Variant report

Variant	nsv829924
Chromosome Location	chr4:47670905-47866665
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2391)
CpG islands
(count:1711)
Chromatin interactive
region (count:52)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2391 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:47670805-47671245	K562	blood:	n/a	chr4:47671147-47671163
2	ARID3A	chr4:47838667-47838904	HepG2	liver:	n/a	n/a
3	ARID3A	chr4:47688376-47688645	HepG2	liver:	n/a	n/a
4	ARID3A	chr4:47735208-47736035	HepG2	liver:	n/a	n/a
5	ARID3A	chr4:47751721-47752471	HepG2	liver:	n/a	n/a
6	ARID3A	chr4:47788705-47789130	HepG2	liver:	n/a	n/a
7	ARID3A	chr4:47707563-47707945	HepG2	liver:	n/a	n/a
8	ARID3A	chr4:47717974-47718536	HepG2	liver:	n/a	n/a
9	ATF2	chr4:47841134-47841615	GM12878	blood:	n/a	n/a
10	ATF2	chr4:47788986-47789548	GM12878	blood:	n/a	n/a
11	BACH1	chr4:47838507-47839363	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr4:47688351-47688734	H1-hESC	embryonic stem cell:	n/a	n/a
13	BATF	chr4:47732634-47732828	GM12878	blood:	n/a	n/a
14	BATF	chr4:47841192-47841573	GM12878	blood:	n/a	n/a
15	BATF	chr4:47692635-47692950	GM12878	blood:	n/a	n/a
16	BATF	chr4:47732587-47732811	GM12878	blood:	n/a	n/a
17	BCL11A	chr4:47789012-47789297	GM12878	blood:	n/a	n/a
18	BCL11A	chr4:47774153-47774426	GM12878	blood:	n/a	n/a
19	BCL11A	chr4:47788971-47789411	GM12878	blood:	n/a	chr4:47789308-47789317
20	BCL3	chr4:47864276-47864613	GM12878	blood:	n/a	n/a
21	BCLAF1	chr4:47838556-47839049	GM12878	blood:	n/a	n/a
22	BCLAF1	chr4:47841303-47841783	GM12878	blood:	n/a	chr4:47841559-47841568
23	BHLHE40	chr4:47706786-47707043	K562	blood:	n/a	n/a
24	BHLHE40	chr4:47732631-47732659	K562	blood:	n/a	n/a
25	BHLHE40	chr4:47688339-47688675	K562	blood:	n/a	n/a
26	BHLHE40	chr4:47789040-47789440	GM12878	blood:	n/a	n/a
27	BHLHE40	chr4:47670883-47671234	GM12878	blood:	n/a	n/a
28	BHLHE40	chr4:47735673-47736064	HepG2	liver:	n/a	n/a
29	BHLHE40	chr4:47670939-47671149	HepG2	liver:	n/a	n/a
30	BHLHE40	chr4:47706731-47707075	HepG2	liver:	n/a	n/a
31	BHLHE40	chr4:47826879-47827121	GM12878	blood:	n/a	n/a
32	BHLHE40	chr4:47688363-47688667	GM12878	blood:	n/a	n/a
33	BHLHE40	chr4:47774224-47774428	HepG2	liver:	n/a	n/a
34	BHLHE40	chr4:47838670-47839045	GM12878	blood:	n/a	n/a
35	BHLHE40	chr4:47670890-47671199	K562	blood:	n/a	n/a
36	BRCA1	chr4:47838679-47838785	HepG2	liver:	n/a	n/a
37	BRCA1	chr4:47805007-47805141	Hela-S3	cervix:	n/a	n/a
38	BRCA1	chr4:47753927-47753940	GM12878	blood:	n/a	n/a
39	BRCA1	chr4:47839031-47839121	H1-hESC	embryonic stem cell:	n/a	n/a
40	CEBPB	chr4:47751904-47752191	IMR90	lung:	n/a	chr4:47752049-47752060 chr4:47752049-47752062 chr4:47752051-47752062
41	CEBPB	chr4:47788369-47789337	HepG2	liver:	n/a	chr4:47789265-47789277 chr4:47788674-47788685
42	CEBPB	chr4:47700863-47701290	HepG2	liver:	n/a	chr4:47701088-47701099 chr4:47701042-47701053
43	CEBPB	chr4:47818828-47819169	IMR90	lung:	n/a	chr4:47818987-47818998
44	CEBPB	chr4:47751219-47751511	HepG2	liver:	n/a	n/a
45	CEBPB	chr4:47751863-47752295	HepG2	liver:	n/a	chr4:47752049-47752060 chr4:47752049-47752062 chr4:47752051-47752062
46	CEBPB	chr4:47751860-47752248	HepG2	liver:	n/a	chr4:47752049-47752060 chr4:47752049-47752062 chr4:47752051-47752062
47	CEBPB	chr4:47858816-47859020	K562	blood:	n/a	chr4:47858912-47858925 chr4:47858912-47858923 chr4:47858914-47858925
48	CEBPB	chr4:47700873-47701245	HepG2	liver:	n/a	chr4:47701088-47701099 chr4:47701042-47701053
49	CEBPB	chr4:47743242-47743506	Hela-S3	cervix:	n/a	chr4:47743350-47743361 chr4:47743299-47743310
50	CEBPB	chr4:47700937-47701163	Hela-S3	cervix:	n/a	chr4:47701088-47701099 chr4:47701042-47701053

