Variant report

Variant	nsv8581
Chromosome Location	chr9:139666632-139685190
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1250)
CpG islands
(count:122)
Chromatin interactive
region (count:74)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1250 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:139682089-139682517	K562	blood:	n/a	n/a
2	ARID3A	chr9:139678474-139679798	K562	blood:	n/a	n/a
3	ARID3A	chr9:139684914-139685422	K562	blood:	n/a	chr9:139684971-139684987
4	ARID3A	chr9:139683961-139684297	HepG2	liver:	n/a	n/a
5	ARID3A	chr9:139681995-139682430	HepG2	liver:	n/a	n/a
6	ARID3A	chr9:139682991-139683704	K562	blood:	n/a	n/a
7	ARID3A	chr9:139678783-139678983	HepG2	liver:	n/a	n/a
8	ATF1	chr9:139679430-139679899	K562	blood:	n/a	n/a
9	ATF1	chr9:139683680-139684000	K562	blood:	n/a	n/a
10	ATF2	chr9:139682019-139682424	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF3	chr9:139679423-139679788	K562	blood:	n/a	n/a
12	ATF3	chr9:139668269-139668395	GM12878	blood:	n/a	n/a
13	ATF3	chr9:139668215-139668454	HepG2	liver:	n/a	n/a
14	ATF3	chr9:139668163-139668543	H1-hESC	embryonic stem cell:	n/a	n/a
15	ATF3	chr9:139668076-139668471	H1-hESC	embryonic stem cell:	n/a	n/a
16	ATF3	chr9:139668158-139668508	K562	blood:	n/a	n/a
17	ATF3	chr9:139668130-139668489	GM12878	blood:	n/a	n/a
18	ATF3	chr9:139679537-139679789	K562	blood:	n/a	n/a
19	BACH1	chr9:139682453-139682461	K562	blood:	n/a	n/a
20	BATF	chr9:139682166-139682478	GM12878	blood:	n/a	n/a
21	BATF	chr9:139679522-139679896	GM12878	blood:	n/a	n/a
22	BCL11A	chr9:139679591-139679871	GM12878	blood:	n/a	n/a
23	BCLAF1	chr9:139682181-139682495	GM12878	blood:	n/a	n/a
24	BHLHE40	chr9:139685093-139685606	GM12878	blood:	n/a	chr9:139685283-139685299
25	BHLHE40	chr9:139682133-139682447	K562	blood:	n/a	n/a
26	BHLHE40	chr9:139685151-139685939	K562	blood:	n/a	chr9:139685599-139685615 chr9:139685283-139685299
27	BHLHE40	chr9:139679675-139679794	GM12878	blood:	n/a	n/a
28	BHLHE40	chr9:139683691-139683692	K562	blood:	n/a	n/a
29	BHLHE40	chr9:139679407-139679964	K562	blood:	n/a	n/a
30	BHLHE40	chr9:139679581-139679794	HepG2	liver:	n/a	n/a
31	BHLHE40	chr9:139685169-139685436	HepG2	liver:	n/a	chr9:139685283-139685299
32	BHLHE40	chr9:139682123-139682433	GM12878	blood:	n/a	n/a
33	BRCA1	chr9:139684991-139685908	Hela-S3	cervix:	n/a	n/a
34	BRCA1	chr9:139682147-139682434	Hela-S3	cervix:	n/a	n/a
35	CBX3	chr9:139683471-139684124	K562	blood:	n/a	n/a
36	CBX3	chr9:139667686-139668554	K562	blood:	n/a	n/a
37	CBX3	chr9:139668883-139669223	K562	blood:	n/a	n/a
38	CBX3	chr9:139667695-139668588	HCT-116	colon:	n/a	n/a
39	CBX3	chr9:139667717-139668521	K562	blood:	n/a	n/a
40	CBX3	chr9:139680042-139680462	K562	blood:	n/a	n/a
41	CBX3	chr9:139679440-139679972	K562	blood:	n/a	n/a
42	CBX3	chr9:139684975-139685410	K562	blood:	n/a	n/a
43	CCNT2	chr9:139685102-139685931	K562	blood:	n/a	chr9:139685648-139685657 chr9:139685371-139685380
44	CEBPB	chr9:139676958-139677311	A549	lung:	n/a	chr9:139677133-139677144
45	CEBPB	chr9:139677017-139677281	H1-hESC	embryonic stem cell:	n/a	chr9:139677133-139677144
46	CEBPB	chr9:139682192-139682349	K562	blood:	n/a	n/a
47	CEBPB	chr9:139676958-139677313	HepG2	liver:	n/a	chr9:139677133-139677144
48	CEBPB	chr9:139676969-139677304	Hela-S3	cervix:	n/a	chr9:139677133-139677144
49	CEBPB	chr9:139676964-139677310	IMR90	lung:	n/a	chr9:139677133-139677144
50	CEBPB	chr9:139680668-139680841	HepG2	liver:	n/a	chr9:139680791-139680802

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:139683367-139683417	SK-N-SH_RA	brain:	n/a
2	chr9:139683367-139683417	ECC-1	luminal epithelium:	n/a
3	chr9:139683367-139683417	AoSMC	blood vessel:	n/a
4	chr9:139685156-139685206	Hepatocyte	liver:	n/a
5	chr9:139685156-139685206	HepG2	liver:	n/a
6	chr9:139683367-139683417	HUVEC	blood vessel:	n/a
7	chr9:139683367-139683417	HCF	heart:	n/a
8	chr9:139683367-139683417	HNPCEpiC	eye:	n/a
9	chr9:139685156-139685206	GM12878	blood:	n/a
10	chr9:139683367-139683417	NHDF-neo	bronchial:	n/a
11	chr9:139685156-139685206	SKMC	muscle:	n/a
12	chr9:139685156-139685206	HCF	heart:	n/a
13	chr9:139685156-139685206	GM12892	blood:	n/a
