Variant report

Variant	nsv393
Chromosome Location	chr11:74135862-74181417
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1080)
CpG islands
(count:1037)
Chromatin interactive
region (count:68)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1080 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:74148513-74148787	K562	blood:	n/a	n/a
2	ARID3A	chr11:74164479-74164758	K562	blood:	n/a	n/a
3	ARID3A	chr11:74160458-74160641	HepG2	liver:	n/a	n/a
4	ARID3A	chr11:74170610-74171034	K562	blood:	n/a	n/a
5	ARID3A	chr11:74171281-74171428	K562	blood:	n/a	n/a
6	ARID3A	chr11:74164481-74164749	HepG2	liver:	n/a	n/a
7	ATF1	chr11:74148465-74148864	K562	blood:	n/a	n/a
8	ATF1	chr11:74170581-74170935	K562	blood:	n/a	n/a
9	ATF3	chr11:74148495-74148792	K562	blood:	n/a	n/a
10	ATF3	chr11:74173074-74173470	K562	blood:	n/a	n/a
11	BACH1	chr11:74173264-74173522	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr11:74178080-74178552	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr11:74171502-74172133	K562	blood:	n/a	n/a
14	BCLAF1	chr11:74164392-74164764	GM12878	blood:	n/a	n/a
15	BHLHE40	chr11:74164471-74164724	K562	blood:	n/a	n/a
16	BHLHE40	chr11:74171848-74172066	K562	blood:	n/a	n/a
17	BHLHE40	chr11:74171172-74171329	K562	blood:	n/a	n/a
18	BHLHE40	chr11:74172864-74173438	K562	blood:	n/a	chr11:74173301-74173317
19	BHLHE40	chr11:74170673-74170950	K562	blood:	n/a	n/a
20	BRCA1	chr11:74160468-74160757	H1-hESC	embryonic stem cell:	n/a	n/a
21	CBX3	chr11:74170551-74170938	K562	blood:	n/a	n/a
22	CBX3	chr11:74160241-74160937	HCT-116	colon:	n/a	n/a
23	CBX3	chr11:74136151-74136469	K562	blood:	n/a	n/a
24	CBX3	chr11:74151564-74151931	K562	blood:	n/a	n/a
25	CBX3	chr11:74154094-74154564	HCT-116	colon:	n/a	n/a
26	CBX3	chr11:74172967-74173440	K562	blood:	n/a	n/a
27	CBX3	chr11:74148446-74148811	K562	blood:	n/a	n/a
28	CCNT2	chr11:74171849-74172200	K562	blood:	n/a	n/a
29	CCNT2	chr11:74170572-74170855	K562	blood:	n/a	n/a
30	CEBPB	chr11:74172883-74173487	K562	blood:	n/a	chr11:74173241-74173252 chr11:74173242-74173253
31	CEBPB	chr11:74148492-74148717	K562	blood:	n/a	n/a
32	CEBPB	chr11:74173016-74173470	A549	lung:	n/a	chr11:74173241-74173252 chr11:74173242-74173253
33	CEBPB	chr11:74141924-74142192	A549	lung:	n/a	chr11:74142061-74142072
34	CEBPB	chr11:74173037-74173473	HepG2	liver:	n/a	chr11:74173241-74173252 chr11:74173242-74173253
35	CEBPB	chr11:74141923-74142234	IMR90	lung:	n/a	chr11:74142061-74142072
36	CEBPB	chr11:74173047-74173444	Hela-S3	cervix:	n/a	chr11:74173241-74173252 chr11:74173242-74173253
37	CEBPB	chr11:74172987-74173439	MCF-7	breast:	n/a	chr11:74173241-74173252 chr11:74173242-74173253
38	CEBPB	chr11:74173015-74173453	A549	lung:	n/a	chr11:74173241-74173252 chr11:74173242-74173253
39	CEBPB	chr11:74173050-74173379	HepG2	liver:	n/a	chr11:74173241-74173252 chr11:74173242-74173253
40	CEBPB	chr11:74141938-74142214	HepG2	liver:	n/a	chr11:74142061-74142072
41	CEBPB	chr11:74172846-74173454	K562	blood:	n/a	chr11:74173241-74173252 chr11:74173242-74173253
42	CEBPB	chr11:74173041-74173458	ECC-1	luminal epithelium:	n/a	chr11:74173241-74173252 chr11:74173242-74173253
43	CEBPB	chr11:74145856-74145859	A549	lung:	n/a	n/a
44	CEBPB	chr11:74173035-74173456	HepG2	liver:	n/a	chr11:74173241-74173252 chr11:74173242-74173253
45	CEBPB	chr11:74153599-74153890	IMR90	lung:	n/a	n/a
46	CEBPB	chr11:74141907-74142218	Hela-S3	cervix:	n/a	chr11:74142061-74142072
47	CEBPB	chr11:74173073-74173436	K562	blood:	n/a	chr11:74173241-74173252 chr11:74173242-74173253
48	CEBPB	chr11:74160534-74160897	IMR90	lung:	n/a	chr11:74160687-74160698
49	CEBPB	chr11:74170236-74170933	K562	blood:	n/a	chr11:74170849-74170866
50	CEBPB	chr11:74172995-74173474	MCF-7	breast:	n/a	chr11:74173241-74173252 chr11:74173242-74173253

(count:1037 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:74178800-74178850	AoSMC	blood vessel:	n/a