(count:1711 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:47838169-47838219	RPTEC	kidney:	n/a
2	chr4:47710147-47710197	GM12892	blood:	n/a
3	chr4:47838616-47838666	HRPEpiC	eye:	n/a
4	chr4:47838169-47838219	RPTEC	kidney:	n/a
5	chr4:47710147-47710197	GM12892	blood:	n/a
6	chr4:47838616-47838666	HRPEpiC	eye:	n/a
7	chr4:47840011-47840061	AoSMC	blood vessel:	n/a
8	chr4:47839876-47839926	Jurkat	blood:	n/a
9	chr4:47865430-47865480	SAEC	small airway:	n/a
10	chr4:47839218-47839268	SK-N-SH	brain:	n/a
11	chr4:47710147-47710197	SAEC	small airway:	n/a
12	chr4:47839218-47839268	HCT-116	colon:	n/a
13	chr4:47838616-47838666	BE2_C	brain:	n/a
14	chr4:47839283-47839333	HEEpiC	esophagus:	n/a
15	chr4:47839283-47839333	GM19239	blood:	n/a
16	chr4:47708590-47708640	HepG2	liver:	n/a
17	chr4:47839218-47839268	HIPEpiC	eye:	n/a
18	chr4:47719380-47719430	AG04449	skin:	fetal
19	chr4:47840050-47840100	MCF10A-Er-Src	breast:	n/a
20	chr4:47845589-47845639	K562	blood:	n/a
21	chr4:47840095-47840145	HAEpiC	amniotic membrane:	n/a
22	chr4:47719380-47719430	Caco-2	colon:	n/a
23	chr4:47840095-47840145	Hela-S3	cervix:	n/a
24	chr4:47843915-47843965	ovcar-3	ovarian:	n/a
25	chr4:47838169-47838219	MCF10A-Er-Src	breast:	n/a
26	chr4:47845589-47845639	BE2_C	brain:	n/a
27	chr4:47854334-47854384	HRCEpiC	kidney:	n/a
28	chr4:47838670-47838720	T-47D	breast:	n/a
29	chr4:47708509-47708559	HCPEpiC	choroid plexus:	n/a
30	chr4:47707064-47707114	NH-A	brain:	n/a
31	chr4:47719380-47719430	Jurkat	blood:	n/a
32	chr4:47838616-47838666	RPTEC	kidney:	n/a
33	chr4:47840095-47840145	HCT-116	colon:	n/a
34	chr4:47719380-47719430	Hela-S3	cervix:	n/a
35	chr4:47806451-47806501	HAEpiC	amniotic membrane:	n/a
36	chr4:47838616-47838666	SK-N-SH	brain:	n/a
37	chr4:47769337-47769387	MCF10A-Er-Src	breast:	n/a
38	chr4:47840683-47840733	BE2_C	brain:	n/a
39	chr4:47843915-47843965	NB4	blood:	n/a
40	chr4:47840683-47840733	Hepatocyte	liver:	n/a
41	chr4:47840162-47840212	MCF10A-Er-Src	breast:	n/a
42	chr4:47707064-47707114	AG09309	skin:	n/a
43	chr4:47837775-47837825	HRCEpiC	kidney:	n/a
44	chr4:47838169-47838219	NHBE	bronchial:	n/a
45	chr4:47839283-47839333	HMEC	breast:	n/a
46	chr4:47840011-47840061	PrEC	prostate:	n/a
47	chr4:47840683-47840733	SK-N-MC	brain:	n/a
48	chr4:47769337-47769387	GM12892	blood:	n/a
49	chr4:47840095-47840145	HCPEpiC	choroid plexus:	n/a
50	chr4:47708590-47708640	SK-N-SH_RA	brain:	n/a

(count:52 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr4:47670607..47671485-chr4:47706644..47707642,3	MCF-7	breast:
2	chr4:47688063..47688915-chr4:47838342..47839484,4	MCF-7	breast:
3	chr4:47691917..47693928-chr4:47696448..47699124,2	MCF-7	breast:
4	chr4:47818744..47821029-chr4:47839898..47842458,2	K562	blood:
5	chr4:47706419..47708274-chr4:47838366..47839313,9	MCF-7	breast:
6	chr4:47686925..47689964-chr4:47690624..47694621,3	K562	blood:
7	chr4:47688906..47691612-chr4:47692853..47694990,2	K562	blood:
8	chr4:47681469..47683085-chr4:47695089..47697198,2	MCF-7	breast:
9	chr4:47707242..47709385-chr4:47710417..47712148,2	MCF-7	breast:
10	chr4:47688063..47688915-chr4:47838342..47839484,4	MCF-7	breast:
11	chr4:47706404..47706962-chr4:48089093..48089631,2	MCF-7	breast:
12	chr4:47681469..47683085-chr4:47695089..47697198,2	MCF-7	breast:
13	chr4:47845768..47847720-chr4:47850595..47852586,2	MCF-7	breast:
14	chr4:47856515..47858025-chr4:47868614..47870377,2	K562	blood:
15	chr4:47784622..47786268-chr4:47828748..47830719,2	K562	blood:
16	chr4:47688906..47691612-chr4:47692853..47694990,2	K562	blood:
17	chr4:47792582..47794260-chr4:47794493..47796071,2	K562	blood:
18	chr4:47837985..47840233-chr4:47840589..47843103,2	MCF-7	breast:
19	chr4:47688052..47688948-chr4:48088860..48089367,2	K562	blood:
20	chr4:47843029..47844670-chr4:47907030..47909401,2	K562	blood:
21	chr4:47707683..47708302-chr4:47841300..47841809,2	MCF-7	breast:
22	chr4:47784622..47786268-chr4:47828748..47830719,2	K562	blood:
23	chr4:47681357..47683442-chr4:47686923..47688767,2	K562	blood:
24	chr4:47706836..47707551-chr4:47840198..47840747,2	MCF-7	breast:
25	chr4:47706546..47707227-chr4:48088499..48089380,2	MCF-7	breast:
26	chr4:47664704..47666852-chr4:47669426..47672146,2	K562	blood:
27	chr4:47857858..47861058-chr4:47906882..47908675,3	MCF-7	breast:
28	chr4:47681357..47683442-chr4:47686923..47688767,2	K562	blood:
29	chr4:47688307..47688945-chr4:47841076..47841947,3	MCF-7	breast:
30	chr4:47830463..47833080-chr4:47836939..47838798,2	K562	blood:
31	chr4:47688611..47689443-chr4:47936530..47937494,2	K562	blood:
32	chr4:47825378..47827547-chr4:47837462..47840177,2	K562	blood:
33	chr4:47844982..47848045-chr4:47848832..47852694,3	K562	blood:
34	chr4:47706419..47708274-chr4:47838366..47839313,9	MCF-7	breast:
35	chr4:47691917..47693928-chr4:47696448..47699124,2	MCF-7	breast:
36	chr4:47833491..47836348-chr4:47838465..47840542,2	K562	blood:
37	chr4:47830877..47834399-chr4:47836493..47839965,4	MCF-7	breast:
38	chr4:47707683..47708302-chr4:47841300..47841809,2	MCF-7	breast:
39	chr4:47749490..47752397-chr4:47755183..47756959,2	K562	blood:
40	chr4:47792582..47794260-chr4:47794493..47796071,2	K562	blood:
41	chr4:47706456..47708112-chr4:47838146..47839411,13	MCF-7	breast:
42	chr4:47686925..47689964-chr4:47690624..47694621,3	K562	blood:
43	chr4:47706836..47707551-chr4:47840198..47840747,2	MCF-7	breast:
44	chr4:47706458..47708260-chr4:47841005..47842113,10	MCF-7	breast:
45	chr4:47851196..47853833-chr4:47870828..47872465,2	K562	blood:
46	chr4:47688037..47688961-chr4:47935651..47936484,4	K562	blood:
47	chr4:47749490..47752397-chr4:47755183..47756959,2	K562	blood:
48	chr4:47830463..47833080-chr4:47836939..47838798,2	K562	blood:
49	chr4:47706458..47708260-chr4:47841005..47842113,10	MCF-7	breast:
50	chr4:47670607..47671485-chr4:47706644..47707642,3	MCF-7	breast:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NIPAL1-3	chr4:47833186-47833525	NONHSAT096263
2	lnc-NIPAL1-2	chr4:47841939-47846867	NONHSAT096267
3	lnc-CORIN-1	chr4:47842139-47846356	ENSG00000259959.1
4	lnc-NIPAL1-3	chr4:47833186-47833525	NONHSAT096264
5	lnc-NIPAL1-3	chr4:47833186-47833525	NONHSAT096265

No data

Variant related genes	Relation type
ENSG00000259959	TF binding region
NFXL1	TF binding region
RN7SKP215	TF binding region
ENSG00000242262	TF binding region
CORIN	TF binding region
ENSG00000259959	CpG island
NFXL1	CpG island
RN7SKP215	CpG island
ENSG00000242262	CpG island
CORIN	CpG island
ENSG00000259959	chromatin interactions
ENSG00000145244	chromatin interactions
ENSG00000242262	chromatin interactions

Extended variants
information (count: 6962 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:6962 , 50 per page) page: 1 2 3 4 5 6 7 ... 140

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557027037	chr4:47670923-47670924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs545666749	chr4:47670950-47670951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs557524190	chr4:47670977-47670978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs117871630	chr4:47670989-47670990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542711771	chr4:47671032-47671033	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs34196303	chr4:47671042-47671043	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560792071	chr4:47671100-47671101	