14	chr9:139685156-139685206	HEEpiC	esophagus:	n/a
15	chr9:139683367-139683417	SK-N-SH	brain:	n/a
16	chr9:139683367-139683417	HepG2	liver:	n/a
17	chr9:139685156-139685206	SAEC	small airway:	n/a
18	chr9:139683367-139683417	NB4	blood:	n/a
19	chr9:139683367-139683417	AG04450	lung:	fetal
20	chr9:139685156-139685206	PANC-1	pancreas:	n/a
21	chr9:139683367-139683417	PrEC	prostate:	n/a
22	chr9:139685156-139685206	SK-N-SH_RA	brain:	n/a
23	chr9:139685156-139685206	HRCEpiC	kidney:	n/a
24	chr9:139683367-139683417	HAEpiC	amniotic membrane:	n/a
25	chr9:139683367-139683417	Hela-S3	cervix:	n/a
26	chr9:139685156-139685206	HEK293	kidney:	embryo
27	chr9:139683367-139683417	AG09309	skin:	n/a
28	chr9:139685156-139685206	RPTEC	kidney:	n/a
29	chr9:139683367-139683417	PANC-1	pancreas:	n/a
30	chr9:139685156-139685206	HMEC	breast:	n/a
31	chr9:139685156-139685206	Jurkat	blood:	n/a
32	chr9:139685156-139685206	IMR90	lung:	fetal
33	chr9:139685156-139685206	HIPEpiC	eye:	n/a
34	chr9:139683367-139683417	SAEC	small airway:	n/a
35	chr9:139685156-139685206	SK-N-MC	brain:	n/a
36	chr9:139683367-139683417	IMR90	lung:	fetal
37	chr9:139685156-139685206	SK-N-SH	brain:	n/a
38	chr9:139685156-139685206	AG09309	skin:	n/a
39	chr9:139683367-139683417	CMK	blood:	n/a
40	chr9:139685156-139685206	PFSK-1	brain:	n/a
41	chr9:139685156-139685206	NHBE	bronchial:	n/a
42	chr9:139683367-139683417	NT2-D1	testis:	n/a
43	chr9:139683367-139683417	HRCEpiC	kidney:	n/a
44	chr9:139685156-139685206	AG04449	skin:	fetal
45	chr9:139685156-139685206	BJ	skin:	n/a
46	chr9:139683367-139683417	ProgFib	skin:	n/a
47	chr9:139685156-139685206	GM06990	blood:	n/a
48	chr9:139683367-139683417	AG04449	skin:	fetal
49	chr9:139683367-139683417	K562	blood:	n/a
50	chr9:139685156-139685206	NT2-D1	testis:	n/a

(count:74 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr9:139679609..139682162-chr9:139682181..139685011,2	K562	blood:
2	chr9:139678272..139680564-chr9:139747408..139750108,2	K562	blood:
3	chr9:139682478..139689029-chr9:139739017..139745111,14	MCF-7	breast:
4	chr9:139685184..139687112-chr9:139923073..139925089,2	K562	blood:
5	chr9:139685045..139687775-chr9:139838528..139840680,3	MCF-7	breast:
6	chr9:139620633..139623014-chr9:139678413..139683137,4	MCF-7	breast:
7	chr9:139681947..139682447-chr9:140405240..140405846,2	K562	blood:
8	chr9:139673192..139676161-chr9:139677601..139680526,2	K562	blood:
9	chr9:139683199..139684717-chr9:139928493..139930688,2	K562	blood:
10	chr9:139677027..139679580-chr9:139683653..139686548,4	K562	blood:
11	chr9:139679609..139682162-chr9:139682181..139685011,2	K562	blood:
12	chr9:139663003..139666035-chr9:139678378..139681076,3	MCF-7	breast:
13	chr9:139678562..139681491-chr9:139839917..139841672,2	K562	blood:
14	chr9:139655316..139662123-chr9:139682792..139687315,9	K562	blood:
15	chr9:139684839..139687692-chr9:140133379..140136351,2	K562	blood:
16	chr9:139683536..139687591-chr9:139921894..139924460,4	MCF-7	breast:
17	chr9:139682349..139684951-chr9:140121379..140123237,2	MCF-7	breast:
18	chr9:139680143..139683670-chr9:139733731..139736557,4	K562	blood:
19	chr9:139682813..139684569-chr9:139931915..139934593,2	K562	blood:
20	chr9:139655064..139662123-chr9:139682792..139687315,8	K562	blood:
21	chr9:139684892..139687578-chr9:139837356..139841601,5	MCF-7	breast:
22	chr9:139683956..139686805-chr9:139759476..139762269,2	K562	blood:
23	chr9:139683838..139686879-chr9:140133317..140137174,3	MCF-7	breast:
24	chr9:139677108..139679215-chr9:139738761..139741423,2	K562	blood:
25	chr9:139621146..139623765-chr9:139683662..139685533,2	MCF-7	breast:
26	chr9:139681319..139683453-chr9:140135277..140137086,2	K562	blood:
27	chr9:139666515..139668281-chr9:139676251..139678403,3	MCF-7	breast:
28	chr9:139684238..139687578-chr9:139742280..139744165,4	K562	blood:
29	chr9:139683844..139686178-chr9:139749030..139751870,2	MCF-7	breast:
30	chr9:139375786..139378858-chr9:139684688..139686351,3	MCF-7	breast:
31	chr9:139685015..139687198-chr9:139901432..139904187,2	MCF-7	breast:
32	chr9:139655003..139655882-chr9:139678543..139679347,2	MCF-7	breast:
33	chr9:139664152..139666690-chr9:139684867..139687116,2	MCF-7	breast:
