Variant report

Variant	nsv613037
Chromosome Location	chr9:643453-1138368
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6224)
CpG islands
(count:5191)
Chromatin interactive
region (count:223)
LncRNA
region (count:49)
Mature miRNA
region (count: 0)
miRNA target
sites (count:5)

(count:6224 , 50 per page) page: 1 2 3 4 5 6 7 ... 125

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:676651-678350	HepG2	liver:	n/a	n/a
2	ARID3A	chr9:706757-707182	HepG2	liver:	n/a	chr9:706927-706943
3	ARID3A	chr9:744770-744894	HepG2	liver:	n/a	n/a
4	ARID3A	chr9:792615-792973	HepG2	liver:	n/a	n/a
5	ARID3A	chr9:682346-683925	HepG2	liver:	n/a	n/a
6	ARID3A	chr9:673768-674544	HepG2	liver:	n/a	n/a
7	ARID3A	chr9:696723-696891	HepG2	liver:	n/a	n/a
8	ARID3A	chr9:726050-726236	HepG2	liver:	n/a	n/a
9	ARID3A	chr9:685087-685396	HepG2	liver:	n/a	n/a
10	ARID3A	chr9:716213-716255	HepG2	liver:	n/a	n/a
11	ARID3A	chr9:764021-764430	HepG2	liver:	n/a	n/a
12	ARID3A	chr9:755679-756377	HepG2	liver:	n/a	n/a
13	ARID3A	chr9:734845-735045	HepG2	liver:	n/a	n/a
14	ARID3A	chr9:710020-710338	HepG2	liver:	n/a	n/a
15	ARID3A	chr9:706038-706477	HepG2	liver:	n/a	n/a
16	ARID3A	chr9:745817-746038	HepG2	liver:	n/a	n/a
17	ARID3A	chr9:1009225-1009309	K562	blood:	n/a	n/a
18	ARID3A	chr9:672953-673149	HepG2	liver:	n/a	n/a
19	ATF1	chr9:1013083-1013384	K562	blood:	n/a	n/a
20	ATF2	chr9:880676-881163	GM12878	blood:	n/a	n/a
21	ATF2	chr9:840342-840725	H1-hESC	embryonic stem cell:	n/a	n/a
22	ATF2	chr9:859288-859680	GM12878	blood:	n/a	n/a
23	ATF2	chr9:880645-881171	GM12878	blood:	n/a	n/a
24	ATF2	chr9:893794-894511	GM12878	blood:	n/a	n/a
25	ATF2	chr9:893752-894467	GM12878	blood:	n/a	n/a
26	ATF2	chr9:859161-859692	GM12878	blood:	n/a	n/a
27	ATF3	chr9:1018242-1018408	K562	blood:	n/a	n/a
28	ATF3	chr9:1018219-1018540	HepG2	liver:	n/a	n/a
29	BACH1	chr9:969420-970114	H1-hESC	embryonic stem cell:	n/a	n/a
30	BACH1	chr9:1005054-1005459	H1-hESC	embryonic stem cell:	n/a	n/a
31	BACH1	chr9:971586-971900	H1-hESC	embryonic stem cell:	n/a	n/a
32	BACH1	chr9:841437-841715	H1-hESC	embryonic stem cell:	n/a	n/a
33	BACH1	chr9:1051968-1052204	H1-hESC	embryonic stem cell:	n/a	n/a
34	BACH1	chr9:972119-972583	H1-hESC	embryonic stem cell:	n/a	n/a
35	BACH1	chr9:706737-707111	H1-hESC	embryonic stem cell:	n/a	n/a
36	BACH1	chr9:801698-801802	H1-hESC	embryonic stem cell:	n/a	chr9:801716-801730
37	BACH1	chr9:971010-971040	H1-hESC	embryonic stem cell:	n/a	n/a
38	BACH1	chr9:674115-674612	H1-hESC	embryonic stem cell:	n/a	n/a
39	BACH1	chr9:908830-909208	H1-hESC	embryonic stem cell:	n/a	n/a
40	BACH1	chr9:919938-919953	K562	blood:	n/a	n/a
41	BACH1	chr9:976333-976475	H1-hESC	embryonic stem cell:	n/a	n/a
42	BACH1	chr9:652937-653241	H1-hESC	embryonic stem cell:	n/a	n/a
43	BATF	chr9:847504-847840	GM12878	blood:	n/a	n/a
44	BATF	chr9:903869-904086	GM12878	blood:	n/a	n/a
45	BATF	chr9:893858-894326	GM12878	blood:	n/a	n/a
46	BATF	chr9:893792-894397	GM12878	blood:	n/a	n/a
47	BATF	chr9:808690-808887	GM12878	blood:	n/a	n/a
48	BATF	chr9:847470-847844	GM12878	blood:	n/a	n/a
49	BATF	chr9:755709-756109	GM12878	blood:	n/a	chr9:755945-755954 chr9:755850-755861
50	BATF	chr9:998447-999060	GM12878	blood:	n/a	n/a

