Variant report

Variant	nsv1041922
Chromosome Location	chr9:97444976-97536753
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:97496352-97496644	K562	blood:	n/a	n/a
2	ARID3A	chr9:97469380-97469629	HepG2	liver:	n/a	n/a
3	ARID3A	chr9:97460461-97460526	HepG2	liver:	n/a	n/a
4	ARID3A	chr9:97465577-97466362	HepG2	liver:	n/a	n/a
5	ARID3A	chr9:97454939-97455210	HepG2	liver:	n/a	n/a
6	ARID3A	chr9:97472343-97472461	K562	blood:	n/a	n/a
7	ARID3A	chr9:97448646-97449186	HepG2	liver:	n/a	n/a
8	ARID3A	chr9:97488625-97488972	K562	blood:	n/a	n/a
9	ARID3A	chr9:97488757-97489141	HepG2	liver:	n/a	n/a
10	ARID3A	chr9:97508992-97509608	HepG2	liver:	n/a	n/a
11	ATF1	chr9:97496486-97496796	K562	blood:	n/a	n/a
12	ATF1	chr9:97519376-97519693	K562	blood:	n/a	n/a
13	ATF1	chr9:97488561-97489379	K562	blood:	n/a	n/a
14	ATF2	chr9:97488605-97489255	GM12878	blood:	n/a	n/a
15	ATF2	chr9:97488798-97489174	GM12878	blood:	n/a	n/a
16	ATF2	chr9:97488778-97489201	H1-hESC	embryonic stem cell:	n/a	n/a
17	ATF3	chr9:97488769-97489172	H1-hESC	embryonic stem cell:	n/a	chr9:97488948-97488959 chr9:97488947-97488960 chr9:97488893-97488902 chr9:97488946-97488961 chr9:97488949-97488960 chr9:97488950-97488958 chr9:97488948-97488961 chr9:97488947-97488960 chr9:97488946-97488957 chr9:97488947-97488957 chr9:97488950-97488957 chr9:97488948-97488959 chr9:97488947-97488958 chr9:97488949-97488957 chr9:97488938-97488958 chr9:97488950-97488961
18	ATF3	chr9:97488735-97489151	K562	blood:	n/a	chr9:97488948-97488959 chr9:97488947-97488960 chr9:97488893-97488902 chr9:97488946-97488961 chr9:97488949-97488960 chr9:97488950-97488958 chr9:97488948-97488961 chr9:97488947-97488960 chr9:97488946-97488957 chr9:97488947-97488957 chr9:97488950-97488957 chr9:97488948-97488959 chr9:97488947-97488958 chr9:97488949-97488957 chr9:97488938-97488958 chr9:97488950-97488961
19	ATF3	chr9:97488731-97489144	K562	blood:	n/a	chr9:97488948-97488959 chr9:97488947-97488960 chr9:97488893-97488902 chr9:97488946-97488961 chr9:97488949-97488960 chr9:97488950-97488958 chr9:97488948-97488961 chr9:97488947-97488960 chr9:97488946-97488957 chr9:97488947-97488957 chr9:97488950-97488957 chr9:97488948-97488959 chr9:97488947-97488958 chr9:97488949-97488957 chr9:97488938-97488958 chr9:97488950-97488961
20	ATF3	chr9:97488676-97489209	HepG2	liver:	n/a	chr9:97488948-97488959 chr9:97488947-97488960 chr9:97488893-97488902 chr9:97488946-97488961 chr9:97488949-97488960 chr9:97488950-97488958 chr9:97488948-97488961 chr9:97488947-97488960 chr9:97488946-97488957 chr9:97488947-97488957 chr9:97488950-97488957 chr9:97488948-97488959 chr9:97488947-97488958 chr9:97488949-97488957 chr9:97488938-97488958 chr9:97488950-97488961
21	ATF3	chr9:97488695-97489167	A549	lung:	n/a	chr9:97488948-97488959 chr9:97488947-97488960 chr9:97488893-97488902 chr9:97488946-97488961 chr9:97488949-97488960 chr9:97488950-97488958 chr9:97488948-97488961 chr9:97488947-97488960 chr9:97488946-97488957 chr9:97488947-97488957 chr9:97488950-97488957 chr9:97488948-97488959 chr9:97488947-97488958 chr9:97488949-97488957 chr9:97488938-97488958 chr9:97488950-97488961
22	ATF3	chr9:97488516-97489138	GM12878	blood:	n/a	chr9:97488948-97488959 chr9:97488947-97488960 chr9:97488893-97488902 chr9:97488946-97488961 chr9:97488949-97488960 chr9:97488950-97488958 chr9:97488948-97488961 chr9:97488947-97488960 chr9:97488946-97488957 chr9:97488947-97488957 chr9:97488950-97488957 chr9:97488948-97488959 chr9:97488947-97488958 chr9:97488949-97488957 chr9:97488938-97488958 chr9:97488950-97488961