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528089719	chr4:47671109-47671110	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs61760493	chr4:47671137-47671138	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373809551	chr4:47671167-47671168	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs63467260	chr4:47671171-47671172	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs144667161	chr4:47671180-47671181	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187830091	chr4:47671191-47671192	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs148172887	chr4:47671223-47671224	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs377422716	chr4:47671230-47671231	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs569041851	chr4:47671251-47671252	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543730277	chr4:47671256-47671257	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs34349332	chr4:47671267-47671268	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs192313001	chr4:47671278-47671279	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs141980640	chr4:47671279-47671280	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184516902	chr4:47671286-47671287	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535047007	chr4:47671319-47671320	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555732133	chr4:47671368-47671369	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs572014249	chr4:47671391-47671392	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112030941	chr4:47671426-47671427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541196445	chr4:47671459-47671460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559512106	chr4:47671515-47671516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs146126038	chr4:47671529-47671530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188879857	chr4:47671530-47671531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542818216	chr4:47671538-47671539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs71654880	chr4:47671570-47671571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs67123208	chr4:47671571-47671572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111368309	chr4:47671575-47671576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs199679587	chr4:47671586-47671587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551266474	chr4:47671587-47671588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192927233	chr4:47671598-47671599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs184598682	chr4:47671600-47671601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs71614004	chr4:47671602-47671603	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs570181754	chr4:47671617-47671618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189555587	chr4:47671648-47671649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs143793126	chr4:47671671-47671672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531938947	chr4:47671706-47671707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs180794416	chr4:47671710-47671711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs562607830	chr4:47671728-47671729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs537460372	chr4:47671733-47671734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs10029980	chr4:47671742-47671743	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs549244761	chr4:47671794-47671795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs368249662	chr4:47671799-47671800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113857429	chr4:47671802-47671803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs187626986	chr4:47671830-47671831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Olfactory neuroblastoma	18408657	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	16616336	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Renal cell carcinoma	18765545	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Melanoma	20877625	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:1726 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:47644400-47681400	Weak transcription	Left Ventricle	heart
