Variant report

Variant	esv1847227
Chromosome Location	chr8:105025912-105251147
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1028)
CpG islands
(count:671)
Chromatin interactive
region (count:45)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1028 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr8:105041116-105041765	H1-hESC	embryonic stem cell:	n/a	n/a
2	ATF2	chr8:105187576-105188307	GM12878	blood:	n/a	n/a
3	ATF2	chr8:105187628-105188149	GM12878	blood:	n/a	n/a
4	BACH1	chr8:105235242-105235626	H1-hESC	embryonic stem cell:	n/a	n/a
5	BATF	chr8:105187644-105188224	GM12878	blood:	n/a	chr8:105187968-105187979
6	BATF	chr8:105187698-105188164	GM12878	blood:	n/a	chr8:105187968-105187979
7	BCL11A	chr8:105187686-105188125	GM12878	blood:	n/a	chr8:105187967-105187976 chr8:105187968-105187977
8	BCL11A	chr8:105187704-105188169	GM12878	blood:	n/a	chr8:105187967-105187976 chr8:105187968-105187977
9	BCL3	chr8:105187683-105188137	GM12878	blood:	n/a	chr8:105187967-105187976 chr8:105187968-105187977
10	BCLAF1	chr8:105187709-105188172	GM12878	blood:	n/a	chr8:105187967-105187976 chr8:105187968-105187977
11	BHLHE40	chr8:105187642-105188027	GM12878	blood:	n/a	n/a
12	BHLHE40	chr8:105142582-105142737	GM12878	blood:	n/a	n/a
13	BRCA1	chr8:105235838-105236141	H1-hESC	embryonic stem cell:	n/a	n/a
14	BRCA1	chr8:105235221-105235500	H1-hESC	embryonic stem cell:	n/a	n/a
15	CEBPB	chr8:105052365-105052598	IMR90	lung:	n/a	chr8:105052419-105052432 chr8:105052461-105052472
16	CEBPB	chr8:105155811-105156380	A549	lung:	n/a	chr8:105156094-105156107
17	CEBPB	chr8:105157313-105157494	K562	blood:	n/a	chr8:105157378-105157389
18	CEBPB	chr8:105155954-105156248	A549	lung:	n/a	chr8:105156094-105156107
19	CEBPB	chr8:105200098-105200302	A549	lung:	n/a	chr8:105200154-105200165
20	CEBPB	chr8:105038099-105038529	Hela-S3	cervix:	n/a	chr8:105038285-105038296 chr8:105038440-105038453
21	CEBPB	chr8:105169580-105169875	HepG2	liver:	n/a	chr8:105169762-105169773
22	CEBPB	chr8:105084684-105084934	IMR90	lung:	n/a	n/a
23	CEBPB	chr8:105038065-105038488	IMR90	lung:	n/a	chr8:105038285-105038296 chr8:105038440-105038453
24	CEBPB	chr8:105200046-105200279	HepG2	liver:	n/a	chr8:105200154-105200165
25	CEBPB	chr8:105169737-105169745	K562	blood:	n/a	n/a
26	CEBPB	chr8:105238181-105238219	HepG2	liver:	n/a	chr8:105238189-105238200 chr8:105238186-105238203
27	CEBPB	chr8:105157369-105157477	H1-hESC	embryonic stem cell:	n/a	chr8:105157378-105157389
28	CEBPB	chr8:105140136-105140210	A549	lung:	n/a	n/a
29	CEBPB	chr8:105169586-105169839	A549	lung:	n/a	chr8:105169762-105169773
30	CEBPB	chr8:105234414-105234818	A549	lung:	n/a	chr8:105234647-105234660 chr8:105234649-105234660 chr8:105234647-105234660 chr8:105234647-105234660 chr8:105234649-105234660
31	CEBPB	chr8:105105497-105105774	A549	lung:	n/a	chr8:105105616-105105627
32	CEBPB	chr8:105213207-105213368	H1-hESC	embryonic stem cell:	n/a	n/a
33	CEBPB	chr8:105052359-105052555	A549	lung:	n/a	chr8:105052419-105052432 chr8:105052461-105052472
34	CEBPB	chr8:105157256-105157570	HepG2	liver:	n/a	chr8:105157378-105157389
35	CEBPB	chr8:105105506-105105808	HepG2	liver:	n/a	chr8:105105616-105105627
36	CEBPB	chr8:105235232-105235543	H1-hESC	embryonic stem cell:	n/a	n/a
37	CEBPB	chr8:105055565-105055756	A549	lung:	n/a	chr8:105055601-105055610 chr8:105055610-105055618 chr8:105055599-105055610
38	CEBPB	chr8:105038123-105038435	A549	lung:	n/a	chr8:105038285-105038296
39	CEBPB	chr8:105218860-105219093	MCF-7	breast:	n/a	n/a
40	CEBPB	chr8:105052324-105052594	HepG2	liver:	n/a	chr8:105052419-105052432 chr8:105052461-105052472
41	CEBPB	chr8:105038176-105038423	HepG2	liver:	n/a	chr8:105038285-105038296
42	CHD1	chr8:105235097-105235911	H1-hESC	embryonic stem cell:	n/a	n/a
43	CHD1	chr8:105041482-105041834	H1-hESC	embryonic stem cell:	n/a	n/a
44	CHD2	chr8:105041140-105041642	H1-hESC	embryonic stem cell:	n/a	n/a
45	CHD2	chr8:105235250-105236397	H1-hESC	embryonic stem cell:	n/a	n/a
46	CREB1	chr8:105235317-105235718	H1-hESC	embryonic stem cell:	n/a	n/a
47	CREB1	chr8:105235163-105235814	H1-hESC	embryonic stem cell:	n/a	n/a
48	CREB1	chr8:105187695-105188277	GM12878	blood:	n/a	n/a
49	CTBP2	chr8:105235240-105236295	H1-hESC	embryonic stem cell:	n/a	n/a
50	CTCF	chr8:105142520-105142670	WI-38	lung:	n/a	chr8:105142590-105142600 chr8:105142582-105142603 chr8:105142587-105142605 chr8:105142593-105142602 chr8:105142591-105142612 chr8:105142592-105142605 chr8:105142588-105142604

