Variant report

Variant	nsv891980
Chromosome Location	chr9:484850-686301
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2299)
CpG islands
(count:427)
Chromatin interactive
region (count:61)
LncRNA
region (count:21)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2299 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:489187-489524	HepG2	liver:	n/a	n/a
2	ARID3A	chr9:504390-504746	K562	blood:	n/a	n/a
3	ARID3A	chr9:495829-496174	HepG2	liver:	n/a	n/a
4	ARID3A	chr9:673768-674544	HepG2	liver:	n/a	n/a
5	ARID3A	chr9:682346-683925	HepG2	liver:	n/a	n/a
6	ARID3A	chr9:592251-592433	HepG2	liver:	n/a	n/a
7	ARID3A	chr9:685087-685396	HepG2	liver:	n/a	n/a
8	ARID3A	chr9:672953-673149	HepG2	liver:	n/a	n/a
9	ARID3A	chr9:613790-614724	HepG2	liver:	n/a	n/a
10	ARID3A	chr9:676651-678350	HepG2	liver:	n/a	n/a
11	ATF1	chr9:491995-492195	K562	blood:	n/a	n/a
12	ATF3	chr9:557723-558324	A549	lung:	n/a	n/a
13	BACH1	chr9:561382-561724	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr9:557912-558114	H1-hESC	embryonic stem cell:	n/a	n/a
15	BACH1	chr9:505331-505595	H1-hESC	embryonic stem cell:	n/a	n/a
16	BACH1	chr9:674115-674612	H1-hESC	embryonic stem cell:	n/a	n/a
17	BACH1	chr9:503516-503574	H1-hESC	embryonic stem cell:	n/a	n/a
18	BACH1	chr9:652937-653241	H1-hESC	embryonic stem cell:	n/a	n/a
19	BACH1	chr9:503882-504954	H1-hESC	embryonic stem cell:	n/a	n/a
20	BCL11A	chr9:674131-674488	H1-hESC	embryonic stem cell:	n/a	n/a
21	BCL11A	chr9:674204-674357	H1-hESC	embryonic stem cell:	n/a	n/a
22	BCL3	chr9:557812-558394	A549	lung:	n/a	n/a
23	BCL3	chr9:561269-561869	A549	lung:	n/a	n/a
24	BCL3	chr9:489067-489648	A549	lung:	n/a	n/a
25	BCL3	chr9:503842-504488	A549	lung:	n/a	chr9:504175-504184 chr9:504327-504340 chr9:504456-504469
26	BCL3	chr9:561341-561682	GM12878	blood:	n/a	n/a
27	BHLHE40	chr9:567560-567673	GM12878	blood:	n/a	n/a
28	BHLHE40	chr9:504376-504833	GM12878	blood:	n/a	chr9:504430-504446 chr9:504607-504623 chr9:504604-504620 chr9:504606-504622
29	BHLHE40	chr9:614452-614687	HepG2	liver:	n/a	n/a
30	BHLHE40	chr9:682623-683064	HepG2	liver:	n/a	n/a
31	BHLHE40	chr9:629150-629515	GM12878	blood:	n/a	n/a
32	BHLHE40	chr9:494860-495111	HepG2	liver:	n/a	n/a
33	BHLHE40	chr9:546835-547287	K562	blood:	n/a	n/a
34	BHLHE40	chr9:503924-504891	K562	blood:	n/a	chr9:504430-504446 chr9:504607-504623 chr9:504604-504620 chr9:504606-504622
35	BHLHE40	chr9:682578-683474	HepG2	liver:	n/a	n/a
36	BRCA1	chr9:613818-614198	Hela-S3	cervix:	n/a	n/a
37	BRCA1	chr9:504440-504580	HepG2	liver:	n/a	n/a
38	CCNT2	chr9:503997-505117	K562	blood:	n/a	chr9:504819-504828
39	CEBPB	chr9:599945-600321	H1-hESC	embryonic stem cell:	n/a	chr9:600087-600098 chr9:600123-600134
40	CEBPB	chr9:599921-600405	A549	lung:	n/a	chr9:600087-600098 chr9:600123-600134
41	CEBPB	chr9:683617-683941	A549	lung:	n/a	chr9:683771-683782
42	CEBPB	chr9:561474-561777	MCF-7	breast:	n/a	n/a
43	CEBPB	chr9:599844-600456	A549	lung:	n/a	chr9:600087-600098 chr9:600123-600134
44	CEBPB	chr9:599943-600381	IMR90	lung:	n/a	chr9:600087-600098 chr9:600123-600134
45	CEBPB	chr9:650475-650734	HepG2	liver:	n/a	chr9:650606-650617
46	CEBPB	chr9:530695-530959	Hela-S3	cervix:	n/a	n/a
47	CEBPB	chr9:682501-683161	HepG2	liver:	n/a	n/a
48	CEBPB	chr9:589903-590000	H1-hESC	embryonic stem cell:	n/a	n/a
49	CEBPB	chr9:561371-561765	A549	lung:	n/a	n/a
50	CEBPB	chr9:647187-647486	HepG2	liver:	n/a	n/a

