Variant report

Variant	nsv1017252
Chromosome Location	chr9:386252-579791
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1815)
CpG islands
(count:793)
Chromatin interactive
region (count:70)
LncRNA
region (count:72)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1815 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:504390-504746	K562	blood:	n/a	n/a
2	ARID3A	chr9:463883-464115	HepG2	liver:	n/a	n/a
3	ARID3A	chr9:489187-489524	HepG2	liver:	n/a	n/a
4	ARID3A	chr9:495829-496174	HepG2	liver:	n/a	n/a
5	ATF1	chr9:491995-492195	K562	blood:	n/a	n/a
6	ATF1	chr9:428430-428702	K562	blood:	n/a	n/a
7	ATF3	chr9:557723-558324	A549	lung:	n/a	n/a
8	BACH1	chr9:561382-561724	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr9:505331-505595	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr9:503882-504954	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr9:503516-503574	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr9:470546-470746	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr9:557912-558114	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr9:450112-450344	H1-hESC	embryonic stem cell:	n/a	n/a
15	BCL3	chr9:470157-470838	A549	lung:	n/a	n/a
16	BCL3	chr9:557812-558394	A549	lung:	n/a	n/a
17	BCL3	chr9:469817-470210	A549	lung:	n/a	chr9:470121-470130
18	BCL3	chr9:561341-561682	GM12878	blood:	n/a	n/a
19	BCL3	chr9:489067-489648	A549	lung:	n/a	n/a
20	BCL3	chr9:463755-464226	A549	lung:	n/a	n/a
21	BCL3	chr9:503842-504488	A549	lung:	n/a	chr9:504175-504184 chr9:504327-504340 chr9:504456-504469
22	BCL3	chr9:561269-561869	A549	lung:	n/a	n/a
23	BCLAF1	chr9:469741-470596	GM12878	blood:	n/a	chr9:470121-470130
24	BHLHE40	chr9:504376-504833	GM12878	blood:	n/a	chr9:504430-504446 chr9:504607-504623 chr9:504604-504620 chr9:504606-504622
25	BHLHE40	chr9:567560-567673	GM12878	blood:	n/a	n/a
26	BHLHE40	chr9:463654-464244	HepG2	liver:	n/a	n/a
27	BHLHE40	chr9:439327-439591	HepG2	liver:	n/a	n/a
28	BHLHE40	chr9:546835-547287	K562	blood:	n/a	n/a
29	BHLHE40	chr9:469953-470590	GM12878	blood:	n/a	chr9:470115-470131
30	BHLHE40	chr9:470898-470911	GM12878	blood:	n/a	n/a
31	BHLHE40	chr9:470231-470621	K562	blood:	n/a	n/a
32	BHLHE40	chr9:503924-504891	K562	blood:	n/a	chr9:504430-504446 chr9:504607-504623 chr9:504604-504620 chr9:504606-504622
33	BHLHE40	chr9:494860-495111	HepG2	liver:	n/a	n/a
34	BRCA1	chr9:504440-504580	HepG2	liver:	n/a	n/a
35	CBX3	chr9:456299-456866	HCT-116	colon:	n/a	n/a
36	CCNT2	chr9:503997-505117	K562	blood:	n/a	chr9:504819-504828
37	CCNT2	chr9:469873-470321	K562	blood:	n/a	n/a
38	CEBPB	chr9:489250-490182	A549	lung:	n/a	n/a
39	CEBPB	chr9:416846-416891	H1-hESC	embryonic stem cell:	n/a	n/a
40	CEBPB	chr9:437611-438522	IMR90	lung:	n/a	chr9:437615-437626 chr9:437615-437626
41	CEBPB	chr9:450182-450402	Hela-S3	cervix:	n/a	n/a
42	CEBPB	chr9:530652-530956	A549	lung:	n/a	n/a
43	CEBPB	chr9:573656-573820	H1-hESC	embryonic stem cell:	n/a	n/a
44	CEBPB	chr9:561371-561765	A549	lung:	n/a	n/a
45	CEBPB	chr9:437428-438537	Hela-S3	cervix:	n/a	chr9:437615-437626 chr9:437615-437626
46	CEBPB	chr9:436525-436849	A549	lung:	n/a	chr9:436672-436681 chr9:436672-436683 chr9:436670-436681
47	CEBPB	chr9:389981-389982	A549	lung:	n/a	n/a
48	CEBPB	chr9:455601-455704	K562	blood:	n/a	chr9:455645-455658 chr9:455645-455658 chr9:455647-455658 chr9:455645-455658
49	CEBPB	chr9:504299-504587	Hela-S3	cervix:	n/a	n/a
50	CEBPB	chr9:436508-436820	HepG2	liver:	n/a	chr9:436672-436681 chr9:436672-436683 chr9:436670-436681