(count:5191 , 50 per page) page: 1 2 3 4 5 6 7 ... 104

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:974533-974583	PANC-1	pancreas:	n/a
2	chr9:1042970-1043020	HEK293	kidney:	embryo
3	chr9:970297-970347	GM06990	blood:	n/a
4	chr9:826657-826707	SAEC	small airway:	n/a
5	chr9:978258-978308	ovcar-3	ovarian:	n/a
6	chr9:899635-899685	SAEC	small airway:	n/a
7	chr9:974533-974583	PANC-1	pancreas:	n/a
8	chr9:1042970-1043020	HEK293	kidney:	embryo
9	chr9:970297-970347	GM06990	blood:	n/a
10	chr9:826657-826707	SAEC	small airway:	n/a
11	chr9:978258-978308	ovcar-3	ovarian:	n/a
12	chr9:899635-899685	SAEC	small airway:	n/a
13	chr9:841636-841686	HRPEpiC	eye:	n/a
14	chr9:995579-995629	HCF	heart:	n/a
15	chr9:974820-974870	LNCaP	prostate:	n/a
16	chr9:971046-971096	HCPEpiC	choroid plexus:	n/a
17	chr9:971757-971807	Caco-2	colon:	n/a
18	chr9:977490-977540	AG09319	gingival:	n/a
19	chr9:1045628-1045678	ProgFib	skin:	n/a
20	chr9:998261-998311	HIPEpiC	eye:	n/a
21	chr9:969544-969594	HCF	heart:	n/a
22	chr9:1052046-1052096	LNCaP	prostate:	n/a
23	chr9:839126-839176	HEK293	kidney:	embryo
24	chr9:761482-761532	RPTEC	kidney:	n/a
25	chr9:976645-976695	HEEpiC	esophagus:	n/a
26	chr9:977770-977820	ovcar-3	ovarian:	n/a
27	chr9:972520-972570	BE2_C	brain:	n/a
28	chr9:972520-972570	NT2-D1	testis:	n/a
29	chr9:990260-990310	AoSMC	blood vessel:	n/a
30	chr9:970379-970429	RPTEC	kidney:	n/a
31	chr9:975825-975875	AG04449	skin:	fetal
32	chr9:1056640-1056690	HCPEpiC	choroid plexus:	n/a
33	chr9:1042202-1042252	HRE	kidney:	n/a
34	chr9:972520-972570	BJ	skin:	n/a
35	chr9:761482-761532	H1-hESC	embryonic stem cell:	embryo
36	chr9:975997-976047	MCF10A-Er-Src	breast:	n/a
37	chr9:1046103-1046153	GM06990	blood:	n/a
38	chr9:841636-841686	HCT-116	colon:	n/a
39	chr9:974533-974583	NHBE	bronchial:	n/a
40	chr9:991047-991097	HMEC	breast:	n/a
41	chr9:970297-970347	HEK293	kidney:	embryo
42	chr9:998547-998597	HepG2	liver:	n/a
43	chr9:1054346-1054396	LNCaP	prostate:	n/a
44	chr9:1047220-1047270	SAEC	small airway:	n/a
45	chr9:972520-972570	AG09309	skin:	n/a
46	chr9:970605-970655	PrEC	prostate:	n/a
47	chr9:1047220-1047270	HNPCEpiC	eye:	n/a
48	chr9:841559-841609	IMR90	lung:	fetal
49	chr9:977556-977606	SK-N-SH	brain:	n/a
50	chr9:968090-968140	LNCaP	prostate:	n/a

