID3A	chr9:755679-756377	HepG2	liver:	n/a	n/a
6	ARID3A	chr9:734845-735045	HepG2	liver:	n/a	n/a
7	ARID3A	chr9:726050-726236	HepG2	liver:	n/a	n/a
8	ARID3A	chr9:764021-764430	HepG2	liver:	n/a	n/a
9	ARID3A	chr9:744770-744894	HepG2	liver:	n/a	n/a
10	ARID3A	chr9:710020-710338	HepG2	liver:	n/a	n/a
11	ARID3A	chr9:792615-792973	HepG2	liver:	n/a	n/a
12	ARID3A	chr9:672953-673149	HepG2	liver:	n/a	n/a
13	ARID3A	chr9:504390-504746	K562	blood:	n/a	n/a
14	ARID3A	chr9:706038-706477	HepG2	liver:	n/a	n/a
15	ARID3A	chr9:676651-678350	HepG2	liver:	n/a	n/a
16	ARID3A	chr9:592251-592433	HepG2	liver:	n/a	n/a
17	ARID3A	chr9:696723-696891	HepG2	liver:	n/a	n/a
18	ARID3A	chr9:745817-746038	HepG2	liver:	n/a	n/a
19	ARID3A	chr9:682346-683925	HepG2	liver:	n/a	n/a
20	ARID3A	chr9:673768-674544	HepG2	liver:	n/a	n/a
21	ARID3A	chr9:706757-707182	HepG2	liver:	n/a	chr9:706927-706943
22	ARID3A	chr9:685087-685396	HepG2	liver:	n/a	n/a
23	ARID3A	chr9:489187-489524	HepG2	liver:	n/a	n/a
24	ATF1	chr9:491995-492195	K562	blood:	n/a	n/a
25	ATF3	chr9:557723-558324	A549	lung:	n/a	n/a
26	BACH1	chr9:801698-801802	H1-hESC	embryonic stem cell:	n/a	chr9:801716-801730
27	BACH1	chr9:505331-505595	H1-hESC	embryonic stem cell:	n/a	n/a
28	BACH1	chr9:706737-707111	H1-hESC	embryonic stem cell:	n/a	n/a
29	BACH1	chr9:557912-558114	H1-hESC	embryonic stem cell:	n/a	n/a
30	BACH1	chr9:503882-504954	H1-hESC	embryonic stem cell:	n/a	n/a
31	BACH1	chr9:652937-653241	H1-hESC	embryonic stem cell:	n/a	n/a
32	BACH1	chr9:470546-470746	H1-hESC	embryonic stem cell:	n/a	n/a
33	BACH1	chr9:503516-503574	H1-hESC	embryonic stem cell:	n/a	n/a
34	BACH1	chr9:561382-561724	H1-hESC	embryonic stem cell:	n/a	n/a
35	BACH1	chr9:674115-674612	H1-hESC	embryonic stem cell:	n/a	n/a
36	BATF	chr9:800791-801012	GM12878	blood:	n/a	n/a
37	BATF	chr9:755733-756053	GM12878	blood:	n/a	chr9:755945-755954 chr9:755850-755861
38	BATF	chr9:808690-808887	GM12878	blood:	n/a	n/a
39	BATF	chr9:755709-756109	GM12878	blood:	n/a	chr9:755945-755954 chr9:755850-755861
40	BCL11A	chr9:674131-674488	H1-hESC	embryonic stem cell:	n/a	n/a
41	BCL11A	chr9:808677-809119	GM12878	blood:	n/a	n/a
42	BCL11A	chr9:674204-674357	H1-hESC	embryonic stem cell:	n/a	n/a
43	BCL3	chr9:694616-695281	A549	lung:	n/a	n/a
44	BCL3	chr9:489067-489648	A549	lung:	n/a	n/a
45	BCL3	chr9:503842-504488	A549	lung:	n/a	chr9:504175-504184 chr9:504327-504340 chr9:504456-504469
46	BCL3	chr9:469817-470210	A549	lung:	n/a	chr9:470121-470130
47	BCL3	chr9:463755-464226	A549	lung:	n/a	n/a
48	BCL3	chr9:557812-558394	A549	lung:	n/a	n/a
49	BCL3	chr9:561269-561869	A549	lung:	n/a	n/a
50	BCL3	chr9:561341-561682	GM12878	blood:	n/a	n/a