(count:793 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:469777-469827	GM12892	blood:	n/a
2	chr9:507411-507461	K562	blood:	n/a
3	chr9:426894-426944	Hepatocyte	liver:	n/a
4	chr9:470323-470373	HEEpiC	esophagus:	n/a
5	chr9:505721-505771	GM12892	blood:	n/a
6	chr9:505235-505285	GM12892	blood:	n/a
7	chr9:574312-574362	AG09309	skin:	n/a
8	chr9:472966-473016	GM06990	blood:	n/a
9	chr9:505571-505621	HAEpiC	amniotic membrane:	n/a
10	chr9:470109-470159	GM12878	blood:	n/a
11	chr9:470323-470373	BE2_C	brain:	n/a
12	chr9:470109-470159	SK-N-SH	brain:	n/a
13	chr9:472966-473016	NB4	blood:	n/a
14	chr9:503937-503987	Caco-2	colon:	n/a
15	chr9:505721-505771	PrEC	prostate:	n/a
16	chr9:471920-471970	RPTEC	kidney:	n/a
17	chr9:472966-473016	NHDF-neo	bronchial:	n/a
18	chr9:470323-470373	CMK	blood:	n/a
19	chr9:470323-470373	AG09309	skin:	n/a
20	chr9:505235-505285	BJ	skin:	n/a
21	chr9:471920-471970	GM12891	blood:	n/a
22	chr9:472966-473016	Hepatocyte	liver:	n/a
23	chr9:505721-505771	Hela-S3	cervix:	n/a
24	chr9:574312-574362	HCM	heart:	n/a
25	chr9:471920-471970	HRE	kidney:	n/a
26	chr9:472966-473016	HCF	heart:	n/a
27	chr9:507411-507461	HRE	kidney:	n/a
28	chr9:505571-505621	HMEC	breast:	n/a
29	chr9:505571-505621	U87	brain:	n/a
30	chr9:505571-505621	IMR90	lung:	fetal
31	chr9:504774-504824	AG04450	lung:	fetal
32	chr9:574312-574362	BJ	skin:	n/a
33	chr9:505571-505621	AoSMC	blood vessel:	n/a
34	chr9:505721-505771	AG09319	gingival:	n/a
35	chr9:470109-470159	MCF10A-Er-Src	breast:	n/a
36	chr9:505571-505621	GM19239	blood:	n/a
37	chr9:574312-574362	U87	brain:	n/a
38	chr9:505571-505621	ProgFib	skin:	n/a
39	chr9:504774-504824	AG09319	gingival:	n/a
40	chr9:503937-503987	HPAEpiC	pulmonary alveolar:	n/a
41	chr9:472966-473016	GM19239	blood:	n/a
42	chr9:507411-507461	GM12878	blood:	n/a
43	chr9:505235-505285	GM12891	blood:	n/a
44	chr9:472966-473016	SAEC	small airway:	n/a
45	chr9:505721-505771	NH-A	brain:	n/a
46	chr9:472966-473016	A549	lung:	n/a
47	chr9:504774-504824	Hepatocyte	liver:	n/a
48	chr9:504774-504824	BE2_C	brain:	n/a
49	chr9:470323-470373	SK-N-SH	brain:	n/a
50	chr9:505571-505621	GM12878	blood:	n/a

