Variant report

Variant	esv1839602
Chromosome Location	chr8:130503150-130510068
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	CTCF	chr8:130504140-130504290	NHEK	skin:	n/a	n/a
2	CUX1	chr8:130505745-130505751	GM12878	blood:	n/a	n/a
3	E2F4	chr8:130503920-130504016	MCF10A-Er-Src	breast:	n/a	n/a
4	E2F4	chr8:130506077-130506083	MCF10A-Er-Src	breast:	n/a	n/a
5	GABPA	chr8:130510000-130514386	HL-60	blood:	n/a	n/a
6	GATA3	chr8:130502635-130503194	SK-N-SH	brain:	n/a	chr8:130502955-130502964 chr8:130502955-130502962 chr8:130503018-130503025 chr8:130502952-130502962 chr8:130502955-130502962 chr8:130503076-130503086 chr8:130502955-130502962 chr8:130502948-130502969
7	MAX	chr8:130504256-130504268	NB4	blood:	n/a	n/a
8	MAX	chr8:130504149-130504442	K562	blood:	n/a	n/a
9	MEF2A	chr8:130502607-130503205	SK-N-SH	brain:	n/a	chr8:130503076-130503084 chr8:130502943-130502957
10	PBX3	chr8:130502590-130503164	SK-N-SH	brain:	n/a	n/a
11	POLR2A	chr8:130503295-130503799	K562	blood:	n/a	n/a
12	POLR2A	chr8:130506538-130506676	K562	blood:	n/a	n/a
13	POLR2A	chr8:130503527-130504546	K562	blood:	n/a	n/a
14	POLR2A	chr8:130504037-130504211	K562	blood:	n/a	n/a
15	POLR2A	chr8:130503776-130504065	K562	blood:	n/a	n/a
16	POLR2A	chr8:130504310-130504478	K562	blood:	n/a	n/a
17	POLR2A	chr8:130506344-130506349	K562	blood:	n/a	n/a
18	POLR2A	chr8:130504934-130505125	K562	blood:	n/a	n/a
19	POLR2A	chr8:130508821-130508984	K562	blood:	n/a	n/a
20	POLR2A	chr8:130506671-130507114	K562	blood:	n/a	n/a
21	POLR2A	chr8:130505806-130506047	K562	blood:	n/a	n/a
22	POLR2A	chr8:130505891-130505974	K562	blood:	n/a	n/a
23	POLR2A	chr8:130509476-130509554	K562	blood:	n/a	n/a
24	POLR2A	chr8:130505830-130506323	K562	blood:	n/a	n/a
25	POLR2A	chr8:130503765-130504456	K562	blood:	n/a	n/a
26	STAT3	chr8:130505292-130505492	MCF10A-Er-Src	breast:	n/a	chr8:130505481-130505492
27	STAT3	chr8:130507112-130507201	MCF10A-Er-Src	breast:	n/a	n/a
28	TCF12	chr8:130502747-130503181	SK-N-SH	brain:	n/a	n/a
29	TCF12	chr8:130502589-130503211	SK-N-SH	brain:	n/a	n/a
30	ZNF274	chr8:130509726-130509949	K562	blood:	n/a	n/a
31	ZNF274	chr8:130508519-130508728	K562	blood:	n/a	n/a

miRNA name	Chromosome Location	mirBase accession
hsa-miR-3673	chr8:130508099-130508119	MIMAT0018096
hsa-miR-3669	chr8:130509599-130509621	MIMAT0018092

Variant related genes	Relation type
ENSG00000265219	TF binding region
ENSG00000265687	TF binding region
ENSG00000266096	TF binding region
ENSG00000264680	TF binding region
ENSG00000266387	TF binding region
ENSG00000265513	TF binding region

Extended variants
information (count: 343 )
Associated
traits (count: 154 )

