Variant report

Variant	esv1799633
Chromosome Location	chr8:131039142-131078918
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:39)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

No data

(count:39 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:131057701..131060248-chr8:131066752..131069472,2	K562	blood:
2	chr8:131027513..131029162-chr8:131042930..131045910,2	K562	blood:
3	chr8:131026997..131029711-chr8:131043546..131046545,5	MCF-7	breast:
4	chr8:131046067..131048121-chr8:131048758..131051372,2	K562	blood:
5	chr8:131046067..131048121-chr8:131048758..131051372,2	K562	blood:
6	chr8:131076898..131078962-chr8:131090903..131093353,2	MCF-7	breast:
7	chr8:131056726..131059122-chr8:131059475..131061608,2	K562	blood:
8	chr8:131044244..131046702-chr8:131056220..131058655,2	MCF-7	breast:
9	chr12:11801638..11802342-chr8:131054390..131055145,2	Hela-S3	cervix:
10	chr8:131007627..131010623-chr8:131045952..131048257,2	MCF-7	breast:
11	chr8:131032809..131035482-chr8:131037784..131039457,2	K562	blood:
12	chr8:131057701..131060248-chr8:131066752..131069472,2	K562	blood:
13	chr8:131045657..131048618-chr8:131053552..131056058,2	K562	blood:
14	chr8:130924171..130926476-chr8:131049925..131052466,2	K562	blood:
15	chr8:131047199..131051287-chr8:131052494..131054886,3	MCF-7	breast:
16	chr8:131028531..131030191-chr8:131045275..131047390,2	MCF-7	breast:
17	chr8:131056726..131059122-chr8:131059475..131061608,2	K562	blood:
18	chr8:131025540..131027750-chr8:131037896..131040382,2	MCF-7	breast:
19	chr8:131052756..131054836-chr8:131056637..131059542,2	K562	blood:
20	chr8:131027692..131029590-chr8:131050747..131052375,2	K562	blood:
21	chr8:131047787..131050637-chr8:131067949..131069907,2	MCF-7	breast:
22	chr8:131027337..131029043-chr8:131052659..131055110,2	MCF-7	breast:
23	chr8:131027480..131030548-chr8:131053151..131055145,3	K562	blood:
24	chr8:130950187..130952825-chr8:131053806..131055641,2	MCF-7	breast:
25	chr8:131067228..131068888-chr8:131073301..131075173,2	K562	blood:
26	chr8:131076275..131077989-chr8:131079170..131082026,2	K562	blood:
27	chr8:131045657..131048618-chr8:131053552..131056058,2	K562	blood:
28	chr8:131027299..131028971-chr8:131040376..131042897,2	K562	blood:
29	chr8:131047199..131051287-chr8:131052494..131054886,3	MCF-7	breast:
30	chr8:131031108..131033473-chr8:131036840..131039215,2	MCF-7	breast:
31	chr8:131035060..131037464-chr8:131038992..131041654,2	K562	blood:
32	chr8:131062555..131064822-chr8:131096828..131099567,2	K562	blood:
33	chr8:131027127..131029868-chr8:131056253..131058573,2	MCF-7	breast:
34	chr8:131067228..131068888-chr8:131073301..131075173,2	K562	blood:
35	chr8:131047787..131050637-chr8:131067949..131069907,2	MCF-7	breast:
36	chr8:131052756..131054836-chr8:131056637..131059542,2	K562	blood:
37	chr8:131074125..131075625-chr8:131086340..131089322,2	K562	blood:
38	chr8:131044244..131046702-chr8:131056220..131058655,2	MCF-7	breast:
39	chr8:131027956..131030548-chr8:131051985..131055056,3	K562	blood:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	ASAP1	hsa-miR-98-5p	chr8:131066295-131066316

Variant related genes	Relation type
ENSG00000153310	chromatin interactions
ENSG00000200304	chromatin interactions
ENSG00000253720	chromatin interactions

Extended variants
information (count: 1771 )
Associated
traits (count: 155 )