(count:1099 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:505235-505285	AG04450	lung:	fetal
2	chr9:505235-505285	AG04450	lung:	fetal
3	chr9:504774-504824	GM06990	blood:	n/a
4	chr9:504774-504824	Hepatocyte	liver:	n/a
5	chr9:504774-504824	U87	brain:	n/a
6	chr9:470323-470373	HepG2	liver:	n/a
7	chr9:470323-470373	GM12878	blood:	n/a
8	chr9:504774-504824	PrEC	prostate:	n/a
9	chr9:472966-473016	GM12878	blood:	n/a
10	chr9:471920-471970	HEEpiC	esophagus:	n/a
11	chr9:471920-471970	ovcar-3	ovarian:	n/a
12	chr9:469777-469827	HepG2	liver:	n/a
13	chr9:469777-469827	H1-hESC	embryonic stem cell:	embryo
14	chr9:505571-505621	A549	lung:	n/a
15	chr9:507411-507461	GM19239	blood:	n/a
16	chr9:472966-473016	AG09319	gingival:	n/a
17	chr9:714269-714319	LNCaP	prostate:	n/a
18	chr9:505235-505285	GM12878	blood:	n/a
19	chr9:707166-707216	GM12892	blood:	n/a
20	chr9:472966-473016	HRPEpiC	eye:	n/a
21	chr9:470109-470159	A549	lung:	n/a
22	chr9:707387-707437	HEK293	kidney:	embryo
23	chr9:505571-505621	AoSMC	blood vessel:	n/a
24	chr9:503937-503987	HUVEC	blood vessel:	n/a
25	chr9:761482-761532	HCPEpiC	choroid plexus:	n/a
26	chr9:714269-714319	HCT-116	colon:	n/a
27	chr9:761482-761532	MCF-7	breast:	n/a
28	chr9:472966-473016	Hepatocyte	liver:	n/a
29	chr9:469777-469827	HNPCEpiC	eye:	n/a
30	chr9:707166-707216	HIPEpiC	eye:	n/a
31	chr9:469777-469827	Jurkat	blood:	n/a
32	chr9:504774-504824	BJ	skin:	n/a
33	chr9:504774-504824	Caco-2	colon:	n/a
34	chr9:470323-470373	T-47D	breast:	n/a
35	chr9:707166-707216	SKMC	muscle:	n/a
36	chr9:472966-473016	BE2_C	brain:	n/a
37	chr9:471920-471970	MCF-7	breast:	n/a
38	chr9:714269-714319	ovcar-3	ovarian:	n/a
39	chr9:707166-707216	HUVEC	blood vessel:	n/a
40	chr9:574312-574362	AG09309	skin:	n/a
41	chr9:470109-470159	AoSMC	blood vessel:	n/a
42	chr9:761482-761532	SAEC	small airway:	n/a
43	chr9:470323-470373	Hepatocyte	liver:	n/a
44	chr9:705143-705193	HepG2	liver:	n/a
45	chr9:505571-505621	HL-60	blood:	n/a
46	chr9:470323-470373	HCPEpiC	choroid plexus:	n/a
47	chr9:714269-714319	NHBE	bronchial:	n/a
48	chr9:507411-507461	HCF	heart:	n/a
49	chr9:707387-707437	K562	blood:	n/a
50	chr9:470109-470159	HCF	heart:	n/a

