Variant report

Variant	esv3372841
Chromosome Location	chr10:95544312-95547610
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	chr10:95538097..95540251-chr10:95543873..95546365,2	K562	blood:

Extended variants
information (count: 121 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:121 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558727975	chr10:95544340-95544341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs79819100	chr10:95544364-95544365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142024924	chr10:95544493-95544494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs191711416	chr10:95544514-95544515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs574403052	chr10:95544517-95544518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs543047575	chr10:95544534-95544535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs10736081	chr10:95544550-95544551	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs532256282	chr10:95544563-95544564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs184305576	chr10:95544601-95544602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552256680	chr10:95544619-95544620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559484929	chr10:95544621-95544622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs150862177	chr10:95544626-95544627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs12245206	chr10:95544641-95544642	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs568258875	chr10:95544645-95544646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs536689213	chr10:95544727-95544728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549770161	chr10:95544731-95544732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs114747519	chr10:95544785-95544786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541074311	chr10:95544800-95544801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538768575	chr10:95544832-95544833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs558591773	chr10:95544855-95544856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs148683291	chr10:95544856-95544857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566297575	chr10:95544857-95544858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563156551	chr10:95544859-95544860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534884535	chr10:95544864-95544865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs367665745	chr10:95544867-95544868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs139146221	chr10:95544918-95544919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187238242	chr10:95544935-95544936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs149932231	chr10:95545044-95545045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs74958224	chr10:95545150-95545151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112296134	chr10:95545153-95545154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs74150346	chr10:95545200-95545201	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs7082936	chr10:95545227-95545228	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs559478804	chr10:95545228-95545229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs528332956	chr10:95545234-95545235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs541647243	chr10:95545257-95545258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs192052539	chr10:95545263-95545264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs533097986	chr10:95545343-95545344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs550431652	chr10:95545377-95545378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs7099034	chr10:95545378-95545379	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs79625400	chr10:95545462-95545463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs201975225	chr10:95545478-95545479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs199855767	chr10:95545480-95545481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs57939561	chr10:95545505-95545506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs144101819	chr10:95545513-95545514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs56086622	chr10:95545540-95545541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs190225952	chr10:95545644-95545645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs7069172	chr10:95545723-95545724	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs537764692	chr10:95545740-95545741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs7068948	chr10:95545784-95545785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs576950678	chr10:95545808-95545809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Lung cancer	18438408	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Usher syndrome	20538994	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Paraganglioma	17535989	CNVD
Submicroscopic aberration syndrome	21292638	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Pulmonary chondroma	17535989	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Colorectal cancer	18645599	CNVD
Polyposis syndrome	18645599	CNVD
Prostate cancer	17245344	CNVD
Glioblastoma multiforme	17369134	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	22032731	CNVD
Ovarian cancer	20844748	CNVD
Glioblastoma multiforme	17002787	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21364760	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Wilms tumour	21544195	CNVD
small cell lung cancer	20016488	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Cervical cancer	21062161	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	24453001	CNVD
Breast cancer	16608533	CNVD
Sezary syndrome	18413736	CNVD
Intracranial aneurysm	16715129	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:95528600-95559600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr10:95530000-95554800	Weak transcription	Brain Hippocampus Middle	brain
3	chr10:95530400-95549400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr10:95530600-95558000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr10:95535000-95554600	Weak transcription	Brain Anterior Caudate	brain
6	chr10:95537000-95546600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr10:95539600-95550000	Weak transcription	Fetal Stomach	stomach
8	chr10:95540400-95547000	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr10:95544400-95544600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr10:95544600-95545400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr10:95545200-95545400	Enhancers	HSMMtube	muscle
12	chr10:95545200-95546800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr10:95545400-95546000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr10:95545600-95547600	Weak transcription	HSMMtube	muscle
15	chr10:95546000-95549000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr10:95546600-95547000	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr10:95546600-95547200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr10:95546800-95547000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr10:95546800-95547000	Enhancers	Brain Cingulate Gyrus	brain
20	chr10:95546800-95552400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr10:95547000-95547200	Enhancers	Brain Substantia Nigra	brain
22	chr10:95547000-95547400	Bivalent Enhancer	Fetal Muscle Leg	muscle
23	chr10:95547000-95547800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr10:95547000-95548000	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr10:95547000-95548200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr10:95547000-95555200	Weak transcription	Brain Cingulate Gyrus	brain
27	chr10:95547200-95547400	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr10:95547200-95547600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr10:95547200-95547800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr10:95547400-95550200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr10:95547600-95548400	Enhancers	HSMMtube	muscle
32	chr10:95547600-95550000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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