Variant report

Variant	nsv890886
Chromosome Location	chr8:51802055-51946827
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:167)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:167 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr8:51934062-51934395	GM12878	blood:	n/a	n/a
2	BATF	chr8:51934082-51934330	GM12878	blood:	n/a	chr8:51934250-51934261
3	BATF	chr8:51934115-51934341	GM12878	blood:	n/a	chr8:51934250-51934261
4	BCL11A	chr8:51934103-51934327	GM12878	blood:	n/a	n/a
5	CEBPB	chr8:51815008-51815301	Hela-S3	cervix:	n/a	chr8:51815099-51815110
6	CEBPB	chr8:51943318-51943587	IMR90	lung:	n/a	n/a
7	CEBPB	chr8:51853777-51854033	A549	lung:	n/a	n/a
8	CEBPB	chr8:51853747-51854039	IMR90	lung:	n/a	n/a
9	CEBPB	chr8:51943286-51943588	HepG2	liver:	n/a	n/a
10	CEBPB	chr8:51815003-51815238	HepG2	liver:	n/a	chr8:51815099-51815110
11	CEBPB	chr8:51853745-51854060	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr8:51885340-51885490	Caco-2	colon:	n/a	n/a
13	CTCF	chr8:51810680-51810830	HPF	lung:	n/a	n/a
14	CTCF	chr8:51810691-51810820	MCF-7	breast:	n/a	n/a
15	CTCF	chr8:51913389-51913420	GM10266	blood:	n/a	n/a
16	CTCF	chr8:51810620-51810770	HEEpiC	esophagus:	n/a	n/a
17	CTCF	chr8:51810682-51810839	MCF-7	breast:	n/a	n/a
18	CTCF	chr8:51860171-51860176	LNCaP	prostate:	n/a	n/a
19	CTCF	chr8:51856871-51856889	MCF-7	breast:	n/a	n/a
20	CTCF	chr8:51810696-51810845	MCF-7	breast:	n/a	n/a
21	CTCF	chr8:51856980-51857130	MCF-7	breast:	n/a	n/a
22	CTCF	chr8:51856671-51856989	T-47D	breast:	n/a	n/a
23	CTCF	chr8:51810660-51810810	MCF-7	breast:	n/a	n/a
24	CTCF	chr8:51810686-51810812	MCF-7	breast:	n/a	n/a
25	CTCF	chr8:51856872-51856953	LNCaP	prostate:	n/a	n/a
26	CTCF	chr8:51810680-51810850	MCF-7	breast:	n/a	n/a
27	CTCF	chr8:51810720-51810870	Caco-2	colon:	n/a	n/a
28	CTCF	chr8:51865763-51865828	GM10266	blood:	n/a	n/a
29	CTCF	chr8:51810720-51810870	HPF	lung:	n/a	n/a
30	CTCF	chr8:51940220-51940245	Lung_OC	lung:	n/a	n/a
31	CTCF	chr8:51832477-51832604	Spleen_OC	spleen:	n/a	n/a
32	CTCF	chr8:51810500-51810650	Hela-S3	cervix:	n/a	n/a
33	CTCF	chr8:51901176-51901215	GM20000	blood:	n/a	n/a
34	E2F4	chr8:51937201-51937571	MCF10A-Er-Src	breast:	n/a	n/a
35	E2F4	chr8:51842582-51842805	MCF10A-Er-Src	breast:	n/a	n/a
36	E2F4	chr8:51808436-51808664	MCF10A-Er-Src	breast:	n/a	n/a
37	E2F4	chr8:51893910-51894441	MCF10A-Er-Src	breast:	n/a	n/a
38	E2F4	chr8:51918023-51918214	MCF10A-Er-Src	breast:	n/a	n/a
39	E2F4	chr8:51895598-51895784	MCF10A-Er-Src	breast:	n/a	n/a
40	E2F4	chr8:51919099-51919441	MCF10A-Er-Src	breast:	n/a	n/a
41	EBF1	chr8:51932957-51933099	GM12878	blood:	n/a	n/a
42	EBF1	chr8:51933670-51934344	GM12878	blood:	n/a	n/a
43	EP300	chr8:51934134-51934362	GM12878	blood:	n/a	n/a
44	EP300	chr8:51933587-51933907	GM12878	blood:	n/a	n/a
45	EP300	chr8:51934100-51934384	GM12878	blood:	n/a	n/a
46	FAM48A	chr8:51834461-51834598	GM12878	blood:	n/a	n/a
47	FAM48A	chr8:51805226-51805280	GM12878	blood:	n/a	n/a
48	FAM48A	chr8:51879216-51879319	GM12878	blood:	n/a	n/a
49	FOS	chr8:51842970-51843253	MCF10A-Er-Src	breast:	n/a	n/a
50	FOS	chr8:51841960-51842306	MCF10A-Er-Src	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:51854395..51855974-chr8:51858657..51860193,2	K562	blood:
2	chr8:51854395..51855974-chr8:51858657..51860193,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000201316	TF binding region