(count:137 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr9:468995..471572-chr9:503851..506185,2	MCF-7	breast:
2	chr9:581821..582545-chr9:807512..808214,2	MCF-7	breast:
3	chr9:725965..727738-chr9:729421..731068,2	MCF-7	breast:
4	chr9:710784..713169-chr9:756222..759004,2	MCF-7	breast:
5	chr9:613518..614436-chr9:806263..806822,2	MCF-7	breast:
6	chr9:518740..521510-chr9:531283..533605,2	MCF-7	breast:
7	chr9:613586..614504-chr9:756894..758172,6	MCF-7	breast:
8	chr9:680963..683890-chr9:685859..688092,2	MCF-7	breast:
9	chr9:640721..642302-chr9:644961..647354,2	K562	blood:
10	chr9:707080..708925-chr9:715815..718212,3	MCF-7	breast:
11	chr9:613650..614569-chr9:806256..807252,7	MCF-7	breast:
12	chr1:43147839..43148507-chr9:470046..470650,2	NB4	blood:
13	chr9:581821..582545-chr9:807512..808214,2	MCF-7	breast:
14	chr9:494848..496689-chr9:501659..504144,2	MCF-7	breast:
15	chr9:744945..746598-chr9:748652..750929,2	K562	blood:
16	chr9:490052..492255-chr9:502875..504712,2	MCF-7	breast:
17	chr9:782884..784766-chr9:785783..787661,2	MCF-7	breast:
18	chr9:613026..614583-chr9:763698..764753,25	MCF-7	breast:
19	chr9:495605..498122-chr9:502386..505122,3	MCF-7	breast:
20	chr9:581168..581745-chr9:613579..614471,2	MCF-7	breast:
21	chr9:706377..708156-chr9:805249..808005,2	MCF-7	breast:
22	chr9:719690..721572-chr9:723182..726115,2	MCF-7	breast:
23	chr9:581649..582215-chr9:998516..999103,2	MCF-7	breast:
24	chr9:504296..504898-chr9:21802481..21802992,2	HCT-116	colon:
25	chr9:691921..694076-chr9:697704..699992,2	K562	blood:
26	chr9:730043..732840-chr9:737557..739917,2	MCF-7	breast:
27	chr16:1239384..1239884-chr9:736833..737597,2	MCF-7	breast:
28	chr9:523311..524277-chr9:542856..543632,2	MCF-7	breast:
29	chr9:705245..708353-chr9:743847..747461,3	MCF-7	breast:
30	chr9:613518..614436-chr9:806263..806822,2	MCF-7	breast:
31	chr9:613644..614435-chr9:753933..755128,3	MCF-7	breast:
32	chr9:796752..799581-chr9:806597..809420,2	MCF-7	breast:
33	chr10:74033442..74034170-chr9:469881..470831,2	NB4	blood:
34	chr9:680230..683179-chr9:683361..685450,2	MCF-7	breast:
35	chr9:581769..582694-chr9:763829..764743,4	MCF-7	breast:
36	chr9:763806..764607-chr9:806256..807153,5	MCF-7	breast:
37	chr9:613541..614622-chr9:757205..758240,10	MCF-7	breast:
38	chr9:581438..583645-chr9:586871..590074,4	MCF-7	breast:
39	chr9:469974..471479-chr9:511045..512830,2	K562	blood:
40	chr9:782884..784766-chr9:785783..787661,2	MCF-7	breast:
41	chr9:682966..685572-chr9:709711..712587,2	MCF-7	breast:
42	chr9:535330..537087-chr9:549296..551126,2	K562	blood:
43	chr9:721333..724004-chr9:738366..740594,2	MCF-7	breast:
44	chr9:744945..746598-chr9:748652..750929,2	K562	blood:
45	chr9:613541..614622-chr9:757205..758240,10	MCF-7	breast:
46	chr9:581860..582832-chr9:613640..614518,3	MCF-7	breast:
47	chr9:698899..701683-chr9:703340..705392,2	MCF-7	breast:
48	chr9:487771..490019-chr9:514331..516293,2	MCF-7	breast:
49	chr9:691921..694076-chr9:697704..699992,2	K562	blood:
50	chr9:512039..514160-chr9:515791..519174,3	K562	blood:

(count:64 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C9orf66-2	chr9:465962-466069	ENSG00000227155.3
2	lnc-C9orf66-2	chr9:459716-459815	ENSG00000227155.3
3	lnc-C9orf66-2	chr9:465962-466069	ENSG00000227155.3
4	lnc-DOCK8-5	chr9:471449-471586	NONHSAT129926
5	lnc-C9orf66-2	chr9:466688-466853	ENSG00000227155.3
6	lnc-DOCK8-5	chr9:471467-471586	NONHSAT129927
7	lnc-C9orf66-4	chr9:761299-761551	XLOC_007628
8	lnc-C9orf66-2	chr9:470765-470816	ENSG00000227155.3
9	lnc-C9orf66-2	chr9:466688-466866	ENSG00000227155.3
10	lnc-C9orf66-3	chr9:685528-685555	ENSG00000227914.3
11	lnc-C9orf66-2	chr9:492084-492112	ENSG00000227155.3
12	lnc-C9orf66-2	chr9:459716-460227	ENSG00000227155.3
13	lnc-C9orf66-2	chr9:465962-466069	ENSG00000227155.3
14	lnc-C9orf66-2	chr9:465962-466069	ENSG00000227155.3
15	lnc-C9orf66-3	chr9:674124-674379	ENSG00000227914.3
16	lnc-DOCK8-1	chr9:487774-487803	ENSG00000228115.1
17	lnc-C9orf66-2	chr9:466688-467219	ENSG00000227155.3
18	lnc-DOCK8-1	chr9:495238-495610	ENSG00000228115.1
19	lnc-C9orf66-2	chr9:459716-459866	ENSG00000227155.3
20	lnc-C9orf66-5	chr9:752722-752856	XLOC_007629
21	lnc-C9orf66-2	chr9:466900-467336	ENSG00000227155.3
22	lnc-C9orf66-2	chr9:469722-469836	ENSG00000227155.3
23	lnc-C9orf66-4	chr9:749336-749509	XLOC_007628
24	lnc-C9orf66-3	chr9:685528-685555	ENSG00000227914.1
25	lnc-DOCK8-5	chr9:484282-484491	NONHSAT129926
26	lnc-C9orf66-7	chr9:503057-504746	NONHSAT129929
27	lnc-C9orf66-2	chr9:465962-466069	ENSG00000227155.3
28	lnc-C9orf66-2	chr9:469722-469802	ENSG00000227155.3
29	lnc-KANK1-1	chr9:748000-751056	NONHSAT129937
30	lnc-KANK1-1	chr9:747412-747469	NONHSAT129937
31	lnc-C9orf66-3	chr9:673817-674379	ENSG00000227914.1
32	lnc-C9orf66-5	chr9:755232-755507	XLOC_007629
33	lnc-DOCK8-2	chr9:547317-547341	ENSG00000226403.1
34	lnc-C9orf66-2	chr9:465962-466069	ENSG00000227155.3
35	lnc-C9orf66-2	chr9:459716-460507	ENSG00000227155.3
36	lnc-DOCK8-5	chr9:473194-473273	NONHSAT129926
37	lnc-KANK1-1	chr9:747272-747365	NONHSAT129937
38	lnc-C9orf66-4	chr9:747413-747469	XLOC_007628
39	lnc-DOCK8-5	chr9:473194-473273	NONHSAT129927
40	lnc-DOCK8-5	chr9:476628-476769	NONHSAT129927
41	lnc-KANK1-1	chr9:746431-746497	NONHSAT129937
42	lnc-C9orf66-2	chr9:488957-489066	ENSG00000227155.3
43	lnc-C9orf66-2	chr9:459716-459866	ENSG00000227155.3
44	lnc-DOCK8-2	chr9:547318-547341	ENSG00000226403.1
45	lnc-C9orf66-2	chr9:466688-467390	ENSG00000227155.3
46	lnc-C9orf66-4	chr9:749336-749496	XLOC_007628
47	lnc-DOCK8-5	chr9:470592-470677	NONHSAT129926
48	lnc-C9orf66-2	chr9:470765-470961	ENSG00000227155.3
49	lnc-C9orf66-3	chr9:677542-677628	ENSG00000227914.3
50	lnc-C9orf66-4	chr9:747413-747469	XLOC_007628