34	chr9:139671912..139674656-chr9:140133949..140136932,2	MCF-7	breast:
35	chr9:139621035..139624561-chr9:139681529..139687287,9	K562	blood:
36	chr9:139683825..139687268-chr9:139871414..139874835,3	K562	blood:
37	chr9:139652661..139658683-chr9:139677710..139682329,5	K562	blood:
38	chr9:139681221..139684679-chr9:139733731..139738614,5	K562	blood:
39	chr9:139681106..139687354-chr9:139701145..139707280,8	K562	blood:
40	chr9:139679190..139682113-chr9:139741190..139743135,2	MCF-7	breast:
41	chr9:139680958..139683172-chr9:139779307..139781028,2	K562	blood:
42	chr9:139683448..139687043-chr9:139724439..139728151,3	MCF-7	breast:
43	chr9:139681818..139682355-chr9:139922564..139923909,3	K562	blood:
44	chr9:139682366..139684711-chr9:139686192..139687800,2	K562	blood:
45	chr9:139684739..139686242-chr9:139947463..139949767,2	MCF-7	breast:
46	chr9:139621035..139622592-chr9:139681218..139683029,2	K562	blood:
47	chr9:139377008..139379859-chr9:139684453..139686903,3	MCF-7	breast:
48	chr9:139619782..139621947-chr9:139681602..139685088,3	MCF-7	breast:
49	chr9:139682705..139685431-chr9:139821546..139824026,2	K562	blood:
50	chr9:139680844..139683815-chr9:139842412..139844247,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TMEM141-1	chr9:139674391-139674670	NONHSAT135598

No data

Variant related genes	Relation type
ENSG00000272896	TF binding region
ATP6V1G1P3	TF binding region
TMEM141	TF binding region
ENSG00000272896	CpG island
ATP6V1G1P3	CpG island
TMEM141	CpG island
ENSG00000232434	chromatin interactions
ENSG00000224662	chromatin interactions
ENSG00000236394	chromatin interactions
ENSG00000244187	chromatin interactions
ENSG00000177943	chromatin interactions
ENSG00000196366	chromatin interactions
ENSG00000228544	chromatin interactions
ENSG00000107331	chromatin interactions
ENSG00000184925	chromatin interactions
ENSG00000148362	chromatin interactions
ENSG00000213213	chromatin interactions
ENSG00000169583	chromatin interactions
ENSG00000107223	chromatin interactions
ENSG00000176919	chromatin interactions
ENSG00000159069	chromatin interactions
ENSG00000107317	chromatin interactions
ENSG00000233198	chromatin interactions
ENSG00000196642	chromatin interactions
ENSG00000054148	chromatin interactions
ENSG00000180539	chromatin interactions
ENSG00000127191	chromatin interactions
ENSG00000054179	chromatin interactions
ENSG00000265806	chromatin interactions
ENSG00000233016	chromatin interactions
ENSG00000204001	chromatin interactions
ENSG00000188229	chromatin interactions
ENSG00000177984	chromatin interactions
ENSG00000266507	chromatin interactions
ENSG00000272896	chromatin interactions

Extended variants
information (count: 901 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:901 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116568950	chr9:139666648-139666649	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs541153835	chr9:139666649-139666650	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs564040262	chr9:139666664-139666665	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs142018156	chr9:139666671-139666672	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs543218176	chr9:139666696-139666697	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs563204612	chr9:139666700-139666701	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs189954207	chr9:139666725-139666726	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs542608949	chr9:139666759-139666760	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs73556046	chr9:139666791-139666792	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs535819428	chr9:139666796-139666797	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs528563666	chr9:139666840-139666841	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs551819656	chr9:139666902-139666903	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs376610766	chr9:139666907-139666908	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs571651988	chr9:139666932-139666933	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs531083526	chr9:139666951-139666952	