Variant overlapped rSNPs/rCNVs (count:1771 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7820954	chr8:131039142-131039143	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs548676816	chr8:131039157-131039158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs192549969	chr8:131039224-131039225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs534064173	chr8:131039229-131039230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs112347725	chr8:131039233-131039234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs570802602	chr8:131039246-131039247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs142627267	chr8:131039247-131039248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs146031513	chr8:131039292-131039293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs6990503	chr8:131039361-131039362	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs183683994	chr8:131039363-131039364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs199576417	chr8:131039429-131039430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs10616263	chr8:131039444-131039445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554333004	chr8:131039453-131039454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs10505546	chr8:131039509-131039510	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs78120660	chr8:131039649-131039650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188556471	chr8:131039652-131039653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs193086687	chr8:131039653-131039654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs115448154	chr8:131039800-131039801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs10755933	chr8:131039823-131039824	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs184826192	chr8:131039836-131039837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs9297803	chr8:131039857-131039858	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs141791758	chr8:131039885-131039886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548788690	chr8:131039887-131039888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs373624123	chr8:131039941-131039942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560552841	chr8:131039960-131039961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs144488279	chr8:131040000-131040001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552432962	chr8:131040055-131040056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546945425	chr8:131040057-131040058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200558666	chr8:131040058-131040059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570785614	chr8:131040107-131040108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs187686314	chr8:131040141-131040142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550433718	chr8:131040148-131040149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs371618733	chr8:131040151-131040152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568827305	chr8:131040173-131040174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372175457	chr8:131040187-131040188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs397891881	chr8:131040229-131040230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs536168894	chr8:131040239-131040240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs191377010	chr8:131040382-131040383	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs79074505	chr8:131040416-131040417	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs368005717	chr8:131040486-131040487	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs533843253	chr8:131040556-131040557	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs558371473	chr8:131040571-131040572	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs74829095	chr8:131040582-131040583	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs148436371	chr8:131040618-131040619	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs1902016	chr8:131040648-131040649	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs139434952	chr8:131040741-131040742	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs56020982	chr8:131040753-131040754	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs142573908	chr8:131040754-131040755	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs58014587	chr8:131040758-131040759	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs150500487	chr8:131040761-131040762	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:155)

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
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21611746	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Prostate cancer	22341455	CNVD
Osteosarcoma	21215367	CNVD

Chromatin state (count:1629 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131029400-131041200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:131029600-131041000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:131029600-131041000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr8:131032600-131041000	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr8:131032600-131042000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr8:131032800-131040400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr8:131032800-131041200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr8:131034200-131040400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr8:131034400-131040200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr8:131035600-131041200	Weak transcription	Fetal Heart	heart
11	chr8:131035600-131042400	Weak transcription	Hela-S3	cervix
12	chr8:131036400-131045800	Weak transcription	A549	lung
13	chr8:131037200-131040200	Weak transcription	Placenta	Placenta
14	chr8:131037200-131041000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr8:131037200-131041200	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr8:131037400-131040400	Weak transcription	Fetal Thymus	thymus
17	chr8:131037400-131041000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr8:131038200-131039400	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr8:131038600-131039400	Enhancers	H1 Cell Line	embryonic stem cell
20	chr8:131038800-131040400	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr8:131039000-131040600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr8:131039000-131045400	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr8:131039400-131040400	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr8:131039400-131041400	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr8:131040200-131041000	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr8:131040200-131042800	Enhancers	Placenta	Placenta
27	chr8:131040400-131041200	Enhancers	Fetal Thymus	thymus
28	chr8:131040400-131041600	Enhancers	H1 Cell Line	embryonic stem cell
29	chr8:131040400-131041800	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr8:131040400-131043000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr8:131040400-131043000	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr8:131040600-131042200	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr8:131041000-131041200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr8:131041000-131041600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr8:131041000-131041800	Enhancers	H9 Cell Line	embryonic stem cell
36	chr8:131041000-131042800	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr8:131041000-131043000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr8:131041000-131043000	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr8:131041200-131041400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr8:131041200-131041800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr8:131041200-131041800	Enhancers	Fetal Heart	heart
42	chr8:131041200-131042000	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr8:131041200-131042000	Weak transcription	Fetal Thymus	thymus
44	chr8:131041200-131043000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr8:131041200-131043000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr8:131041200-131046200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr8:131041400-131042200	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr8:131041400-131068600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr8:131041600-131042600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr8:131041800-131042600	Weak transcription	H9 Cell Line	embryonic stem cell

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