Variant report

Variant	nsv6148
Chromosome Location	chr8:34669644-34714096
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	chr8:34703366..34705867-chr8:34708071..34710392,2	K562	blood:
2	chr8:34703366..34705867-chr8:34708071..34710392,2	K562	blood:

Extended variants
information (count: 1663 )
Associated
traits (count: 117 )

Variant overlapped rSNPs/rCNVs (count:1663 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73576143	chr8:34669671-34669672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs140281080	chr8:34669711-34669712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs561817922	chr8:34669784-34669785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs189805654	chr8:34669833-34669834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs142923431	chr8:34669871-34669872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs2256710	chr8:34669883-34669884	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs16915	chr8:34669912-34669913	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs566767551	chr8:34669943-34669944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs558935836	chr8:34669982-34669983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs376022066	chr8:34670029-34670030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs532820253	chr8:34670045-34670046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs535936482	chr8:34670068-34670069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs376906813	chr8:34670070-34670071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs180989926	chr8:34670108-34670109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs553308137	chr8:34670127-34670128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs115446162	chr8:34670167-34670168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs535633969	chr8:34670183-34670184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs551797030	chr8:34670199-34670200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs570027214	chr8:34670209-34670210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs575276504	chr8:34670285-34670286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs537588029	chr8:34670296-34670297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs557699131	chr8:34670316-34670317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs147430640	chr8:34670332-34670333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs114571793	chr8:34670344-34670345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs562051510	chr8:34670362-34670363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs551188277	chr8:34670392-34670393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs569777622	chr8:34670431-34670432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs148466762	chr8:34670433-34670434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs115127698	chr8:34670444-34670445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs186367726	chr8:34670454-34670455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs2257117	chr8:34670476-34670477	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs190917848	chr8:34670540-34670541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs554662908	chr8:34670549-34670550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs551606184	chr8:34670550-34670551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs184111449	chr8:34670576-34670577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs534513709	chr8:34670583-34670584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs2257183	chr8:34670591-34670592	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs148443655	chr8:34670618-34670619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs527695952	chr8:34670692-34670693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs549437622	chr8:34670725-34670726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs142622723	chr8:34670728-34670729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs34667086	chr8:34670757-34670758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs577558525	chr8:34670799-34670800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs535775818	chr8:34670801-34670802	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs150972461	chr8:34670812-34670813	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs568970630	chr8:34670890-34670891	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs575905426	chr8:34670938-34670939	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs539490013	chr8:34670951-34670952	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs139319315	chr8:34670954-34670955	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs572755861	chr8:34670959-34670960	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:117)

Disease	PMID	Source
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	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
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
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
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	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
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	21806811	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hepatocellular carcinoma	16750200	CNVD
Bladder cancer	19088036	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	20459607	CNVD
Renal cell carcinoma	18765545	CNVD
Colorectal cancer	16912164	CNVD
Neuroticism	17667963	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
Urothelial carcinoma	18382360	CNVD
Ductal carcinoma	18381933	CNVD
Breast cancer	21328542	CNVD
Squamous cell cancer	20885788	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Intellectual disability	22045946	CNVD
Lung cancer	17925434	CNVD
Uveal melanoma	20484589	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21364760	CNVD
Ewing''s sarcoma	17952124	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:34663200-34673000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:34669600-34669800	Enhancers	Brain Hippocampus Middle	brain
3	chr8:34669800-34670200	Enhancers	Brain Angular Gyrus	brain
4	chr8:34669800-34670800	Weak transcription	Brain Hippocampus Middle	brain
5	chr8:34669800-34670800	Enhancers	Brain Substantia Nigra	brain
6	chr8:34670800-34671000	Flanking Active TSS	Brain Hippocampus Middle	brain
7	chr8:34670800-34671200	Active TSS	Brain Substantia Nigra	brain
8	chr8:34671000-34671400	Active TSS	Brain Hippocampus Middle	brain
9	chr8:34673000-34673400	Strong transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr8:34673000-34673400	ZNF genes & repeats	Pancreas	Pancrea
11	chr8:34673400-34701600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr8:34675400-34675800	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr8:34675600-34675800	Enhancers	H9 Cell Line	embryonic stem cell
14	chr8:34675600-34675800	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr8:34675600-34676000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr8:34675600-34676000	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr8:34675800-34676000	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr8:34675800-34677400	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr8:34676000-34677600	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr8:34676400-34678400	Enhancers	HUVEC	blood vessel
21	chr8:34677200-34678400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr8:34677200-34678400	Enhancers	NH-A	brain
23	chr8:34677400-34678400	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr8:34677400-34678400	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr8:34677600-34678200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr8:34677600-34678200	Enhancers	Brain Germinal Matrix	brain
27	chr8:34677600-34678400	Enhancers	H9 Cell Line	embryonic stem cell
28	chr8:34677600-34678400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:34677600-34678400	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr8:34677600-34678400	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr8:34677600-34678400	Enhancers	HMEC	breast
32	chr8:34677800-34678400	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr8:34684600-34684800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr8:34687000-34687600	Enhancers	HMEC	breast
35	chr8:34687000-34688600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr8:34687200-34687600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr8:34687600-34688800	Weak transcription	HMEC	breast
38	chr8:34687600-34689400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr8:34688800-34690800	Enhancers	HMEC	breast
40	chr8:34689400-34690400	Enhancers	HUVEC	blood vessel
41	chr8:34689400-34690600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr8:34690000-34690400	Enhancers	NH-A	brain
43	chr8:34690400-34695000	Weak transcription	HUVEC	blood vessel
44	chr8:34690600-34694600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr8:34694600-34696600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr8:34694600-34696600	Enhancers	HMEC	breast
47	chr8:34694800-34695200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr8:34695000-34695200	Flanking Active TSS	HUVEC	blood vessel
49	chr8:34695200-34695400	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr8:34695200-34695400	Enhancers	HUVEC	blood vessel

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