Variant report

Variant	esv3341895
Chromosome Location	chr8:108310876-108313399
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr8:108310896-108311002	K562	blood:	n/a	n/a
2	POLR2A	chr8:108310900-108310963	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr8:108312416-108315214	K562	blood:	n/a	n/a
4	POLR2A	chr8:108309921-108311593	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:108311610..108313878-chr8:108319645..108322310,2	MCF-7	breast:
2	chr8:108305763..108307455-chr8:108312597..108314682,2	K562	blood:
3	chr8:108312705..108315142-chr8:108317270..108319695,2	MCF-7	breast:
4	chr8:108311199..108313202-chr8:108347643..108350541,2	K562	blood:
5	chr8:108310092..108312826-chr8:108342773..108344986,2	K562	blood:
6	chr8:108305763..108308421-chr8:108312233..108314682,3	K562	blood:

No data

Variant related genes	Relation type
ANGPT1	TF binding region
ENSG00000154188	chromatin interactions

Extended variants
information (count: 111 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:111 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532208283	chr8:108310892-108310893	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs116764677	chr8:108310893-108310894	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs185174729	chr8:108310919-108310920	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs537816221	chr8:108310938-108310939	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs35193737	chr8:108310982-108310983	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs548569860	chr8:108311033-108311034	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs34034886	chr8:108311170-108311171	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs539644513	chr8:108311187-108311188	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs117898499	chr8:108311190-108311191	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs534295359	chr8:108311212-108311213	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs192072202	chr8:108311278-108311279	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs577500034	chr8:108311283-108311284	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs552946116	chr8:108311291-108311292	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs556871220	chr8:108311309-108311310	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs576692866	chr8:108311314-108311315	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs543820512	chr8:108311431-108311432	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs572812222	chr8:108311432-108311433	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs560943019	chr8:108311446-108311447	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs574396861	chr8:108311482-108311483	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs541457697	chr8:108311514-108311515	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs539932164	chr8:108311525-108311526	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs563020653	chr8:108311532-108311533	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs559841552	chr8:108311578-108311579	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs71562137	chr8:108311619-108311620	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs376700547	chr8:108311620-108311621	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs532146221	chr8:108311621-108311622	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs59247214	chr8:108311642-108311643	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs79336540	chr8:108311648-108311649	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs71303453	chr8:108311649-108311650	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs35162551	chr8:108311707-108311708	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs562699250	chr8:108311714-108311715	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs34741267	chr8:108311730-108311731	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs551967977	chr8:108311731-108311732	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs562402740	chr8:108311732-108311733	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs531634581	chr8:108311743-108311744	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs200081217	chr8:108311763-108311764	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs201225760	chr8:108311781-108311782	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs548232302	chr8:108311782-108311783	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs139268479	chr8:108311798-108311799	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs182291222	chr8:108311799-108311800	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs5011240	chr8:108311856-108311857	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs111205779	chr8:108311881-108311882	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs34540943	chr8:108311892-108311893	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs191804521	chr8:108311896-108311897	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs574570923	chr8:108311937-108311938	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs559986510	chr8:108311943-108311944	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs375360226	chr8:108311985-108311986	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs543588305	chr8:108311992-108311993	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs111205780	chr8:108311995-108311996	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs111216079	chr8:108312002-108312003	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	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
small cell lung cancer	20016488	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
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Multiple myeloma	16461302	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Breast cancer	21364760	CNVD
Gastric cancer	22539939	CNVD
Non-small cell lung cancer	19010865	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:108276600-108327600	Weak transcription	Aorta	Aorta
2	chr8:108282800-108321000	Weak transcription	Psoas Muscle	Psoas
3	chr8:108294200-108315800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr8:108296600-108323200	Weak transcription	Fetal Kidney	kidney
5	chr8:108302800-108311400	Strong transcription	K562	blood
6	chr8:108304600-108326400	Weak transcription	Ovary	ovary
7	chr8:108306000-108313800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr8:108306200-108321000	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr8:108307400-108313200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr8:108307400-108313200	Weak transcription	Dnd41	blood
11	chr8:108307600-108316000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr8:108307600-108325000	Weak transcription	Adipose Nuclei	Adipose
13	chr8:108309400-108311600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr8:108310000-108311400	Enhancers	Osteobl	bone
15	chr8:108310200-108311000	Enhancers	Fetal Lung	lung
16	chr8:108310200-108311200	Enhancers	NHLF	lung
17	chr8:108310400-108311200	Enhancers	Muscle Satellite Cultured Cells	--
18	chr8:108310400-108311400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr8:108310800-108311000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr8:108311000-108311400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr8:108311000-108312600	Weak transcription	Fetal Lung	lung
22	chr8:108311200-108314000	Weak transcription	NHLF	lung
23	chr8:108311200-108314400	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr8:108311400-108312800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr8:108311400-108312800	Weak transcription	K562	blood
26	chr8:108311400-108313000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr8:108311400-108313200	Weak transcription	Osteobl	bone
28	chr8:108311600-108312400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr8:108312400-108313600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr8:108312600-108315200	Strong transcription	Fetal Lung	lung
31	chr8:108312800-108313200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr8:108312800-108315000	Strong transcription	K562	blood
33	chr8:108313000-108314400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr8:108313200-108313800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr8:108313200-108315000	Genic enhancers	Primary hematopoietic stem cells	blood
36	chr8:108313200-108316000	Enhancers	Osteobl	bone
37	chr8:108313200-108316200	Enhancers	Dnd41	blood

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