(count:70 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr9:530586..533539-chr9:534026..536380,2	MCF-7	breast:
2	chr1:23494875..23495400-chr9:469098..469749,2	NB4	blood:
3	chr9:385756..386457-chr9:1008777..1009377,2	MCF-7	breast:
4	chr9:468830..470676-chr9:503247..506779,4	MCF-7	breast:
5	chr9:495605..498122-chr9:502386..505122,3	MCF-7	breast:
6	chr9:494848..496689-chr9:501659..504144,2	MCF-7	breast:
7	chr9:385566..386417-chr9:764222..764740,2	MCF-7	breast:
8	chr9:454476..456616-chr9:461041..463916,2	MCF-7	breast:
9	chr9:459270..461586-chr9:468346..470515,2	MCF-7	breast:
10	chr9:468995..471572-chr9:503851..506185,2	MCF-7	breast:
11	chr9:438728..443718-chr9:444221..448963,4	K562	blood:
12	chr9:490052..492255-chr9:502875..504712,2	MCF-7	breast:
13	chr9:468933..471416-chr9:484729..487754,3	MCF-7	breast:
14	chr9:469326..471004-chr9:547085..549851,2	MCF-7	breast:
15	chr9:490701..492635-chr9:494682..497058,2	K562	blood:
16	chr9:469974..471479-chr9:511045..512830,2	K562	blood:
17	chr9:500269..502662-chr9:502681..505040,2	MCF-7	breast:
18	chr9:385494..386481-chr9:546680..547596,3	MCF-7	breast:
19	chr9:459270..461586-chr9:468346..470515,2	MCF-7	breast:
20	chr9:469326..471004-chr9:547085..549851,2	MCF-7	breast:
21	chr9:441366..444017-chr9:451304..454209,2	MCF-7	breast:
22	chr9:468995..471572-chr9:503851..506185,2	MCF-7	breast:
23	chr9:494848..496689-chr9:501659..504144,2	MCF-7	breast:
24	chr9:555602..557901-chr9:561314..563396,2	K562	blood:
25	chr9:418287..419917-chr9:426635..429458,2	MCF-7	breast:
26	chr9:454517..457686-chr9:460777..463722,3	K562	blood:
27	chr1:43147839..43148507-chr9:470046..470650,2	NB4	blood:
28	chr9:504296..504898-chr9:21802481..21802992,2	HCT-116	colon:
29	chr9:385679..386467-chr9:459526..460401,4	MCF-7	breast:
30	chr9:487771..490019-chr9:514331..516293,2	MCF-7	breast:
31	chr9:512039..514160-chr9:515791..519174,3	K562	blood:
32	chr9:418287..419917-chr9:426635..429458,2	MCF-7	breast:
33	chr9:470985..473419-chr9:489407..491415,2	MCF-7	breast:
34	chr9:535330..537087-chr9:549296..551126,2	K562	blood:
35	chr10:74033442..74034170-chr9:469881..470831,2	NB4	blood:
36	chr9:452598..454624-chr9:456757..459664,2	MCF-7	breast:
37	chr9:457391..459101-chr9:460366..462265,2	MCF-7	breast:
38	chr9:518740..521510-chr9:531283..533605,2	MCF-7	breast:
39	chr9:535330..537087-chr9:549296..551126,2	K562	blood:
40	chr9:385596..386468-chr9:546637..547164,2	MCF-7	breast:
41	chr9:387700..389795-chr9:395557..397565,2	MCF-7	breast:
42	chr9:438728..443718-chr9:444221..448963,4	K562	blood:
43	chr9:441366..444017-chr9:451304..454209,2	MCF-7	breast:
44	chr9:396391..399763-chr9:403196..405645,3	K562	blood:
45	chr12:21809676..21810203-chr9:455132..455632,2	NB4	blood:
46	chr9:385596..386468-chr9:546637..547164,2	MCF-7	breast:
47	chr9:396391..399763-chr9:403196..405645,3	K562	blood:
48	chr1:27191066..27191830-chr9:408050..409042,2	NB4	blood:
49	chr9:462619..465055-chr9:466811..469681,2	K562	blood:
50	chr9:518740..521510-chr9:531283..533605,2	MCF-7	breast:

(count:72 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C9orf66-2	chr9:465962-466069	ENSG00000227155.3
2	lnc-C9orf66-8	chr9:507258-507553	NONHSAT129930
3	lnc-DOCK8-5	chr9:473194-473273	NONHSAT129927
4	lnc-C9orf66-2	chr9:456201-456703	ENSG00000227155.3
5	lnc-C9orf66-2	chr9:465962-466069	ENSG00000227155.3
6	lnc-DOCK8-5	chr9:471449-471586	NONHSAT129926
7	lnc-C9orf66-2	chr9:456530-456703	ENSG00000227155.3
8	lnc-DOCK8-2	chr9:549107-549531	ENSG00000226403.1
9	lnc-C9orf66-2	chr9:465962-466069	ENSG00000227155.3
10	lnc-C9orf66-2	chr9:469722-469802	ENSG00000227155.3
11	lnc-C9orf66-2	chr9:470765-470961	ENSG00000227155.3
12	lnc-C9orf66-2	chr9:458370-458423	ENSG00000227155.3
13	lnc-C9orf66-2	chr9:466688-467219	ENSG00000227155.3
14	lnc-C9orf66-2	chr9:456915-457047	ENSG00000227155.3
15	lnc-DOCK8-1	chr9:495238-495610	ENSG00000228115.1
16	lnc-C9orf66-2	chr9:456521-456703	ENSG00000227155.3
17	lnc-DOCK8-5	chr9:476628-476769	NONHSAT129927
18	lnc-C9orf66-2	chr9:456201-456358	ENSG00000227155.1
19	lnc-C9orf66-2	chr9:466900-467336	ENSG00000227155.3
20	lnc-C9orf66-7	chr9:503057-504746	NONHSAT129929
21	lnc-C9orf66-2	chr9:459716-460507	ENSG00000227155.3
22	lnc-DOCK8-2	chr9:547317-547341	ENSG00000226403.1
23	lnc-C9orf66-2	chr9:456915-457047	ENSG00000227155.3
24	lnc-DOCK8-2	chr9:549107-549525	NONHSAT129931
25	lnc-C9orf66-2	chr9:456915-457047	ENSG00000227155.3
26	lnc-C9orf66-2	chr9:459716-459866	ENSG00000227155.3
27	lnc-DOCK8-5	chr9:473194-473273	NONHSAT129926
28	lnc-C9orf66-2	chr9:459716-459866	ENSG00000227155.3
29	lnc-C9orf66-2	chr9:457004-457047	ENSG00000227155.3
30	lnc-C9orf66-2	chr9:454576-454606	ENSG00000227155.3
31	lnc-C9orf66-2	chr9:459716-459866	ENSG00000227155.3
32	lnc-C9orf66-2	chr9:456545-456703	ENSG00000227155.3
33	lnc-C9orf66-2	chr9:456201-456703	ENSG00000227155.3
34	lnc-C9orf66-2	chr9:454457-454606	ENSG00000227155.3
35	lnc-DOCK8-5	chr9:470592-470677	NONHSAT129926
36	lnc-C9orf66-2	chr9:466688-466866	ENSG00000227155.3
37	lnc-C9orf66-2	chr9:465962-466069	ENSG00000227155.3
38	lnc-C9orf66-2	chr9:454304-454606	ENSG00000227155.3
39	lnc-C9orf66-2	chr9:456201-456703	ENSG00000227155.3
40	lnc-C9orf66-2	chr9:466688-466853	ENSG00000227155.3
41	lnc-C9orf66-2	chr9:454304-454606	ENSG00000227155.1
42	lnc-C9orf66-2	chr9:469722-469802	ENSG00000227155.3
43	lnc-C9orf66-2	chr9:488957-489066	ENSG00000227155.3
44	lnc-C9orf66-2	chr9:456201-456703	ENSG00000227155.3
45	lnc-DOCK8-1	chr9:487774-487803	ENSG00000228115.1
46	lnc-C9orf66-2	chr9:470765-470934	ENSG00000227155.3
47	lnc-C9orf66-2	chr9:456204-456703	ENSG00000227155.3
48	lnc-C9orf66-2	chr9:470765-470816	ENSG00000227155.3
49	lnc-DOCK8-2	chr9:547038-547341	NONHSAT129931
50	lnc-DOCK8-2	chr9:547318-547341	ENSG00000226403.1

No data

Variant related genes	Relation type
ENSG00000226403	TF binding region
DOCK8	TF binding region
RNU6-1327P	TF binding region
ENSG00000227155	TF binding region
RN7SL412P	TF binding region
KANK1	TF binding region
ENSG00000235330	TF binding region
ENSG00000228115	TF binding region
ENSG00000226403	CpG island
DOCK8	CpG island
RNU6-1327P	CpG island
ENSG00000227155	CpG island
RN7SL412P	CpG island
KANK1	CpG island
ENSG00000235330	CpG island
ENSG00000228115	CpG island
ENSG00000226403	chromatin interactions
ENSG00000074603	chromatin interactions
ENSG00000065978	chromatin interactions
ENSG00000107099	chromatin interactions
ENSG00000264545	chromatin interactions
ENSG00000227155	chromatin interactions
ENSG00000169641	chromatin interactions
ENSG00000168209	chromatin interactions
ENSG00000228115	chromatin interactions
ENSG00000099810	chromatin interactions
ENSG00000107104	chromatin interactions
ENSG00000235330	chromatin interactions

Extended variants
information (count: 10635 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:10635 , 50 per page) page: 1 2 3 4 5 6 7 ... 213

