Variant report

Variant	nsv825515
Chromosome Location	chr10:94163680-94165200
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555762003	chr10:94163700-94163701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs188235971	chr10:94163737-94163738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs371483197	chr10:94163769-94163770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571160825	chr10:94163855-94163856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs180938421	chr10:94163888-94163889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs56403611	chr10:94163938-94163939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553504820	chr10:94163939-94163940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs77083220	chr10:94163961-94163962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186411788	chr10:94163965-94163966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs535516951	chr10:94163983-94163984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs36024995	chr10:94164008-94164009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555483297	chr10:94164125-94164126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575211327	chr10:94164140-94164141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs544231523	chr10:94164150-94164151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572027722	chr10:94164201-94164202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs554733413	chr10:94164207-94164208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs191206917	chr10:94164247-94164248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs183498353	chr10:94164257-94164258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs559455147	chr10:94164266-94164267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs528333581	chr10:94164305-94164306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs541940175	chr10:94164307-94164308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs79103333	chr10:94164309-94164310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs530504859	chr10:94164310-94164311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs142597170	chr10:94164383-94164384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs186720316	chr10:94164400-94164401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs533628204	chr10:94164418-94164419	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs145996292	chr10:94164431-94164432	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs566714963	chr10:94164440-94164441	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs138367106	chr10:94164489-94164490	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs10882057	chr10:94164513-94164514	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs557439371	chr10:94164530-94164531	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs10882058	chr10:94164664-94164665	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs190686226	chr10:94164672-94164673	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543105333	chr10:94164676-94164677	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs149588650	chr10:94164695-94164696	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs529252337	chr10:94164701-94164702	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539708558	chr10:94164804-94164805	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs144266572	chr10:94164842-94164843	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs563178712	chr10:94164888-94164889	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs79028396	chr10:94164940-94164941	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs80227612	chr10:94164947-94164948	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs575385763	chr10:94164951-94164952	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs183164767	chr10:94164975-94164976	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs2260311	chr10:94164980-94164981	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs572724825	chr10:94165007-94165008	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs547269662	chr10:94165012-94165013	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560447158	chr10:94165062-94165063	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs529557029	chr10:94165125-94165126	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs533802112	chr10:94165142-94165143	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Chronic lymphocytic leukemia	20421269	CNVD
Myelofibrosis	22110671	CNVD
Sezary syndrome	18413736	CNVD
Intracranial aneurysm	16715129	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:94162600-94164200	Weak transcription	K562	blood
2	chr10:94164200-94164400	Enhancers	K562	blood
3	chr10:94164400-94164800	Weak transcription	K562	blood
4	chr10:94164400-94165200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
5	chr10:94164400-94165600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr10:94164400-94165600	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr10:94164600-94165200	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr10:94164600-94165400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr10:94164800-94165000	Enhancers	K562	blood
10	chr10:94164800-94165200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr10:94164800-94165200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr10:94164800-94165200	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr10:94164800-94165400	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr10:94165000-94165400	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr10:94165000-94165600	Enhancers	GM12878-XiMat	blood
16	chr10:94165000-94166800	Weak transcription	K562	blood
17	chr10:94165200-94165400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr10:94165200-94165400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr10:94165200-94165400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
20	chr10:94165200-94165600	Enhancers	H1 Cell Line	embryonic stem cell
21	chr10:94165200-94165600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr10:94165200-94165600	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr10:94165200-94165600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr10:94165200-94165600	Bivalent/Poised TSS	HepG2	liver
25	chr10:94165200-94170400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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