Variant report

Variant	nsv522614
Chromosome Location	chr8:3960985-3964905
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 450 )
Associated
traits (count: 126 )

Variant overlapped rSNPs/rCNVs (count:450 , 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	rs12543779	chr8:3960985-3960986	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs570749798	chr8:3961007-3961008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs12543803	chr8:3961009-3961010	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs141184974	chr8:3961012-3961013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs145883503	chr8:3961040-3961041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs567919209	chr8:3961066-3961067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs367553713	chr8:3961068-3961069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs553495050	chr8:3961076-3961077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs367608642	chr8:3961108-3961109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs557993038	chr8:3961115-3961116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs183285873	chr8:3961132-3961133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs188022757	chr8:3961139-3961140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs558054841	chr8:3961178-3961179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs35724638	chr8:3961188-3961189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs576690957	chr8:3961193-3961194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs146643631	chr8:3961217-3961218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs140932592	chr8:3961219-3961220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs192116673	chr8:3961230-3961231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs541424570	chr8:3961233-3961234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs543523287	chr8:3961236-3961237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs578068384	chr8:3961238-3961239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs546011891	chr8:3961246-3961247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs564100163	chr8:3961248-3961249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs199674468	chr8:3961252-3961253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs565295797	chr8:3961257-3961258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs549770342	chr8:3961277-3961278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs17404489	chr8:3961279-3961280	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs528903389	chr8:3961283-3961284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs546967978	chr8:3961290-3961291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs183625518	chr8:3961294-3961295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs375022498	chr8:3961302-3961303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs539113262	chr8:3961339-3961340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs78760294	chr8:3961345-3961346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs570102735	chr8:3961359-3961360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs188670725	chr8:3961371-3961372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs115244126	chr8:3961376-3961377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs574380992	chr8:3961378-3961379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs541463100	chr8:3961386-3961387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs532509434	chr8:3961387-3961388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs138762135	chr8:3961392-3961393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs17069006	chr8:3961402-3961403	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs375366895	chr8:3961409-3961410	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs149377379	chr8:3961429-3961430	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192548462	chr8:3961432-3961433	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs184937062	chr8:3961450-3961451	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs561675786	chr8:3961452-3961453	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531337221	chr8:3961454-3961455	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs188031404	chr8:3961459-3961460	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191385177	chr8:3961467-3961468	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs17404496	chr8:3961468-3961469	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:126)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	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
Oral cancer	21386901	CNVD
Prostate cancer	21088497	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
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
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
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Epilepsy	22083797	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Breast cancer	21364760	CNVD
Cancer	20164920	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Non-small cell lung cancer	21829676	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Prostate cancer	17217626	CNVD
Developmental delay	19128483	CNVD
Neuroticism	17667963	CNVD
Leukoplakia	24403051	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	22014273	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Chronic myeloid leukemia	21384125	CNVD
Tetralogy of Fallot	22912587	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3958600-3962200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr8:3958600-3963800	Enhancers	HepG2	liver
3	chr8:3958800-3962600	Enhancers	Fetal Intestine Large	intestine
4	chr8:3958800-3962600	Enhancers	Fetal Intestine Small	intestine
5	chr8:3959000-3961600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr8:3959600-3961400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr8:3959600-3961400	Weak transcription	Fetal Muscle Leg	muscle
8	chr8:3959600-3961400	Weak transcription	Gastric	stomach
9	chr8:3959600-3961400	Weak transcription	Pancreas	Pancrea
10	chr8:3959600-3961800	Enhancers	Liver	Liver
11	chr8:3959800-3961200	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr8:3960000-3961800	Enhancers	Fetal Lung	lung
13	chr8:3960200-3961400	Weak transcription	Stomach Mucosa	stomach
14	chr8:3960400-3961000	Weak transcription	Adipose Nuclei	Adipose
15	chr8:3960400-3961400	Weak transcription	Duodenum Mucosa	Duodenum
16	chr8:3960400-3961800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr8:3960800-3961200	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr8:3961000-3962000	Enhancers	Adipose Nuclei	Adipose
19	chr8:3961200-3962600	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr8:3961200-3964800	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr8:3961400-3961600	Enhancers	Fetal Muscle Trunk	muscle
22	chr8:3961400-3961800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr8:3961400-3962000	Enhancers	Esophagus	oesophagus
24	chr8:3961400-3962000	Enhancers	Fetal Heart	heart
25	chr8:3961400-3962000	Enhancers	Gastric	stomach
26	chr8:3961400-3962000	Enhancers	Left Ventricle	heart
27	chr8:3961400-3962000	Enhancers	Lung	lung
28	chr8:3961400-3962000	Enhancers	Right Atrium	heart
29	chr8:3961400-3962000	Enhancers	Spleen	Spleen
30	chr8:3961400-3962200	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr8:3961400-3962400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr8:3961400-3962400	Enhancers	Duodenum Mucosa	Duodenum
33	chr8:3961400-3962400	Enhancers	Pancreas	Pancrea
34	chr8:3961400-3962800	Enhancers	Stomach Mucosa	stomach
35	chr8:3961400-3963200	Enhancers	Brain Germinal Matrix	brain
36	chr8:3961400-3963200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr8:3961400-3964800	Enhancers	Fetal Brain Male	brain
38	chr8:3961400-3966000	Enhancers	Fetal Muscle Leg	muscle
39	chr8:3961600-3962000	Enhancers	Brain Angular Gyrus	brain
40	chr8:3961600-3962000	Enhancers	Psoas Muscle	Psoas
41	chr8:3961600-3962400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr8:3961600-3962400	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr8:3961800-3962000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr8:3961800-3962000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr8:3961800-3962200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr8:3961800-3962200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr8:3961800-3962600	Flanking Active TSS	Liver	Liver
48	chr8:3961800-3962600	Enhancers	Brain Substantia Nigra	brain
49	chr8:3961800-3962600	Flanking Active TSS	Fetal Lung	lung
50	chr8:3961800-3962800	Enhancers	Brain Cingulate Gyrus	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links