No data

(count:5 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	KANK1	hsa-miR-10a-5p	chr9:745092-745115
2	KANK1	hsa-miR-335-5p	chr9:746049-746071
3	KANK1	hsa-miR-335-5p	chr9:746085-746104
4	KANK1	hsa-miR-124-3p	chr9:746055-746062
5	KANK1	hsa-miR-124-3p	chr9:746043-746062

Variant related genes	Relation type
ENSG00000226403	TF binding region
DOCK8	TF binding region
RNU6-1327P	TF binding region
RN7SL412P	TF binding region
ENSG00000228115	TF binding region
ENSG00000227914	TF binding region
ENSG00000227155	TF binding region
KANK1	TF binding region
ENSG00000235330	TF binding region
ENSG00000229875	TF binding region
ENSG00000226403	CpG island
DOCK8	CpG island
RNU6-1327P	CpG island
RN7SL412P	CpG island
ENSG00000228115	CpG island
ENSG00000227914	CpG island
ENSG00000227155	CpG island
KANK1	CpG island
ENSG00000235330	CpG island
ENSG00000229875	CpG island
ENSG00000228115	chromatin interactions
ENSG00000065978	chromatin interactions
ENSG00000107104	chromatin interactions
ENSG00000168209	chromatin interactions
ENSG00000169641	chromatin interactions
ENSG00000226403	chromatin interactions
ENSG00000107099	chromatin interactions
ENSG00000108557	chromatin interactions
ENSG00000074603	chromatin interactions
ENSG00000235330	chromatin interactions
ENSG00000099810	chromatin interactions
ENSG00000227155	chromatin interactions
ENSG00000227914	chromatin interactions
ENSG00000264545	chromatin interactions
FAM123B	miRNA target sites
PPM1A	miRNA target sites
SOD2	miRNA target sites

Extended variants
information (count: 20178 )
Associated
traits (count: 117 )

Variant overlapped rSNPs/rCNVs (count:20178 , 50 per page) page: 1 2 3 4 5 6 7 ... 404

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7853027	chr9:459024-459025	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs146237507	chr9:459049-459050	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs576297860	chr9:459064-459065	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs77331055	chr9:459075-459076	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs558576730	chr9:459108-459109	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs572201727	chr9:459110-459111	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs541161418	chr9:459200-459201	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs561124932	chr9:459237-459238	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs574908574	chr9:459253-459254	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs573887275	chr9:459304-459305	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs10974583	chr9:459345-459346	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs563781926	chr9:459380-459381	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs115171503	chr9:459391-459392	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs551385930	chr9:459398-459399	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs187849583	chr9:459411-459412	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs1329378	chr9:459427-459428	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs372089918	chr9:459431-459432	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs547484054	chr9:459459-459460	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs556839507	chr9:459478-459479	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs573643004	chr9:459514-459515	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs112574638	chr9:459524-459525	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs139436799	chr9:459562-459563	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs10814996	chr9:459566-459567	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs72705638	chr9:459596-459597	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs558515449	chr9:459706-459707	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs572136432	chr9:459738-459739	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
27	rs142660459	chr9:459759-459760	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
28	rs559530645	chr9:459773-459774	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
29	rs375473185	chr9:459789-459790	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
30	rs554611015	chr9:459804-459805	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
31	rs573233852	chr9:459811-459812	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
32	rs193098630	chr9:459819-459820	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
33	rs543651079	chr9:459820-459821	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
34	rs563947187	chr9:459821-459822	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
35	rs116214994	chr9:459841-459842	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
36	rs184752910	chr9:459881-459882	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
37	rs565244203	chr9:459882-459883	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
38	rs530936104	chr9:459888-459889	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
39	rs527244581	chr9:459898-459899	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
40	rs541035034	chr9:459921-459922	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
41	rs72705640	chr9:459983-459984	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs68016896	chr9:460002-460003	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs150934895	chr9:460011-460012	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
44	rs569869715	chr9:460025-460026	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
45	rs4740781	chr9:460036-460037	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs187559333	chr9:460046-460047	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
47	rs565653600	chr9:460054-460055	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
48	rs10758625	chr9:460072-460073	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs563535557	chr9:460097-460098	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
50	rs554993184	chr9:460125-460126	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:117)