2	chr11:74178749-74178799	PrEC	prostate:	n/a
3	chr11:74178749-74178799	RPTEC	kidney:	n/a
4	chr11:74178684-74178734	NHDF-neo	bronchial:	n/a
5	chr11:74172851-74172901	HRPEpiC	eye:	n/a
6	chr11:74154543-74154593	AG09319	gingival:	n/a
7	chr11:74178749-74178799	T-47D	breast:	n/a
8	chr11:74178795-74178845	AG04449	skin:	fetal
9	chr11:74161010-74161060	NB4	blood:	n/a
10	chr11:74178800-74178850	HAEpiC	amniotic membrane:	n/a
11	chr11:74167536-74167586	HRE	kidney:	n/a
12	chr11:74178883-74178933	HCM	heart:	n/a
13	chr11:74178268-74178318	Hela-S3	cervix:	n/a
14	chr11:74178883-74178933	Hepatocyte	liver:	n/a
15	chr11:74161010-74161060	GM12878	blood:	n/a
16	chr11:74179054-74179104	MCF-7	breast:	n/a
17	chr11:74178268-74178318	Jurkat	blood:	n/a
18	chr11:74172851-74172901	BE2_C	brain:	n/a
19	chr11:74178761-74178811	BJ	skin:	n/a
20	chr11:74178268-74178318	A549	lung:	n/a
21	chr11:74178462-74178512	PANC-1	pancreas:	n/a
22	chr11:74178749-74178799	CMK	blood:	n/a
23	chr11:74179054-74179104	HEEpiC	esophagus:	n/a
24	chr11:74174750-74174800	NT2-D1	testis:	n/a
25	chr11:74161010-74161060	ProgFib	skin:	n/a
26	chr11:74178761-74178811	HCM	heart:	n/a
27	chr11:74154543-74154593	SK-N-SH	brain:	n/a
28	chr11:74178684-74178734	MCF-7	breast:	n/a
29	chr11:74167536-74167586	AG04449	skin:	fetal
30	chr11:74178883-74178933	AG09309	skin:	n/a
31	chr11:74178268-74178318	HRCEpiC	kidney:	n/a
32	chr11:74178114-74178164	SK-N-MC	brain:	n/a
33	chr11:74178462-74178512	HRCEpiC	kidney:	n/a
34	chr11:74178761-74178811	HNPCEpiC	eye:	n/a
35	chr11:74146974-74147024	CMK	blood:	n/a
36	chr11:74178684-74178734	SK-N-MC	brain:	n/a
37	chr11:74178684-74178734	AG04450	lung:	fetal
38	chr11:74168469-74168519	PFSK-1	brain:	n/a
39	chr11:74178462-74178512	ProgFib	skin:	n/a
40	chr11:74178800-74178850	SK-N-MC	brain:	n/a
41	chr11:74161010-74161060	AG04449	skin:	fetal
42	chr11:74167536-74167586	HEEpiC	esophagus:	n/a
43	chr11:74178684-74178734	MCF10A-Er-Src	breast:	n/a
44	chr11:74178114-74178164	Caco-2	colon:	n/a
45	chr11:74178268-74178318	HCT-116	colon:	n/a
46	chr11:74179054-74179104	IMR90	lung:	fetal
47	chr11:74178749-74178799	GM19239	blood:	n/a
48	chr11:74172851-74172901	AG09319	gingival:	n/a
49	chr11:74174750-74174800	BE2_C	brain:	n/a
50	chr11:74172851-74172901	HMEC	breast:	n/a

(count:68 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr11:74167023..74169385-chr11:74232064..74233939,2	K562	blood:
2	chr11:74171659..74173234-chr11:74174907..74176791,2	MCF-7	breast:
3	chr11:73966574..73967455-chr11:74160091..74161097,4	MCF-7	breast:
4	chr11:74158500..74159020-chr15:74189423..74190151,3	MCF-7	breast:
5	chr11:74107780..74112076-chr11:74138285..74145600,7	MCF-7	breast:
6	chr11:74108080..74110409-chr11:74141431..74143686,2	MCF-7	breast:
7	chr11:74171843..74173907-chr11:74203180..74205587,3	MCF-7	breast:
8	chr11:74099605..74100422-chr11:74153909..74154835,7	MCF-7	breast:
9	chr11:74163738..74165354-chr11:74281298..74282640,17	MCF-7	breast:
10	chr11:74175333..74177141-chr11:74189553..74191217,2	K562	blood:
11	chr11:74164086..74165074-chr11:74281488..74282054,2	MCF-7	breast:
12	chr11:74153484..74156082-chr11:74157168..74159879,2	K562	blood:
13	chr11:74159443..74161809-chr11:74164046..74166126,2	K562	blood:
14	chr11:74099388..74100488-chr11:74160054..74161057,5	MCF-7	breast:
15	chr11:74147853..74150275-chr11:74150920..74154389,3	K562	blood:
16	chr11:74108484..74111534-chr11:74133816..74136731,4	MCF-7	breast:
17	chr11:74175244..74178880-chr11:74203216..74205739,4	MCF-7	breast:
18	chr11:74152449..74154476-chr11:74156182..74158216,2	MCF-7	breast:
19	chr11:74164096..74165130-chr11:74281232..74282332,9	K562	blood:
20	chr11:73966546..73967510-chr11:74160064..74160802,4	K562	blood:
21	chr11:74108899..74110486-chr11:74151287..74153757,2	MCF-7	breast:
22	chr11:73691033..73694004-chr11:74159559..74161511,2	MCF-7	breast:
23	chr11:73659948..73660516-chr11:74163796..74164632,2	K562	blood:
24	chr11:74176347..74178704-chr11:74203526..74206053,3	K562	blood:
25	chr11:74108600..74111383-chr11:74152439..74157109,6	MCF-7	breast:
26	chr11:74138649..74141159-chr11:74159030..74161938,2	MCF-7	breast:
27	chr11:74167620..74168284-chr11:74281313..74281821,2	K562	blood:
28	chr11:74099650..74100358-chr11:74160062..74160991,4	MCF-7	breast:
29	chr11:74138649..74141159-chr11:74159030..74161938,2	MCF-7	breast:
30	chr11:74169160..74171524-chr11:74183873..74185733,2	MCF-7	breast:
31	chr11:74164577..74165120-chr11:74214878..74215449,2	MCF-7	breast:
32	chr11:74143518..74145498-chr11:74146789..74148395,2	K562	blood:
33	chr11:74108842..74109637-chr11:74164212..74165105,2	K562	blood:
34	chr11:74166040..74168250-chr11:74170163..74172017,2	K562	blood:
35	chr11:74175366..74177621-chr11:74184353..74186919,2	MCF-7	breast:
36	chr11:73966906..73967494-chr11:74162661..74163221,2	MCF-7	breast:
37	chr11:74130274..74132953-chr11:74151394..74153673,3	MCF-7	breast:
38	chr11:74169434..74171017-chr11:74173268..74174890,2	K562	blood:
39	chr11:74160030..74161054-chr11:74281227..74282229,3	K562	blood:
40	chr11:74153484..74156082-chr11:74157168..74159879,2	K562	blood:
41	chr11:74169555..74172210-chr11:74251230..74253600,2	K562	blood:
42	chr11:74169876..74171653-chr11:74203244..74205851,2	MCF-7	breast:
43	chr11:74163207..74164720-chr11:74203398..74205780,2	MCF-7	breast:
44	chr11:74100543..74103930-chr11:74153911..74157152,3	MCF-7	breast:
45	chr11:74155193..74158108-chr11:74170672..74173551,2	K562	blood:
46	chr11:74152449..74154476-chr11:74156182..74158216,2	MCF-7	breast:
47	chr11:74169758..74172325-chr11:74204191..74206118,2	K562	blood:
48	chr11:74178947..74181587-chr11:74185262..74186859,2	K562	blood:
49	chr11:74166571..74169305-chr11:74204355..74205911,2	MCF-7	breast:
50	chr11:74170865..74173373-chr11:74203287..74204858,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-POLD3-2	chr11:74166393-74166817	ENSG00000254928.1
2	lnc-POLD3-2	chr11:74167687-74167870	ENSG00000254928.1
3	lnc-POLD3-4	chr11:74139378-74139610	ENSG00000254631.1

No data

Variant related genes	Relation type
ENSG00000254928	TF binding region
KCNE3	TF binding region
ENSG00000254928	CpG island
KCNE3	CpG island
ENSG00000175538	chromatin interactions
ENSG00000254928	chromatin interactions
ENSG00000175567	chromatin interactions
ENSG00000254631	chromatin interactions
ENSG00000149380	chromatin interactions
ENSG00000165434	chromatin interactions
ENSG00000254837	chromatin interactions
ENSG00000077514	chromatin interactions
ENSG00000264402	chromatin interactions
ENSG00000175536	chromatin interactions

Extended variants
information (count: 1752 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:1752 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569928505	chr11:74135910-74135911	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs2509535	chr11:74135915-74135916	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs554275924	chr11:74135916-74135917	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs199842530	chr11:74135955-74135956	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs113305000	chr11:74135970-74135971	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs373457176	chr11:74136025-74136026	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs35215042	chr11:74136047-74136048	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs78145606	chr11:74136048-74136049	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs78633329	chr11:74136049-74136050	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs201198929	chr11:74136062-74136063	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs145167498	