Variant report

Variant	esv2761456
Chromosome Location	chr8:105902833-105913971
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	chr8:105913890..105915862-chr8:105917071..105918890,2	K562	blood:

Extended variants
information (count: 412 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:412 , 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	rs150372534	chr8:105902843-105902844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs6468970	chr8:105902962-105902963	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs137936810	chr8:105902983-105902984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs34743410	chr8:105903018-105903019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547008637	chr8:105903028-105903029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs565599883	chr8:105903044-105903045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs532718899	chr8:105903056-105903057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs186814754	chr8:105903085-105903086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs189732142	chr8:105903096-105903097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs73308809	chr8:105903107-105903108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs78437545	chr8:105903125-105903126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs548158364	chr8:105903126-105903127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs181368030	chr8:105903127-105903128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs7840829	chr8:105903208-105903209	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs111557615	chr8:105903243-105903244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs138697246	chr8:105903282-105903283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs537606824	chr8:105903288-105903289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs555940590	chr8:105903316-105903317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs568837723	chr8:105903357-105903358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs61143677	chr8:105903407-105903408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs398096015	chr8:105903409-105903410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs149409568	chr8:105903422-105903423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs199682160	chr8:105903438-105903439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs386413565	chr8:105903439-105903440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs35050006	chr8:105903440-105903441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs34990474	chr8:105903441-105903442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs561316587	chr8:105903498-105903499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs546914343	chr8:105903550-105903551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs537826748	chr8:105903557-105903558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs573129100	chr8:105903565-105903566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs73308810	chr8:105903587-105903588	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs532859868	chr8:105903599-105903600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs551193844	chr8:105903603-105903604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs563115120	chr8:105903613-105903614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs371807903	chr8:105903616-105903617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs537466399	chr8:105903649-105903650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs373105756	chr8:105903653-105903654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs79419541	chr8:105903665-105903666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs117237211	chr8:105903677-105903678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs78317856	chr8:105903798-105903799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs551762029	chr8:105903800-105903801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs72670229	chr8:105903801-105903802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs189870134	chr8:105903861-105903862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs57335684	chr8:105903914-105903915	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs183218695	chr8:105903928-105903929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs139723220	chr8:105903987-105903988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs78216688	chr8:105904012-105904013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs116568278	chr8:105904026-105904027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs144767804	chr8:105904079-105904080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs62511505	chr8:105904095-105904096	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

Disease	PMID	Source
Gastric cancer	17908304	CNVD
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
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
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16461302	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	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
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Sezary syndrome	18413736	CNVD
Urothelial cell carcinoma	18451213	CNVD
Colorectal cancer	21645411	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	16912164	CNVD
Breast cancer	20409316	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Oral squamous cell carcinoma	21853135	CNVD

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105898000-105905000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr8:105899200-105903400	Weak transcription	NHDF-Ad	bronchial
3	chr8:105899400-105903400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr8:105899600-105903400	Weak transcription	NH-A	brain
5	chr8:105901600-105903200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr8:105903200-105904400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr8:105903400-105904200	Enhancers	NH-A	brain
8	chr8:105903400-105904200	Enhancers	NHDF-Ad	bronchial
9	chr8:105903400-105904200	Enhancers	Osteobl	bone
10	chr8:105903400-105904400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr8:105903800-105904200	Enhancers	Muscle Satellite Cultured Cells	--
12	chr8:105903800-105905200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr8:105904200-105904800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:105904400-105907200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr8:105904400-105908200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr8:105904800-105905000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:105905000-105907400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr8:105905000-105908200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:105905200-105906400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr8:105906400-105906600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr8:105906400-105906600	Enhancers	Fetal Stomach	stomach
22	chr8:105906400-105906800	Enhancers	Fetal Heart	heart
23	chr8:105906600-105907000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr8:105906600-105907200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr8:105906800-105908000	Weak transcription	Fetal Stomach	stomach
26	chr8:105907000-105908800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr8:105907000-105908800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr8:105907000-105909400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr8:105907200-105908000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr8:105907200-105908200	Enhancers	HMEC	breast
31	chr8:105907200-105908400	Enhancers	Stomach Smooth Muscle	stomach
32	chr8:105907200-105908800	Enhancers	Brain Hippocampus Middle	brain
33	chr8:105907200-105909200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr8:105907200-105909200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr8:105907200-105909400	Enhancers	Brain Substantia Nigra	brain
36	chr8:105907200-105909600	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr8:105907200-105909600	Enhancers	Brain Angular Gyrus	brain
38	chr8:105907200-105909600	Enhancers	Brain Anterior Caudate	brain
39	chr8:105907400-105907800	Enhancers	Gastric	stomach
40	chr8:105907400-105908200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr8:105907400-105908400	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr8:105907400-105909000	Enhancers	Colon Smooth Muscle	Colon
43	chr8:105907400-105909400	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr8:105907600-105908800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr8:105907600-105908800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr8:105907600-105909400	Enhancers	Brain Cingulate Gyrus	brain
47	chr8:105907800-105908200	Weak transcription	Gastric	stomach
48	chr8:105908000-105908400	Enhancers	Brain Germinal Matrix	brain
49	chr8:105908000-105909000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr8:105908000-105909000	Enhancers	Fetal Stomach	stomach

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