Variant report

Variant	nsv918092
Chromosome Location	chr9:229197-502446
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2542)
CpG islands
(count:427)
Chromatin interactive
region (count:160)
LncRNA
region (count:66)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2542 , 50 per page) page: 1 2 3 4 5 6 7 ... 51

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	chr9:272095-272522	K562	blood:	n/a	n/a
3	ARID3A	chr9:463883-464115	HepG2	liver:	n/a	n/a
4	ARID3A	chr9:371491-371553	K562	blood:	n/a	n/a
5	ARID3A	chr9:272758-273406	K562	blood:	n/a	chr9:273064-273079
6	ARID3A	chr9:260270-260544	K562	blood:	n/a	n/a
7	ARID3A	chr9:238911-239096	K562	blood:	n/a	n/a
8	ARID3A	chr9:336046-336405	HepG2	liver:	n/a	n/a
9	ARID3A	chr9:250210-251866	K562	blood:	n/a	n/a
10	ARID3A	chr9:267916-268404	K562	blood:	n/a	n/a
11	ARID3A	chr9:229136-229466	K562	blood:	n/a	n/a
12	ARID3A	chr9:237608-238477	K562	blood:	n/a	n/a
13	ARID3A	chr9:495829-496174	HepG2	liver:	n/a	n/a
14	ATF1	chr9:272150-272512	K562	blood:	n/a	n/a
15	ATF1	chr9:312958-313372	K562	blood:	n/a	n/a
16	ATF1	chr9:491995-492195	K562	blood:	n/a	n/a
17	ATF1	chr9:428430-428702	K562	blood:	n/a	n/a
18	ATF1	chr9:270753-271026	K562	blood:	n/a	n/a
19	ATF1	chr9:249153-249485	K562	blood:	n/a	n/a
20	ATF1	chr9:272781-273161	K562	blood:	n/a	n/a
21	ATF2	chr9:297286-297859	GM12878	blood:	n/a	n/a
22	ATF2	chr9:272677-273240	GM12878	blood:	n/a	n/a
23	ATF2	chr9:272650-273286	GM12878	blood:	n/a	n/a
24	ATF3	chr9:326568-327022	H1-hESC	embryonic stem cell:	n/a	n/a
25	ATF3	chr9:272081-272576	K562	blood:	n/a	n/a
26	BACH1	chr9:450112-450344	H1-hESC	embryonic stem cell:	n/a	n/a
27	BACH1	chr9:470546-470746	H1-hESC	embryonic stem cell:	n/a	n/a
28	BATF	chr9:297422-297902	GM12878	blood:	n/a	chr9:297684-297695 chr9:297685-297695
29	BATF	chr9:297420-297885	GM12878	blood:	n/a	chr9:297684-297695 chr9:297685-297695
30	BATF	chr9:278668-278987	GM12878	blood:	n/a	n/a
31	BCL11A	chr9:331212-331567	H1-hESC	embryonic stem cell:	n/a	n/a
32	BCL3	chr9:469817-470210	A549	lung:	n/a	chr9:470121-470130
33	BCL3	chr9:470157-470838	A549	lung:	n/a	n/a
34	BCL3	chr9:463755-464226	A549	lung:	n/a	n/a
35	BCL3	chr9:489067-489648	A549	lung:	n/a	n/a
36	BCLAF1	chr9:307023-307293	GM12878	blood:	n/a	n/a
37	BCLAF1	chr9:469741-470596	GM12878	blood:	n/a	chr9:470121-470130
38	BCLAF1	chr9:272658-273387	GM12878	blood:	n/a	chr9:272862-272871
39	BCLAF1	chr9:272677-273191	GM12878	blood:	n/a	chr9:272862-272871
40	BCLAF1	chr9:297343-297922	GM12878	blood:	n/a	chr9:297687-297696 chr9:297688-297697
41	BCLAF1	chr9:297419-297950	GM12878	blood:	n/a	chr9:297687-297696 chr9:297688-297697