2	chr4:47646400-47707400	Weak transcription	Right Ventricle	heart
3	chr4:47653400-47703200	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr4:47667600-47672200	Weak transcription	Fetal Heart	heart
5	chr4:47671000-47671200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr4:47671000-47671200	Active TSS	Fetal Lung	lung
7	chr4:47671000-47671200	Enhancers	NHLF	lung
8	chr4:47671000-47671400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr4:47671200-47671400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr4:47671200-47671400	Flanking Active TSS	Fetal Lung	lung
11	chr4:47671800-47672600	Enhancers	HSMMtube	muscle
12	chr4:47672200-47673400	Enhancers	Fetal Heart	heart
13	chr4:47672400-47672800	Enhancers	HSMM	muscle
14	chr4:47672600-47672800	Enhancers	Aorta	Aorta
15	chr4:47672600-47677400	Weak transcription	HSMMtube	muscle
16	chr4:47673400-47692600	Weak transcription	Fetal Heart	heart
17	chr4:47674400-47675000	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr4:47675800-47676600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr4:47675800-47676600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr4:47675800-47676600	Enhancers	Fetal Brain Female	brain
21	chr4:47675800-47676800	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr4:47676000-47676200	Enhancers	HMEC	breast
23	chr4:47676200-47676600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr4:47676200-47676600	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr4:47676200-47676600	Flanking Active TSS	HMEC	breast
26	chr4:47676200-47676600	Enhancers	NHEK	skin
27	chr4:47676200-47676800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr4:47676400-47676600	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr4:47681400-47682200	Strong transcription	Left Ventricle	heart
30	chr4:47681800-47682000	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
31	chr4:47682000-47682400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr4:47682200-47694800	Weak transcription	Left Ventricle	heart
33	chr4:47685600-47685800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr4:47688200-47688600	Enhancers	Fetal Brain Male	brain
35	chr4:47688600-47690200	Enhancers	Liver	Liver
36	chr4:47692600-47692800	Enhancers	Right Atrium	heart
37	chr4:47692600-47693600	Enhancers	Fetal Heart	heart
38	chr4:47693600-47694600	Enhancers	HUVEC	blood vessel
39	chr4:47693600-47696400	Weak transcription	Fetal Heart	heart
40	chr4:47693800-47695200	Enhancers	Fetal Lung	lung
41	chr4:47694400-47695000	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr4:47694800-47695000	Enhancers	Esophagus	oesophagus
43	chr4:47694800-47695000	Enhancers	Left Ventricle	heart
44	chr4:47694800-47695000	Enhancers	Pancreas	Pancrea
45	chr4:47694800-47695000	Enhancers	Right Atrium	heart
46	chr4:47695000-47696400	Weak transcription	Left Ventricle	heart
47	chr4:47695000-47696400	Weak transcription	Pancreas	Pancrea
48	chr4:47696400-47696600	Enhancers	Fetal Heart	heart
49	chr4:47696400-47696600	Enhancers	Pancreas	Pancrea
50	chr4:47696400-47696800	Enhancers	Left Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links