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs551234440	chr9:139666953-139666954	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs567954758	chr9:139666998-139666999	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs545826526	chr9:139667015-139667016	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs373577319	chr9:139667046-139667047	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs182694003	chr9:139667054-139667055	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs150660042	chr9:139667080-139667081	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs555740010	chr9:139667112-139667113	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs575763424	chr9:139667127-139667128	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs140950318	chr9:139667161-139667162	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs561165698	chr9:139667172-139667173	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs577675100	chr9:139667200-139667201	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs372676879	chr9:139667300-139667301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs573258235	chr9:139667301-139667302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs12552459	chr9:139667317-139667318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs144705502	chr9:139667340-139667341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573579685	chr9:139667356-139667357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs542549328	chr9:139667396-139667397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs147914357	chr9:139667405-139667406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550625723	chr9:139667430-139667431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528438201	chr9:139667433-139667434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs35988889	chr9:139667476-139667477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs11304434	chr9:139667497-139667498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567756774	chr9:139667498-139667499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545080935	chr9:139667571-139667572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs187772408	chr9:139667656-139667657	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs192448218	chr9:139667692-139667693	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs117188394	chr9:139667699-139667700	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs567892314	chr9:139667734-139667735	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs35916472	chr9:139667832-139667833	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560879924	chr9:139667833-139667834	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs139981341	chr9:139667850-139667851	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs149972788	chr9:139667870-139667871	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542164390	chr9:139667880-139667881	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567057044	chr9:139667899-139667900	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs145201949	chr9:139667917-139667918	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17603634	CNVD
Oral cancer	21386901	CNVD
Cardiac fibroma	18329553	CNVD
Lung cancer	19147751	CNVD
Melanoma	18172304	CNVD
Cervical cancer	16585170	CNVD
Ependymoma	19289631	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Cervical cancer	17311676	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Chordoma	18071362	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Kleefstra Syndrome	21538692	CNVD
Disorders of sex development	22290220	CNVD
Cancer	21183584	CNVD
Chronic myelomonocytic leukemia	16760666	CNVD
Abnormal phenotypes	18644119	CNVD
Ovarian cancer	21720365	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Sudden cardiac death	19188705	CNVD
Myoepithelioma	18604193	CNVD
Tuberous sclerosis	19566914	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Hepatocellular carcinoma	22174799	CNVD
Idiopathic chronic pancreatitis	21572526	CNVD
Kleefstra syndrome	22670141	CNVD
Schizophrenia	22241247	CNVD