23	ATF3	chr9:97488746-97489138	K562	blood:	n/a	chr9:97488948-97488959 chr9:97488947-97488960 chr9:97488893-97488902 chr9:97488946-97488961 chr9:97488949-97488960 chr9:97488950-97488958 chr9:97488948-97488961 chr9:97488947-97488960 chr9:97488946-97488957 chr9:97488947-97488957 chr9:97488950-97488957 chr9:97488948-97488959 chr9:97488947-97488958 chr9:97488949-97488957 chr9:97488938-97488958 chr9:97488950-97488961
24	ATF3	chr9:97519398-97519707	K562	blood:	n/a	n/a
25	ATF3	chr9:97488785-97489184	HepG2	liver:	n/a	chr9:97488948-97488959 chr9:97488947-97488960 chr9:97488893-97488902 chr9:97488946-97488961 chr9:97488949-97488960 chr9:97488950-97488958 chr9:97488948-97488961 chr9:97488947-97488960 chr9:97488946-97488957 chr9:97488947-97488957 chr9:97488950-97488957 chr9:97488948-97488959 chr9:97488947-97488958 chr9:97488949-97488957 chr9:97488938-97488958 chr9:97488950-97488961
26	ATF3	chr9:97488637-97489166	H1-hESC	embryonic stem cell:	n/a	chr9:97488948-97488959 chr9:97488947-97488960 chr9:97488893-97488902 chr9:97488946-97488961 chr9:97488949-97488960 chr9:97488950-97488958 chr9:97488948-97488961 chr9:97488947-97488960 chr9:97488946-97488957 chr9:97488947-97488957 chr9:97488950-97488957 chr9:97488948-97488959 chr9:97488947-97488958 chr9:97488949-97488957 chr9:97488938-97488958 chr9:97488950-97488961
27	BACH1	chr9:97519445-97519662	H1-hESC	embryonic stem cell:	n/a	n/a
28	BACH1	chr9:97488839-97488959	K562	blood:	n/a	n/a
29	BACH1	chr9:97488766-97489187	H1-hESC	embryonic stem cell:	n/a	n/a
30	BATF	chr9:97488831-97489124	GM12878	blood:	n/a	chr9:97488947-97488960
31	BATF	chr9:97529936-97530364	GM12878	blood:	n/a	chr9:97530220-97530230
32	BATF	chr9:97447710-97447920	GM12878	blood:	n/a	n/a
33	BCL3	chr9:97488409-97489233	A549	lung:	n/a	chr9:97489085-97489098 chr9:97489089-97489102 chr9:97488835-97488848
34	BCLAF1	chr9:97488454-97489206	GM12878	blood:	n/a	chr9:97489085-97489098 chr9:97489089-97489102 chr9:97488835-97488848
35	BHLHE40	chr9:97488744-97489639	K562	blood:	n/a	n/a
36	BHLHE40	chr9:97502930-97502978	GM12878	blood:	n/a	n/a
37	BHLHE40	chr9:97488736-97489567	HepG2	liver:	n/a	n/a
38	BHLHE40	chr9:97488764-97489213	A549	lung:	n/a	n/a
39	BHLHE40	chr9:97488588-97489990	GM12878	blood:	n/a	n/a
40	BRCA1	chr9:97488729-97489256	HepG2	liver:	n/a	n/a
41	BRCA1	chr9:97488805-97489139	H1-hESC	embryonic stem cell:	n/a	n/a
42	BRCA1	chr9:97488812-97489062	GM12878	blood:	n/a	n/a
43	BRCA1	chr9:97488616-97489154	Hela-S3	cervix:	n/a	n/a
44	BRCA1	chr9:97517566-97517615	Hela-S3	cervix:	n/a	n/a
45	CBX3	chr9:97484021-97484430	K562	blood:	n/a	n/a
46	CBX3	chr9:97488194-97488714	K562	blood:	n/a	n/a
47	CBX3	chr9:97479915-97480272	K562	blood:	n/a	n/a
48	CBX3	chr9:97488183-97489269	K562	blood:	n/a	n/a
49	CCNT2	chr9:97488745-97489171	K562	blood:	n/a	n/a
50	CCNT2	chr9:97519368-97519695	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:97489230-97489280	AG09309	skin:	n/a
2	chr9:97488597-97488647	Hela-S3	cervix:	n/a
3	chr9:97487067-97487117	PANC-1	pancreas:	n/a
4	chr9:97489463-97489513	PANC-1	pancreas:	n/a
5	chr9:97488953-97489003	SAEC	small airway:	n/a
6	chr9:97491386-97491436	ovcar-3	ovarian:	n/a
7	chr9:97488936-97488986	U87	brain:	n/a
8	chr9:97489463-97489513	U87	brain:	n/a
9	chr9:97489272-97489322	HUVEC	blood vessel:	n/a
10	chr9:97488936-97488986	GM06990	blood:	n/a
11	chr9:97489230-97489280	PrEC	prostate:	n/a
12	chr9:97488940-97488990	SAEC	small airway:	n/a
13	chr9:97489272-97489322	AG09319	gingival:	n/a