(count:223 , 50 per page) page: 1 2 3 4 5

No.	Distal block	Cell Line	Cell type
1	chr9:962191..965396-chr9:970150..972525,3	MCF-7	breast:
2	chr9:893739..894732-chr9:1008819..1009733,5	MCF-7	breast:
3	chr9:971648..973169-chr9:976261..977886,2	MCF-7	breast:
4	chr9:892827..894783-chr9:997829..1000001,46	MCF-7	breast:
5	chr9:826413..827016-chr9:1004866..1005745,2	MCF-7	breast:
6	chr9:680963..683890-chr9:685859..688092,2	MCF-7	breast:
7	chr9:1017784..1019327-chr9:1158625..1160475,2	MCF-7	breast:
8	chr9:960997..962745-chr9:963158..965869,2	MCF-7	breast:
9	chr9:704209..707068-chr9:719899..721523,2	MCF-7	breast:
10	chr9:970488..973347-chr9:974585..976403,2	K562	blood:
11	chr9:1100954..1101519-chr9:1619985..1620571,2	MCF-7	breast:
12	chr9:967263..969449-chr9:973261..974895,2	MCF-7	breast:
13	chr9:734184..736441-chr9:739422..741192,2	MCF-7	breast:
14	chr9:744945..746598-chr9:748652..750929,2	K562	blood:
15	chr9:1100638..1101499-chr9:1337048..1337780,3	MCF-7	breast:
16	chr9:1036905..1039413-chr9:1128661..1130161,2	MCF-7	breast:
17	chr9:891599..892777-chr9:998523..999622,4	MCF-7	breast:
18	chr9:734184..736441-chr9:739422..741192,2	MCF-7	breast:
19	chr9:1036670..1037506-chr9:1050009..1050746,3	MCF-7	breast:
20	chr9:613586..614504-chr9:756894..758172,6	MCF-7	breast:
21	chr9:707080..708925-chr9:715815..718212,3	MCF-7	breast:
22	chr9:725965..727738-chr9:729421..731068,2	MCF-7	breast:
23	chr9:887794..889918-chr9:1005357..1008295,2	MCF-7	breast:
24	chr9:953799..955412-chr9:960065..962028,2	MCF-7	breast:
25	chr9:843269..845393-chr9:851272..854140,2	MCF-7	breast:
26	chr9:1007423..1009287-chr9:1045081..1047981,2	MCF-7	breast:
27	chr9:1100620..1101481-chr9:1337009..1337893,4	MCF-7	breast:
28	chr9:893937..894571-chr9:1000555..1001318,2	MCF-7	breast:
29	chr9:1025025..1027123-chr9:1035278..1038960,3	MCF-7	breast:
30	chr9:697287..699295-chr9:705065..707332,2	K562	blood:
31	chr9:1124326..1126756-chr9:1130042..1131544,2	MCF-7	breast:
32	chr9:873202..875175-chr9:876431..878577,2	K562	blood:
33	chr9:1017795..1018400-chr9:1429068..1429992,2	MCF-7	breast:
34	chr9:1058546..1060876-chr9:1062329..1064196,2	MCF-7	breast:
35	chr9:1052914..1055179-chr9:1057328..1059620,2	MCF-7	breast:
36	chr9:1050100..1050940-chr9:1085686..1086526,2	MCF-7	breast:
37	chr9:958309..961593-chr9:963098..965708,4	MCF-7	breast:
38	chr9:979709..982475-chr9:990921..992536,2	MCF-7	breast:
39	chr7:31567098..31567732-chr9:1023490..1024312,2	MCF-7	breast:
40	chr9:686763..689090-chr9:692801..694616,2	MCF-7	breast:
41	chr9:967263..969449-chr9:973261..974895,2	MCF-7	breast:
42	chr9:707080..708925-chr9:715815..718212,3	MCF-7	breast:
43	chr9:1048582..1050101-chr9:1206689..1209470,2	MCF-7	breast:
44	chr9:893903..894431-chr9:1004790..1005383,2	K562	blood:
45	chr9:1124326..1126756-chr9:1130042..1131544,2	MCF-7	breast:
46	chr9:994727..996463-chr9:998360..1001251,2	K562	blood:
47	chr9:719690..721572-chr9:723182..726115,2	MCF-7	breast:
48	chr9:730043..732840-chr9:737557..739917,2	MCF-7	breast:
49	chr9:998424..999235-chr9:1008893..1009451,2	MCF-7	breast:
50	chr8:128752586..128753455-chr9:706903..707668,2	NB4	blood:

(count:49 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DMRT1-3	chr9:659986-660326	NONHSAT129934
2	lnc-DMRT2-1	chr9:1046419-1046776	XLOC_007262
3	lnc-C9orf66-3	chr9:680857-681046	ENSG00000227914.1
4	lnc-C9orf66-3	chr9:677542-677628	ENSG00000227914.3
5	lnc-C9orf66-3	chr9:674124-674379	ENSG00000227914.3
6	lnc-C9orf66-6	chr9:1041868-1042520	XLOC_007630
7	lnc-C9orf66-9	chr9:959154-959514	uc_247_-
8	lnc-DMRT3-4	chr9:1011085-1011386	NONHSAT129956
9	lnc-DMRT3-1	chr9:974188-974410	NONHSAT129952
10	lnc-C9orf66-6	chr9:1041219-1041345	XLOC_007630
11	lnc-C9orf66-4	chr9:761299-761551	XLOC_007628
12	lnc-DMRT3-5	chr9:1050621-1050775	NONHSAT129963
13	lnc-DMRT3-4	chr9:1011710-1011799	NONHSAT129956
14	lnc-DMRT2-1	chr9:1047151-1049242	XLOC_007262
15	lnc-C9orf66-11	chr9:1031868-1032520	NONHSAT129957
16	lnc-C9orf66-4	chr9:749336-749509	XLOC_007628
17	lnc-DMRT2-1	chr9:1046579-1046776	XLOC_007262
18	lnc-KANK1-1	chr9:747272-747365	NONHSAT129937
19	lnc-KANK1-1	chr9:747412-747469	NONHSAT129937
20	lnc-C9orf66-3	chr9:680857-681046	ENSG00000227914.3
21	lnc-DMRT3-2	chr9:964189-964410	uc_248_+
22	lnc-DMRT2-3	chr9:1037151-1038637	l_3724_chr9:1035597-1038637_adipose
23	lnc-DMRT2-1	chr9:1046079-1047957	XLOC_007262
24	lnc-DMRT2-3	chr9:1035598-1035800	l_3724_chr9:1035597-1038637_adipose
25	lnc-DMRT2-1	chr9:1046079-1047957	NONHSAT129961
26	lnc-DMRT2-1	chr9:1046579-1046776	XLOC_007262
27	lnc-DMRT3-5	chr9:1050356-1050482	NONHSAT129963
28	lnc-KANK1-1	chr9:748000-751056	NONHSAT129937
29	lnc-DMRT2-1	chr9:1048594-1048638	NONHSAT129961
30	lnc-C9orf66-5	chr9:755232-755507	XLOC_007629
31	lnc-DMRT3-5	chr9:1051571-1051622	NONHSAT129963
32	lnc-C9orf66-4	chr9:747413-747469	XLOC_007628
33	lnc-C9orf66-4	chr9:747413-747469	XLOC_007628
34	lnc-DMRT2-1	chr9:1047151-1048732	XLOC_007262
35	lnc-C9orf66-3	chr9:673817-674379	ENSG00000227914.1
36	lnc-DMRT2-1	chr9:1047151-1048732	XLOC_007262
37	lnc-DMRT2-3	chr9:1036576-1036776	l_3724_chr9:1035597-1038637_adipose
38	lnc-DMRT3-3	chr9:959154-959514	uc_247_+
39	lnc-DMRT2-1	chr9:1048594-1048630	XLOC_007262
40	lnc-C9orf66-4	chr9:749336-749496	XLOC_007628
41	lnc-DMRT2-1	chr9:1045834-1046069	XLOC_007262
42	lnc-C9orf66-3	chr9:685528-685555	ENSG00000227914.3
43	lnc-KANK1-1	chr9:746431-746497	NONHSAT129937
44	lnc-DMRT2-1	chr9:1045426-1045800	XLOC_007262
45	lnc-C9orf66-11	chr9:1031219-1031345	NONHSAT129957
46	lnc-C9orf66-3	chr9:685528-685555	ENSG00000227914.1
47	lnc-C9orf66-3	chr9:673478-674379	ENSG00000227914.3
48	lnc-C9orf66-5	chr9:752722-752856	XLOC_007629
49	lnc-C9orf66-10	chr9:964189-964410	uc_248_-

