Variant report

Variant	nsv397288
Chromosome Location	chr8:86055325-86057070
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192967978	chr8:86055330-86055331	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs183876944	chr8:86055364-86055365	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs7814435	chr8:86055413-86055414	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs539561422	chr8:86055460-86055461	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs541560147	chr8:86055472-86055473	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557800800	chr8:86055492-86055493	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs561412500	chr8:86055517-86055518	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530338284	chr8:86055539-86055540	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546830940	chr8:86055564-86055565	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188218219	chr8:86055570-86055571	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532734138	chr8:86055588-86055589	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs371923108	chr8:86055594-86055595	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs376496993	chr8:86055663-86055664	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs572759352	chr8:86055689-86055690	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs552899520	chr8:86055697-86055698	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs111821555	chr8:86055699-86055700	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs538224213	chr8:86055704-86055705	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs548713388	chr8:86055769-86055770	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs533735685	chr8:86055875-86055876	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs150824110	chr8:86055970-86055971	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs34527380	chr8:86056031-86056032	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs371943883	chr8:86056112-86056113	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576966849	chr8:86056160-86056161	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539377060	chr8:86056180-86056181	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556025959	chr8:86056190-86056191	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544881178	chr8:86056250-86056251	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs139275664	chr8:86056266-86056267	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs368832615	chr8:86056355-86056356	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs34616265	chr8:86056361-86056362	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs62525426	chr8:86056411-86056412	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs541398076	chr8:86056432-86056433	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs561824543	chr8:86056585-86056586	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs150058314	chr8:86056638-86056639	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs398008589	chr8:86056643-86056644	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs202029150	chr8:86056652-86056653	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs202137683	chr8:86056653-86056654	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200171520	chr8:86056654-86056655	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200164524	chr8:86056663-86056664	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201121031	chr8:86056664-86056665	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201342092	chr8:86056665-86056666	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs202074042	chr8:86056676-86056677	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs142049146	chr8:86056678-86056679	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs202051319	chr8:86056679-86056680	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs13277038	chr8:86056681-86056682	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371425891	chr8:86056700-86056701	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200281284	chr8:86056702-86056703	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201946809	chr8:86056704-86056705	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs11989293	chr8:86056711-86056712	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs56095819	chr8:86056723-86056724	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572003378	chr8:86056744-86056745	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:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86020000-86057400	Weak transcription	Small Intestine	intestine
2	chr8:86020400-86055400	Weak transcription	Fetal Kidney	kidney
3	chr8:86020400-86055400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr8:86020400-86056400	Weak transcription	Gastric	stomach
5	chr8:86020400-86057400	Weak transcription	Aorta	Aorta
6	chr8:86020400-86062600	Weak transcription	Pancreas	Pancrea
7	chr8:86020600-86058800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr8:86021200-86058800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr8:86021200-86059600	Weak transcription	Fetal Brain Male	brain
10	chr8:86021400-86058400	Weak transcription	Brain Germinal Matrix	brain
11	chr8:86025200-86057400	Weak transcription	Fetal Muscle Trunk	muscle
12	chr8:86028400-86059000	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr8:86028600-86056400	Weak transcription	Ovary	ovary
14	chr8:86032800-86057400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr8:86033000-86059800	Weak transcription	Fetal Thymus	thymus
16	chr8:86035200-86055600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr8:86037000-86061200	Weak transcription	Brain Anterior Caudate	brain
18	chr8:86037400-86056000	Weak transcription	Right Ventricle	heart
19	chr8:86038000-86057200	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr8:86038800-86057400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr8:86039400-86056200	Weak transcription	Brain Hippocampus Middle	brain
22	chr8:86039600-86058400	Weak transcription	Esophagus	oesophagus
23	chr8:86040200-86056600	Weak transcription	Fetal Brain Female	brain
24	chr8:86040600-86062000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr8:86043000-86058800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr8:86043200-86057200	Weak transcription	Left Ventricle	heart
27	chr8:86044200-86060000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr8:86044400-86056200	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr8:86045600-86056400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:86045600-86057200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr8:86046200-86055600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr8:86046600-86064800	Weak transcription	Thymus	Thymus
33	chr8:86046600-86065800	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr8:86048800-86059000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr8:86049400-86056200	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr8:86049400-86056400	Weak transcription	Fetal Muscle Leg	muscle
37	chr8:86049400-86057400	Weak transcription	Fetal Intestine Large	intestine
38	chr8:86049400-86065800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr8:86050200-86055800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr8:86050800-86056200	Weak transcription	HMEC	breast
41	chr8:86050800-86061400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr8:86051000-86056800	Weak transcription	Fetal Lung	lung
43	chr8:86051000-86057200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr8:86051000-86057400	Weak transcription	Adipose Nuclei	Adipose
45	chr8:86051000-86057600	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr8:86051000-86059800	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr8:86051200-86057400	Weak transcription	Duodenum Mucosa	Duodenum
48	chr8:86051400-86055600	Weak transcription	K562	blood
49	chr8:86051400-86057800	Weak transcription	Brain Angular Gyrus	brain
50	chr8:86053000-86055800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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