Variant report

Variant	nsv931598
Chromosome Location	chr9:349034-862771
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5766)
CpG islands
(count:2076)
Chromatin interactive
region (count:180)
LncRNA
region (count:92)
Mature miRNA
region (count: 0)
miRNA target
sites (count:5)

(count:5766 , 50 per page) page: 1 2 3 4 5 6 7 ... 116

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:592251-592433	HepG2	liver:	n/a	n/a
2	ARID3A	chr9:495829-496174	HepG2	liver:	n/a	n/a
3	ARID3A	chr9:682346-683925	HepG2	liver:	n/a	n/a
4	ARID3A	chr9:745817-746038	HepG2	liver:	n/a	n/a
5	ARID3A	chr9:463883-464115	HepG2	liver:	n/a	n/a
6	ARID3A	chr9:613790-614724	HepG2	liver:	n/a	n/a
7	ARID3A	chr9:726050-726236	HepG2	liver:	n/a	n/a
8	ARID3A	chr9:696723-696891	HepG2	liver:	n/a	n/a
9	ARID3A	chr9:706757-707182	HepG2	liver:	n/a	chr9:706927-706943
10	ARID3A	chr9:685087-685396	HepG2	liver:	n/a	n/a
11	ARID3A	chr9:744770-744894	HepG2	liver:	n/a	n/a
12	ARID3A	chr9:734845-735045	HepG2	liver:	n/a	n/a
13	ARID3A	chr9:504390-504746	K562	blood:	n/a	n/a
14	ARID3A	chr9:676651-678350	HepG2	liver:	n/a	n/a
15	ARID3A	chr9:706038-706477	HepG2	liver:	n/a	n/a
16	ARID3A	chr9:673768-674544	HepG2	liver:	n/a	n/a
17	ARID3A	chr9:672953-673149	HepG2	liver:	n/a	n/a
18	ARID3A	chr9:371491-371553	K562	blood:	n/a	n/a
19	ARID3A	chr9:755679-756377	HepG2	liver:	n/a	n/a
20	ARID3A	chr9:710020-710338	HepG2	liver:	n/a	n/a
21	ARID3A	chr9:489187-489524	HepG2	liver:	n/a	n/a
22	ARID3A	chr9:764021-764430	HepG2	liver:	n/a	n/a
23	ARID3A	chr9:716213-716255	HepG2	liver:	n/a	n/a
24	ARID3A	chr9:792615-792973	HepG2	liver:	n/a	n/a
25	ATF1	chr9:428430-428702	K562	blood:	n/a	n/a
26	ATF1	chr9:491995-492195	K562	blood:	n/a	n/a
27	ATF2	chr9:859161-859692	GM12878	blood:	n/a	n/a
28	ATF2	chr9:859288-859680	GM12878	blood:	n/a	n/a
29	ATF2	chr9:840342-840725	H1-hESC	embryonic stem cell:	n/a	n/a
30	ATF3	chr9:557723-558324	A549	lung:	n/a	n/a
31	BACH1	chr9:674115-674612	H1-hESC	embryonic stem cell:	n/a	n/a
32	BACH1	chr9:503516-503574	H1-hESC	embryonic stem cell:	n/a	n/a
33	BACH1	chr9:557912-558114	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	chr9:505331-505595	H1-hESC	embryonic stem cell:	n/a	n/a
36	BACH1	chr9:652937-653241	H1-hESC	embryonic stem cell:	n/a	n/a
37	BACH1	chr9:841437-841715	H1-hESC	embryonic stem cell:	n/a	n/a
38	BACH1	chr9:801698-801802	H1-hESC	embryonic stem cell:	n/a	chr9:801716-801730
39	BACH1	chr9:706737-707111	H1-hESC	embryonic stem cell:	n/a	n/a
40	BACH1	chr9:503882-504954	H1-hESC	embryonic stem cell:	n/a	n/a
41	BACH1	chr9:470546-470746	H1-hESC	embryonic stem cell:	n/a	n/a
42	BACH1	chr9:450112-450344	H1-hESC	embryonic stem cell:	n/a	n/a
43	BATF	chr9:847504-847840	GM12878	blood:	n/a	n/a
44	BATF	chr9:755733-756053	GM12878	blood:	n/a	chr9:755945-755954 chr9:755850-755861
45	BATF	chr9:800791-801012	GM12878	blood:	n/a	n/a
46	BATF	chr9:847470-847844	GM12878	blood:	n/a	n/a
47	BATF	chr9:755709-756109	GM12878	blood:	n/a	chr9:755945-755954 chr9:755850-755861
48	BATF	chr9:808690-808887	GM12878	blood:	n/a	n/a
49	BCL11A	chr9:859277-859643	GM12878	blood:	n/a	n/a
50	BCL11A	chr9:808677-809119	GM12878	blood:	n/a	n/a

