Variant report

Variant	esv1799736
Chromosome Location	chr5:14136404-14145204
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:935)
CpG islands
(count:549)
Chromatin interactive
region (count:30)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:935 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:14141912-14142259	HepG2	liver:	n/a	n/a
2	ARID3A	chr5:14144938-14144966	HepG2	liver:	n/a	n/a
3	ARID3A	chr5:14143077-14143562	HepG2	liver:	n/a	n/a
4	ATF2	chr5:14145113-14145535	GM12878	blood:	n/a	n/a
5	ATF2	chr5:14145080-14145609	GM12878	blood:	n/a	n/a
6	BACH1	chr5:14144398-14144990	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr5:14143037-14143597	H1-hESC	embryonic stem cell:	n/a	n/a
8	BCL3	chr5:14142882-14143398	A549	lung:	n/a	n/a
9	BCL3	chr5:14143018-14143673	GM12878	blood:	n/a	chr5:14143604-14143613 chr5:14143475-14143488 chr5:14143474-14143487
10	BCL3	chr5:14145114-14145573	A549	lung:	n/a	chr5:14145205-14145218
11	BCLAF1	chr5:14145089-14145716	GM12878	blood:	n/a	chr5:14145205-14145218
12	BCLAF1	chr5:14142614-14143373	GM12878	blood:	n/a	n/a
13	BCLAF1	chr5:14145114-14145577	GM12878	blood:	n/a	chr5:14145205-14145218
14	BCLAF1	chr5:14143992-14144718	GM12878	blood:	n/a	chr5:14144181-14144194 chr5:14144351-14144360 chr5:14144106-14144119 chr5:14144200-14144213 chr5:14144185-14144198
15	BHLHE40	chr5:14143205-14143641	K562	blood:	n/a	chr5:14143474-14143490 chr5:14143558-14143574 chr5:14143567-14143583
16	BHLHE40	chr5:14144461-14145538	GM12878	blood:	n/a	n/a
17	BHLHE40	chr5:14142567-14143793	GM12878	blood:	n/a	chr5:14143474-14143490 chr5:14143558-14143574 chr5:14143567-14143583
18	BHLHE40	chr5:14142954-14143608	HepG2	liver:	n/a	chr5:14143474-14143490 chr5:14143558-14143574 chr5:14143567-14143583
19	BHLHE40	chr5:14144767-14144982	HepG2	liver:	n/a	n/a
20	BRCA1	chr5:14144817-14145106	GM12878	blood:	n/a	n/a
21	BRCA1	chr5:14142760-14143520	Hela-S3	cervix:	n/a	n/a
22	BRCA1	chr5:14143174-14143429	GM12878	blood:	n/a	n/a
23	BRCA1	chr5:14144821-14145058	H1-hESC	embryonic stem cell:	n/a	n/a
24	BRCA1	chr5:14142782-14143164	H1-hESC	embryonic stem cell:	n/a	n/a
25	BRCA1	chr5:14144368-14144402	GM12878	blood:	n/a	n/a
26	BRCA1	chr5:14144776-14145869	Hela-S3	cervix:	n/a	n/a
27	BRCA1	chr5:14144788-14145070	HepG2	liver:	n/a	n/a
28	CBX3	chr5:14142880-14143279	K562	blood:	n/a	n/a
29	CCNT2	chr5:14143883-14144187	K562	blood:	n/a	n/a
30	CCNT2	chr5:14142989-14143647	K562	blood:	n/a	chr5:14143427-14143436 chr5:14143278-14143287 chr5:14143273-14143282
31	CEBPB	chr5:14143007-14143569	Hela-S3	cervix:	n/a	n/a
32	CEBPB	chr5:14145191-14145541	Hela-S3	cervix:	n/a	n/a
33	CHD1	chr5:14142844-14143368	H1-hESC	embryonic stem cell:	n/a	n/a
34	CHD1	chr5:14145102-14146013	GM12878	blood:	n/a	n/a
35	CHD1	chr5:14142902-14143644	GM12878	blood:	n/a	chr5:14143427-14143437
36	CHD1	chr5:14144011-14144890	GM12878	blood:	n/a	chr5:14144154-14144164
37	CHD1	chr5:14143996-14144685	H1-hESC	embryonic stem cell:	n/a	chr5:14144154-14144164
38	CHD2	chr5:14143136-14143547	HepG2	liver:	n/a	chr5:14143427-14143437
39	CHD2	chr5:14142652-14142654	HepG2	liver:	n/a	n/a
40	CHD2	chr5:14143387-14143586	K562	blood:	n/a	chr5:14143427-14143437
41	CHD2	chr5:14142989-14143503	H1-hESC	embryonic stem cell:	n/a	chr5:14143427-14143437
42	CHD2	chr5:14142952-14145681	Hela-S3	cervix:	n/a	chr5:14144154-14144164 chr5:14144921-14144931 chr5:14143427-14143437 chr5:14144974-14144984
43	CHD2	chr5:14144549-14145167	HepG2	liver:	n/a	chr5:14144921-14144931 chr5:14144974-14144984
44	CHD2	chr5:14144759-14145054	H1-hESC	embryonic stem cell:	n/a	chr5:14144921-14144931 chr5:14144974-14144984
