Variant report

Variant	esv3425950
Chromosome Location	chr8:19673522-19676520
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:933)
CpG islands
(count:551)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:933 , 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	chr8:19675435-19675969	HepG2	liver:	n/a	n/a
2	ARID3A	chr8:19675621-19676075	K562	blood:	n/a	chr8:19676033-19676049
3	ARID3A	chr8:19674594-19674967	K562	blood:	n/a	n/a
4	ARID3A	chr8:19674288-19675014	HepG2	liver:	n/a	n/a
5	ATF1	chr8:19674643-19675021	K562	blood:	n/a	n/a
6	ATF2	chr8:19674550-19674983	GM12878	blood:	n/a	n/a
7	ATF2	chr8:19674628-19675019	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr8:19674575-19675099	GM12878	blood:	n/a	n/a
9	ATF3	chr8:19674599-19675104	A549	lung:	n/a	n/a
10	BACH1	chr8:19674223-19675232	H1-hESC	embryonic stem cell:	n/a	n/a
11	BATF	chr8:19675546-19675881	GM12878	blood:	n/a	n/a
12	BATF	chr8:19674526-19674998	GM12878	blood:	n/a	n/a
13	BCL3	chr8:19674552-19675125	A549	lung:	n/a	n/a
14	BCL3	chr8:19674529-19675113	A549	lung:	n/a	n/a
15	BCLAF1	chr8:19674637-19675089	GM12878	blood:	n/a	n/a
16	BCLAF1	chr8:19674616-19675145	GM12878	blood:	n/a	n/a
17	BCLAF1	chr8:19675508-19675996	GM12878	blood:	n/a	n/a
18	BHLHE40	chr8:19674251-19675168	GM12878	blood:	n/a	n/a
19	BHLHE40	chr8:19674222-19675140	K562	blood:	n/a	n/a
20	BHLHE40	chr8:19674387-19675965	HepG2	liver:	n/a	n/a
21	BHLHE40	chr8:19675350-19675983	K562	blood:	n/a	n/a
22	BRCA1	chr8:19674734-19674924	GM12878	blood:	n/a	n/a
23	BRCA1	chr8:19674696-19675168	Hela-S3	cervix:	n/a	n/a
24	CBX3	chr8:19674660-19675010	K562	blood:	n/a	n/a
25	CBX3	chr8:19674323-19675091	K562	blood:	n/a	n/a
26	CBX3	chr8:19675472-19675968	K562	blood:	n/a	n/a
27	CCNT2	chr8:19674352-19675260	K562	blood:	n/a	chr8:19674527-19674536
28	CCNT2	chr8:19675567-19675905	K562	blood:	n/a	n/a
29	CEBPB	chr8:19674056-19675101	A549	lung:	n/a	n/a
30	CEBPB	chr8:19674154-19675094	Hela-S3	cervix:	n/a	n/a
31	CEBPB	chr8:19675497-19675937	Hela-S3	cervix:	n/a	n/a
32	CEBPB	chr8:19675584-19675869	K562	blood:	n/a	n/a
33	CEBPB	chr8:19675492-19675910	HepG2	liver:	n/a	n/a
34	CEBPB	chr8:19674612-19674972	K562	blood:	n/a	n/a
35	CEBPB	chr8:19674141-19675079	K562	blood:	n/a	n/a
36	CEBPB	chr8:19674153-19674938	A549	lung:	n/a	n/a
37	CEBPB	chr8:19674143-19674970	HepG2	liver:	n/a	n/a
38	CEBPB	chr8:19674137-19674952	IMR90	lung:	n/a	n/a
39	CEBPD	chr8:19674773-19675145	HepG2	liver:	n/a	n/a
40	CEBPD	chr8:19675440-19675802	HepG2	liver:	n/a	n/a
41	CEBPD	chr8:19674701-19675258	K562	blood:	n/a	n/a
42	CEBPD	chr8:19674711-19675181	HepG2	liver:	n/a	n/a
43	CHD1	chr8:19674673-19675836	GM12878	blood:	n/a	n/a
44	CHD1	chr8:19675881-19675903	H1-hESC	embryonic stem cell:	n/a	n/a
45	CHD2	chr8:19674350-19675244	H1-hESC	embryonic stem cell:	n/a	n/a
46	CHD2	chr8:19674684-19675176	HepG2	liver:	n/a	n/a
47	CHD2	chr8:19674673-19675019	K562	blood:	n/a	n/a
48	CHD2	chr8:19675421-19675956	HepG2	liver:	n/a	n/a
49	CHD2	chr8:19674320-19675200	GM12878	blood:	n/a	n/a
50	CHD2	chr8:19675604-19675704	H1-hESC	embryonic stem cell:	n/a	n/a