(count:2076 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:845427-845477	NB4	blood:	n/a
2	chr9:574312-574362	AG09309	skin:	n/a
3	chr9:845427-845477	NB4	blood:	n/a
4	chr9:574312-574362	AG09309	skin:	n/a
5	chr9:505721-505771	U87	brain:	n/a
6	chr9:472966-473016	GM19239	blood:	n/a
7	chr9:426894-426944	IMR90	lung:	fetal
8	chr9:707387-707437	SK-N-SH_RA	brain:	n/a
9	chr9:839126-839176	HCT-116	colon:	n/a
10	chr9:845427-845477	MCF10A-Er-Src	breast:	n/a
11	chr9:843179-843229	AG10803	skin:	n/a
12	chr9:472966-473016	AG09309	skin:	n/a
13	chr9:841850-841900	HEEpiC	esophagus:	n/a
14	chr9:470323-470373	HEEpiC	esophagus:	n/a
15	chr9:472966-473016	HCT-116	colon:	n/a
16	chr9:845427-845477	K562	blood:	n/a
17	chr9:761482-761532	HRCEpiC	kidney:	n/a
18	chr9:469777-469827	PrEC	prostate:	n/a
19	chr9:841632-841682	ProgFib	skin:	n/a
20	chr9:707387-707437	HCM	heart:	n/a
21	chr9:426894-426944	AoSMC	blood vessel:	n/a
22	chr9:503937-503987	HRE	kidney:	n/a
23	chr9:472966-473016	HEK293	kidney:	embryo
24	chr9:843748-843798	HRCEpiC	kidney:	n/a
25	chr9:504774-504824	HUVEC	blood vessel:	n/a
26	chr9:826657-826707	K562	blood:	n/a
27	chr9:714269-714319	HCF	heart:	n/a
28	chr9:707410-707460	GM12878	blood:	n/a
29	chr9:705143-705193	GM19239	blood:	n/a
30	chr9:574312-574362	AG09319	gingival:	n/a
31	chr9:761482-761532	GM12891	blood:	n/a
32	chr9:839557-839607	GM12878	blood:	n/a
33	chr9:470109-470159	Jurkat	blood:	n/a
34	chr9:841559-841609	SK-N-SH	brain:	n/a
35	chr9:505235-505285	Jurkat	blood:	n/a
36	chr9:505571-505621	MCF10A-Er-Src	breast:	n/a
37	chr9:505721-505771	A549	lung:	n/a
38	chr9:845427-845477	HEEpiC	esophagus:	n/a
39	chr9:707166-707216	NHDF-neo	bronchial:	n/a
40	chr9:505571-505621	NT2-D1	testis:	n/a
41	chr9:426894-426944	Hepatocyte	liver:	n/a
42	chr9:705143-705193	SKMC	muscle:	n/a
43	chr9:843179-843229	SK-N-MC	brain:	n/a
44	chr9:843748-843798	GM06990	blood:	n/a
45	chr9:707166-707216	SK-N-SH	brain:	n/a
46	chr9:574312-574362	SK-N-SH	brain:	n/a
47	chr9:843179-843229	PANC-1	pancreas:	n/a
48	chr9:707387-707437	BJ	skin:	n/a
49	chr9:471920-471970	Jurkat	blood:	n/a
50	chr9:841436-841486	HEK293	kidney:	embryo