14	chr9:97487067-97487117	Hepatocyte	liver:	n/a
15	chr9:97488953-97489003	GM12878	blood:	n/a
16	chr9:97491386-97491436	MCF-7	breast:	n/a
17	chr9:97487067-97487117	NH-A	brain:	n/a
18	chr9:97488597-97488647	ovcar-3	ovarian:	n/a
19	chr9:97489463-97489513	NB4	blood:	n/a
20	chr9:97488953-97489003	Hela-S3	cervix:	n/a
21	chr9:97488597-97488647	NHDF-neo	bronchial:	n/a
22	chr9:97491386-97491436	HUVEC	blood vessel:	n/a
23	chr9:97488940-97488990	AG04450	lung:	fetal
24	chr9:97489272-97489322	AG10803	skin:	n/a
25	chr9:97489230-97489280	HUVEC	blood vessel:	n/a
26	chr9:97489463-97489513	ovcar-3	ovarian:	n/a
27	chr9:97488597-97488647	GM12878	blood:	n/a
28	chr9:97491386-97491436	AG09309	skin:	n/a
29	chr9:97489272-97489322	HRCEpiC	kidney:	n/a
30	chr9:97488953-97489003	CMK	blood:	n/a
31	chr9:97488953-97489003	NHDF-neo	bronchial:	n/a
32	chr9:97488936-97488986	AG09309	skin:	n/a
33	chr9:97488597-97488647	SK-N-SH	brain:	n/a
34	chr9:97489463-97489513	NH-A	brain:	n/a
35	chr9:97489272-97489322	Hepatocyte	liver:	n/a
36	chr9:97489272-97489322	PANC-1	pancreas:	n/a
37	chr9:97489230-97489280	ECC-1	luminal epithelium:	n/a
38	chr9:97489230-97489280	AoSMC	blood vessel:	n/a
39	chr9:97488597-97488647	Jurkat	blood:	n/a
40	chr9:97488597-97488647	PrEC	prostate:	n/a
41	chr9:97487067-97487117	U87	brain:	n/a
42	chr9:97489230-97489280	Hepatocyte	liver:	n/a
43	chr9:97488953-97489003	Caco-2	colon:	n/a
44	chr9:97487067-97487117	Hela-S3	cervix:	n/a
45	chr9:97488936-97488986	HCT-116	colon:	n/a
46	chr9:97489463-97489513	NHDF-neo	bronchial:	n/a
47	chr9:97488940-97488990	GM06990	blood:	n/a
48	chr9:97488936-97488986	SK-N-MC	brain:	n/a
49	chr9:97489463-97489513	PFSK-1	brain:	n/a
50	chr9:97488597-97488647	Caco-2	colon:	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:97482485..97485496-chr9:97487449..97489584,3	MCF-7	breast:
2	chr9:97529861..97533578-chr9:97534032..97536715,3	K562	blood:
3	chr9:97488282..97491974-chr9:97498704..97501209,3	MCF-7	breast:
4	chr15:69366657..69367353-chr9:97488412..97489305,2	HCT-116	colon:
5	chr9:97487662..97491833-chr9:97492544..97495519,5	K562	blood:
6	chr9:97529861..97533578-chr9:97534032..97536715,3	K562	blood:
7	chr9:97459537..97462925-chr9:97464708..97468853,4	MCF-7	breast:
8	chr9:97510788..97512507-chr9:97764246..97767153,2	MCF-7	breast:
9	chr9:97494353..97497226-chr9:97497507..97500698,3	K562	blood:
10	chr9:97484874..97487089-chr9:97487277..97488932,2	K562	blood:
11	chr9:97461323..97463408-chr9:97466461..97468614,2	MCF-7	breast:
12	chr9:97534491..97536621-chr9:97770920..97772463,2	MCF-7	breast:
13	chr9:97483583..97486374-chr9:97487367..97488932,2	K562	blood:
14	chr9:97528259..97530073-chr9:97535498..97538318,2	MCF-7	breast:
15	chr9:97430208..97431715-chr9:97447673..97449794,2	K562	blood:
16	chr9:97399286..97401961-chr9:97487355..97490023,2	MCF-7	breast:
17	chr9:97510928..97513839-chr9:97515556..97518922,4	MCF-7	breast:
18	chr9:97494182..97496611-chr9:97502044..97503943,2	K562	blood:
19	chr9:97502535..97503065-chr9:97545339..97545882,2	MCF-7	breast:
20	chr9:97488223..97490513-chr9:97527802..97530003,2	MCF-7	breast:
21	chr9:97487335..97489604-chr9:97513494..97515612,2	MCF-7	breast:
22	chr9:97525737..97528052-chr9:97529535..97531764,2	K562	blood:
23	chr9:97487422..97488922-chr9:97489538..97492187,2	K562	blood:
24	chr9:97494025..97495913-chr9:97503226..97505755,2	MCF-7	breast:
25	chr9:97510928..97513839-chr9:97515556..97518922,4	MCF-7	breast:
26	chr9:97487054..97489402-chr9:97489677..97491184,2	MCF-7	breast:
27	chr9:97530626..97534561-chr9:97683586..97686603,3	MCF-7	breast:
28	chr9:97525840..97529015-chr9:97532404..97535563,3	K562	blood:
29	chr9:97487838..97490681-chr9:97519365..97521515,2	MCF-7	breast:
30	chr9:97443304..97445720-chr9:97866008..97868131,2	MCF-7	breast:
31	chr9:97473271..97475779-chr9:97486432..97489420,2	MCF-7	breast:
32	chr9:97470578..97472511-chr9:97491316..97494185,2	MCF-7	breast:
33	chr9:97444988..97448492-chr9:97460708..97463598,3	MCF-7	breast:
34	chr9:97444268..97446694-chr9:97684969..97686706,2	MCF-7	breast:
35	chr9:97524321..97526027-chr9:97528891..97531029,2	K562	blood:
36	chr9:97459238..97460937-chr9:97893388..97895358,2	MCF-7	breast:
37	chr9:97470578..97472511-chr9:97491316..97494185,2	MCF-7	breast:
38	chr9:97528259..97530073-chr9:97535498..97538318,2	MCF-7	breast:
39	chr9:97489110..97491852-chr9:97765844..97767356,2	K562	blood:
40	chr9:97494353..97497226-chr9:97497507..97500698,3	K562	blood:
41	chr9:97494025..97495913-chr9:97503226..97505755,2	MCF-7	breast:
42	chr9:97443407..97445106-chr9:97754287..97756345,2	MCF-7	breast:
43	chr9:97534054..97535616-chr9:97556815..97558640,2	K562	blood:
44	chr9:97529221..97532775-chr9:97533309..97537011,4	K562	blood:
45	chr9:97513419..97515003-chr9:97519758..97522682,2	MCF-7	breast:
46	chr9:97510167..97511936-chr9:97513211..97515620,2	K562	blood:
47	chr9:97510167..97511936-chr9:97513211..97515620,2	K562	blood:
48	chr9:97487875..97491312-chr9:97494821..97498928,5	MCF-7	breast:
49	chr9:97501974..97503551-chr9:97768873..97771457,2	MCF-7	breast:
50	chr9:97491050..97491919-chr9:97889675..97890260,2	MCF-7	breast:

Variant related genes	Relation type
C9orf3	TF binding region
C9orf3	CpG island
ENSG00000212766	chromatin interactions
ENSG00000158169	chromatin interactions
ENSG00000165140	chromatin interactions
ENSG00000148120	chromatin interactions

Extended variants
information (count: 3299 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:3299 , 50 per page) page: 1 2 3 4 5 6 7 ... 66

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6479563	chr9:97444976-97444977	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs145617401	chr9:97444997-97444998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs62580288	chr9:97445003-97445004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs141891553	chr9:97445024-97445025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs150779286	chr9:97445046-97445047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs181782930	chr9:97445110-97445111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs12335609	chr9:97445112-97445113	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs112286426	chr9:97445115-97445116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs185914661	chr9:97445127-97445128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs138027557	chr9:97445148-97445149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs549597581	chr9:97445166-97445167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs565435468	chr9:97445205-97445206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs565162324	chr9:97445212-97445213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs535307654	chr9:97445246-97445247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs547682108	chr9:97445254-97445255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs566708123	chr9:97445274-97445275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs534248189	chr9:97445331-97445332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs372477822	