Variant report

Variant	nsv539907
Chromosome Location	chr9:685080-910449
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3103)
CpG islands
(count:1342)
Chromatin interactive
region (count:106)
LncRNA
region (count:13)
Mature miRNA
region (count: 0)
miRNA target
sites (count:5)

(count:3103 , 50 per page) page: 1 2 3 4 5 6 7 ... 63

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:792615-792973	HepG2	liver:	n/a	n/a
2	ARID3A	chr9:764021-764430	HepG2	liver:	n/a	n/a
3	ARID3A	chr9:755679-756377	HepG2	liver:	n/a	n/a
4	ARID3A	chr9:745817-746038	HepG2	liver:	n/a	n/a
5	ARID3A	chr9:696723-696891	HepG2	liver:	n/a	n/a
6	ARID3A	chr9:685087-685396	HepG2	liver:	n/a	n/a
7	ARID3A	chr9:726050-726236	HepG2	liver:	n/a	n/a
8	ARID3A	chr9:734845-735045	HepG2	liver:	n/a	n/a
9	ARID3A	chr9:710020-710338	HepG2	liver:	n/a	n/a
10	ARID3A	chr9:716213-716255	HepG2	liver:	n/a	n/a
11	ARID3A	chr9:706757-707182	HepG2	liver:	n/a	chr9:706927-706943
12	ARID3A	chr9:706038-706477	HepG2	liver:	n/a	n/a
13	ARID3A	chr9:744770-744894	HepG2	liver:	n/a	n/a
14	ATF2	chr9:840342-840725	H1-hESC	embryonic stem cell:	n/a	n/a
15	ATF2	chr9:893752-894467	GM12878	blood:	n/a	n/a
16	ATF2	chr9:859161-859692	GM12878	blood:	n/a	n/a
17	ATF2	chr9:880645-881171	GM12878	blood:	n/a	n/a
18	ATF2	chr9:893794-894511	GM12878	blood:	n/a	n/a
19	ATF2	chr9:880676-881163	GM12878	blood:	n/a	n/a
20	ATF2	chr9:859288-859680	GM12878	blood:	n/a	n/a
21	BACH1	chr9:706737-707111	H1-hESC	embryonic stem cell:	n/a	n/a
22	BACH1	chr9:801698-801802	H1-hESC	embryonic stem cell:	n/a	chr9:801716-801730
23	BACH1	chr9:841437-841715	H1-hESC	embryonic stem cell:	n/a	n/a
24	BACH1	chr9:908830-909208	H1-hESC	embryonic stem cell:	n/a	n/a
25	BATF	chr9:800791-801012	GM12878	blood:	n/a	n/a
26	BATF	chr9:808690-808887	GM12878	blood:	n/a	n/a
27	BATF	chr9:893858-894326	GM12878	blood:	n/a	n/a
28	BATF	chr9:755709-756109	GM12878	blood:	n/a	chr9:755945-755954 chr9:755850-755861
29	BATF	chr9:847470-847844	GM12878	blood:	n/a	n/a
30	BATF	chr9:755733-756053	GM12878	blood:	n/a	chr9:755945-755954 chr9:755850-755861
31	BATF	chr9:903869-904086	GM12878	blood:	n/a	n/a
32	BATF	chr9:893792-894397	GM12878	blood:	n/a	n/a
33	BATF	chr9:847504-847840	GM12878	blood:	n/a	n/a
34	BCL11A	chr9:880682-881185	GM12878	blood:	n/a	n/a
35	BCL11A	chr9:840410-840568	H1-hESC	embryonic stem cell:	n/a	n/a
36	BCL11A	chr9:899421-899798	GM12878	blood:	n/a	n/a
37	BCL11A	chr9:859287-859598	GM12878	blood:	n/a	n/a
38	BCL11A	chr9:808677-809119	GM12878	blood:	n/a	n/a
39	BCL11A	chr9:903913-904168	GM12878	blood:	n/a	n/a
40	BCL11A	chr9:899799-900118	GM12878	blood:	n/a	n/a
41	BCL11A	chr9:893909-894335	GM12878	blood:	n/a	n/a
42	BCL11A	chr9:859277-859643	GM12878	blood:	n/a	n/a
43	BCL11A	chr9:899392-899596	H1-hESC	embryonic stem cell:	n/a	n/a
44	BCL11A	chr9:880773-881159	GM12878	blood:	n/a	n/a
45	BCL11A	chr9:893880-894376	GM12878	blood:	n/a	n/a
46	BCL3	chr9:893869-894422	GM12878	blood:	n/a	n/a
47	BCL3	chr9:694616-695281	A549	lung:	n/a	n/a
48	BCL3	chr9:893884-894319	GM12878	blood:	n/a	n/a
49	BCLAF1	chr9:893713-894423	GM12878	blood:	n/a	n/a
50	BCLAF1	chr9:893770-894413	GM12878	blood:	n/a	n/a