(count:551 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:19675140-19675190	ProgFib	skin:	n/a
2	chr8:19675432-19675482	HMEC	breast:	n/a
3	chr8:19675140-19675190	ProgFib	skin:	n/a
4	chr8:19675432-19675482	HMEC	breast:	n/a
5	chr8:19674713-19674763	Jurkat	blood:	n/a
6	chr8:19674713-19674763	GM12892	blood:	n/a
7	chr8:19674847-19674897	ProgFib	skin:	n/a
8	chr8:19674711-19674761	K562	blood:	n/a
9	chr8:19674705-19674755	GM06990	blood:	n/a
10	chr8:19674711-19674761	GM12892	blood:	n/a
11	chr8:19675140-19675190	RPTEC	kidney:	n/a
12	chr8:19674847-19674897	H1-hESC	embryonic stem cell:	embryo
13	chr8:19675140-19675190	AG09319	gingival:	n/a
14	chr8:19675222-19675272	NH-A	brain:	n/a
15	chr8:19674705-19674755	GM12891	blood:	n/a
16	chr8:19674713-19674763	PFSK-1	brain:	n/a
17	chr8:19674705-19674755	BJ	skin:	n/a
18	chr8:19674713-19674763	HRCEpiC	kidney:	n/a
19	chr8:19675140-19675190	SK-N-SH	brain:	n/a
20	chr8:19674705-19674755	HEK293	kidney:	embryo
21	chr8:19674713-19674763	BE2_C	brain:	n/a
22	chr8:19674713-19674763	AG04450	lung:	fetal
23	chr8:19674775-19674825	NH-A	brain:	n/a
24	chr8:19675140-19675190	HRCEpiC	kidney:	n/a
25	chr8:19674705-19674755	Hepatocyte	liver:	n/a
26	chr8:19674713-19674763	HIPEpiC	eye:	n/a
27	chr8:19674711-19674761	SKMC	muscle:	n/a
28	chr8:19674847-19674897	BE2_C	brain:	n/a
29	chr8:19674196-19674246	AG09319	gingival:	n/a
30	chr8:19674196-19674246	HL-60	blood:	n/a
31	chr8:19675140-19675190	HCF	heart:	n/a
32	chr8:19674847-19674897	GM06990	blood:	n/a
33	chr8:19674711-19674761	PrEC	prostate:	n/a
34	chr8:19674775-19674825	GM19239	blood:	n/a
35	chr8:19674775-19674825	SK-N-SH	brain:	n/a
36	chr8:19674711-19674761	NHBE	bronchial:	n/a
37	chr8:19674705-19674755	ProgFib	skin:	n/a
38	chr8:19675222-19675272	ProgFib	skin:	n/a
39	chr8:19675222-19675272	SKMC	muscle:	n/a
40	chr8:19675432-19675482	GM19239	blood:	n/a
41	chr8:19675222-19675272	AoSMC	blood vessel:	n/a
42	chr8:19674847-19674897	AoSMC	blood vessel:	n/a
43	chr8:19675140-19675190	HepG2	liver:	n/a
44	chr8:19674775-19674825	CMK	blood:	n/a
45	chr8:19675222-19675272	HCM	heart:	n/a
46	chr8:19674711-19674761	HCM	heart:	n/a
47	chr8:19675432-19675482	SKMC	muscle:	n/a
48	chr8:19675432-19675482	MCF10A-Er-Src	breast:	n/a
49	chr8:19674847-19674897	HRCEpiC	kidney:	n/a
50	chr8:19675432-19675482	MCF-7	breast:	n/a