Variant overlapped rSNPs/rCNVs (count:343 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16904093	chr8:130503150-130503151	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs529232807	chr8:130503218-130503219	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183600667	chr8:130503219-130503220	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs565699529	chr8:130503248-130503249	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs186197225	chr8:130503268-130503269	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs577802372	chr8:130503406-130503407	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs545169637	chr8:130503423-130503424	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs551080160	chr8:130503462-130503463	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs569374111	chr8:130503486-130503487	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs191021030	chr8:130503511-130503512	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs555974504	chr8:130503523-130503524	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs183543669	chr8:130503530-130503531	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs534269080	chr8:130503538-130503539	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs187936283	chr8:130503619-130503620	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs200043410	chr8:130503656-130503657	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs578086112	chr8:130503714-130503715	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs545386684	chr8:130503724-130503725	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs147960268	chr8:130503763-130503764	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs563238732	chr8:130503770-130503771	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs575758483	chr8:130503773-130503774	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs544483461	chr8:130503792-130503793	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs191240507	chr8:130503816-130503817	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs561956871	chr8:130503926-130503927	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs529061199	chr8:130503928-130503929	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs558117431	chr8:130503967-130503968	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs182659259	chr8:130503972-130503973	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs559189385	chr8:130504038-130504039	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs530482907	chr8:130504045-130504046	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs532776406	chr8:130504082-130504083	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs550918655	chr8:130504099-130504100	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs188136100	chr8:130504156-130504157	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs115004428	chr8:130504208-130504209	Weak transcription Enhancers ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs548789847	chr8:130504212-130504213	Weak transcription Enhancers ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs567877475	chr8:130504215-130504216	Weak transcription Enhancers ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs192779003	chr8:130504239-130504240	Weak transcription Enhancers ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs553643489	chr8:130504285-130504286	Weak transcription Enhancers ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs571928539	chr8:130504298-130504299	Weak transcription Enhancers ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs115439989	chr8:130504346-130504347	Weak transcription Enhancers ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs557434779	chr8:130504395-130504396	Weak transcription Enhancers ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs575698120	chr8:130504405-130504406	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs185202624	chr8:130504412-130504413	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542338440	chr8:130504490-130504491	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554739162	chr8:130504513-130504514	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573796995	chr8:130504550-130504551	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs189127555	chr8:130504619-130504620	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs111634887	chr8:130504628-130504629	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs192124311	chr8:130504651-130504652	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs544894029	chr8:130504676-130504677	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561597004	chr8:130504756-130504757	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528796883	chr8:130504759-130504760	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:154)

Disease	PMID	Source
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
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	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	17603634	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	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
Acute myeloid leukemia	20729466	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
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	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
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Gastric cancer	21528007	CNVD
Breast cancer	22532251	CNVD
Cervical cancer	21062161	CNVD
Cancer	21129771	CNVD
benign familial neonatal convulsions	18472482	CNVD
Breast cancer	16417655	CNVD
Astrocytoma	17387387	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	20607354	CNVD
Breast cancer	20814816	CNVD
Colorectal cancer	22486879	CNVD
Breast cancer	17908964	CNVD
Colorectal cancer	20031965	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian cancer	17908964	CNVD
Ovarian cancer	20031965	CNVD
Prostate cancer	20031965	CNVD
Non-small cell lung cancer	17643093	CNVD
Prostate cancer	19242612	CNVD
Colorectal cancer	16774939	CNVD
Malignant melanoma	17260012	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute myeloid leukemia	18379011	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	22048815	CNVD
Colorectal cancer	16912164	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lung adenocarcinoma	21148746	CNVD
Lung cancer	21911935	CNVD
Breast cancer	20459607	CNVD
Medulloblastoma	19270706	CNVD
Acute myeloid leukemia	19651601	CNVD
Colorectal cancer	21645411	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Colorectal cancer	19455253	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	22860045	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Lung cancer	17925434	CNVD
Non-small cell lung cancer	21829676	CNVD
Prostate cancer	17217626	CNVD
Cancer	17160897	CNVD
Breast cancer	16497871	CNVD
Colorectal cancer	16882699	CNVD
Cystic fibrosis	19273617	CNVD
Chronic stroke	19622162	CNVD
Chordoma	18071362	CNVD
Breast cancer	17850661	CNVD
head and neck squamous cell carcinoma	16740747	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	16272173	CNVD
Uveal melanoma	20484589	CNVD
Ovarian cancer	20844748	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	16620391	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21611746	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130490200-130503400	Weak transcription	Dnd41	blood
2	chr8:130497200-130504200	Weak transcription	Thymus	Thymus
3	chr8:130497600-130503600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr8:130500800-130503400	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr8:130502400-130503600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:130502400-130504600	Enhancers	HMEC	breast
7	chr8:130502600-130503200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr8:130502600-130503400	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr8:130502600-130503600	Enhancers	NH-A	brain
10	chr8:130502600-130504200	Enhancers	NHEK	skin
11	chr8:130502600-130504400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr8:130502800-130503400	Enhancers	Osteobl	bone
13	chr8:130502800-130503600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr8:130502800-130504400	Genic enhancers	K562	blood
15	chr8:130503200-130504400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr8:130503400-130503800	Strong transcription	Dnd41	blood
17	chr8:130503600-130504400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr8:130503600-130519600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr8:130503800-130506200	Weak transcription	Dnd41	blood
20	chr8:130504200-130504400	ZNF genes & repeats	Thymus	Thymus
21	chr8:130504400-130506800	Strong transcription	K562	blood
22	chr8:130506200-130507000	ZNF genes & repeats	Dnd41	blood
23	chr8:130506800-130507800	ZNF genes & repeats	K562	blood
24	chr8:130507000-130507600	Strong transcription	Dnd41	blood
25	chr8:130507600-130516400	Weak transcription	Dnd41	blood
26	chr8:130507800-130510600	Weak transcription	K562	blood

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