Variant report

Variant	esv1795740
Chromosome Location	chr8:107406143-107417676
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:89626976..89627502-chr8:107414504..107415468,2	MCF-7	breast:
2	chr8:107221506..107223299-chr8:107416923..107419855,2	K562	blood:

Variant related genes	Relation type
ENSG00000167526	chromatin interactions

Extended variants
information (count: 429 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:429 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540798081	chr8:107406180-107406181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs145172994	chr8:107406209-107406210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs374783912	chr8:107406246-107406247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs1954752	chr8:107406409-107406410	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs138996330	chr8:107406433-107406434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563038259	chr8:107406461-107406462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs35367985	chr8:107406476-107406477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530026014	chr8:107406514-107406515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558837003	chr8:107406524-107406525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571838717	chr8:107406532-107406533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548204863	chr8:107406555-107406556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs10108280	chr8:107406650-107406651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs118126709	chr8:107406663-107406664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551910445	chr8:107406665-107406666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs372891527	chr8:107406666-107406667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572598511	chr8:107406705-107406706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs182174183	chr8:107406771-107406772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538089453	chr8:107406775-107406776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549596480	chr8:107406872-107406873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs186539297	chr8:107406878-107406879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189878470	chr8:107406879-107406880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs2186401	chr8:107406930-107406931	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs553821709	chr8:107406950-107406951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs73305190	chr8:107406966-107406967	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs534499046	chr8:107406997-107406998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs2154669	chr8:107407040-107407041	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs181146858	chr8:107407102-107407103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs185399392	chr8:107407104-107407105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs149359273	chr8:107407105-107407106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs574897550	chr8:107407121-107407122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs541787501	chr8:107407167-107407168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189958677	chr8:107407180-107407181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182240260	chr8:107407182-107407183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs36065811	chr8:107407196-107407197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs397738653	chr8:107407198-107407199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs397961993	chr8:107407199-107407200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs144666071	chr8:107407232-107407233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs563314581	chr8:107407233-107407234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531385157	chr8:107407249-107407250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs61059494	chr8:107407269-107407270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs397731191	chr8:107407275-107407276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549971235	chr8:107407328-107407329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568028818	chr8:107407343-107407344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs186564839	chr8:107407409-107407410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547372626	chr8:107407464-107407465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs77951349	chr8:107407485-107407486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191029031	chr8:107407487-107407488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs553261953	chr8:107407488-107407489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552254214	chr8:107407536-107407537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs559276332	chr8:107407543-107407544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
Thoracic aortic aneurysm	21092924	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
Colorectal cancer	21645411	CNVD
Multiple myeloma	17550852	CNVD

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:107362400-107427000	Weak transcription	Aorta	Aorta
2	chr8:107374400-107409800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr8:107398200-107409400	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr8:107404200-107409400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr8:107404400-107447000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:107405200-107410600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr8:107405400-107409400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr8:107405400-107409400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr8:107405400-107410000	Weak transcription	HMEC	breast
10	chr8:107405400-107410200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr8:107405600-107409800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr8:107405600-107410000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr8:107405600-107410000	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr8:107405600-107410000	Weak transcription	NH-A	brain
15	chr8:107405600-107410000	Weak transcription	NHEK	skin
16	chr8:107405600-107410000	Weak transcription	Osteobl	bone
17	chr8:107405800-107409200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr8:107405800-107409400	Weak transcription	NHDF-Ad	bronchial
19	chr8:107406000-107410000	Weak transcription	HUVEC	blood vessel
20	chr8:107409200-107411400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr8:107409400-107410200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr8:107409400-107411200	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr8:107409400-107411200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr8:107409400-107411200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr8:107409400-107411200	Enhancers	NHDF-Ad	bronchial
26	chr8:107409800-107410400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr8:107409800-107411400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr8:107410000-107410400	Enhancers	HMEC	breast
29	chr8:107410000-107410800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr8:107410000-107410800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr8:107410000-107410800	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr8:107410000-107411000	Enhancers	Muscle Satellite Cultured Cells	--
33	chr8:107410000-107411000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr8:107410000-107411000	Enhancers	Brain Cingulate Gyrus	brain
35	chr8:107410000-107411000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr8:107410000-107411000	Enhancers	HUVEC	blood vessel
37	chr8:107410000-107411200	Enhancers	NH-A	brain
38	chr8:107410000-107411200	Enhancers	Osteobl	bone
39	chr8:107410000-107411600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr8:107410000-107411800	Enhancers	NHEK	skin
41	chr8:107410200-107410800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr8:107410200-107411000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr8:107410200-107411000	Enhancers	Brain Anterior Caudate	brain
44	chr8:107410200-107411000	Enhancers	Placenta Amnion	Placenta Amnion
45	chr8:107410200-107411200	Enhancers	Brain Hippocampus Middle	brain
46	chr8:107410200-107412000	Enhancers	Brain Angular Gyrus	brain
47	chr8:107410400-107410600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr8:107410400-107410600	Flanking Active TSS	HMEC	breast
49	chr8:107410400-107410800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr8:107410400-107411000	Enhancers	ES-I3 Cell Line	embryonic stem cell

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