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:19674069..19678740-chr8:19703160..19710631,7	K562	blood:
2	chr5:133304170..133304850-chr8:19674192..19675155,2	HCT-116	colon:
3	chr3:138608050..138608809-chr8:19674191..19674935,2	NB4	blood:
4	chr15:65588319..65589097-chr8:19674080..19674695,2	NB4	blood:
5	chr8:19675514..19677492-chr8:19691174..19693357,2	MCF-7	breast:
6	chr8:19169628..19172105-chr8:19676058..19678927,2	MCF-7	breast:
7	chr5:134094453..134095205-chr8:19674522..19675109,2	Hela-S3	cervix:
8	chr8:19673492..19676303-chr8:19685537..19688131,3	MCF-7	breast:
9	chr16:47497589..47499344-chr8:19675035..19676685,2	K562	blood:
10	chr8:19674757..19677268-chr8:19687110..19688906,2	K562	blood:
11	chr8:19675302..19676840-chr8:19775032..19777867,2	K562	blood:
12	chr8:19674243..19675884-chr8:19680646..19683864,3	MCF-7	breast:
13	chr17:57916263..57917052-chr8:19675358..19676030,2	Hela-S3	cervix:
14	chr3:40494258..40495131-chr8:19674253..19674786,2	Hela-S3	cervix:
15	chr7:100303184..100304100-chr8:19674859..19675431,2	NB4	blood:

No data

Variant related genes	Relation type
INTS10	TF binding region
INTS10	CpG island
ENSG00000199568	chromatin interactions
ENSG00000172336	chromatin interactions
ENSG00000113583	chromatin interactions
ENSG00000104613	chromatin interactions
ENSG00000242244	chromatin interactions
ENSG00000223797	chromatin interactions
ENSG00000104611	chromatin interactions
ENSG00000145833	chromatin interactions
ENSG00000129636	chromatin interactions

Extended variants
information (count: 145 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:145 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545157209	chr8:19673527-19673528	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs61456532	chr8:19673550-19673551	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs542376059	chr8:19673573-19673574	Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs142577548	chr8:19673606-19673607	Weak transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs527350291	chr8:19673630-19673631	Weak transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs540671056	chr8:19673642-19673643	Weak transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs150953830	chr8:19673651-19673652	Weak transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs185146244	chr8:19673749-19673750	Weak transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs10090638	chr8:19673750-19673751	Weak transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs569134969	chr8:19673772-19673773	Weak transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs531774315	chr8:19673809-19673810	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs551526741	chr8:19673822-19673823	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs189908913	chr8:19673830-19673831	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs537778850	chr8:19673870-19673871	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs182572667	chr8:19673877-19673878	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs111562554	chr8:19673897-19673898	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs567644734	chr8:19673954-19673955	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs3758060	chr8:19673973-19673974	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs187886482	chr8:19673992-19673993	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs140014394	chr8:19673994-19673995	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs545243156	chr8:19674026-19674027	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs3758061	chr8:19674033-19674034	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs183383221	chr8:19674038-19674039	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs541111214	chr8:19674048-19674049	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs146833303	chr8:19674055-19674056	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs188837485	chr8:19674095-19674096	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs140724289	chr8:19674144-19674145	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs193024861	chr8:19674152-19674153	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs184765363	chr8:19674154-19674155	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs112676968	chr8:19674168-19674169	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs34181248	chr8:19674171-19674172	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs372846187	chr8:19674208-19674209	Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs73204745	chr8:19674295-19674296	Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs375982374	chr8:19674319-19674320	Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs571772570	chr8:19674350-19674351	Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs563146237	chr8:19674379-19674380	Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs563778391	chr8:19674389-19674390	Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs527826485	chr8:19674442-19674443	Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs76273096	chr8:19674451-19674452	Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs567693825	chr8:19674498-19674499	Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs373303461	chr8:19674519-19674520	Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs556567262	chr8:19674523-19674524	Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs71510664	chr8:19674524-19674525	Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs71510665	chr8:19674537-19674538	Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs369545168	chr8:19674560-19674561	Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs569966350	chr8:19674580-19674581	Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs188053281	chr8:19674627-19674628	Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs554734304	chr8:19674633-19674634	Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs13260840	chr8:19674637-19674638	Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs202049854	chr8:19674645-19674646	Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:116)