Extended variants
information (count: 860 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:860 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183187146	chr8:51807234-51807235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs370858948	chr8:51807277-51807278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs553836247	chr8:51807351-51807352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs572084609	chr8:51807413-51807414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs546091023	chr8:51807430-51807431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs564374144	chr8:51807444-51807445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs13268743	chr8:51807451-51807452	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs10088818	chr8:51807454-51807455	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs562997419	chr8:51807465-51807466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs530164689	chr8:51807491-51807492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs548163960	chr8:51807530-51807531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs187619587	chr8:51807552-51807553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs72647180	chr8:51807591-51807592	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs141539864	chr8:51807592-51807593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs150882078	chr8:51807634-51807635	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538427527	chr8:51807645-51807646	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs199904639	chr8:51807647-51807648	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556506551	chr8:51807660-51807661	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs17787699	chr8:51807663-51807664	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs73574081	chr8:51807702-51807703	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs553925853	chr8:51807785-51807786	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566058950	chr8:51807792-51807793	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370442810	chr8:51807824-51807825	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192602164	chr8:51807826-51807827	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs545823505	chr8:51807866-51807867	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183473305	chr8:51807907-51807908	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs144507320	chr8:51807976-51807977	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543583658	chr8:51808056-51808057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189505578	chr8:51808091-51808092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs529071786	chr8:51808121-51808122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs554009993	chr8:51808140-51808141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541894209	chr8:51808175-51808176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570617757	chr8:51808187-51808188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs192688768	chr8:51808212-51808213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184986764	chr8:51808216-51808217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs552196403	chr8:51808223-51808224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs189917366	chr8:51808258-51808259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs74631992	chr8:51808265-51808266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs373726304	chr8:51808269-51808270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs74768266	chr8:51808325-51808326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568532213	chr8:51808328-51808329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs117470764	chr8:51808390-51808391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181487430	chr8:51808394-51808395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565821944	chr8:51808430-51808431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539438942	chr8:51808510-51808511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536511106	chr8:51808531-51808532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186175757	chr8:51808551-51808552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs35944831	chr8:51808555-51808556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs77172442	chr8:51808558-51808559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs536915326	chr8:51808575-51808576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:51807200-51808000	Enhancers	Fetal Brain Male	brain
2	chr8:51807600-51810600	Weak transcription	Fetal Lung	lung
3	chr8:51810400-51810800	ZNF genes & repeats	Pancreas	Pancrea
4	chr8:51810600-51811000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr8:51810600-51811800	Enhancers	Fetal Lung	lung
6	chr8:51811000-51811600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr8:51811800-51816400	Weak transcription	Fetal Lung	lung
8	chr8:51816400-51817400	Enhancers	Fetal Lung	lung
9	chr8:51823400-51823600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:51823600-51824200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr8:51823600-51824200	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr8:51824200-51825000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr8:51834200-51836800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr8:51836200-51836600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:51842200-51842800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr8:51846800-51847200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr8:51857000-51859400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr8:51885000-51885400	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr8:51885200-51886000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:51897800-51899000	Enhancers	Dnd41	blood
21	chr8:51932000-51932200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
22	chr8:51933200-51933400	Active TSS	GM12878-XiMat	blood
23	chr8:51933400-51933600	Flanking Active TSS	GM12878-XiMat	blood
24	chr8:51933600-51933800	ZNF genes & repeats	GM12878-XiMat	blood
25	chr8:51933600-51934200	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr8:51933800-51934000	Flanking Active TSS	GM12878-XiMat	blood
27	chr8:51944600-51945000	Enhancers	Adipose Nuclei	Adipose

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