Variant report

Variant	esv3442250
Chromosome Location	chr8:64372798-64374746
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr8:64374263-64374327	MCF10A-Er-Src	breast:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TTPA-1	chr8:64374037-64374101	ENSG00000253205
2	lnc-TTPA-1	chr8:64374037-64374108	ENSG00000253205
3	lnc-TTPA-1	chr8:64374037-64374101	ENSG00000253205

Variant related genes	Relation type
ENSG00000253894	TF binding region
ENSG00000253205	TF binding region

Extended variants
information (count: 84 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555859414	chr8:64372801-64372802	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs142641479	chr8:64372815-64372816	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs1367808	chr8:64372827-64372828	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs569334319	chr8:64372837-64372838	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs560021602	chr8:64372840-64372841	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs527628519	chr8:64372921-64372922	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs542406207	chr8:64372956-64372957	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs561174451	chr8:64372958-64372959	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs529338681	chr8:64372962-64372963	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs538117727	chr8:64372983-64372984	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs551066993	chr8:64373022-64373023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs569114131	chr8:64373028-64373029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs144901338	chr8:64373031-64373032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs72663841	chr8:64373040-64373041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs73265077	chr8:64373047-64373048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs181537464	chr8:64373058-64373059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs555660080	chr8:64373094-64373095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs567871075	chr8:64373100-64373101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs537510175	chr8:64373108-64373109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs114470056	chr8:64373119-64373120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs7463226	chr8:64373123-64373124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs72663843	chr8:64373167-64373168	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs538246805	chr8:64373184-64373185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs553394925	chr8:64373198-64373199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs553833202	chr8:64373205-64373206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs551014307	chr8:64373206-64373207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs13251282	chr8:64373210-64373211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs13251293	chr8:64373216-64373217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs13251305	chr8:64373222-64373223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs138640431	chr8:64373251-64373252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs79314214	chr8:64373252-64373253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560882726	chr8:64373260-64373261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576192415	chr8:64373330-64373331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544330973	chr8:64373340-64373341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs562995095	chr8:64373344-64373345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs533504081	chr8:64373376-64373377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540467889	chr8:64373416-64373417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186927521	chr8:64373417-64373418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189769110	chr8:64373428-64373429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs144493447	chr8:64373439-64373440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201519316	chr8:64373469-64373470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs372615385	chr8:64373501-64373502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564975195	chr8:64373526-64373527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs10559534	chr8:64373592-64373593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs369993852	chr8:64373595-64373596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs1897314	chr8:64373596-64373597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs1897313	chr8:64373627-64373628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374451166	chr8:64373629-64373630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs56091236	chr8:64373631-64373632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs371719885	chr8:64373668-64373669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	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
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	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
Salivary gland tumor	18059337	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
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	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
Colorectal cancer	16272173	CNVD
Melanoma	22183965	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	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
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Sezary syndrome	18413736	CNVD
Colorectal cancer	21645411	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:64371800-64375000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:64372400-64373000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:64372800-64373200	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr8:64373200-64381600	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr8:64374400-64374800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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