45	CHD2	chr5:14143917-14144094	GM12878	blood:	n/a	n/a
46	CHD2	chr5:14142639-14143568	GM12878	blood:	n/a	chr5:14143427-14143437
47	CHD2	chr5:14144407-14145687	GM12878	blood:	n/a	chr5:14144921-14144931 chr5:14144974-14144984
48	CREB1	chr5:14143832-14144501	A549	lung:	n/a	n/a
49	CREB1	chr5:14142760-14143466	H1-hESC	embryonic stem cell:	n/a	n/a
50	CREB1	chr5:14142815-14143715	A549	lung:	n/a	n/a

(count:549 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:14143304-14143354	Hela-S3	cervix:	n/a
2	chr5:14144123-14144173	HUVEC	blood vessel:	n/a
3	chr5:14144123-14144173	MCF10A-Er-Src	breast:	n/a
4	chr5:14140016-14140066	GM12878	blood:	n/a
5	chr5:14143207-14143257	NH-A	brain:	n/a
6	chr5:14144425-14144475	HUVEC	blood vessel:	n/a
7	chr5:14143221-14143271	HMEC	breast:	n/a
8	chr5:14143221-14143271	HAEpiC	amniotic membrane:	n/a
9	chr5:14144123-14144173	NHBE	bronchial:	n/a
10	chr5:14143207-14143257	AG09309	skin:	n/a
11	chr5:14142909-14142959	MCF10A-Er-Src	breast:	n/a
12	chr5:14140016-14140066	SK-N-SH_RA	brain:	n/a
13	chr5:14144123-14144173	Jurkat	blood:	n/a
14	chr5:14143221-14143271	PANC-1	pancreas:	n/a
15	chr5:14144123-14144173	HL-60	blood:	n/a
16	chr5:14142909-14142959	HEEpiC	esophagus:	n/a
17	chr5:14144769-14144819	HRE	kidney:	n/a
18	chr5:14142909-14142959	SK-N-SH	brain:	n/a
19	chr5:14144123-14144173	A549	lung:	n/a
20	chr5:14144425-14144475	LNCaP	prostate:	n/a
21	chr5:14143221-14143271	AoSMC	blood vessel:	n/a
22	chr5:14144425-14144475	RPTEC	kidney:	n/a
23	chr5:14142574-14142624	GM06990	blood:	n/a
24	chr5:14142574-14142624	HL-60	blood:	n/a
25	chr5:14144425-14144475	Caco-2	colon:	n/a
26	chr5:14144425-14144475	AG09309	skin:	n/a
27	chr5:14143304-14143354	HUVEC	blood vessel:	n/a
28	chr5:14143207-14143257	Hepatocyte	liver:	n/a
29	chr5:14142909-14142959	HCM	heart:	n/a
30	chr5:14142574-14142624	GM19239	blood:	n/a
31	chr5:14144425-14144475	HMEC	breast:	n/a
32	chr5:14144425-14144475	NHBE	bronchial:	n/a
33	chr5:14142909-14142959	HIPEpiC	eye:	n/a
34	chr5:14144123-14144173	H1-hESC	embryonic stem cell:	embryo
35	chr5:14144123-14144173	PANC-1	pancreas:	n/a
36	chr5:14143207-14143257	AG09319	gingival:	n/a
37	chr5:14144769-14144819	H1-hESC	embryonic stem cell:	embryo
38	chr5:14142574-14142624	GM12892	blood:	n/a
39	chr5:14142909-14142959	NB4	blood:	n/a
40	chr5:14142909-14142959	SK-N-MC	brain:	n/a
41	chr5:14143304-14143354	T-47D	breast:	n/a
42	chr5:14143207-14143257	MCF10A-Er-Src	breast:	n/a
43	chr5:14144425-14144475	GM12891	blood:	n/a
44	chr5:14144769-14144819	MCF10A-Er-Src	breast:	n/a
45	chr5:14143304-14143354	HRCEpiC	kidney:	n/a
46	chr5:14143221-14143271	Jurkat	blood:	n/a
47	chr5:14142909-14142959	AG04449	skin:	fetal
48	chr5:14143207-14143257	CMK	blood:	n/a
49	chr5:14143221-14143271	HPAEpiC	pulmonary alveolar:	n/a
50	chr5:14144123-14144173	NH-A	brain:	n/a

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:89630646..89631439-chr5:14143493..14144363,2	Hela-S3	cervix:
2	chr5:14141771..14143754-chr5:14229153..14231385,2	MCF-7	breast:
3	chr5:14139271..14141119-chr5:14141229..14143217,3	MCF-7	breast:
4	chr5:14131209..14133861-chr5:14137409..14140927,3	MCF-7	breast:
5	chr5:14136129..14138858-chr5:14141077..14143833,3	K562	blood:
6	chr5:14139699..14141424-chr5:14213975..14216525,2	MCF-7	breast:
7	chr5:14071467..14073909-chr5:14141543..14143716,2	MCF-7	breast:
8	chr5:14143107..14145345-chr5:14183034..14185852,4	MCF-7	breast:
9	chr3:57583020..57583930-chr5:14143322..14144316,2	Hela-S3	cervix:
10	chr5:14130852..14132491-chr5:14136393..14139228,2	K562	blood:
11	chr5:14135449..14138920-chr5:14141896..14144900,4	MCF-7	breast:
12	chr5:14144373..14146199-chr5:14161093..14165052,4	MCF-7	breast:
13	chr17:59476086..59478200-chr5:14142004..14143977,2	MCF-7	breast:
14	chr4:169278815..169279321-chr5:14144606..14145455,2	MCF-7	breast:
15	chr5:14143682..14146659-chr5:14664431..14666395,2	MCF-7	breast:
16	chr5:14038625..14041719-chr5:14138385..14140272,3	MCF-7	breast:
17	chr11:62572428..62573154-chr5:14143009..14143666,2	Hela-S3	cervix:
18	chr5:14142419..14144574-chr9:37118842..37121791,2	MCF-7	breast:
19	chr17:73150132..73150671-chr5:14143178..14143957,2	Hela-S3	cervix:
20	chr17:57784335..57785018-chr5:14144857..14145636,2	Hela-S3	cervix:
21	chr5:14108955..14110468-chr5:14136872..14139443,2	MCF-7	breast:
22	chr5:14137088..14139835-chr5:14145665..14149536,3	K562	blood:
23	chr17:4634523..4635103-chr5:14143457..14144055,2	Hela-S3	cervix:
24	chr5:14138335..14139971-chr5:14146960..14148722,2	K562	blood:
25	chr5:14108397..14109018-chr5:14142719..14143457,3	MCF-7	breast:
26	chr5:14142354..14143390-chr5:14269900..14270893,3	MCF-7	breast:
27	chr5:14124081..14127705-chr5:14135648..14138773,3	MCF-7	breast:
28	chr5:14139271..14141119-chr5:14141229..14143217,3	MCF-7	breast:
29	chr11:58345501..58346207-chr5:14143065..14143693,2	Hela-S3	cervix:
30	chr5:14136740..14140790-chr5:14141887..14145230,4	K562	blood:

No data

Variant related genes	Relation type
TRIO	TF binding region
TRIO	CpG island
ENSG00000272146	chromatin interactions
ENSG00000189159	chromatin interactions
ENSG00000121068	chromatin interactions
ENSG00000062716	chromatin interactions
ENSG00000261360	chromatin interactions
ENSG00000141378	chromatin interactions
ENSG00000261407	chromatin interactions
ENSG00000267131	chromatin interactions
ENSG00000168374	chromatin interactions
ENSG00000038382	chromatin interactions
ENSG00000154124	chromatin interactions
ENSG00000140526	chromatin interactions
ENSG00000147905	chromatin interactions
ENSG00000110031	chromatin interactions
ENSG00000161920	chromatin interactions
ENSG00000267280	chromatin interactions
ENSG00000162231	chromatin interactions

Extended variants
information (count: 324 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:324 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs388154	chr5:14136404-14136405	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs150014701	chr5:14136420-14136421	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs186392412	chr5:14136463-14136464	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs191200891	chr5:14136499-14136500	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs547372879	chr5:14136504-14136505	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs565703178	chr5:14136536-14136537	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs556419696	chr5:14136566-14136567	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs560951765	chr5:14136599-14136600	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs147687246	chr5:14136689-14136690	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs536774686	chr5:14136690-14136691	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs534295430	chr5:14136698-14136699	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs565111796	chr5:14136764-14136765	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs532715274	chr5:14136775-14136776	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs182286899	chr5:14136814-14136815	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs569523021	chr5:14136826-14136827	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs530371111	chr5:14136877-14136878	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs548160741	