42	BHLHE40	chr9:469953-470590	GM12878	blood:	n/a	chr9:470115-470131
43	BHLHE40	chr9:272179-272510	K562	blood:	n/a	n/a
44	BHLHE40	chr9:439327-439591	HepG2	liver:	n/a	n/a
45	BHLHE40	chr9:470898-470911	GM12878	blood:	n/a	n/a
46	BHLHE40	chr9:270725-270976	GM12878	blood:	n/a	n/a
47	BHLHE40	chr9:494860-495111	HepG2	liver:	n/a	n/a
48	BHLHE40	chr9:237901-238275	K562	blood:	n/a	chr9:238023-238044
49	BHLHE40	chr9:259627-260475	K562	blood:	n/a	n/a
50	BHLHE40	chr9:463654-464244	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	chr9:273072-273122	NHBE	bronchial:	n/a
2	chr9:472966-473016	Hepatocyte	liver:	n/a
3	chr9:470109-470159	GM19239	blood:	n/a
4	chr9:469777-469827	HRE	kidney:	n/a
5	chr9:470323-470373	HMEC	breast:	n/a
6	chr9:469777-469827	NHBE	bronchial:	n/a
7	chr9:426894-426944	K562	blood:	n/a
8	chr9:426894-426944	Hepatocyte	liver:	n/a
9	chr9:470109-470159	HCT-116	colon:	n/a
10	chr9:472966-473016	SK-N-SH	brain:	n/a
11	chr9:472966-473016	NHDF-neo	bronchial:	n/a
12	chr9:273072-273122	NB4	blood:	n/a
13	chr9:469777-469827	HCF	heart:	n/a
14	chr9:469777-469827	Hepatocyte	liver:	n/a
15	chr9:426894-426944	HRCEpiC	kidney:	n/a
16	chr9:471920-471970	CMK	blood:	n/a
17	chr9:472966-473016	HNPCEpiC	eye:	n/a
18	chr9:470109-470159	HPAEpiC	pulmonary alveolar:	n/a
19	chr9:470109-470159	GM06990	blood:	n/a
20	chr9:470109-470159	NHDF-neo	bronchial:	n/a
21	chr9:469777-469827	SK-N-SH	brain:	n/a
22	chr9:469777-469827	AG04449	skin:	fetal
23	chr9:470109-470159	HEEpiC	esophagus:	n/a
24	chr9:273072-273122	HL-60	blood:	n/a
25	chr9:426894-426944	T-47D	breast:	n/a
26	chr9:471920-471970	Caco-2	colon:	n/a
27	chr9:471920-471970	SAEC	small airway:	n/a
28	chr9:472966-473016	NT2-D1	testis:	n/a
29	chr9:470109-470159	LNCaP	prostate:	n/a
30	chr9:426894-426944	HL-60	blood:	n/a
31	chr9:471920-471970	HCPEpiC	choroid plexus:	n/a
32	chr9:469777-469827	GM12878	blood:	n/a
33	chr9:472966-473016	HCT-116	colon:	n/a
34	chr9:471920-471970	PANC-1	pancreas:	n/a
35	chr9:470323-470373	HCPEpiC	choroid plexus:	n/a
36	chr9:426894-426944	NHBE	bronchial:	n/a
37	chr9:471920-471970	ProgFib	skin:	n/a
38	chr9:471920-471970	RPTEC	kidney:	n/a
39	chr9:273072-273122	AG09319	gingival:	n/a
40	chr9:273072-273122	BJ	skin:	n/a
41	chr9:472966-473016	SK-N-SH_RA	brain:	n/a
42	chr9:470109-470159	HEK293	kidney:	embryo
43	chr9:470109-470159	PFSK-1	brain:	n/a
44	chr9:469777-469827	HUVEC	blood vessel:	n/a
45	chr9:469777-469827	HAEpiC	amniotic membrane:	n/a
46	chr9:469777-469827	HNPCEpiC	eye:	n/a
47	chr9:472966-473016	ECC-1	luminal epithelium:	n/a
48	chr9:273072-273122	H1-hESC	embryonic stem cell:	embryo
49	chr9:273072-273122	MCF10A-Er-Src	breast:	n/a
50	chr9:469777-469827	AG04450	lung:	fetal