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550312284	chr9:386253-386254	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs375747541	chr9:386264-386265	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs111252266	chr9:386275-386276	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs369245715	chr9:386298-386299	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs180712558	chr9:386300-386301	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs371502513	chr9:386333-386334	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs138628834	chr9:386334-386335	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs375198959	chr9:386336-386337	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs201750887	chr9:386341-386342	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs368337642	chr9:386342-386343	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs369447067	chr9:386365-386366	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs531620077	chr9:386388-386389	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs551786936	chr9:386405-386406	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs117610764	chr9:386414-386415	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs201366829	chr9:386426-386427	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs373063419	chr9:386443-386444	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs368650642	chr9:386461-386462	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs534072682	chr9:386464-386465	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs547573866	chr9:386522-386523	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567530741	chr9:386545-386546	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs12337427	chr9:386552-386553	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs7862253	chr9:386556-386557	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs12551444	chr9:386559-386560	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs537430284	chr9:386586-386587	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs557765924	chr9:386587-386588	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs577810881	chr9:386588-386589	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs372941953	chr9:386649-386650	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7862373	chr9:386679-386680	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs142023313	chr9:386682-386683	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565134999	chr9:386691-386692	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs186347779	chr9:386747-386748	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs142209420	chr9:386750-386751	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs10814599	chr9:386765-386766	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs150685401	chr9:386772-386773	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547658371	chr9:386875-386876	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs551480526	chr9:386881-386882	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs190991692	chr9:386888-386889	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs527740788	chr9:386910-386911	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs138728434	chr9:386947-386948	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs553302788	chr9:386948-386949	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567491686	chr9:386981-386982	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536000111	chr9:387000-387001	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs183178878	chr9:387013-387014	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs201489402	chr9:387049-387050	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs149339352	chr9:387061-387062	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs573284136	chr9:387088-387089	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs539106068	chr9:387124-387125	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs570234541	chr9:387202-387203	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113095341	chr9:387203-387204	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs557460308	chr9:387209-387210	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:120)

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
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
Renal cell carcinoma	21215367	CNVD
Schizophrenia	20967226	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-syndromic sensorineural hearing loss	17122850	CNVD
Non-small cell lung cancer	16651412	CNVD

Chromatin state (count:3899 , 50 per page) page: 1 2 3 4 5 6 7 ... 78

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:322400-412200	Strong transcription	Primary T cells from cord blood	blood
2	chr9:322400-447000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr9:322400-467200	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr9:322400-467200	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr9:323600-467200	Strong transcription	Primary B cells from cord blood	blood
6	chr9:350400-411200	Strong transcription	Primary B cells from peripheral blood	blood
7	chr9:351200-412400	Strong transcription	Primary T cells fromperipheralblood	blood
8	chr9:351200-446600	Strong transcription	Primary T helper cells fromperipheralblood	blood
9	chr9:352000-446600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr9:352200-411000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr9:357600-467000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr9:358000-444800	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr9:360400-412200	Strong transcription	Fetal Thymus	thymus
14	chr9:360400-412400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr9:360600-410800	Strong transcription	Dnd41	blood
16	chr9:360600-412400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr9:360800-403600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr9:362000-409400	Strong transcription	Thymus	Thymus
19	chr9:362200-411000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr9:365800-387000	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr9:366400-468400	Weak transcription	Small Intestine	intestine
22	chr9:367400-387200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
23	chr9:370800-408200	Weak transcription	Fetal Muscle Trunk	muscle
24	chr9:371600-418600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr9:372400-420400	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr9:372600-387600	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr9:372600-402200	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr9:377000-386400	Weak transcription	K562	blood
29	chr9:377000-392400	Weak transcription	Fetal Intestine Small	intestine
30	chr9:377200-389800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr9:377200-392400	Weak transcription	Fetal Intestine Large	intestine
32	chr9:377400-390600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr9:377400-400800	Weak transcription	Colonic Mucosa	Colon
34	chr9:377800-389000	Weak transcription	Stomach Mucosa	stomach
35	chr9:378200-409400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr9:378600-410600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr9:378600-411000	Strong transcription	Primary T helper cells PMA-I stimulated	--
38	chr9:378600-420000	Weak transcription	Esophagus	oesophagus
39	chr9:379200-401000	Weak transcription	Fetal Muscle Leg	muscle
40	chr9:379800-437000	Weak transcription	Rectal Smooth Muscle	rectum
41	chr9:380000-389800	Weak transcription	Fetal Stomach	stomach
42	chr9:380000-390200	Weak transcription	Lung	lung
43	chr9:380000-394400	Weak transcription	Pancreas	Pancrea
44	chr9:380200-401200	Weak transcription	Fetal Lung	lung
45	chr9:382600-386400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr9:382600-399200	Weak transcription	Gastric	stomach
47	chr9:382800-390400	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr9:383000-390400	Weak transcription	Duodenum Mucosa	Duodenum
49	chr9:383200-386400	Weak transcription	Placenta	Placenta
50	chr9:384200-412200	Strong transcription	Primary hematopoietic stem cells	blood

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