chr5:14136966-14136967	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs75830294	chr5:14136970-14136971	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs139697951	chr5:14136998-14136999	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs187606934	chr5:14137059-14137060	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs145234867	chr5:14137104-14137105	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs538034121	chr5:14137113-14137114	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs559699537	chr5:14137253-14137254	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs556129671	chr5:14137256-14137257	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs578011439	chr5:14137282-14137283	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs75336773	chr5:14137294-14137295	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs574626731	chr5:14137431-14137432	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs147603104	chr5:14137437-14137438	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs149114998	chr5:14137440-14137441	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs572920580	chr5:14137483-14137484	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs540256278	chr5:14137498-14137499	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs191285782	chr5:14137501-14137502	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs532964826	chr5:14137508-14137509	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs532540731	chr5:14137527-14137528	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs143168894	chr5:14137542-14137543	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs151149002	chr5:14137546-14137547	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs111710597	chr5:14137611-14137612	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs536846864	chr5:14137632-14137633	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs559120328	chr5:14137650-14137651	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs248893	chr5:14137654-14137655	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs566448449	chr5:14137673-14137674	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs248894	chr5:14137691-14137692	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs183086042	chr5:14137732-14137733	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs570523231	chr5:14137774-14137775	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs78856266	chr5:14137780-14137781	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs150332899	chr5:14137812-14137813	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs373625185	chr5:14137828-14137829	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs534637556	chr5:14137838-14137839	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs553017932	chr5:14137843-14137844	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs34384826	chr5:14137903-14137904	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Cervical squamous cell carcinoma	21590768	CNVD
abnormal development	18461090	CNVD
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Myelofibrosis	22110671	CNVD
Cri-du chat syndrome	16773131	CNVD
Cryptorchidism	21048976	CNVD
Glioblastoma multiforme	22286061	CNVD
Cervical cancer	16585170	CNVD
Mental retardation	16773131	CNVD
Non-small cell lung cancer	21829676	CNVD
Cri-du chat syndrome	22470819	CNVD
sporadic birth defects	19047251	CNVD
Breast cancer	21364760	CNVD
Non-small cell lung cancer	17643093	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	18940311	CNVD
Central neurocytomas	17123091	CNVD