(count:180 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr9:613644..614435-chr9:753933..755128,3	MCF-7	breast:
2	chr9:418287..419917-chr9:426635..429458,2	MCF-7	breast:
3	chr9:347951..349550-chr9:363997..366575,2	MCF-7	breast:
4	chr9:490052..492255-chr9:502875..504712,2	MCF-7	breast:
5	chr9:387700..389795-chr9:395557..397565,2	MCF-7	breast:
6	chr9:706307..708254-chr9:737100..740465,4	MCF-7	breast:
7	chr9:680230..683179-chr9:683361..685450,2	MCF-7	breast:
8	chr9:385566..386417-chr9:764222..764740,2	MCF-7	breast:
9	chr9:444957..447415-chrX:145121393..145123151,2	MCF-7	breast:
10	chr9:725965..727738-chr9:729421..731068,2	MCF-7	breast:
11	chr9:535330..537087-chr9:549296..551126,2	K562	blood:
12	chr9:680230..683179-chr9:683361..685450,2	MCF-7	breast:
13	chr1:43147839..43148507-chr9:470046..470650,2	NB4	blood:
14	chr9:396487..398165-chr9:401103..402938,2	K562	blood:
15	chr9:634722..638024-chr9:640128..643682,5	MCF-7	breast:
16	chr9:581168..581745-chr9:613579..614471,2	MCF-7	breast:
17	chr9:782884..784766-chr9:785783..787661,2	MCF-7	breast:
18	chr9:459270..461586-chr9:468346..470515,2	MCF-7	breast:
19	chr9:613518..614436-chr9:806263..806822,2	MCF-7	breast:
20	chr9:581860..582832-chr9:613640..614518,3	MCF-7	breast:
21	chr9:640721..642302-chr9:644961..647354,2	K562	blood:
22	chr9:613650..614569-chr9:806256..807252,7	MCF-7	breast:
23	chr9:719690..721572-chr9:723182..726115,2	MCF-7	breast:
24	chr9:829461..831177-chr9:832230..834782,2	MCF-7	breast:
25	chr9:613541..614622-chr9:757205..758240,10	MCF-7	breast:
26	chr9:469030..473266-chr9:476113..479118,4	MCF-7	breast:
27	chr9:454476..456616-chr9:461041..463916,2	MCF-7	breast:
28	chr17:17584235..17586582-chr9:741151..743803,2	MCF-7	breast:
29	chr9:494848..496689-chr9:501659..504144,2	MCF-7	breast:
30	chr9:385494..386481-chr9:546680..547596,3	MCF-7	breast:
31	chr9:468830..470676-chr9:503247..506779,4	MCF-7	breast:
32	chr9:512039..514160-chr9:515791..519174,3	K562	blood:
33	chr12:21809676..21810203-chr9:455132..455632,2	NB4	blood:
34	chr9:487771..490019-chr9:514331..516293,2	MCF-7	breast:
35	chr9:452598..454624-chr9:456757..459664,2	MCF-7	breast:
36	chr9:763806..764607-chr9:806256..807153,5	MCF-7	breast:
37	chr9:555602..557901-chr9:561314..563396,2	K562	blood:
38	chr9:438728..443718-chr9:444221..448963,4	K562	blood:
39	chr9:613644..614435-chr9:753933..755128,3	MCF-7	breast:
40	chr9:734184..736441-chr9:739422..741192,2	MCF-7	breast:
41	chr9:613541..614622-chr9:757205..758240,10	MCF-7	breast:
42	chr9:555602..557901-chr9:561314..563396,2	K562	blood:
43	chr9:350965..353575-chr9:397923..399924,2	K562	blood:
44	chr9:469030..473266-chr9:476113..479118,4	MCF-7	breast:
45	chr9:347287..349476-chr9:362112..363970,2	MCF-7	breast:
46	chr9:613814..614512-chr9:1017801..1018342,2	MCF-7	breast:
47	chr9:721333..724004-chr9:738366..740594,2	MCF-7	breast:
48	chr9:613569..614095-chr9:1100690..1101615,2	MCF-7	breast:
49	chr9:640721..642302-chr9:644961..647354,2	K562	blood:
50	chr9:347478..348338-chr9:806313..807172,2	MCF-7	breast:

(count:92 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DOCK8-5	chr9:476628-476769	NONHSAT129927
2	lnc-C9orf66-2	chr9:454304-454606	ENSG00000227155.3
3	lnc-DOCK8-2	chr9:547038-547341	NONHSAT129931
4	lnc-DOCK8-2	chr9:547317-547341	ENSG00000226403.1
5	lnc-C9orf66-2	chr9:466900-467336	ENSG00000227155.3
6	lnc-C9orf66-2	chr9:459716-459866	ENSG00000227155.3
7	lnc-DOCK8-5	chr9:473194-473273	NONHSAT129927
8	lnc-C9orf66-2	chr9:456915-457047	ENSG00000227155.3
9	lnc-C9orf66-2	chr9:465962-466069	ENSG00000227155.3
10	lnc-C9orf66-2	chr9:470765-470961	ENSG00000227155.3
11	lnc-C9orf66-2	chr9:488957-489066	ENSG00000227155.3
12	lnc-C9orf66-2	chr9:469722-469836	ENSG00000227155.3
13	lnc-C9orf66-4	chr9:761299-761551	XLOC_007628
14	lnc-KANK1-1	chr9:748000-751056	NONHSAT129937
15	lnc-C9orf66-2	chr9:456915-457047	ENSG00000227155.3
16	lnc-C9orf66-2	chr9:456915-457047	ENSG00000227155.3
17	lnc-C9orf66-2	chr9:465962-466069	ENSG00000227155.3
18	lnc-C9orf66-2	chr9:466688-467219	ENSG00000227155.3
19	lnc-C9orf66-5	chr9:752722-752856	XLOC_007629
20	lnc-C9orf66-2	chr9:456211-456703	ENSG00000227155.3
21	lnc-KANK1-1	chr9:746431-746497	NONHSAT129937
22	lnc-C9orf66-2	chr9:456530-456703	ENSG00000227155.3
23	lnc-KANK1-1	chr9:747412-747469	NONHSAT129937
24	lnc-C9orf66-2	chr9:465962-466069	ENSG00000227155.3
25	lnc-C9orf66-4	chr9:747413-747469	XLOC_007628
26	lnc-DOCK8-1	chr9:487774-487803	ENSG00000228115.1
27	lnc-DOCK8-5	chr9:471467-471586	NONHSAT129927
28	lnc-DOCK8-5	chr9:471449-471586	NONHSAT129926
29	lnc-C9orf66-4	chr9:747413-747469	XLOC_007628
30	lnc-C9orf66-2	chr9:456201-456703	ENSG00000227155.3
31	lnc-C9orf66-2	chr9:456518-456703	ENSG00000227155.3
32	lnc-C9orf66-2	chr9:456915-457047	ENSG00000227155.3
33	lnc-C9orf66-7	chr9:503057-504746	NONHSAT129929
34	lnc-DOCK8-2	chr9:549107-549525	NONHSAT129931
35	lnc-C9orf66-3	chr9:680857-681046	ENSG00000227914.3
36	lnc-C9orf66-2	chr9:454585-454606	ENSG00000227155.3
37	lnc-C9orf66-3	chr9:677542-677628	ENSG00000227914.3
38	lnc-C9orf66-2	chr9:456545-456703	ENSG00000227155.3
39	lnc-C9orf66-2	chr9:470765-470934	ENSG00000227155.3
40	lnc-C9orf66-2	chr9:456201-456703	ENSG00000227155.3
41	lnc-C9orf66-2	chr9:454304-454606	ENSG00000227155.1
42	lnc-C9orf66-2	chr9:454576-454606	ENSG00000227155.3
43	lnc-C9orf66-2	chr9:454447-454606	ENSG00000227155.3
44	lnc-C9orf66-3	chr9:673817-674379	ENSG00000227914.1
45	lnc-C9orf66-2	chr9:466688-466866	ENSG00000227155.3
46	lnc-C9orf66-2	chr9:465962-466065	ENSG00000227155.3
47	lnc-C9orf66-3	chr9:685528-685555	ENSG00000227914.3
48	lnc-C9orf66-2	chr9:459716-460227	ENSG00000227155.3
49	lnc-C9orf66-2	chr9:456201-456703	ENSG00000227155.3
50	lnc-C9orf66-2	chr9:454432-454606	ENSG00000227155.3

No data

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

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

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
DMRT1	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
DMRT1	CpG island
ENSG00000227914	CpG island
ENSG00000227155	CpG island
KANK1	CpG island
ENSG00000235330	CpG island
ENSG00000229875	CpG island
ENSG00000264545	chromatin interactions
ENSG00000228115	chromatin interactions
ENSG00000065978	chromatin interactions
ENSG00000227155	chromatin interactions
ENSG00000074603	chromatin interactions
ENSG00000107104	chromatin interactions
ENSG00000108557	chromatin interactions
ENSG00000099810	chromatin interactions
ENSG00000226403	chromatin interactions
ENSG00000107099	chromatin interactions
ENSG00000169641	chromatin interactions
ENSG00000168209	chromatin interactions
ENSG00000227914	chromatin interactions
ENSG00000235330	chromatin interactions
PPM1A	miRNA target sites
SOD2	miRNA target sites
FAM123B	miRNA target sites

Extended variants
information (count: 27730 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:27730 , 50 per page) page: 1 2 3 4 5 6 7 ... 555