Disease	PMID	Source
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Epilepsy	22083797	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	17603634	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cancer	18840272	CNVD
Breast cancer	19602461	CNVD
Osteosarcoma	19286668	CNVD
Prostate cancer	19242612	CNVD
Prostate cancer	19258508	CNVD
small cell lung cancer	20016488	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Gastric adenocarcinoma	19115996	CNVD
Colorectal cancer	19455253	CNVD
Melanoma	20688739	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:496 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19670600-19673800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr8:19670600-19673800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:19670600-19674000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:19671400-19674000	Weak transcription	Primary B cells from peripheral blood	blood
5	chr8:19672400-19674200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr8:19673400-19673600	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr8:19673400-19673600	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
8	chr8:19673600-19673800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr8:19673600-19673800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr8:19673600-19673800	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr8:19673600-19673800	Enhancers	Dnd41	blood
12	chr8:19673600-19673800	Enhancers	Hela-S3	cervix
13	chr8:19673600-19673800	Enhancers	Osteobl	bone
14	chr8:19673600-19674000	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr8:19673600-19674000	Enhancers	Brain Hippocampus Middle	brain
16	chr8:19673600-19674000	Flanking Active TSS	A549	lung
17	chr8:19673600-19674000	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr8:19673600-19674400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
19	chr8:19673600-19675800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr8:19673600-19675800	Active TSS	Rectal Mucosa Donor 29	rectum
21	chr8:19673600-19676000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr8:19673800-19674000	Enhancers	H9 Cell Line	embryonic stem cell
23	chr8:19673800-19674000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr8:19673800-19674000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
25	chr8:19673800-19674000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr8:19673800-19674000	Enhancers	Primary B cells from cord blood	blood
27	chr8:19673800-19674000	Enhancers	Primary T cells fromperipheralblood	blood
28	chr8:19673800-19674000	Enhancers	Primary hematopoietic stem cells	blood
29	chr8:19673800-19674000	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr8:19673800-19674000	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr8:19673800-19674000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr8:19673800-19674000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
33	chr8:19673800-19674000	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr8:19673800-19674000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr8:19673800-19674000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
36	chr8:19673800-19674000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr8:19673800-19674000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr8:19673800-19674000	Enhancers	Brain Substantia Nigra	brain
39	chr8:19673800-19674000	Enhancers	Colon Smooth Muscle	Colon
40	chr8:19673800-19674000	Flanking Active TSS	Duodenum Mucosa	Duodenum
41	chr8:19673800-19674000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr8:19673800-19674000	Enhancers	Fetal Brain Male	brain
43	chr8:19673800-19674000	Enhancers	Fetal Lung	lung
44	chr8:19673800-19674000	Enhancers	Fetal Muscle Trunk	muscle
45	chr8:19673800-19674000	Enhancers	Fetal Muscle Leg	muscle
46	chr8:19673800-19674000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
47	chr8:19673800-19674000	Enhancers	Right Ventricle	heart
48	chr8:19673800-19674000	Flanking Active TSS	Stomach Smooth Muscle	stomach
49	chr8:19673800-19674000	Enhancers	HUVEC	blood vessel
50	chr8:19673800-19674000	Flanking Active TSS	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links