(count:671 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:105235715-105235765	HCF	heart:	n/a
2	chr8:105236155-105236205	HepG2	liver:	n/a
3	chr8:105161049-105161099	Hela-S3	cervix:	n/a
4	chr8:105094548-105094598	HRPEpiC	eye:	n/a
5	chr8:105235385-105235435	HepG2	liver:	n/a
6	chr8:105235385-105235435	HRCEpiC	kidney:	n/a
7	chr8:105238428-105238478	AG04449	skin:	fetal
8	chr8:105235715-105235765	LNCaP	prostate:	n/a
9	chr8:105235943-105235993	NB4	blood:	n/a
10	chr8:105235943-105235993	AoSMC	blood vessel:	n/a
11	chr8:105235606-105235656	MCF10A-Er-Src	breast:	n/a
12	chr8:105244257-105244307	Hepatocyte	liver:	n/a
13	chr8:105094548-105094598	T-47D	breast:	n/a
14	chr8:105238428-105238478	SK-N-SH_RA	brain:	n/a
15	chr8:105235606-105235656	SK-N-SH	brain:	n/a
16	chr8:105161049-105161099	HRCEpiC	kidney:	n/a
17	chr8:105235385-105235435	AoSMC	blood vessel:	n/a
18	chr8:105244257-105244307	BE2_C	brain:	n/a
19	chr8:105235385-105235435	A549	lung:	n/a
20	chr8:105235715-105235765	AoSMC	blood vessel:	n/a
21	chr8:105244257-105244307	HCT-116	colon:	n/a
22	chr8:105235184-105235234	H1-hESC	embryonic stem cell:	embryo
23	chr8:105235184-105235234	AG10803	skin:	n/a
24	chr8:105238428-105238478	HCM	heart:	n/a
25	chr8:105235184-105235234	PrEC	prostate:	n/a
26	chr8:105244257-105244307	HPAEpiC	pulmonary alveolar:	n/a
27	chr8:105235715-105235765	SAEC	small airway:	n/a
28	chr8:105235943-105235993	H1-hESC	embryonic stem cell:	embryo
29	chr8:105236155-105236205	Caco-2	colon:	n/a
30	chr8:105235606-105235656	AG04450	lung:	fetal
31	chr8:105235606-105235656	A549	lung:	n/a
32	chr8:105244257-105244307	GM12892	blood:	n/a
33	chr8:105235943-105235993	GM12892	blood:	n/a
34	chr8:105235385-105235435	SK-N-SH	brain:	n/a
35	chr8:105235385-105235435	ovcar-3	ovarian:	n/a
36	chr8:105235978-105236028	HEEpiC	esophagus:	n/a
37	chr8:105238428-105238478	HRE	kidney:	n/a
38	chr8:105235978-105236028	A549	lung:	n/a
39	chr8:105236155-105236205	SK-N-MC	brain:	n/a
40	chr8:105161049-105161099	SKMC	muscle:	n/a
41	chr8:105236155-105236205	HCT-116	colon:	n/a
42	chr8:105235184-105235234	LNCaP	prostate:	n/a
43	chr8:105238428-105238478	HRPEpiC	eye:	n/a
44	chr8:105235943-105235993	GM12878	blood:	n/a
45	chr8:105235943-105235993	IMR90	lung:	fetal
46	chr8:105094548-105094598	H1-hESC	embryonic stem cell:	embryo
47	chr8:105244257-105244307	GM19239	blood:	n/a
48	chr8:105094548-105094598	BE2_C	brain:	n/a
49	chr8:105238428-105238478	GM12892	blood:	n/a
50	chr8:105235385-105235435	NHDF-neo	bronchial:	n/a