chr11:74136065-74136066	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs181710389	chr11:74136110-74136111	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs539884763	chr11:74136128-74136129	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs574611220	chr11:74136162-74136163	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs78416599	chr11:74136183-74136184	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs577018335	chr11:74136196-74136197	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs140575439	chr11:74136222-74136223	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs562510716	chr11:74136223-74136224	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs531564580	chr11:74136273-74136274	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs541881849	chr11:74136277-74136278	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs554347803	chr11:74136286-74136287	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs542327692	chr11:74136316-74136317	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs562203512	chr11:74136345-74136346	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs145641555	chr11:74136434-74136435	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs547425504	chr11:74136492-74136493	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs570832501	chr11:74136495-74136496	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs533422070	chr11:74136505-74136506	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs138121633	chr11:74136523-74136524	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs187116632	chr11:74136562-74136563	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs535688593	chr11:74136563-74136564	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs189438718	chr11:74136567-74136568	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs567864460	chr11:74136617-74136618	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs543201738	chr11:74136630-74136631	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs533892527	chr11:74136708-74136709	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs642500	chr11:74136715-74136716	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs520837	chr11:74136749-74136750	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs520701	chr11:74136794-74136795	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs556530811	chr11:74136809-74136810	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs642033	chr11:74136824-74136825	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs11236102	chr11:74136848-74136849	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs561865430	chr11:74136852-74136853	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs527743501	chr11:74136877-74136878	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs541527607	chr11:74136892-74136893	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs527250678	chr11:74136901-74136902	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs564292311	chr11:74136905-74136906	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs181348413	chr11:74136916-74136917	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs1785514	chr11:74136949-74136950	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs113691813	chr11:74136973-74136974	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs629591	chr11:74137006-74137007	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs537323113	chr11:74137023-74137024	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Glioblastoma multiforme	21080181	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chordoma	21602918	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	18172304	CNVD
Breast cancer	21806811	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