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139902423	chr9:349044-349045	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs536805159	chr9:349056-349057	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs565973245	chr9:349057-349058	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs7864153	chr9:349062-349063	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs576629373	chr9:349105-349106	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs553895450	chr9:349120-349121	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs149845459	chr9:349164-349165	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs566393847	chr9:349165-349166	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs7872650	chr9:349181-349182	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs16933192	chr9:349182-349183	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs185522904	chr9:349239-349240	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs540252122	chr9:349241-349242	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs35870705	chr9:349313-349314	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs397798868	chr9:349318-349319	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs191072099	chr9:349383-349384	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs145883038	chr9:349388-349389	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs542385572	chr9:349404-349405	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs182423481	chr9:349422-349423	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs537321646	chr9:349451-349452	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs141533726	chr9:349504-349505	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs35350546	chr9:349508-349509	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs189140429	chr9:349514-349515	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs7855377	chr9:349518-349519	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs192051290	chr9:349533-349534	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs7855392	chr9:349557-349558	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs183174575	chr9:349579-349580	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs555440579	chr9:349663-349664	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs536744931	chr9:349664-349665	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs556754773	chr9:349680-349681	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs570139680	chr9:349686-349687	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs539266444	chr9:349713-349714	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs7855636	chr9:349721-349722	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs541235124	chr9:349727-349728	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs572733556	chr9:349741-349742	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs34689632	chr9:349825-349826	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs73639060	chr9:349826-349827	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs11793121	chr9:349831-349832	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs187511586	chr9:349851-349852	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs562645433	chr9:349900-349901	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs576156834	chr9:349916-349917	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs11794685	chr9:349926-349927	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs564996790	chr9:349927-349928	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs372633396	chr9:349932-349933	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs192080325	chr9:349957-349958	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs576298894	chr9:349966-349967	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs145392145	chr9:349996-349997	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs147668185	chr9:350036-350037	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs118107061	chr9:350052-350053	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs77113604	chr9:350054-350055	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs142388931	chr9:350071-350072	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:122)

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
Schizophrenia	20967226	CNVD
Lung cancer	18438408	CNVD
Autism	20531469	CNVD
Non-syndromic sensorineural hearing loss	17122850	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
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
early-passage human iPS cells	21368824	CNVD
Renal cell carcinoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Ependymoma	20639864	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Schizophrenia	23813976	CNVD
Non-small cell lung cancer	16651412	CNVD
Cancer	21272361	CNVD

Chromatin state (count:10946 , 50 per page) page: 1 2 3 4 5 6 7 ... 219

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:302600-350200	Weak transcription	Small Intestine	intestine
2	chr9:305200-378000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr9:317800-352200	Weak transcription	K562	blood
4	chr9:322400-349400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr9:322400-349600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr9:322400-350000	Strong transcription	Primary B cells from peripheral blood	blood
7	chr9:322400-353600	Strong transcription	Fetal Thymus	thymus
8	chr9:322400-355600	Strong transcription	Thymus	Thymus
9	chr9:322400-412200	Strong transcription	Primary T cells from cord blood	blood
10	chr9:322400-447000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr9:322400-467200	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr9:322400-467200	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr9:322600-349400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr9:323600-359800	Strong transcription	Dnd41	blood
15	chr9:323600-467200	Strong transcription	Primary B cells from cord blood	blood
16	chr9:325200-357400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr9:325600-361600	Strong transcription	GM12878-XiMat	blood
18	chr9:326400-359200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr9:332600-349200	Strong transcription	Spleen	Spleen
20	chr9:335600-349800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr9:335600-350000	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr9:335800-349400	Strong transcription	Primary T helper cells PMA-I stimulated	--
23	chr9:335800-349600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
24	chr9:335800-371600	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr9:336200-349600	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr9:336200-349600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr9:337200-376600	Weak transcription	Colonic Mucosa	Colon
28	chr9:337600-368000	Weak transcription	Gastric	stomach
29	chr9:337800-378400	Weak transcription	Esophagus	oesophagus
30	chr9:338800-351200	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr9:344200-353200	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr9:345800-369200	Weak transcription	Lung	lung
33	chr9:346000-369800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr9:346400-353000	Weak transcription	Adipose Nuclei	Adipose
35	chr9:346600-368200	Weak transcription	Pancreas	Pancrea
36	chr9:346800-353600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr9:347200-349600	Weak transcription	Primary hematopoietic stem cells	blood
38	chr9:347200-367800	Weak transcription	Duodenum Mucosa	Duodenum
39	chr9:347600-354000	Weak transcription	Fetal Muscle Trunk	muscle
40	chr9:347800-351200	Weak transcription	Placenta	Placenta
41	chr9:348000-349600	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr9:348200-350600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr9:348200-350800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr9:348400-349200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr9:348400-350000	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr9:348400-351000	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr9:348600-353000	Weak transcription	Fetal Muscle Leg	muscle
48	chr9:348800-350400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr9:349000-350000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr9:349000-350200	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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