Variant report

Variant	esv2759614
Chromosome Location	chr8:51750040-51883407
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:181)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:181 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr8:51760453-51760811	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr8:51760452-51760813	K562	blood:	n/a	n/a
3	BRCA1	chr8:51771806-51771914	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr8:51815008-51815301	Hela-S3	cervix:	n/a	chr8:51815099-51815110
5	CEBPB	chr8:51853745-51854060	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPB	chr8:51853747-51854039	IMR90	lung:	n/a	n/a
7	CEBPB	chr8:51767482-51767716	H1-hESC	embryonic stem cell:	n/a	n/a
8	CEBPB	chr8:51815003-51815238	HepG2	liver:	n/a	chr8:51815099-51815110
9	CEBPB	chr8:51853777-51854033	A549	lung:	n/a	n/a
10	CEBPB	chr8:51755011-51755229	H1-hESC	embryonic stem cell:	n/a	n/a
11	CEBPB	chr8:51754975-51755240	IMR90	lung:	n/a	n/a
12	CEBPB	chr8:51755059-51755254	HepG2	liver:	n/a	n/a
13	CEBPB	chr8:51774506-51774533	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr8:51832477-51832604	Spleen_OC	spleen:	n/a	n/a
15	CTCF	chr8:51810682-51810839	MCF-7	breast:	n/a	n/a
16	CTCF	chr8:51810500-51810650	Hela-S3	cervix:	n/a	n/a
17	CTCF	chr8:51856980-51857130	MCF-7	breast:	n/a	n/a
18	CTCF	chr8:51856871-51856889	MCF-7	breast:	n/a	n/a
19	CTCF	chr8:51801274-51801352	GM13976	blood:	n/a	n/a
20	CTCF	chr8:51810720-51810870	HPF	lung:	n/a	n/a
21	CTCF	chr8:51787374-51787445	Spleen_OC	spleen:	n/a	n/a
22	CTCF	chr8:51786680-51786830	Hela-S3	cervix:	n/a	n/a
23	CTCF	chr8:51789523-51789562	GM10266	blood:	n/a	n/a
24	CTCF	chr8:51810680-51810830	HPF	lung:	n/a	n/a
25	CTCF	chr8:51775680-51775830	GM12871	blood:	n/a	n/a
26	CTCF	chr8:51775770-51775888	MCF-7	breast:	n/a	n/a
27	CTCF	chr8:51810696-51810845	MCF-7	breast:	n/a	n/a
28	CTCF	chr8:51810680-51810850	MCF-7	breast:	n/a	n/a
29	CTCF	chr8:51791300-51791450	GM12868	blood:	n/a	n/a
30	CTCF	chr8:51799400-51799550	NHDF-neo	bronchial:	n/a	n/a
31	CTCF	chr8:51775799-51775889	MCF-7	breast:	n/a	n/a
32	CTCF	chr8:51856671-51856989	T-47D	breast:	n/a	n/a
33	CTCF	chr8:51810620-51810770	HEEpiC	esophagus:	n/a	n/a
34	CTCF	chr8:51810686-51810812	MCF-7	breast:	n/a	n/a
35	CTCF	chr8:51775761-51775894	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTCF	chr8:51810660-51810810	MCF-7	breast:	n/a	n/a
37	CTCF	chr8:51810691-51810820	MCF-7	breast:	n/a	n/a
38	CTCF	chr8:51797620-51797770	HepG2	liver:	n/a	n/a
39	CTCF	chr8:51856872-51856953	LNCaP	prostate:	n/a	n/a
40	CTCF	chr8:51810720-51810870	Caco-2	colon:	n/a	n/a
41	CTCF	chr8:51775836-51775845	MCF-7	breast:	n/a	n/a
42	CTCF	chr8:51761980-51762130	GM12868	blood:	n/a	n/a
43	CTCF	chr8:51860171-51860176	LNCaP	prostate:	n/a	n/a
44	CTCF	chr8:51764400-51764550	GM12869	blood:	n/a	n/a
45	CTCF	chr8:51775784-51775892	MCF-7	breast:	n/a	n/a
46	CTCF	chr8:51865763-51865828	GM10266	blood:	n/a	n/a
47	E2F4	chr8:51842582-51842805	MCF10A-Er-Src	breast:	n/a	n/a
48	E2F4	chr8:51781165-51781190	MCF10A-Er-Src	breast:	n/a	n/a
49	E2F4	chr8:51808436-51808664	MCF10A-Er-Src	breast:	n/a	n/a
50	EP300	chr8:51799071-51799741	SK-N-SH_RA	brain:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr8:51854395..51855974-chr8:51858657..51860193,2	K562	blood:
2	chr8:51854395..51855974-chr8:51858657..51860193,2	K562	blood:
3	chr8:51767065..51768781-chr8:51770684..51773527,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SNTG1-2	chr8:51772090-51772622	NONHSAT126530