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-124-3p	chr9:746043-746062
3	KANK1	hsa-miR-124-3p	chr9:746055-746062
4	KANK1	hsa-miR-335-5p	chr9:746085-746104
5	KANK1	hsa-miR-335-5p	chr9:746049-746071

Variant related genes	Relation type
DMRT2	TF binding region
ENSG00000228783	TF binding region
ENSG00000227914	TF binding region
RNU6-1073P	TF binding region
KANK1	TF binding region
ENSG00000229875	TF binding region
DMRT3	TF binding region
DMRT1	TF binding region
DMRT2	CpG island
ENSG00000228783	CpG island
ENSG00000227914	CpG island
RNU6-1073P	CpG island
KANK1	CpG island
ENSG00000229875	CpG island
DMRT3	CpG island
DMRT1	CpG island
ENSG00000227914	chromatin interactions
ENSG00000064218	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000252991	chromatin interactions
ENSG00000108557	chromatin interactions
ENSG00000173253	chromatin interactions
ENSG00000107104	chromatin interactions
SOD2	miRNA target sites
PPM1A	miRNA target sites
FAM123B	miRNA target sites
PPARA	miRNA target sites
PPARG	miRNA target sites
PSMA2	miRNA target sites

Extended variants
information (count: 19701 )
Associated
traits (count: 119 )

Variant overlapped rSNPs/rCNVs (count:19701 , 50 per page) page: 1 2 3 4 5 6 7 ... 395

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16921615	chr9:643453-643454	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs186983625	chr9:643474-643475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs369619698	chr9:643503-643504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs535809422	chr9:643509-643510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs377420736	chr9:643536-643537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs76892115	chr9:643557-643558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs10975548	chr9:643567-643568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs191598926	chr9:643570-643571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs78648419	chr9:643599-643600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs113831402	chr9:643624-643625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs80029280	chr9:643656-643657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs548398688	chr9:643685-643686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs183742556	chr9:643693-643694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs375132139	chr9:643700-643701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs28742113	chr9:643701-643702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs116266126	chr9:643708-643709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs28514478	chr9:643709-643710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs28390232	chr9:643712-643713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs189594893	chr9:643714-643715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs577948479	chr9:643762-643763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs577127664	chr9:643810-643811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs549385480	chr9:643848-643849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs568776283	chr9:643864-643865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs62530088	chr9:643873-643874	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs557715319	chr9:643923-643924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs556703572	chr9:643929-643930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs376698259	chr9:643932-643933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs193056624	chr9:643947-643948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs565548847	chr9:643949-643950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs111943770	chr9:643960-643961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs111407883	chr9:643980-643981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs76980872	chr9:644018-644019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs190049284	chr9:644032-644033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs181612773	chr9:644036-644037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs76887683	chr9:644045-644046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs186528626	chr9:644046-644047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs9407329	chr9:644079-644080	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs375626258	chr9:644083-644084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs147736937	chr9:644103-644104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs140737305	chr9:644115-644116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs79342783	chr9:644165-644166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs564309642	chr9:644173-644174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs561731146	chr9:644195-644196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs533350914	chr9:644206-644207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs530941690	chr9:644221-644222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs544297364	chr9:644244-644245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs80306981	chr9:644252-644253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs115456302	chr9:644259-644260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs377185227	chr9:644279-644280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs546981775	chr9:644303-644304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:119)