chr9:97445376-97445377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs369380994	chr9:97445472-97445473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs149501624	chr9:97445494-97445495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs538420109	chr9:97445503-97445504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs560630628	chr9:97445516-97445517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs556767255	chr9:97445544-97445545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs79651350	chr9:97445555-97445556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs191552263	chr9:97445619-97445620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs554448442	chr9:97445646-97445647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs571942321	chr9:97445647-97445648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs542252931	chr9:97445648-97445649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs16911593	chr9:97445649-97445650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs181598490	chr9:97445678-97445679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs543132380	chr9:97445741-97445742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs564893937	chr9:97445751-97445752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs532341623	chr9:97445801-97445802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540966597	chr9:97445857-97445858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186273845	chr9:97445858-97445859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs62580289	chr9:97445860-97445861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559641071	chr9:97445872-97445873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs527672330	chr9:97445877-97445878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191167913	chr9:97445916-97445917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs10821383	chr9:97445923-97445924	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs182637089	chr9:97445946-97445947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531804522	chr9:97445947-97445948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs186678222	chr9:97445957-97445958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs114343654	chr9:97446026-97446027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575678161	chr9:97446033-97446034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs527989454	chr9:97446082-97446083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191050582	chr9:97446125-97446126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs116677179	chr9:97446142-97446143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs73653638	chr9:97446146-97446147	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs535821621	chr9:97446158-97446159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Chordoma	18071362	CNVD
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
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	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
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Biliary cancer	19435499	CNVD
small cell lung cancer	20016488	CNVD
Intracranial aneurysm	16715129	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Basal cell nevus syndrome	21572526	CNVD
Mental retardation	19951919	CNVD
Retinoblastoma	22278416	CNVD
9q22.3 microdeletion syndrome	22283845	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Microcephaly	18830227	CNVD
