Variant report

Variant	nsv890717
Chromosome Location	chr8:35184361-35315188
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:35236339..35238040-chr8:35238233..35240737,2	K562	blood:
2	chr8:35296849..35299028-chr8:35299266..35301130,2	MCF-7	breast:
3	chr8:35309662..35311958-chr8:35313825..35315981,2	K562	blood:
4	chr8:35236339..35238040-chr8:35238233..35240737,2	K562	blood:
5	chr8:35309662..35311958-chr8:35313825..35315981,2	K562	blood:
6	chr8:35296849..35299028-chr8:35299266..35301130,2	MCF-7	breast:
7	chr8:35296451..35297364-chr8:35998554..35999313,2	MCF-7	breast:

Extended variants
information (count: 4432 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:4432 , 50 per page) page: 1 2 3 4 5 6 7 ... 89

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12680114	chr8:35184361-35184362	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs552158676	chr8:35184391-35184392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs571174257	chr8:35184406-35184407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs560033515	chr8:35184407-35184408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs528767335	chr8:35184440-35184441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs547291816	chr8:35184488-35184489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs568703594	chr8:35184492-35184493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs545010605	chr8:35184498-35184499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs144414299	chr8:35184499-35184500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs569214101	chr8:35184609-35184610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs377510807	chr8:35184611-35184612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs563250072	chr8:35184634-35184635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs147813851	chr8:35184640-35184641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs540963077	chr8:35184679-35184680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs186800645	chr8:35184690-35184691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs140999570	chr8:35184702-35184703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs556988723	chr8:35184707-35184708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs189934491	chr8:35184718-35184719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs563404305	chr8:35184769-35184770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs372936309	chr8:35184779-35184780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs376321973	chr8:35184816-35184817	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs533440627	chr8:35184828-35184829	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181273812	chr8:35184857-35184858	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564098881	chr8:35184873-35184874	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs528076396	chr8:35184884-35184885	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547356318	chr8:35184886-35184887	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs149791594	chr8:35184897-35184898	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369611439	chr8:35184909-35184910	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575353868	chr8:35184918-35184919	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs550861063	chr8:35184923-35184924	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569355339	chr8:35184936-35184937	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs876115	chr8:35184937-35184938	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs145725143	chr8:35184980-35184981	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs561123195	chr8:35184992-35184993	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376164498	chr8:35185032-35185033	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7838554	chr8:35185058-35185059	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs552848945	chr8:35185082-35185083	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs148925727	chr8:35185149-35185150	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540520510	chr8:35185153-35185154	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376646691	chr8:35185154-35185155	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs67434887	chr8:35185155-35185156	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs575373267	chr8:35185195-35185196	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545954525	chr8:35185209-35185210	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs145918916	chr8:35185220-35185221	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs184948225	chr8:35185255-35185256	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540196848	chr8:35185264-35185265	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs552878356	chr8:35185292-35185293	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs2950919	chr8:35185296-35185297	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs2980377	chr8:35185321-35185322	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs117946711	chr8:35185332-35185333	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:120)

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
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:515 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:35179600-35184400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:35179600-35184400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr8:35180400-35184800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr8:35181200-35184400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr8:35182800-35186400	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr8:35182800-35188000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr8:35183000-35184400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:35183000-35186400	Enhancers	Fetal Kidney	kidney
9	chr8:35183200-35184400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr8:35183200-35185400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr8:35183200-35185600	Enhancers	H9 Cell Line	embryonic stem cell
12	chr8:35183400-35185000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:35183600-35184400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr8:35183600-35185400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr8:35183800-35185400	Enhancers	Fetal Muscle Leg	muscle
16	chr8:35183800-35185600	Enhancers	H1 Cell Line	embryonic stem cell
17	chr8:35183800-35185600	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr8:35184000-35185200	Enhancers	Fetal Muscle Trunk	muscle
19	chr8:35184000-35185400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr8:35184000-35185600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr8:35184400-35185200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr8:35184400-35185400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr8:35184400-35185400	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr8:35184400-35185600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr8:35184400-35185600	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr8:35184400-35185600	Enhancers	HSMMtube	muscle
27	chr8:35184400-35186000	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr8:35184600-35185400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr8:35184600-35185400	Enhancers	Muscle Satellite Cultured Cells	--
30	chr8:35184800-35185200	Enhancers	Placenta Amnion	Placenta Amnion
31	chr8:35184800-35185600	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr8:35184800-35185600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr8:35185000-35187400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr8:35185200-35185400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr8:35185400-35186400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr8:35185400-35187400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr8:35185400-35196200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr8:35185400-35204000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr8:35185600-35186000	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr8:35185600-35186000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr8:35185600-35187200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr8:35185600-35187400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr8:35185600-35187400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr8:35185600-35191400	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr8:35186000-35186200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr8:35186000-35187400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr8:35186000-35188200	Enhancers	H1 Cell Line	embryonic stem cell
48	chr8:35186200-35194000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr8:35186400-35187200	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr8:35186400-35188800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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