(count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:505571-505621	HCF	heart:	n/a
2	chr9:507411-507461	NH-A	brain:	n/a
3	chr9:505721-505771	AG09309	skin:	n/a
4	chr9:503937-503987	AG09319	gingival:	n/a
5	chr9:507411-507461	Caco-2	colon:	n/a
6	chr9:574312-574362	GM06990	blood:	n/a
7	chr9:507411-507461	K562	blood:	n/a
8	chr9:574312-574362	SK-N-MC	brain:	n/a
9	chr9:574312-574362	AG09309	skin:	n/a
10	chr9:503937-503987	HCF	heart:	n/a
11	chr9:505571-505621	HCPEpiC	choroid plexus:	n/a
12	chr9:504774-504824	IMR90	lung:	fetal
13	chr9:505235-505285	HCPEpiC	choroid plexus:	n/a
14	chr9:504774-504824	GM12878	blood:	n/a
15	chr9:503937-503987	HIPEpiC	eye:	n/a
16	chr9:505721-505771	Caco-2	colon:	n/a
17	chr9:505721-505771	PFSK-1	brain:	n/a
18	chr9:504774-504824	GM19239	blood:	n/a
19	chr9:503937-503987	HUVEC	blood vessel:	n/a
20	chr9:504774-504824	K562	blood:	n/a
21	chr9:503937-503987	MCF10A-Er-Src	breast:	n/a
22	chr9:503937-503987	HRE	kidney:	n/a
23	chr9:505235-505285	HMEC	breast:	n/a
24	chr9:503937-503987	K562	blood:	n/a
25	chr9:504774-504824	HAEpiC	amniotic membrane:	n/a
26	chr9:505235-505285	HRCEpiC	kidney:	n/a
27	chr9:505721-505771	HCT-116	colon:	n/a
28	chr9:574312-574362	HPAEpiC	pulmonary alveolar:	n/a
29	chr9:504774-504824	SK-N-SH_RA	brain:	n/a
30	chr9:505721-505771	HRCEpiC	kidney:	n/a
31	chr9:503937-503987	HNPCEpiC	eye:	n/a
32	chr9:503937-503987	Jurkat	blood:	n/a
33	chr9:505571-505621	Jurkat	blood:	n/a
34	chr9:504774-504824	GM12891	blood:	n/a
35	chr9:504774-504824	HEK293	kidney:	embryo
36	chr9:505721-505771	SK-N-SH_RA	brain:	n/a
37	chr9:505571-505621	Hepatocyte	liver:	n/a
38	chr9:505721-505771	BJ	skin:	n/a
39	chr9:505721-505771	AG09319	gingival:	n/a
40	chr9:503937-503987	ProgFib	skin:	n/a
41	chr9:504774-504824	HNPCEpiC	eye:	n/a
42	chr9:504774-504824	NHDF-neo	bronchial:	n/a
43	chr9:505571-505621	MCF-7	breast:	n/a
44	chr9:507411-507461	HRPEpiC	eye:	n/a
45	chr9:503937-503987	SK-N-SH	brain:	n/a
46	chr9:505235-505285	HPAEpiC	pulmonary alveolar:	n/a
47	chr9:503937-503987	HEEpiC	esophagus:	n/a
48	chr9:504774-504824	BE2_C	brain:	n/a
49	chr9:507411-507461	HCPEpiC	choroid plexus:	n/a
50	chr9:507411-507461	LNCaP	prostate:	n/a