Mental retardation	17847001	CNVD
Neurocytoma	17123091	CNVD
Mental retardation	19546859	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Williams Syndrome	20824207	CNVD
Intracranial aneurysm	16715129	CNVD

Chromatin state (count:495 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14133000-14138600	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr5:14133000-14140800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr5:14133000-14142000	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr5:14134600-14138800	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr5:14135000-14137000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr5:14135000-14137200	Enhancers	Fetal Heart	heart
7	chr5:14135200-14136600	Weak transcription	Fetal Muscle Trunk	muscle
8	chr5:14135200-14140600	Weak transcription	Left Ventricle	heart
9	chr5:14135400-14136600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr5:14135400-14142200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr5:14135600-14136600	Weak transcription	Right Atrium	heart
12	chr5:14135600-14140600	Weak transcription	Right Ventricle	heart
13	chr5:14135600-14142600	Weak transcription	Lung	lung
14	chr5:14136000-14137000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr5:14136000-14137000	Enhancers	Psoas Muscle	Psoas
16	chr5:14136200-14136800	Enhancers	Aorta	Aorta
17	chr5:14136200-14136800	Enhancers	HSMMtube	muscle
18	chr5:14136400-14136600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr5:14136400-14137000	Enhancers	Fetal Muscle Leg	muscle
20	chr5:14136600-14136800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr5:14136600-14136800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr5:14136600-14136800	Enhancers	Placenta	Placenta
23	chr5:14136600-14136800	Enhancers	Right Atrium	heart
24	chr5:14136600-14136800	Bivalent Enhancer	HepG2	liver
25	chr5:14136600-14137000	Enhancers	Fetal Muscle Trunk	muscle
26	chr5:14136800-14138600	Weak transcription	HSMMtube	muscle
27	chr5:14137000-14138000	Weak transcription	Fetal Muscle Leg	muscle
28	chr5:14137000-14138800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr5:14137000-14138800	Weak transcription	Psoas Muscle	Psoas
30	chr5:14137000-14139200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr5:14137000-14139400	Weak transcription	Fetal Muscle Trunk	muscle
32	chr5:14137200-14138600	Weak transcription	Fetal Heart	heart
33	chr5:14138000-14142400	Enhancers	Fetal Muscle Leg	muscle
34	chr5:14138600-14139400	Enhancers	HSMM	muscle
35	chr5:14138600-14139600	Enhancers	Fetal Heart	heart
36	chr5:14138600-14139600	Enhancers	HSMMtube	muscle
37	chr5:14138600-14141000	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr5:14138800-14139600	Enhancers	Psoas Muscle	Psoas
39	chr5:14138800-14140000	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr5:14138800-14141400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr5:14139000-14139600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr5:14139200-14139800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr5:14139400-14139600	Enhancers	HMEC	breast
44	chr5:14139400-14139600	Enhancers	NHDF-Ad	bronchial
45	chr5:14139400-14140600	Weak transcription	HSMM	muscle
46	chr5:14139400-14142400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr5:14139600-14140600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr5:14139600-14140600	Weak transcription	Fetal Heart	heart
49	chr5:14139600-14140800	Weak transcription	HSMMtube	muscle
50	chr5:14139600-14142200	Weak transcription	NHDF-Ad	bronchial

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