(count:160 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr9:283346..286966-chr9:287946..290894,7	K562	blood:
2	chr9:438728..443718-chr9:444221..448963,4	K562	blood:
3	chr9:462619..465055-chr9:466811..469681,2	K562	blood:
4	chr9:441366..444017-chr9:451304..454209,2	MCF-7	breast:
5	chr9:316274..318543-chr9:331270..334145,2	MCF-7	breast:
6	chr9:246962..249799-chr9:250077..252857,2	K562	blood:
7	chr9:244363..245872-chr9:248878..250809,2	K562	blood:
8	chr9:283346..286966-chr9:287946..290894,7	K562	blood:
9	chr9:457391..459101-chr9:460366..462265,2	MCF-7	breast:
10	chr9:452598..454624-chr9:456757..459664,2	MCF-7	breast:
11	chr9:347797..348410-chr9:459774..460369,2	MCF-7	breast:
12	chr9:468933..471416-chr9:484729..487754,3	MCF-7	breast:
13	chr9:227507..229537-chr9:238867..240547,2	K562	blood:
14	chr9:214682..216322-chr9:293864..296795,2	MCF-7	breast:
15	chr15:65809681..65810581-chr9:469632..470519,2	NB4	blood:
16	chr9:213410..215081-chr9:270583..272682,2	MCF-7	breast:
17	chr9:385596..386468-chr9:546637..547164,2	MCF-7	breast:
18	chr9:262046..270232-chr9:270847..276392,11	K562	blood:
19	chr9:211790..213319-chr9:241598..244495,2	K562	blood:
20	chr9:257830..262248-chr9:271354..273884,5	K562	blood:
21	chr9:214856..218562-chr9:240584..242539,3	K562	blood:
22	chr17:56717189..56717712-chr9:242303..242942,2	MCF-7	breast:
23	chr9:324085..328451-chr9:329787..332698,3	K562	blood:
24	chr9:285389..289218-chr9:290727..294143,4	K562	blood:
25	chr9:385494..386481-chr9:546680..547596,3	MCF-7	breast:
26	chr9:303334..306488-chr9:313112..315414,3	MCF-7	breast:
27	chr9:214996..215595-chr9:307020..307600,2	MCF-7	breast:
28	chr9:324085..328451-chr9:329787..332698,3	K562	blood:
29	chr12:21809676..21810203-chr9:455132..455632,2	NB4	blood:
30	chr9:288330..291260-chr9:302503..304653,3	K562	blood:
31	chr9:243324..246093-chr9:246428..250809,6	K562	blood:
32	chr9:246731..252463-chr9:270869..275661,7	K562	blood:
33	chr9:226722..229215-chr9:247840..250679,2	K562	blood:
34	chr9:237820..240828-chr9:247584..251042,3	K562	blood:
35	chr9:285389..289218-chr9:290727..294143,4	K562	blood:
36	chr9:459270..461586-chr9:468346..470515,2	MCF-7	breast:
37	chr9:350965..353575-chr9:397923..399924,2	K562	blood:
38	chr9:213656..215329-chr9:262330..263868,2	K562	blood:
39	chr9:350965..353575-chr9:397923..399924,2	K562	blood:
40	chr9:462619..465055-chr9:466811..469681,2	K562	blood:
41	chr9:212741..215221-chr9:238241..240048,2	MCF-7	breast:
42	chr9:270180..272736-chr9:272837..274435,2	K562	blood:
43	chr9:213518..215162-chr9:305580..308186,2	K562	blood:
44	chr9:265556..268525-chr9:268878..270498,2	K562	blood:
45	chr9:213452..215018-chr9:305580..307976,2	K562	blood:
46	chr9:444957..447415-chrX:145121393..145123151,2	MCF-7	breast:
47	chr9:326951..329483-chr9:330404..332162,2	K562	blood:
48	chr9:247322..249745-chr9:277912..279940,2	K562	blood:
49	chr9:494848..496689-chr9:501659..504144,2	MCF-7	breast:
50	chr9:347951..349550-chr9:363997..366575,2	MCF-7	breast:

(count:66 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C9orf66-2	chr9:456530-456703	ENSG00000227155.3
2	lnc-C9orf66-2	chr9:459716-460507	ENSG00000227155.3
3	lnc-C9orf66-2	chr9:454432-454606	ENSG00000227155.3
4	lnc-C9orf66-2	chr9:459716-459866	ENSG00000227155.3
5	lnc-C9orf66-2	chr9:454576-454606	ENSG00000227155.3
6	lnc-C9orf66-2	chr9:456915-457047	ENSG00000227155.3
7	lnc-C9orf66-2	chr9:459716-459866	ENSG00000227155.3
8	lnc-C9orf66-1	chr9:272905-273002	ENSG00000235880.1
9	lnc-C9orf66-2	chr9:465962-466069	ENSG00000227155.3
10	lnc-DOCK8-5	chr9:471467-471586	NONHSAT129927
11	lnc-C9orf66-2	chr9:466688-466853	ENSG00000227155.3
12	lnc-DOCK8-5	chr9:471449-471586	NONHSAT129926
13	lnc-C9orf66-2	chr9:456201-456703	ENSG00000227155.3
14	lnc-C9orf66-2	chr9:457004-457047	ENSG00000227155.3
15	lnc-C9orf66-2	chr9:456915-457047	ENSG00000227155.3
16	lnc-C9orf66-2	chr9:456915-457047	ENSG00000227155.3
17	lnc-C9orf66-2	chr9:456915-457047	ENSG00000227155.3
18	lnc-C9orf66-2	chr9:470765-470934	ENSG00000227155.3
19	lnc-C9orf66-2	chr9:454447-454606	ENSG00000227155.3
20	lnc-C9orf66-2	chr9:456201-456358	ENSG00000227155.1
21	lnc-C9orf66-2	chr9:458370-458423	ENSG00000227155.3
22	lnc-C9orf66-2	chr9:470765-470816	ENSG00000227155.3
23	lnc-C9orf66-2	chr9:456201-456703	ENSG00000227155.3
24	lnc-C9orf66-2	chr9:459716-459866	ENSG00000227155.3
25	lnc-DOCK8-1	chr9:487774-487803	ENSG00000228115.1
26	lnc-DOCK8-5	chr9:473194-473273	NONHSAT129926
27	lnc-DOCK8-5	chr9:470592-470677	NONHSAT129926
28	lnc-C9orf66-2	chr9:465962-466069	ENSG00000227155.3
29	lnc-C9orf66-2	chr9:466688-467390	ENSG00000227155.3
30	lnc-C9orf66-1	chr9:267966-268273	ENSG00000235880.1
31	lnc-C9orf66-2	chr9:456201-456703	ENSG00000227155.3
32	lnc-C9orf66-2	chr9:456518-456703	ENSG00000227155.3
33	lnc-C9orf66-2	chr9:466688-467219	ENSG00000227155.3
34	lnc-C9orf66-2	chr9:456521-456703	ENSG00000227155.3
35	lnc-C9orf66-2	chr9:454457-454606	ENSG00000227155.3
36	lnc-DOCK8-1	chr9:495238-495610	ENSG00000228115.1
37	lnc-C9orf66-2	chr9:465962-466069	ENSG00000227155.3
38	lnc-C9orf66-2	chr9:458117-458281	ENSG00000227155.3
39	lnc-C9orf66-2	chr9:456211-456703	ENSG00000227155.3
40	lnc-C9orf66-2	chr9:456201-456703	ENSG00000227155.3
41	lnc-C9orf66-2	chr9:454304-454606	ENSG00000227155.1
42	lnc-C9orf66-2	chr9:454585-454606	ENSG00000227155.3
43	lnc-C9orf66-2	chr9:465962-466069	ENSG00000227155.3
44	lnc-C9orf66-2	chr9:456201-456703	ENSG00000227155.3
45	lnc-C9orf66-2	chr9:492084-492112	ENSG00000227155.3
46	lnc-C9orf66-2	chr9:459716-460227	ENSG00000227155.3
47	lnc-C9orf66-2	chr9:456204-456703	ENSG00000227155.3
48	lnc-C9orf66-2	chr9:469722-469802	ENSG00000227155.3
49	lnc-C9orf66-2	chr9:465962-466069	ENSG00000227155.3
50	lnc-C9orf66-2	chr9:470765-470961	ENSG00000227155.3

