Variant report

Variant	esv3335169
Chromosome Location	chr8:91966226-91968424
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:91966394..91968978-chr8:91994771..91996720,2	K562	blood:
2	chr8:91657448..91659157-chr8:91966713..91968601,2	MCF-7	breast:
3	chr8:91963528..91965609-chr8:91967085..91969993,2	K562	blood:
4	chr8:91960706..91962552-chr8:91966343..91969048,2	K562	blood:
5	chr8:91968241..91970029-chr8:91971497..91973539,2	K562	blood:

Variant related genes	Relation type
ENSG00000180694	chromatin interactions
ENSG00000246792	chromatin interactions

Extended variants
information (count: 66 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188067414	chr8:91966266-91966267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs559574717	chr8:91966268-91966269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181310007	chr8:91966283-91966284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs574648828	chr8:91966296-91966297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs535552150	chr8:91966300-91966301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs148047479	chr8:91966303-91966304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553856334	chr8:91966304-91966305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs572167817	chr8:91966307-91966308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540423150	chr8:91966320-91966321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs66472349	chr8:91966341-91966342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs60959508	chr8:91966344-91966345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560653323	chr8:91966468-91966469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs569723447	chr8:91966485-91966486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541012771	chr8:91966509-91966510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs537242598	chr8:91966522-91966523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550255128	chr8:91966530-91966531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs377720843	chr8:91966552-91966553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs77845013	chr8:91966595-91966596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs138958844	chr8:91966716-91966717	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs540043407	chr8:91966721-91966722	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs80202111	chr8:91966726-91966727	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs529048511	chr8:91966749-91966750	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs536513586	chr8:91966867-91966868	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs555268824	chr8:91966951-91966952	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs12544902	chr8:91966956-91966957	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs576513471	chr8:91966974-91966975	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs543619426	chr8:91966977-91966978	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs141530017	chr8:91967078-91967079	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs112954373	chr8:91967081-91967082	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs545849992	chr8:91967131-91967132	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs576577809	chr8:91967142-91967143	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs374950533	chr8:91967153-91967154	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs563905228	chr8:91967183-91967184	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs576697081	chr8:91967184-91967185	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs35603988	chr8:91967233-91967234	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs370345131	chr8:91967290-91967291	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs540607763	chr8:91967291-91967292	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs561639447	chr8:91967292-91967293	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs562319453	chr8:91967341-91967342	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs59244524	chr8:91967366-91967367	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs529714700	chr8:91967556-91967557	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs183963887	chr8:91967586-91967587	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs563606313	chr8:91967600-91967601	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs190185354	chr8:91967605-91967606	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs181617760	chr8:91967643-91967644	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs2677572	chr8:91967658-91967659	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs374687226	chr8:91967743-91967744	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs539172280	chr8:91967754-91967755	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs370111935	chr8:91967760-91967761	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs147047632	chr8:91967799-91967800	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:107)

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
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
Breast cancer	20409316	CNVD
Acute myeloid leukemia	19651601	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Breast cancer	21611746	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91951800-91986400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr8:91953200-91967000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr8:91953400-91967000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr8:91953400-91972000	Weak transcription	NHDF-Ad	bronchial
5	chr8:91953400-91981400	Weak transcription	HSMM	muscle
6	chr8:91953400-91984600	Weak transcription	NH-A	brain
7	chr8:91953600-91966600	Weak transcription	Right Ventricle	heart
8	chr8:91953600-91970000	Weak transcription	Brain Anterior Caudate	brain
9	chr8:91953600-91974800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr8:91953600-91976000	Weak transcription	Brain Substantia Nigra	brain
11	chr8:91953600-91977600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr8:91954000-91970600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr8:91954000-91974400	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr8:91955000-91974800	Weak transcription	Fetal Muscle Leg	muscle
15	chr8:91955600-91972000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr8:91955600-91975000	Weak transcription	Adipose Nuclei	Adipose
17	chr8:91955800-91972000	Weak transcription	Fetal Lung	lung
18	chr8:91956400-91968000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr8:91956600-91974400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr8:91957200-91976200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr8:91957400-91974400	Weak transcription	Primary hematopoietic stem cells	blood
22	chr8:91958000-91976200	Weak transcription	K562	blood
23	chr8:91958200-91996000	Weak transcription	Fetal Stomach	stomach
24	chr8:91958800-91972000	Weak transcription	Brain Angular Gyrus	brain
25	chr8:91959200-91969800	Weak transcription	Aorta	Aorta
26	chr8:91959200-91974600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr8:91960600-91966400	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr8:91960600-91974800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr8:91960600-91975200	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr8:91960600-91976000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr8:91960800-91972000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr8:91961200-91972200	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr8:91961200-91975400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr8:91961200-91976000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr8:91961600-91975000	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr8:91963000-91975000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr8:91963600-91975800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr8:91963600-91979000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr8:91964600-91972000	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr8:91964600-91989800	Weak transcription	Left Ventricle	heart
41	chr8:91964800-91996600	Weak transcription	Ovary	ovary
42	chr8:91965600-91979200	Weak transcription	Stomach Smooth Muscle	stomach
43	chr8:91966200-91974800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr8:91966200-91976200	Weak transcription	Colon Smooth Muscle	Colon

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