(count:1342 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:707410-707460	HNPCEpiC	eye:	n/a
2	chr9:842914-842964	AG09309	skin:	n/a
3	chr9:714269-714319	HPAEpiC	pulmonary alveolar:	n/a
4	chr9:839557-839607	HRPEpiC	eye:	n/a
5	chr9:841559-841609	HRPEpiC	eye:	n/a
6	chr9:839557-839607	HCF	heart:	n/a
7	chr9:841850-841900	HRPEpiC	eye:	n/a
8	chr9:841436-841486	NT2-D1	testis:	n/a
9	chr9:841436-841486	HRCEpiC	kidney:	n/a
10	chr9:705143-705193	HPAEpiC	pulmonary alveolar:	n/a
11	chr9:761482-761532	GM12891	blood:	n/a
12	chr9:899635-899685	SAEC	small airway:	n/a
13	chr9:841636-841686	HRPEpiC	eye:	n/a
14	chr9:707387-707437	HCF	heart:	n/a
15	chr9:845427-845477	U87	brain:	n/a
16	chr9:707410-707460	H1-hESC	embryonic stem cell:	embryo
17	chr9:841559-841609	NH-A	brain:	n/a
18	chr9:761482-761532	T-47D	breast:	n/a
19	chr9:707410-707460	RPTEC	kidney:	n/a
20	chr9:842914-842964	NHBE	bronchial:	n/a
21	chr9:842914-842964	HL-60	blood:	n/a
22	chr9:841436-841486	HEEpiC	esophagus:	n/a
23	chr9:839126-839176	AG04449	skin:	fetal
24	chr9:843748-843798	GM06990	blood:	n/a
25	chr9:826657-826707	HMEC	breast:	n/a
26	chr9:705143-705193	NT2-D1	testis:	n/a
27	chr9:714269-714319	GM12878	blood:	n/a
28	chr9:899635-899685	NHDF-neo	bronchial:	n/a
29	chr9:705143-705193	SKMC	muscle:	n/a
30	chr9:843748-843798	AG04450	lung:	fetal
31	chr9:841632-841682	AoSMC	blood vessel:	n/a
32	chr9:707166-707216	NHDF-neo	bronchial:	n/a
33	chr9:841850-841900	SK-N-SH_RA	brain:	n/a
34	chr9:714269-714319	MCF10A-Er-Src	breast:	n/a
35	chr9:845427-845477	GM12891	blood:	n/a
36	chr9:857563-857613	BJ	skin:	n/a
37	chr9:841436-841486	HRE	kidney:	n/a
38	chr9:842914-842964	BE2_C	brain:	n/a
39	chr9:714269-714319	PANC-1	pancreas:	n/a
40	chr9:839557-839607	HCT-116	colon:	n/a
41	chr9:707410-707460	HEEpiC	esophagus:	n/a
42	chr9:841436-841486	GM19239	blood:	n/a
43	chr9:839557-839607	HPAEpiC	pulmonary alveolar:	n/a
44	chr9:841559-841609	HepG2	liver:	n/a
45	chr9:839557-839607	SKMC	muscle:	n/a
46	chr9:841632-841682	ProgFib	skin:	n/a
47	chr9:841559-841609	AG09319	gingival:	n/a
48	chr9:714269-714319	SK-N-MC	brain:	n/a
49	chr9:843179-843229	HCT-116	colon:	n/a
50	chr9:761482-761532	AG04449	skin:	fetal