lymphocytic leukemia	21291569	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	21364760	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	17550852	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	16616336	CNVD
Urothelial cell carcinoma	18451213	CNVD
Leukoplakia	24403051	CNVD
Prostate cancer	17217626	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:960 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74129400-74138600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:74129400-74141000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr11:74130400-74140200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:74137600-74139000	Enhancers	HUVEC	blood vessel
5	chr11:74138200-74138800	Enhancers	Muscle Satellite Cultured Cells	--
6	chr11:74138600-74138800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:74138600-74138800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr11:74138600-74139000	Enhancers	Osteobl	bone
9	chr11:74138800-74161600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr11:74140200-74140400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr11:74144200-74149000	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr11:74144800-74153800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr11:74145400-74146200	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr11:74145600-74146200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr11:74145600-74146400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr11:74145600-74146400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr11:74145600-74146400	Enhancers	Fetal Intestine Small	intestine
18	chr11:74145600-74146600	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr11:74146000-74146400	Enhancers	Osteobl	bone
20	chr11:74146000-74146800	Enhancers	Colonic Mucosa	Colon
21	chr11:74146000-74147800	Enhancers	Rectal Mucosa Donor 29	rectum
22	chr11:74146400-74148000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr11:74146400-74148000	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr11:74146400-74148400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr11:74146400-74148600	Weak transcription	Osteobl	bone
26	chr11:74146400-74153200	Weak transcription	Fetal Intestine Small	intestine
27	chr11:74146600-74152600	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr11:74146800-74147200	Weak transcription	Colonic Mucosa	Colon
29	chr11:74147200-74147800	Enhancers	Colonic Mucosa	Colon
30	chr11:74147400-74149400	Enhancers	K562	blood
31	chr11:74147600-74149200	Enhancers	HUVEC	blood vessel
32	chr11:74147800-74153000	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr11:74148000-74148200	Enhancers	Muscle Satellite Cultured Cells	--
34	chr11:74148000-74148400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr11:74148000-74149000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr11:74148200-74148600	Enhancers	Hela-S3	cervix
37	chr11:74148200-74148600	Enhancers	HSMMtube	muscle
38	chr11:74148200-74148800	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr11:74148200-74149000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr11:74148200-74149000	Enhancers	NH-A	brain
41	chr11:74148400-74148800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr11:74148400-74148800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr11:74148400-74154000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr11:74148600-74149000	Enhancers	Osteobl	bone
45	chr11:74148600-74153600	Weak transcription	Hela-S3	cervix
46	chr11:74148600-74154200	Weak transcription	HSMMtube	muscle
47	chr11:74148800-74149000	Enhancers	Muscle Satellite Cultured Cells	--
48	chr11:74149000-74152400	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr11:74149000-74153400	Weak transcription	NH-A	brain
50	chr11:74149000-74153600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links