Variant report

Variant	esv3350070
Chromosome Location	chr8:112035976-112040074
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F4	chr8:112037831-112038285	MCF10A-Er-Src	breast:	n/a	n/a
2	E2F4	chr8:112039585-112039783	MCF10A-Er-Src	breast:	n/a	n/a
3	NFYA	chr8:112039792-112040105	GM12878	blood:	n/a	n/a
4	POLR2A	chr8:112036102-112036372	K562	blood:	n/a	n/a
5	POLR2A	chr8:112038797-112038978	MCF10A-Er-Src	breast:	n/a	n/a
6	RFX5	chr8:112036158-112036358	K562	blood:	n/a	n/a
7	STAT3	chr8:112039989-112040032	MCF10A-Er-Src	breast:	n/a	n/a
8	STAT3	chr8:112039300-112039349	MCF10A-Er-Src	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:112037306..112039469-chr8:112041170..112043078,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KCNV1-2	chr8:112039535-112039752	XLOC_007182
2	lnc-KCNV1-2	chr8:112039535-112039662	ENSG00000253877
3	lnc-KCNV1-2	chr8:112039535-112039752	XLOC_007182
4	lnc-KCNV1-2	chr8:112039535-112039621	ENSG00000253877
5	lnc-KCNV1-2	chr8:112039535-112039641	XLOC_007182

No data

Variant related genes	Relation type
ENSG00000253877	TF binding region
TFRC	miRNA target sites

Extended variants
information (count: 131 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:131 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73702297	chr8:112036001-112036002	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs115299893	chr8:112036005-112036006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs201669489	chr8:112036006-112036007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs559655147	chr8:112036137-112036138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs573166390	chr8:112036142-112036143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs562758106	chr8:112036228-112036229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs138643482	chr8:112036239-112036240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189462520	chr8:112036305-112036306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs180906380	chr8:112036308-112036309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs374027636	chr8:112036363-112036364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs73316628	chr8:112036417-112036418	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs530300161	chr8:112036425-112036426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546979992	chr8:112036474-112036475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189660676	chr8:112036480-112036481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141661420	chr8:112036505-112036506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552243897	chr8:112036506-112036507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181136988	chr8:112036522-112036523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573515960	chr8:112036564-112036565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs114230666	chr8:112036566-112036567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568267516	chr8:112036580-112036581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs534053836	chr8:112036615-112036616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs577335143	chr8:112036658-112036659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs186289490	chr8:112036721-112036722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573187366	chr8:112036743-112036744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs545100663	chr8:112036749-112036750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558610559	chr8:112036786-112036787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs542135428	chr8:112036827-112036828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs3134525	chr8:112036870-112036871	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs190347190	chr8:112036880-112036881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs1834738	chr8:112036902-112036903	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs1834737	chr8:112036908-112036909	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs540910709	chr8:112036940-112036941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560666667	chr8:112036952-112036953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs143870545	chr8:112036965-112036966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551917740	chr8:112036988-112036989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs111412917	chr8:112037005-112037006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376984638	chr8:112037009-112037010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568895876	chr8:112037026-112037027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564216665	chr8:112037028-112037029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200560839	chr8:112037029-112037030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548316470	chr8:112037061-112037062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs1834736	chr8:112037092-112037093	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs77149481	chr8:112037120-112037121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112968544	chr8:112037161-112037162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376141624	chr8:112037206-112037207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs35615970	chr8:112037216-112037217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529712297	chr8:112037235-112037236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs541552061	chr8:112037246-112037247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs374330446	chr8:112037253-112037254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372128011	chr8:112037254-112037255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
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
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
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	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
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	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
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
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
Carcinoma ex pleomorphic adenoma	18828159	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
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	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
Chronic myeloid leukemia	21384125	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:112023200-112039000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr8:112025000-112047800	Weak transcription	K562	blood
3	chr8:112034600-112036000	Enhancers	Fetal Heart	heart
4	chr8:112034600-112036200	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr8:112035000-112037400	Weak transcription	Brain Hippocampus Middle	brain
6	chr8:112035000-112037400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr8:112035600-112036000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:112035600-112036000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr8:112035800-112037400	Weak transcription	Brain Angular Gyrus	brain
10	chr8:112035800-112038800	Weak transcription	Brain Cingulate Gyrus	brain
11	chr8:112036000-112037400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr8:112036000-112037400	Weak transcription	Fetal Heart	heart
13	chr8:112037400-112037800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr8:112037400-112037800	Active TSS	Brain Substantia Nigra	brain
15	chr8:112037400-112037800	Enhancers	Fetal Heart	heart
16	chr8:112037400-112038000	Active TSS	Brain Hippocampus Middle	brain
17	chr8:112037400-112040000	Active TSS	Brain Angular Gyrus	brain
18	chr8:112037400-112040000	Active TSS	Brain Inferior Temporal Lobe	brain
19	chr8:112037400-112040400	Active TSS	Brain Anterior Caudate	brain
20	chr8:112037800-112038800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr8:112037800-112039000	Weak transcription	Brain Substantia Nigra	brain
22	chr8:112038000-112038800	Weak transcription	Brain Hippocampus Middle	brain
23	chr8:112038800-112039400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr8:112038800-112039800	Active TSS	Brain Cingulate Gyrus	brain
25	chr8:112038800-112040000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr8:112038800-112040000	Active TSS	Brain Hippocampus Middle	brain
27	chr8:112039000-112040000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr8:112039000-112040000	Active TSS	Brain Substantia Nigra	brain
29	chr8:112039600-112040000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr8:112039800-112041200	Weak transcription	Brain Cingulate Gyrus	brain
31	chr8:112040000-112040200	Flanking Active TSS	Brain Substantia Nigra	brain
32	chr8:112040000-112040600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr8:112040000-112041600	Weak transcription	Brain Angular Gyrus	brain
34	chr8:112040000-112042800	Weak transcription	Brain Inferior Temporal Lobe	brain

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