Variant report

Variant	nsv611088
Chromosome Location	chr8:39869841-39880766
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 570 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:570 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2981157	chr8:39869841-39869842	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs553068022	chr8:39869864-39869865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs569786352	chr8:39869883-39869884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs577688257	chr8:39869888-39869889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs541520523	chr8:39869895-39869896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs6474201	chr8:39869925-39869926	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs62511381	chr8:39869930-39869931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs552182970	chr8:39869993-39869994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs565728990	chr8:39870026-39870027	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs578066190	chr8:39870051-39870052	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs140802280	chr8:39870060-39870061	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs568198284	chr8:39870065-39870066	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs35601344	chr8:39870093-39870094	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs536870032	chr8:39870124-39870125	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs193244948	chr8:39870148-39870149	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576911106	chr8:39870166-39870167	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545920280	chr8:39870169-39870170	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs373308837	chr8:39870173-39870174	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs143248214	chr8:39870208-39870209	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572912332	chr8:39870252-39870253	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556896864	chr8:39870256-39870257	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs34191010	chr8:39870278-39870279	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575191061	chr8:39870300-39870301	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562266272	chr8:39870303-39870304	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs146617392	chr8:39870328-39870329	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs367703630	chr8:39870340-39870341	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560952339	chr8:39870345-39870346	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544467655	chr8:39870354-39870355	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376652729	chr8:39870359-39870360	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532244254	chr8:39870362-39870363	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2981158	chr8:39870377-39870378	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs73605143	chr8:39870422-39870423	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs185663657	chr8:39870427-39870428	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs113437769	chr8:39870490-39870491	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs2955892	chr8:39870497-39870498	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs537385959	chr8:39870504-39870505	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550339548	chr8:39870527-39870528	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs113430127	chr8:39870533-39870534	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs78632945	chr8:39870537-39870538	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs553053928	chr8:39870538-39870539	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187804364	chr8:39870556-39870557	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs567470232	chr8:39870588-39870589	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs374859679	chr8:39870602-39870603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs535497659	chr8:39870638-39870639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs374099911	chr8:39870655-39870656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs555769484	chr8:39870672-39870673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs2955893	chr8:39870673-39870674	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs2955894	chr8:39870691-39870692	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs550176219	chr8:39870694-39870695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs578223131	chr8:39870749-39870750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	21248843	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hepatocellular carcinoma	16750200	CNVD
Bladder cancer	19088036	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	17001308	CNVD
Breast cancer	17157792	CNVD
Cancer	17001308	CNVD
Cancer	18840272	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Chordoma	18071362	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21785460	CNVD
abnormal development	18461090	CNVD
Rhabdomyosarcoma	16790082	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Cancer	20164920	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Medulloblastoma	19270706	CNVD
Cancer	20164919	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:39850600-39872800	Weak transcription	Right Atrium	heart
2	chr8:39868000-39870200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:39868000-39879400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:39869200-39870200	Enhancers	Stomach Smooth Muscle	stomach
5	chr8:39869200-39871800	Enhancers	Ovary	ovary
6	chr8:39869400-39870400	Enhancers	Fetal Muscle Leg	muscle
7	chr8:39869400-39870400	Enhancers	Left Ventricle	heart
8	chr8:39869400-39871800	Enhancers	Fetal Stomach	stomach
9	chr8:39869400-39872200	Enhancers	Colon Smooth Muscle	Colon
10	chr8:39869600-39874400	Weak transcription	Right Ventricle	heart
11	chr8:39870000-39870600	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr8:39870200-39870400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr8:39870200-39870600	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr8:39870200-39872800	Weak transcription	Stomach Smooth Muscle	stomach
15	chr8:39870200-39873600	Enhancers	Fetal Lung	lung
16	chr8:39870400-39871000	Weak transcription	Fetal Muscle Leg	muscle
17	chr8:39870400-39871000	Enhancers	Rectal Smooth Muscle	rectum
18	chr8:39870800-39872400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr8:39871000-39871200	Enhancers	Fetal Muscle Leg	muscle
20	chr8:39871000-39871400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr8:39871200-39873000	Weak transcription	Fetal Muscle Leg	muscle
22	chr8:39871400-39872400	Enhancers	Rectal Smooth Muscle	rectum
23	chr8:39871800-39873000	Weak transcription	Ovary	ovary
24	chr8:39872000-39872400	Enhancers	A549	lung
25	chr8:39872800-39873000	Enhancers	Stomach Smooth Muscle	stomach
26	chr8:39872800-39873200	Enhancers	Fetal Muscle Trunk	muscle
27	chr8:39872800-39873200	Enhancers	Right Atrium	heart
28	chr8:39873000-39873200	Enhancers	Fetal Muscle Leg	muscle
29	chr8:39873000-39873200	Enhancers	Ovary	ovary
30	chr8:39879400-39879800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr8:39879600-39879800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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