(count:61 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr9:613586..614504-chr9:756894..758172,6	MCF-7	breast:
2	chr9:490701..492635-chr9:494682..497058,2	K562	blood:
3	chr9:468830..470676-chr9:503247..506779,4	MCF-7	breast:
4	chr9:613714..614307-chr9:893592..894180,2	MCF-7	breast:
5	chr9:523311..524277-chr9:542856..543632,2	MCF-7	breast:
6	chr9:581438..583645-chr9:586871..590074,4	MCF-7	breast:
7	chr9:634722..638024-chr9:640128..643682,5	MCF-7	breast:
8	chr9:385596..386468-chr9:546637..547164,2	MCF-7	breast:
9	chr9:523311..524277-chr9:542856..543632,2	MCF-7	breast:
10	chr9:535330..537087-chr9:549296..551126,2	K562	blood:
11	chr9:640721..642302-chr9:644961..647354,2	K562	blood:
12	chr9:613650..614569-chr9:806256..807252,7	MCF-7	breast:
13	chr9:490052..492255-chr9:502875..504712,2	MCF-7	breast:
14	chr9:530586..533539-chr9:534026..536380,2	MCF-7	breast:
15	chr9:518740..521510-chr9:531283..533605,2	MCF-7	breast:
16	chr9:613026..614583-chr9:763698..764753,25	MCF-7	breast:
17	chr9:468995..471572-chr9:503851..506185,2	MCF-7	breast:
18	chr10:14227179..14227880-chr9:613613..614133,4	MCF-7	breast:
19	chr9:582031..585321-chr9:586707..590039,3	K562	blood:
20	chr9:680230..683179-chr9:683361..685450,2	MCF-7	breast:
21	chr9:535330..537087-chr9:549296..551126,2	K562	blood:
22	chr9:494848..496689-chr9:501659..504144,2	MCF-7	breast:
23	chr9:613518..614436-chr9:806263..806822,2	MCF-7	breast:
24	chr9:613814..614512-chr9:1017801..1018342,2	MCF-7	breast:
25	chr9:555602..557901-chr9:561314..563396,2	K562	blood:
26	chr9:512039..514160-chr9:515791..519174,3	K562	blood:
27	chr9:581168..581745-chr9:613579..614471,2	MCF-7	breast:
28	chr9:555602..557901-chr9:561314..563396,2	K562	blood:
29	chr9:581769..582694-chr9:763829..764743,4	MCF-7	breast:
30	chr9:385789..386423-chr9:612104..612846,2	K562	blood:
31	chr9:581649..582215-chr9:998516..999103,2	MCF-7	breast:
32	chr9:613644..614435-chr9:753933..755128,3	MCF-7	breast:
33	chr9:500269..502662-chr9:502681..505040,2	MCF-7	breast:
34	chr9:680963..683890-chr9:685859..688092,2	MCF-7	breast:
35	chr9:613541..614622-chr9:757205..758240,10	MCF-7	breast:
36	chr9:504296..504898-chr9:21802481..21802992,2	HCT-116	colon:
37	chr9:495605..498122-chr9:502386..505122,3	MCF-7	breast:
38	chr9:469974..471479-chr9:511045..512830,2	K562	blood:
39	chr9:512039..514160-chr9:515791..519174,3	K562	blood:
40	chr9:468933..471416-chr9:484729..487754,3	MCF-7	breast:
41	chr9:581860..582832-chr9:613640..614518,3	MCF-7	breast:
42	chr9:581821..582545-chr9:807512..808214,2	MCF-7	breast:
43	chr9:487771..490019-chr9:514331..516293,2	MCF-7	breast:
44	chr9:494848..496689-chr9:501659..504144,2	MCF-7	breast:
45	chr9:640721..642302-chr9:644961..647354,2	K562	blood:
46	chr9:680230..683179-chr9:683361..685450,2	MCF-7	breast:
47	chr9:582031..585321-chr9:586707..590039,3	K562	blood:
48	chr10:14226157..14227663-chr9:613613..615133,2	K562	blood:
49	chr9:470985..473419-chr9:489407..491415,2	MCF-7	breast:
50	chr9:581438..583645-chr9:586871..590074,4	MCF-7	breast:

(count:21 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DMRT1-3	chr9:659986-660326	NONHSAT129934
2	lnc-C9orf66-2	chr9:492084-492112	ENSG00000227155.3
3	lnc-DOCK8-2	chr9:547038-547341	NONHSAT129931
4	lnc-DOCK8-2	chr9:547318-547341	ENSG00000226403.1
5	lnc-C9orf66-7	chr9:503057-504746	NONHSAT129929
6	lnc-C9orf66-3	chr9:685528-685555	ENSG00000227914.3
7	lnc-C9orf66-3	chr9:673478-674379	ENSG00000227914.3
8	lnc-C9orf66-3	chr9:680857-681046	ENSG00000227914.3
9	lnc-C9orf66-3	chr9:685528-685555	ENSG00000227914.1
10	lnc-C9orf66-3	chr9:673817-674379	ENSG00000227914.1
11	lnc-DOCK8-2	chr9:549190-549531	ENSG00000226403.1
12	lnc-DOCK8-1	chr9:495238-495610	ENSG00000228115.1
13	lnc-C9orf66-3	chr9:677542-677628	ENSG00000227914.3
14	lnc-C9orf66-2	chr9:488957-489066	ENSG00000227155.3
15	lnc-C9orf66-3	chr9:674124-674379	ENSG00000227914.3
16	lnc-DOCK8-2	chr9:549107-549525	NONHSAT129931
17	lnc-DOCK8-1	chr9:487774-487803	ENSG00000228115.1
18	lnc-DOCK8-2	chr9:547317-547341	ENSG00000226403.1
19	lnc-C9orf66-3	chr9:680857-681046	ENSG00000227914.1
20	lnc-DOCK8-2	chr9:549107-549531	ENSG00000226403.1
21	lnc-C9orf66-8	chr9:507258-507553	NONHSAT129930

No data

Variant related genes	Relation type
ENSG00000226403	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
ENSG00000229875	TF binding region
ENSG00000226403	CpG island
RNU6-1327P	CpG island
RN7SL412P	CpG island
ENSG00000228115	CpG island
ENSG00000227914	CpG island
ENSG00000227155	CpG island
KANK1	CpG island
ENSG00000229875	CpG island
ENSG00000264545	chromatin interactions
ENSG00000228115	chromatin interactions
ENSG00000227155	chromatin interactions
ENSG00000107104	chromatin interactions
ENSG00000099810	chromatin interactions

Extended variants
information (count: 11750 )
Associated
traits (count: 117 )

Variant overlapped rSNPs/rCNVs (count:11750 , 50 per page) page: 1 2 3 4 5 6 7 ... 235