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
Non-small cell lung cancer	16651412	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-syndromic sensorineural hearing loss	18451855	CNVD
Ovarian cancer	21781307	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Autism	22495311	CNVD

Chromatin state (count:8196 , 50 per page) page: 1 2 3 4 5 6 7 ... 164

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:616800-655800	Weak transcription	Pancreas	Pancrea
2	chr9:628800-649400	Weak transcription	Duodenum Mucosa	Duodenum
3	chr9:632200-648600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr9:634400-648600	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr9:634400-649000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr9:634600-647600	Weak transcription	A549	lung
7	chr9:634600-648800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr9:635000-650400	Weak transcription	Fetal Intestine Small	intestine
9	chr9:635200-648600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr9:635200-649800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr9:635400-649400	Weak transcription	Right Atrium	heart
12	chr9:635600-649600	Weak transcription	Left Ventricle	heart
13	chr9:637600-648400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr9:638600-647000	Weak transcription	Aorta	Aorta
15	chr9:638600-649600	Weak transcription	Right Ventricle	heart
16	chr9:639000-644000	Weak transcription	Small Intestine	intestine
17	chr9:641600-644800	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr9:641800-644200	Enhancers	Colon Smooth Muscle	Colon
19	chr9:642400-643600	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr9:642600-644000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr9:642600-648800	Weak transcription	Brain Anterior Caudate	brain
22	chr9:642800-648600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr9:642800-648600	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr9:643000-644000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr9:643000-644600	Enhancers	Fetal Heart	heart
26	chr9:643000-648800	Weak transcription	HMEC	breast
27	chr9:643200-650400	Weak transcription	HSMMtube	muscle
28	chr9:643400-647400	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr9:643400-648800	Weak transcription	Rectal Smooth Muscle	rectum
30	chr9:644000-644800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr9:644000-644800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr9:644200-648200	Weak transcription	Colon Smooth Muscle	Colon
33	chr9:644600-644800	Enhancers	Esophagus	oesophagus
34	chr9:644600-646200	Enhancers	Primary B cells from peripheral blood	blood
35	chr9:644600-647000	Weak transcription	Fetal Heart	heart
36	chr9:644800-648600	Weak transcription	Esophagus	oesophagus
37	chr9:644800-649200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr9:644800-649200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr9:644800-649200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr9:646000-646200	Enhancers	Primary B cells from cord blood	blood
41	chr9:646200-648600	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr9:646200-648800	Weak transcription	Primary B cells from peripheral blood	blood
43	chr9:646200-649200	Weak transcription	Primary B cells from cord blood	blood
44	chr9:646400-652800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr9:647000-647200	Enhancers	Aorta	Aorta
46	chr9:647000-648800	Enhancers	Psoas Muscle	Psoas
47	chr9:647000-649400	Enhancers	Fetal Heart	heart
48	chr9:647200-649400	Weak transcription	Aorta	Aorta
49	chr9:647400-648000	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr9:648000-648800	Weak transcription	Skeletal Muscle Male	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links