Variant report

Variant	nsv981998
Chromosome Location	chr8:86183119-86187966
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	chr8:86176950..86178514-chr8:86185372..86187866,2	K562	blood:

Extended variants
information (count: 166 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:166 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541749193	chr8:86183244-86183245	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs559778013	chr8:86183349-86183350	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190024205	chr8:86183379-86183380	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs530342373	chr8:86183433-86183434	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs79756336	chr8:86183473-86183474	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576573496	chr8:86183505-86183506	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200091453	chr8:86183525-86183526	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs545492502	chr8:86183529-86183530	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs143507614	chr8:86183558-86183559	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs77333476	chr8:86183640-86183641	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs4739700	chr8:86183670-86183671	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs530635049	chr8:86183684-86183685	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs150924466	chr8:86183711-86183712	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs182311670	chr8:86183788-86183789	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs540665420	chr8:86183815-86183816	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs187748573	chr8:86183874-86183875	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570476698	chr8:86183890-86183891	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs532699118	chr8:86183898-86183899	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs192042096	chr8:86183903-86183904	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs114129928	chr8:86183967-86183968	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531367116	chr8:86184004-86184005	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548483504	chr8:86184065-86184066	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs140684316	chr8:86184067-86184068	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369924593	chr8:86184069-86184070	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547038360	chr8:86184095-86184096	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs570069530	chr8:86184156-86184157	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183872714	chr8:86184177-86184178	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546908160	chr8:86184198-86184199	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376688729	chr8:86184216-86184217	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538084942	chr8:86184257-86184258	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs374321388	chr8:86184258-86184259	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564699285	chr8:86184338-86184339	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188406475	chr8:86184367-86184368	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs575069853	chr8:86184421-86184422	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs113014331	chr8:86184539-86184540	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560490895	chr8:86184558-86184559	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577267363	chr8:86184560-86184561	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs546333536	chr8:86184625-86184626	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562810294	chr8:86184641-86184642	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs138474430	chr8:86184667-86184668	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548128549	chr8:86184699-86184700	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs377720974	chr8:86184766-86184767	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561919303	chr8:86184786-86184787	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs527586284	chr8:86184838-86184839	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs114780938	chr8:86184844-86184845	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570129822	chr8:86184942-86184943	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs192309780	chr8:86184960-86184961	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549728315	chr8:86184980-86184981	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs376348364	chr8:86185038-86185039	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs370460188	chr8:86185039-86185040	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
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
Autism	22495311	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
Acute lymphoblastic leukemia	22237106	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
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	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
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
Acute lymphoblastic leukemia	18458336	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
Epilepsy	20502679	CNVD
Acute monocytic leukemia	16498392	CNVD
Autism	20841430	CNVD

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86158400-86185800	Weak transcription	Lung	lung
2	chr8:86158400-86188200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:86158400-86188200	Weak transcription	Esophagus	oesophagus
4	chr8:86158400-86191400	Weak transcription	Pancreas	Pancrea
5	chr8:86158800-86185600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr8:86158800-86185800	Weak transcription	Fetal Stomach	stomach
7	chr8:86158800-86186800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr8:86158800-86189600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr8:86158800-86191400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr8:86167800-86185600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr8:86168000-86187800	Weak transcription	HMEC	breast
12	chr8:86168000-86196200	Weak transcription	NHEK	skin
13	chr8:86168000-86199000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr8:86170600-86191800	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr8:86170800-86204400	Weak transcription	Ovary	ovary
16	chr8:86172200-86191400	Weak transcription	Primary T cells from cord blood	blood
17	chr8:86174600-86198200	Weak transcription	Left Ventricle	heart
18	chr8:86175800-86191200	Weak transcription	Brain Hippocampus Middle	brain
19	chr8:86175800-86191800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr8:86176400-86195000	Weak transcription	Primary B cells from peripheral blood	blood
21	chr8:86176800-86187800	Weak transcription	Primary B cells from cord blood	blood
22	chr8:86177200-86187600	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr8:86177600-86191200	Weak transcription	Right Ventricle	heart
24	chr8:86178000-86198200	Weak transcription	Aorta	Aorta
25	chr8:86178200-86183200	Weak transcription	GM12878-XiMat	blood
26	chr8:86178200-86184200	Weak transcription	Brain Angular Gyrus	brain
27	chr8:86178200-86193400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr8:86178600-86185600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr8:86179000-86191200	Weak transcription	Stomach Mucosa	stomach
30	chr8:86179800-86185800	Weak transcription	Gastric	stomach
31	chr8:86180000-86185400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr8:86180000-86187200	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr8:86180200-86184200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr8:86181200-86191400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr8:86181600-86190800	Weak transcription	Small Intestine	intestine
36	chr8:86181600-86191400	Weak transcription	Fetal Lung	lung
37	chr8:86182000-86183800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr8:86182000-86184800	Strong transcription	Duodenum Mucosa	Duodenum
39	chr8:86182200-86189200	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr8:86182400-86189200	Weak transcription	Liver	Liver
41	chr8:86182600-86184000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr8:86182600-86184000	Weak transcription	Fetal Intestine Large	intestine
43	chr8:86182600-86184000	Weak transcription	Fetal Intestine Small	intestine
44	chr8:86182600-86185200	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr8:86182600-86185200	Weak transcription	HepG2	liver
46	chr8:86182600-86196000	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr8:86182800-86183800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr8:86182800-86185800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr8:86183000-86190000	Weak transcription	Colonic Mucosa	Colon
50	chr8:86183800-86190200	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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