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
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
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
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Ependymoma	20639864	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-small cell lung cancer	16651412	CNVD
Cancer	21272361	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:9461 , 50 per page) page: 1 2 3 4 5 6 7 ... 190

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:322400-467200	Strong transcription	Primary monocytes fromperipheralblood	blood
2	chr9:322400-467200	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr9:323600-467200	Strong transcription	Primary B cells from cord blood	blood
4	chr9:357600-467000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr9:366400-468400	Weak transcription	Small Intestine	intestine
6	chr9:413400-460600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr9:413600-460000	Strong transcription	Primary hematopoietic stem cells	blood
8	chr9:413800-467000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr9:414600-460800	Strong transcription	Fetal Thymus	thymus
10	chr9:418000-466400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr9:423200-460400	Strong transcription	Thymus	Thymus
12	chr9:435200-468600	Weak transcription	Colonic Mucosa	Colon
13	chr9:438400-468600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr9:439800-469600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr9:440800-464800	Strong transcription	GM12878-XiMat	blood
16	chr9:446000-459600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr9:446200-461200	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr9:446600-469800	Weak transcription	Lung	lung
19	chr9:446800-469200	Weak transcription	Esophagus	oesophagus
20	chr9:447800-461000	Strong transcription	Primary B cells from peripheral blood	blood
21	chr9:448000-469000	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr9:448400-460600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr9:448400-466000	Strong transcription	Primary T cells from cord blood	blood
24	chr9:448600-467200	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr9:448800-468400	Weak transcription	Fetal Intestine Small	intestine
26	chr9:448800-469000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr9:450000-468400	Weak transcription	Fetal Intestine Large	intestine
28	chr9:450600-468400	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr9:450600-469000	Weak transcription	K562	blood
30	chr9:450600-469600	Weak transcription	Gastric	stomach
31	chr9:450800-463400	Weak transcription	A549	lung
32	chr9:450800-469200	Weak transcription	Fetal Muscle Trunk	muscle
33	chr9:450800-469600	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr9:451800-466200	Strong transcription	Dnd41	blood
35	chr9:452800-463600	Weak transcription	Duodenum Mucosa	Duodenum
36	chr9:452800-463600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr9:453000-463600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr9:454400-460400	Strong transcription	Spleen	Spleen
39	chr9:454600-463800	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr9:454800-459600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr9:456400-469200	Weak transcription	Brain Hippocampus Middle	brain
42	chr9:456800-463600	Weak transcription	Placenta	Placenta
43	chr9:457200-459600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr9:457200-459800	Weak transcription	Fetal Muscle Leg	muscle
45	chr9:457200-468600	Weak transcription	Pancreas	Pancrea
46	chr9:457400-469600	Weak transcription	Left Ventricle	heart
47	chr9:457800-459600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr9:457800-459800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr9:458000-462600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr9:458200-460400	Genic enhancers	Primary T cells fromperipheralblood	blood

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