No data

Variant related genes	Relation type
DOCK8	TF binding region
ENSG00000235880	TF binding region
ENSG00000228115	TF binding region
ENSG00000227155	TF binding region
KANK1	TF binding region
ENSG00000235330	TF binding region
DOCK8	CpG island
ENSG00000235880	CpG island
ENSG00000228115	CpG island
ENSG00000227155	CpG island
KANK1	CpG island
ENSG00000235330	CpG island
ENSG00000226403	chromatin interactions
ENSG00000065978	chromatin interactions
ENSG00000169641	chromatin interactions
ENSG00000183784	chromatin interactions
ENSG00000235880	chromatin interactions
ENSG00000107099	chromatin interactions
ENSG00000227155	chromatin interactions
ENSG00000107104	chromatin interactions
ENSG00000235330	chromatin interactions
ENSG00000074603	chromatin interactions
ENSG00000168209	chromatin interactions

Extended variants
information (count: 14868 )
Associated
traits (count: 121 )

Variant overlapped rSNPs/rCNVs (count:14868 , 50 per page) page: 1 2 3 4 5 6 7 ... 298

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116225609	chr9:229205-229206	ZNF genes & repeats Genic enhancers Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs539686469	chr9:229222-229223	ZNF genes & repeats Genic enhancers Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs62531261	chr9:229248-229249	ZNF genes & repeats Genic enhancers Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs138596713	chr9:229278-229279	ZNF genes & repeats Genic enhancers Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs624098	chr9:229283-229284	ZNF genes & repeats Genic enhancers Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs200082286	chr9:229316-229317	ZNF genes & repeats Genic enhancers Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs187785435	chr9:229418-229419	ZNF genes & repeats Genic enhancers Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs193011376	chr9:229429-229430	ZNF genes & repeats Genic enhancers Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs544176740	chr9:229446-229447	ZNF genes & repeats Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540209060	chr9:229450-229451	ZNF genes & repeats Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs16923575	chr9:229470-229471	ZNF genes & repeats Genic enhancers Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs547187338	chr9:229487-229488	ZNF genes & repeats Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576913359	chr9:229500-229501	ZNF genes & repeats Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs79080550	chr9:229599-229600	ZNF genes & repeats Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12340060	chr9:229625-229626	Genic enhancers Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs560298123	chr9:229627-229628	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs16923579	chr9:229678-229679	Genic enhancers Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs73372535	chr9:229705-229706	Genic enhancers Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs560944523	chr9:229733-229734	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs10965205	chr9:229734-229735	Genic enhancers Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs549793998	chr9:229744-229745	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs79184683	chr9:229750-229751	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs10965206	chr9:229826-229827	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs148971963	chr9:229827-229828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs374888697	chr9:229878-229879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs567072329	chr9:229903-229904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs534117696	chr9:229942-229943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs555467276	chr9:229953-229954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs374919331	chr9:229973-229974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs549140108	chr9:230001-230002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs185380021	chr9:230007-230008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs188248858	chr9:230026-230027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs545309690	chr9:230028-230029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs560152960	chr9:230053-230054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs572239087	chr9:230059-230060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs368168363	chr9:230089-230090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs542455940	chr9:230095-230096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs561007909	chr9:230150-230151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs113210988	chr9:230154-230155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs531443705	chr9:230172-230173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs549857507	chr9:230173-230174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs564897916	chr9:230184-230185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs531979965	chr9:230185-230186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs552088332	chr9:230199-230200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs200881060	chr9:230203-230204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs375557090	chr9:230251-230252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs369971549	chr9:230264-230265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs113491695	chr9:230272-230273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs113339508	chr9:230273-230274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs549152940	chr9:230293-230294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:121)

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
Autism	22495311	CNVD
Non-syndromic sensorineural hearing loss	17122850	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
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
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	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
Non-syndromic sensorineural hearing loss	21293372	CNVD
early-passage human iPS cells	21368824	CNVD
Renal cell carcinoma	21215367	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:3662 , 50 per page) page: 1 2 3 4 5 6 7 ... 74

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:219000-261400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr9:223400-230400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr9:225000-236400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr9:225400-236400	Weak transcription	Primary B cells from peripheral blood	blood
5	chr9:225600-229200	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr9:225600-237000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr9:226600-236600	Weak transcription	Spleen	Spleen
8	chr9:228400-230400	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr9:228600-229200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr9:228600-229600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr9:228800-229200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
12	chr9:228800-229600	Enhancers	K562	blood
13	chr9:228800-236200	Weak transcription	Primary B cells from cord blood	blood
14	chr9:229200-229600	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr9:229200-229800	Genic enhancers	Primary monocytes fromperipheralblood	blood
16	chr9:229400-229600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr9:229600-236000	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr9:229600-236400	Weak transcription	K562	blood
19	chr9:229800-236200	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr9:230400-236600	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr9:235800-237200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr9:235800-237200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr9:235800-249200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr9:236000-236600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
25	chr9:236000-237000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
26	chr9:236200-237200	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr9:236200-237200	ZNF genes & repeats	Primary B cells from cord blood	blood
28	chr9:236400-237000	ZNF genes & repeats	K562	blood
29	chr9:236400-237400	Strong transcription	Primary B cells from peripheral blood	blood
30	chr9:236400-239200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr9:236400-239400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr9:236600-237000	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr9:236600-237200	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr9:236600-237400	Enhancers	Spleen	Spleen
35	chr9:237000-237200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr9:237000-237200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr9:237000-237200	Flanking Active TSS	K562	blood
38	chr9:237000-237800	Enhancers	Primary hematopoietic stem cells	blood
39	chr9:237000-238200	Genic enhancers	Monocytes-CD14+_RO01746	blood
40	chr9:237000-238600	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr9:237000-238600	Enhancers	Dnd41	blood
42	chr9:237000-239000	Enhancers	Primary T cells fromperipheralblood	blood
43	chr9:237000-239000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr9:237000-239000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr9:237200-237400	Genic enhancers	Primary neutrophils fromperipheralblood	blood
46	chr9:237200-237800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr9:237200-238000	Enhancers	K562	blood
48	chr9:237200-238200	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr9:237200-238400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr9:237200-238400	Enhancers	Primary T regulatory cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links