overgrowth syndrome	16570072	CNVD
Effusion lymphoma	18079361	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1664 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97432200-97449800	Weak transcription	Right Atrium	heart
2	chr9:97438800-97449800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr9:97444000-97445400	Enhancers	Brain Substantia Nigra	brain
4	chr9:97444200-97447800	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr9:97444200-97448600	Weak transcription	Fetal Intestine Large	intestine
6	chr9:97444400-97445400	Weak transcription	Brain Angular Gyrus	brain
7	chr9:97444400-97447800	Weak transcription	NHDF-Ad	bronchial
8	chr9:97444400-97448000	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr9:97444400-97448200	Weak transcription	Osteobl	bone
10	chr9:97444400-97448400	Weak transcription	HepG2	liver
11	chr9:97444600-97445000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr9:97444600-97448400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr9:97444800-97445400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr9:97444800-97448600	Weak transcription	A549	lung
15	chr9:97445000-97445600	Enhancers	Brain Cingulate Gyrus	brain
16	chr9:97445400-97445800	Enhancers	Brain Angular Gyrus	brain
17	chr9:97445400-97448200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr9:97447800-97448000	Enhancers	NHDF-Ad	bronchial
19	chr9:97447800-97449200	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr9:97448000-97448400	Weak transcription	NHDF-Ad	bronchial
21	chr9:97448000-97448600	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr9:97448200-97448600	Enhancers	Osteobl	bone
23	chr9:97448200-97449000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr9:97448200-97450000	Enhancers	Small Intestine	intestine
25	chr9:97448400-97448800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr9:97448400-97449000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr9:97448400-97449000	Enhancers	Fetal Intestine Small	intestine
28	chr9:97448400-97449000	Enhancers	Stomach Mucosa	stomach
29	chr9:97448400-97449200	Enhancers	Liver	Liver
30	chr9:97448400-97449200	Enhancers	NHDF-Ad	bronchial
31	chr9:97448400-97451600	Enhancers	HepG2	liver
32	chr9:97448600-97449200	Enhancers	Fetal Intestine Large	intestine
33	chr9:97448600-97449800	Enhancers	A549	lung
34	chr9:97449000-97450200	Weak transcription	Fetal Intestine Small	intestine
35	chr9:97449200-97456200	Weak transcription	Fetal Intestine Large	intestine
36	chr9:97449800-97450000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr9:97449800-97450000	Enhancers	Right Atrium	heart
38	chr9:97449800-97454200	Weak transcription	A549	lung
39	chr9:97450000-97452800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr9:97451600-97454400	Weak transcription	HepG2	liver
41	chr9:97452800-97453200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr9:97453200-97454400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr9:97453400-97453600	Enhancers	Stomach Smooth Muscle	stomach
44	chr9:97453400-97454600	Weak transcription	Fetal Intestine Small	intestine
45	chr9:97453600-97454200	Weak transcription	Stomach Smooth Muscle	stomach
46	chr9:97454200-97454400	Enhancers	Stomach Smooth Muscle	stomach
47	chr9:97454200-97454600	Enhancers	A549	lung
48	chr9:97454200-97454800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr9:97454200-97457400	Enhancers	Fetal Stomach	stomach
50	chr9:97454400-97455000	Enhancers	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links