9q deletion syndrome	16826528	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Non-small cell lung cancer	21829676	CNVD
Non-syndromic sensorineural hearing loss	19293338	CNVD
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Mantle cell lymphoma	19029149	CNVD
Autism	20808228	CNVD
Epilepsy	22083797	CNVD
Cancer	20164920	CNVD
Breast cancer	21509527	CNVD
Developmental delay	20877625	CNVD
Hypoplastic	20877625	CNVD
Mental retardation	20877625	CNVD
Microcephaly	20877625	CNVD
Palpebral fissures	20877625	CNVD
Melanoma	20877625	CNVD
Medulloblastoma	21163964	CNVD

Chromatin state (count:506 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:139657800-139667800	Weak transcription	Right Atrium	heart
2	chr9:139659200-139667800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr9:139664600-139667600	Weak transcription	Fetal Intestine Small	intestine
4	chr9:139664600-139667800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr9:139664600-139668000	Weak transcription	Colonic Mucosa	Colon
6	chr9:139666800-139667000	Bivalent Enhancer	Stomach Smooth Muscle	stomach
7	chr9:139667400-139667600	Weak transcription	Ovary	ovary
8	chr9:139667600-139669200	ZNF genes & repeats	Fetal Intestine Small	intestine
9	chr9:139667800-139668200	ZNF genes & repeats	Right Atrium	heart
10	chr9:139667800-139668400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
11	chr9:139667800-139668600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr9:139667800-139668600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr9:139667800-139668600	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
14	chr9:139668000-139668600	ZNF genes & repeats	Colonic Mucosa	Colon
15	chr9:139668000-139669200	ZNF genes & repeats	K562	blood
16	chr9:139668200-139668600	ZNF genes & repeats	Fetal Thymus	thymus
17	chr9:139668200-139668800	Enhancers	Primary B cells from peripheral blood	blood
18	chr9:139668200-139682400	Weak transcription	Right Atrium	heart
19	chr9:139668400-139668600	Flanking Active TSS	HepG2	liver
20	chr9:139668400-139668800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr9:139668600-139668800	Enhancers	Fetal Thymus	thymus
22	chr9:139668600-139668800	Enhancers	HepG2	liver
23	chr9:139668600-139671400	Weak transcription	Colonic Mucosa	Colon
24	chr9:139668800-139671200	Weak transcription	HepG2	liver
25	chr9:139669200-139671000	Weak transcription	Fetal Intestine Small	intestine
26	chr9:139669200-139671200	Weak transcription	K562	blood
27	chr9:139670800-139673400	Enhancers	Fetal Intestine Large	intestine
28	chr9:139671000-139671600	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr9:139671000-139671800	Enhancers	Fetal Intestine Small	intestine
30	chr9:139671200-139671400	Enhancers	HepG2	liver
31	chr9:139671200-139671800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr9:139671200-139672600	Enhancers	Duodenum Mucosa	Duodenum
33	chr9:139671200-139672600	Enhancers	K562	blood
34	chr9:139671400-139671800	Enhancers	Colonic Mucosa	Colon
35	chr9:139671400-139671800	Enhancers	Placenta	Placenta
36	chr9:139671400-139672400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr9:139671400-139672400	Flanking Active TSS	HepG2	liver
38	chr9:139671400-139672600	Enhancers	Placenta Amnion	Placenta Amnion
39	chr9:139671600-139671800	Enhancers	Rectal Mucosa Donor 29	rectum
40	chr9:139671600-139672400	Bivalent Enhancer	Fetal Muscle Leg	muscle
41	chr9:139671600-139672400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
42	chr9:139671600-139672600	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr9:139671800-139672000	Flanking Active TSS	Placenta	Placenta
44	chr9:139671800-139672000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
45	chr9:139671800-139672200	Flanking Active TSS	Colonic Mucosa	Colon
46	chr9:139671800-139672200	Flanking Active TSS	Fetal Intestine Small	intestine
47	chr9:139672000-139672200	Enhancers	Rectal Mucosa Donor 29	rectum
48	chr9:139672000-139672600	Enhancers	Placenta	Placenta
49	chr9:139672200-139672400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
50	chr9:139672200-139672600	Enhancers	Colonic Mucosa	Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links