(count:45 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:35402456..35403352-chr8:105139491..105140129,2	MCF-7	breast:
2	chr8:105156123..105158477-chr8:105160903..105163051,2	MCF-7	breast:
3	chr8:105159045..105161974-chr8:105163813..105165825,2	K562	blood:
4	chr8:104807876..104808412-chr8:105142129..105143128,2	K562	blood:
5	chr8:105242800..105244338-chr8:105249845..105251737,2	MCF-7	breast:
6	chr8:105120104..105122651-chr8:105125459..105127123,2	K562	blood:
7	chr8:104807373..104809649-chr8:105142104..105143087,16	MCF-7	breast:
8	chr8:105133539..105135724-chr8:105136660..105138373,2	MCF-7	breast:
9	chr4:162935502..162936005-chr8:105250879..105251379,2	MCF-7	breast:
10	chr8:105173950..105176285-chr8:105193428..105195940,2	MCF-7	breast:
11	chr8:105234081..105236200-chr8:105240839..105243210,2	MCF-7	breast:
12	chr5:134061778..134062420-chr8:105118451..105119152,2	MCF-7	breast:
13	chr8:105242316..105245331-chr8:105245427..105248797,3	K562	blood:
14	chr8:105142223..105142821-chr8:105337869..105338754,2	MCF-7	breast:
15	chr8:105207373..105209743-chr8:105210313..105212333,2	MCF-7	breast:
16	chr8:105225180..105227788-chr8:105237415..105240052,2	MCF-7	breast:
17	chr8:105207373..105209743-chr8:105210313..105212333,2	MCF-7	breast:
18	chr8:104775998..104777146-chr8:105142053..105143087,6	MCF-7	breast:
19	chr8:105159045..105161974-chr8:105163813..105165825,2	K562	blood:
20	chr8:105185671..105187346-chr8:105198346..105200773,2	MCF-7	breast:
21	chr8:105242316..105245331-chr8:105245427..105248797,3	K562	blood:
22	chr8:105241452..105243816-chr8:105245427..105247630,2	K562	blood:
23	chr8:104776697..104777502-chr8:105142088..105142615,2	K562	blood:
24	chr8:105102613..105105589-chr8:105106211..105108710,2	MCF-7	breast:
25	chr8:105142189..105143073-chr8:105430071..105430902,5	MCF-7	breast:
26	chr8:104719235..104720149-chr8:105142112..105143028,4	MCF-7	breast:
27	chr6:107307364..107309085-chr8:105230341..105231858,2	MCF-7	breast:
28	chr8:105185671..105187346-chr8:105198346..105200773,2	MCF-7	breast:
29	chr8:105241452..105243816-chr8:105245427..105247630,2	K562	blood:
30	chr8:104808988..104809567-chr8:105142388..105143010,2	MCF-7	breast:
31	chr8:105133539..105135724-chr8:105136660..105138373,2	MCF-7	breast:
32	chr8:105234317..105237730-chr8:105237758..105240241,3	MCF-7	breast:
33	chr8:105153535..105155055-chr8:105174946..105177136,2	MCF-7	breast:
34	chr8:105156123..105158477-chr8:105160903..105163051,2	MCF-7	breast:
35	chr8:105138025..105140468-chr8:105142058..105143910,2	K562	blood:
36	chr8:105153535..105155055-chr8:105174946..105177136,2	MCF-7	breast:
37	chr8:105138025..105140468-chr8:105142058..105143910,2	K562	blood:
38	chr8:105242800..105244338-chr8:105249845..105251737,2	MCF-7	breast:
39	chr8:104761856..104762718-chr8:105142470..105143058,2	MCF-7	breast:
40	chr8:105120104..105122651-chr8:105125459..105127123,2	K562	blood:
41	chr8:104718269..104720075-chr8:105140265..105142046,2	MCF-7	breast:
42	chr8:105173950..105176285-chr8:105193428..105195940,2	MCF-7	breast:
43	chr8:105225180..105227788-chr8:105237415..105240052,2	MCF-7	breast:
44	chr8:105102613..105105589-chr8:105106211..105108710,2	MCF-7	breast:
45	chr8:104775882..104776978-chr8:105142360..105143119,4	MCF-7	breast:

No data

Variant related genes	Relation type
RIMS2	TF binding region
RIMS2	CpG island
ENSG00000176406	chromatin interactions

Extended variants
information (count: 6679 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:6679 , 50 per page) page: 1 2 3 4 5 6 7 ... 134

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565052408	chr8:105025916-105025917	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs34555846	chr8:105025934-105025935	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs555732416	chr8:105025935-105025936	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs73295562	chr8:105025953-105025954	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs568794536	chr8:105025965-105025966	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs182345975	chr8:105026057-105026058	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs79998887	chr8:105026184-105026185	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567554137	chr8:105026205-105026206	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188043823	chr8:105026209-105026210	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191921989	chr8:105026212-105026213	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs549246389	chr8:105026217-105026218	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs78696608	chr8:105026305-105026306	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs544441774	chr8:105026400-105026401	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs375754970	chr8:105026418-105026419	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369888793	chr8:105026437-105026438	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs139253611	chr8:105026451-105026452	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576074723	chr8:105026506-105026507	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557624131	chr8:105026549-105026550	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs34902126	chr8:105026601-105026602	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576001896	chr8:105026649-105026650	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs543000358	chr8:105026673-105026674	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs370820815	chr8:105026700-105026701	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs373950463	chr8:105026722-105026723	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs377554442	chr8:105026745-105026746	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs146646525	chr8:105026768-105026769	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs199718726	chr8:105026777-105026778	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201593154	chr8:105026804-105026805	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536664960	chr8:105026830-105026831	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370509697	chr8:105026861-105026862	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540291258	chr8:105026867-105026868	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564661998	chr8:105026969-105026970	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374083684	chr8:105026974-105026975	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs143163017	chr8:105027054-105027055	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs368102947	chr8:105027104-105027105	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs543992535	chr8:105027169-105027170	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs183394820	chr8:105027236-105027237	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538661364	chr8:105027420-105027421	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529952926	chr8:105027454-105027455	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548195455	chr8:105027456-105027457	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567614143	chr8:105027460-105027461	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs147509368	chr8:105027462-105027463	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs546997560	chr8:105027503-105027504	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs112199453	chr8:105027509-105027510	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187849038	chr8:105027537-105027538	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539178469	chr8:105027552-105027553	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs541467735	chr8:105027626-105027627	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200424379	chr8:105027669-105027670	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs559249347	chr8:105027692-105027693	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191953557	chr8:105027728-105027729	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs569479635	chr8:105027743-105027744	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:116)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	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
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16461302	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Sezary syndrome	18413736	CNVD
Urothelial cell carcinoma	18451213	CNVD
Colorectal cancer	21645411	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	16912164	CNVD
Breast cancer	20409316	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Prostate cancer	22341455	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:620 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105019200-105040400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr8:105022800-105042400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr8:105024400-105041000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr8:105025000-105027200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:105025600-105028400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:105027200-105028600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:105028400-105047000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:105028600-105038600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:105030200-105030600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr8:105030600-105031800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr8:105031800-105035000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr8:105033600-105039400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr8:105035000-105039600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr8:105036000-105036200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr8:105036800-105038600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr8:105037400-105037600	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr8:105037600-105038400	Enhancers	HMEC	breast
18	chr8:105037600-105039200	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr8:105037600-105039600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr8:105037800-105039800	Enhancers	Muscle Satellite Cultured Cells	--
21	chr8:105037800-105040000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr8:105038200-105040400	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr8:105038400-105038800	Weak transcription	HMEC	breast
24	chr8:105038400-105040000	Enhancers	NHEK	skin
25	chr8:105038600-105039200	Enhancers	NHDF-Ad	bronchial
26	chr8:105038600-105039400	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr8:105038600-105039800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr8:105038600-105040000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr8:105038800-105040000	Enhancers	HMEC	breast
30	chr8:105039000-105040200	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr8:105039000-105042400	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr8:105039000-105042400	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr8:105039200-105041600	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr8:105039400-105040000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr8:105039400-105040800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr8:105039600-105040000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr8:105039600-105040400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr8:105039800-105041000	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr8:105040000-105040200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr8:105040000-105041000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr8:105040000-105044000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr8:105040000-105044600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr8:105040200-105040600	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr8:105040200-105041000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr8:105040400-105041000	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr8:105040400-105041600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr8:105040400-105044000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr8:105040400-105046400	Weak transcription	Brain Cingulate Gyrus	brain
49	chr8:105040600-105042400	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr8:105040800-105042400	Enhancers	iPS-18 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links