(count:106 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr9:846543..848941-chr9:858349..860587,2	K562	blood:
2	chr9:581769..582694-chr9:763829..764743,4	MCF-7	breast:
3	chr9:719690..721572-chr9:723182..726115,2	MCF-7	breast:
4	chr9:613348..614490-chr9:763793..765061,13	MCF-7	breast:
5	chr9:899986..901721-chr9:992328..994954,2	MCF-7	breast:
6	chr9:707320..708881-chr9:710200..712479,2	MCF-7	breast:
7	chr9:706377..708156-chr9:805249..808005,2	MCF-7	breast:
8	chr9:385566..386417-chr9:764222..764740,2	MCF-7	breast:
9	chr9:782884..784766-chr9:785783..787661,2	MCF-7	breast:
10	chr9:757453..760203-chr9:763946..765702,2	MCF-7	breast:
11	chr9:763938..764768-chr9:1004823..1005723,3	MCF-7	breast:
12	chr9:757453..760203-chr9:763946..765702,2	MCF-7	breast:
13	chr9:879356..881162-chr9:885762..888045,2	K562	blood:
14	chr9:721333..724004-chr9:738366..740594,2	MCF-7	breast:
15	chr9:893804..894399-chr9:1008894..1009774,3	K562	blood:
16	chr9:893937..894571-chr9:1000555..1001318,2	MCF-7	breast:
17	chr9:843269..845393-chr9:851272..854140,2	MCF-7	breast:
18	chr9:875320..878036-chr9:881518..883087,2	MCF-7	breast:
19	chr9:698899..701683-chr9:703340..705392,2	MCF-7	breast:
20	chr9:829461..831177-chr9:832230..834782,2	MCF-7	breast:
21	chr16:1239384..1239884-chr9:736833..737597,2	MCF-7	breast:
22	chr9:347478..348338-chr9:806313..807172,2	MCF-7	breast:
23	chr9:734184..736441-chr9:739422..741192,2	MCF-7	breast:
24	chr9:900039..901541-chr9:989164..991359,2	MCF-7	breast:
25	chr9:707080..708925-chr9:715815..718212,3	MCF-7	breast:
26	chr9:693477..696151-chr9:698863..701082,2	MCF-7	breast:
27	chr9:829461..831177-chr9:832230..834782,2	MCF-7	breast:
28	chr9:613714..614307-chr9:893592..894180,2	MCF-7	breast:
29	chr9:706307..708254-chr9:737100..740465,4	MCF-7	breast:
30	chr9:879492..881659-chr9:881684..884926,3	MCF-7	breast:
31	chr9:891442..893609-chr9:898111..900604,2	MCF-7	breast:
32	chr9:763791..764994-chr9:806035..807196,9	MCF-7	breast:
33	chr9:697287..699295-chr9:705065..707332,2	K562	blood:
34	chr9:892827..894783-chr9:997829..1000001,46	MCF-7	breast:
35	chr9:879356..881162-chr9:885762..888045,2	K562	blood:
36	chr9:686763..689090-chr9:692801..694616,2	MCF-7	breast:
37	chr9:698899..701683-chr9:703340..705392,2	MCF-7	breast:
38	chr9:707080..708925-chr9:715815..718212,3	MCF-7	breast:
39	chr9:709767..712435-chr9:740415..742459,2	MCF-7	breast:
40	chr9:852085..854136-chr9:910104..912950,2	K562	blood:
41	chr9:889496..890427-chr9:998557..999062,2	MCF-7	breast:
42	chr9:730043..732840-chr9:737557..739917,2	MCF-7	breast:
43	chr9:725965..727738-chr9:729421..731068,2	MCF-7	breast:
44	chr9:852085..854136-chr9:910104..912950,2	K562	blood:
45	chr9:763806..764607-chr9:806256..807153,5	MCF-7	breast:
46	chr9:613518..614436-chr9:806263..806822,2	MCF-7	breast:
47	chr9:709767..712435-chr9:740415..742459,2	MCF-7	breast:
48	chr9:879492..881659-chr9:881684..884926,3	MCF-7	breast:
49	chr9:801986..804534-chr9:805350..807829,2	MCF-7	breast:
50	chr9:796752..799581-chr9:806597..809420,2	MCF-7	breast:

(count:13 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C9orf66-4	chr9:749336-749496	XLOC_007628
2	lnc-KANK1-1	chr9:746431-746497	NONHSAT129937
3	lnc-KANK1-1	chr9:747412-747469	NONHSAT129937
4	lnc-KANK1-1	chr9:747272-747365	NONHSAT129937
5	lnc-C9orf66-5	chr9:755232-755507	XLOC_007629
6	lnc-C9orf66-3	chr9:685528-685555	ENSG00000227914.3
7	lnc-C9orf66-4	chr9:761299-761551	XLOC_007628
8	lnc-C9orf66-5	chr9:752722-752856	XLOC_007629
9	lnc-C9orf66-4	chr9:749336-749509	XLOC_007628
10	lnc-KANK1-1	chr9:748000-751056	NONHSAT129937
11	lnc-C9orf66-4	chr9:747413-747469	XLOC_007628
12	lnc-C9orf66-3	chr9:685528-685555	ENSG00000227914.1
13	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	chr9:746085-746104
3	KANK1	hsa-miR-335-5p	chr9:746049-746071
4	KANK1	hsa-miR-124-3p	chr9:746055-746062
5	KANK1	hsa-miR-124-3p	chr9:746043-746062

Variant related genes	Relation type
DMRT1	TF binding region
ENSG00000227914	TF binding region
KANK1	TF binding region
DMRT1	CpG island
ENSG00000227914	CpG island
KANK1	CpG island
ENSG00000252991	chromatin interactions
ENSG00000227914	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000108557	chromatin interactions
ENSG00000064218	chromatin interactions
ENSG00000107104	chromatin interactions
PPM1A	miRNA target sites
SOD2	miRNA target sites
FAM123B	miRNA target sites

Extended variants
information (count: 10773 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:10773 , 50 per page) page: 1 2 3 4 5 6 7 ... 216