No data

Variant related genes	Relation type
ENSG00000253340	TF binding region
ENSG00000253340	chromatin interactions

Extended variants
information (count: 1563 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:1563 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs193179520	chr8:51750813-51750814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs556930965	chr8:51750831-51750832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs147388535	chr8:51750885-51750886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs372717380	chr8:51750889-51750890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs540566132	chr8:51750892-51750893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs67053119	chr8:51750913-51750914	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs542208274	chr8:51750936-51750937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs139539117	chr8:51750953-51750954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs185494539	chr8:51750956-51750957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs554009958	chr8:51751000-51751001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs563094945	chr8:51751029-51751030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs529778666	chr8:51751035-51751036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs572316725	chr8:51751106-51751107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs566300258	chr8:51751146-51751147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs147138845	chr8:51751149-51751150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs386725232	chr8:51751156-51751157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs201606367	chr8:51751157-51751158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs544741615	chr8:51751158-51751159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs552181540	chr8:51751160-51751161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs189189927	chr8:51751201-51751202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs537629459	chr8:51751242-51751243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs145259012	chr8:51751252-51751253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs57232241	chr8:51751272-51751273	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs536299343	chr8:51751325-51751326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs372618385	chr8:51751400-51751401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs114805322	chr8:51751419-51751420	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs62518767	chr8:51751469-51751470	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201333571	chr8:51751472-51751473	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs540656470	chr8:51751492-51751493	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565414877	chr8:51751497-51751498	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs150989279	chr8:51751503-51751504	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544935562	chr8:51751506-51751507	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs563029425	chr8:51751509-51751510	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530322753	chr8:51751555-51751556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs541558625	chr8:51751586-51751587	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560234765	chr8:51751641-51751642	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs527278705	chr8:51751654-51751655	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs552180591	chr8:51751713-51751714	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs140811095	chr8:51751727-51751728	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181949148	chr8:51751730-51751731	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549665498	chr8:51751735-51751736	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs183460563	chr8:51751740-51751741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs13277400	chr8:51751753-51751754	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs554747263	chr8:51751754-51751755	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs566982624	chr8:51751807-51751808	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs534056038	chr8:51751889-51751890	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs149747777	chr8:51751894-51751895	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577318526	chr8:51751908-51751909	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12542948	chr8:51751951-51751952	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs575076973	chr8:51751954-51751955	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
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
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	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
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	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
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
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD
Ovarian cancer	22174824	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
22q11 deletion syndrome	20357662	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:51750800-51751800	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr8:51750800-51752200	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr8:51750800-51752200	Enhancers	Dnd41	blood
4	chr8:51750800-51752400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr8:51751000-51751400	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr8:51751000-51752000	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr8:51751000-51752000	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr8:51751000-51752200	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr8:51751200-51752000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:51751400-51751800	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr8:51751600-51752000	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr8:51751800-51752000	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr8:51751800-51752000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr8:51751800-51753600	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr8:51752000-51753000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr8:51752000-51753000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr8:51752000-51753000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr8:51752000-51753600	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr8:51752000-51754400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:51752200-51752600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr8:51752200-51753400	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr8:51752400-51754200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr8:51752600-51756000	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr8:51753000-51754800	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr8:51753000-51755000	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr8:51753000-51755200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr8:51753400-51755200	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr8:51753600-51754000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr8:51753600-51754400	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr8:51753600-51754800	Enhancers	H1 Cell Line	embryonic stem cell
31	chr8:51753600-51755200	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr8:51753600-51755800	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr8:51753800-51754200	Active TSS	Fetal Lung	lung
34	chr8:51753800-51754600	Enhancers	H9 Cell Line	embryonic stem cell
35	chr8:51753800-51755200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
36	chr8:51753800-51755200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr8:51754200-51755200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr8:51754400-51754800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr8:51754400-51755600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr8:51755200-51756200	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr8:51755200-51757800	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr8:51755600-51756000	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr8:51755600-51757000	Enhancers	Fetal Intestine Large	intestine
44	chr8:51755800-51756200	Enhancers	Fetal Intestine Small	intestine
45	chr8:51755800-51757800	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr8:51756200-51757000	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr8:51757800-51758000	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr8:51757800-51758000	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr8:51763600-51767000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr8:51767000-51767200	Enhancers	HUES48 Cell Line	embryonic stem cell

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