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10974769	chr9:484850-484851	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs59938367	chr9:484878-484879	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs542087635	chr9:484920-484921	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs557088074	chr9:484935-484936	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs575269184	chr9:484936-484937	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs562391364	chr9:484943-484944	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs573970073	chr9:484946-484947	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs575501418	chr9:484948-484949	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs543986786	chr9:484955-484956	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs148322388	chr9:484957-484958	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs562900619	chr9:484982-484983	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs528350380	chr9:485044-485045	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs368596991	chr9:485051-485052	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs142597182	chr9:485110-485111	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs372974053	chr9:485166-485167	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs188838459	chr9:485176-485177	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs377065252	chr9:485195-485196	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs115341676	chr9:485196-485197	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs181280222	chr9:485209-485210	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs78862334	chr9:485262-485263	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs76380706	chr9:485263-485264	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs78065682	chr9:485265-485266	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs369618331	chr9:485272-485273	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs548116603	chr9:485309-485310	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs568276076	chr9:485363-485364	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs145992712	chr9:485367-485368	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs4740798	chr9:485387-485388	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs570818633	chr9:485399-485400	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs139982049	chr9:485408-485409	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs185335386	chr9:485483-485484	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs376873440	chr9:485534-485535	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs573292358	chr9:485581-485582	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs189696239	chr9:485638-485639	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs181975295	chr9:485639-485640	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs575439133	chr9:485641-485642	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs187317585	chr9:485653-485654	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs73386727	chr9:485676-485677	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs568126307	chr9:485690-485691	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs564478988	chr9:485720-485721	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs377087702	chr9:485785-485786	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs576766707	chr9:485858-485859	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs58910749	chr9:485870-485871	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs200328587	chr9:485871-485872	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs541334400	chr9:485878-485879	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs560462140	chr9:485881-485882	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs200199010	chr9:485895-485896	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs374727515	chr9:485896-485897	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs113620805	chr9:485914-485915	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs545508181	chr9:485932-485933	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs555723801	chr9:485963-485964	Weak transcription	TF binding region Chromatin interactive region	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
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Schizophrenia	20967226	CNVD
Breast cancer	22522925	CNVD
Ependymoma	20639864	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-small cell lung cancer	16651412	CNVD
Cancer	21272361	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:4698 , 50 per page) page: 1 2 3 4 5 6 7 ... 94

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:471600-486000	Weak transcription	A549	lung
2	chr9:480800-487600	Weak transcription	Pancreas	Pancrea
3	chr9:484800-485200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
4	chr9:486000-486200	Active TSS	A549	lung
5	chr9:486200-486400	Enhancers	Stomach Mucosa	stomach
6	chr9:486200-486600	Flanking Active TSS	A549	lung
7	chr9:486200-495200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr9:486400-487600	Weak transcription	Stomach Mucosa	stomach
9	chr9:486600-488400	Enhancers	A549	lung
10	chr9:487600-488400	Enhancers	Pancreas	Pancrea
11	chr9:487600-489800	Enhancers	Stomach Mucosa	stomach
12	chr9:488000-488800	Enhancers	Gastric	stomach
13	chr9:488200-488400	Enhancers	Duodenum Mucosa	Duodenum
14	chr9:488200-488400	Enhancers	Lung	lung
15	chr9:488200-488400	Enhancers	Right Atrium	heart
16	chr9:488200-489600	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr9:488400-488800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr9:488400-489000	Flanking Active TSS	A549	lung
19	chr9:488400-490200	Weak transcription	Pancreas	Pancrea
20	chr9:488400-490400	Enhancers	Liver	Liver
21	chr9:488400-490400	Enhancers	HepG2	liver
22	chr9:488400-495400	Weak transcription	Right Atrium	heart
23	chr9:488600-490000	Enhancers	Fetal Lung	lung
24	chr9:488600-490600	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr9:488800-495800	Weak transcription	Gastric	stomach
26	chr9:489000-489400	Enhancers	A549	lung
27	chr9:489000-489600	Enhancers	Rectal Mucosa Donor 29	rectum
28	chr9:489200-489600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr9:489200-490600	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr9:489400-490400	Flanking Active TSS	A549	lung
31	chr9:489400-490400	Enhancers	HUVEC	blood vessel
32	chr9:489600-495200	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr9:489600-503200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr9:489800-490400	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr9:489800-494400	Weak transcription	Stomach Mucosa	stomach
36	chr9:490200-490600	Enhancers	Lung	lung
37	chr9:490200-491800	Enhancers	Pancreas	Pancrea
38	chr9:490400-490800	Enhancers	A549	lung
39	chr9:490600-494400	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr9:490600-494400	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr9:490800-494400	Weak transcription	A549	lung
42	chr9:491800-494600	Weak transcription	Pancreas	Pancrea
43	chr9:492000-492600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr9:492200-492600	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr9:492600-494600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr9:493200-493400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr9:493400-495400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr9:494400-494600	Enhancers	Sigmoid Colon	Sigmoid Colon
49	chr9:494400-495400	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr9:494400-496200	Enhancers	A549	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links