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182713053	chr9:685126-685127	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs77740100	chr9:685151-685152	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs575118252	chr9:685188-685189	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs532883026	chr9:685197-685198	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs552887117	chr9:685212-685213	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs112217810	chr9:685244-685245	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs149067134	chr9:685247-685248	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs540432901	chr9:685258-685259	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs143071749	chr9:685295-685296	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs567213302	chr9:685299-685300	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs529857040	chr9:685318-685319	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs139264244	chr9:685356-685357	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs201235273	chr9:685397-685398	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs78503916	chr9:685398-685399	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs397735912	chr9:685401-685402	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs369567505	chr9:685407-685408	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs147116447	chr9:685430-685431	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs73372940	chr9:685436-685437	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs566113245	chr9:685441-685442	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs566509840	chr9:685450-685451	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs534663914	chr9:685455-685456	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs187140411	chr9:685462-685463	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs574809100	chr9:685486-685487	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs544718695	chr9:685495-685496	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs543912320	chr9:685512-685513	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs531089498	chr9:685550-685551	Enhancers Weak transcription Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
27	rs572726620	chr9:685551-685552	Enhancers Weak transcription Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
28	rs564672366	chr9:685556-685557	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs138587480	chr9:685571-685572	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs559747096	chr9:685575-685576	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs190002772	chr9:685643-685644	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs73372943	chr9:685663-685664	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs182237262	chr9:685699-685700	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs529769417	chr9:685721-685722	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs142005964	chr9:685752-685753	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs569557327	chr9:685789-685790	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs532172815	chr9:685809-685810	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs552448781	chr9:685813-685814	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs9408677	chr9:685819-685820	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs535039370	chr9:685854-685855	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs189165751	chr9:685855-685856	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs377066044	chr9:685878-685879	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs548779519	chr9:685886-685887	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs912163	chr9:685902-685903	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs111565682	chr9:685925-685926	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs193118648	chr9:685927-685928	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs537875835	chr9:685977-685978	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs530009218	chr9:685990-685991	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs546452420	chr9:686003-686004	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs73639402	chr9:686041-686042	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:116)

Disease	PMID	Source
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	21546498	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
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	21272361	CNVD
Schizophrenia	20967226	CNVD
T-cell lymphomas	22341440	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Ependymoma	20639864	CNVD
Non-small cell lung cancer	16651412	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:4522 , 50 per page) page: 1 2 3 4 5 6 7 ... 91

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:653400-698000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr9:670800-706800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr9:674400-693200	Weak transcription	Primary T cells from cord blood	blood
4	chr9:677800-689400	Weak transcription	Fetal Muscle Trunk	muscle
5	chr9:678000-688000	Weak transcription	Gastric	stomach
6	chr9:678000-695200	Weak transcription	Colonic Mucosa	Colon
7	chr9:680800-692800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr9:682600-685200	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr9:682600-685200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr9:682600-686800	Enhancers	Fetal Heart	heart
11	chr9:682600-687600	Flanking Active TSS	HUVEC	blood vessel
12	chr9:682800-685600	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr9:682800-687200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
14	chr9:682800-688000	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr9:682800-696800	Enhancers	Placenta Amnion	Placenta Amnion
16	chr9:683000-685400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr9:683000-685800	Active TSS	Liver	Liver
18	chr9:683000-686800	Enhancers	Brain Cingulate Gyrus	brain
19	chr9:683000-688000	Active TSS	Aorta	Aorta
20	chr9:683200-685800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr9:683200-685800	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr9:683200-685800	Weak transcription	Left Ventricle	heart
23	chr9:683200-686200	Weak transcription	Lung	lung
24	chr9:683200-687400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr9:683400-685200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr9:683400-686200	Enhancers	A549	lung
27	chr9:683600-686600	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr9:683600-692000	Weak transcription	Duodenum Mucosa	Duodenum
29	chr9:683600-694600	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr9:683800-685200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr9:683800-685600	Enhancers	Right Ventricle	heart
32	chr9:683800-685800	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr9:683800-687200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr9:683800-689000	Enhancers	Placenta	Placenta
35	chr9:684000-685200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr9:684000-685400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr9:684000-686000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr9:684000-687400	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr9:684000-687400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
40	chr9:684000-687400	Enhancers	Brain Angular Gyrus	brain
41	chr9:684200-685200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr9:684200-685400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr9:684200-685600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr9:684400-685600	Active TSS	Colon Smooth Muscle	Colon
45	chr9:684400-686600	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr9:684400-688200	Enhancers	Stomach Mucosa	stomach
47	chr9:684600-685400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr9:684600-685400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr9:684600-686000	Enhancers	Fetal Brain Male	brain
50	chr9:684600-687000	Enhancers	Fetal Intestine Large	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links