Variant report

Variant	nsv895374
Chromosome Location	chr10:49969556-49990081
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:49972674..49975169-chr10:50017821..50020027,2	MCF-7	breast:
2	chr10:49986976..49988548-chr10:50000055..50002559,2	MCF-7	breast:
3	chr10:49973164..49974775-chr10:49975647..49977758,2	K562	blood:
4	chr10:49973164..49974775-chr10:49975647..49977758,2	K562	blood:

Extended variants
information (count: 902 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:902 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17836431	chr10:49969556-49969557	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs549522596	chr10:49969568-49969569	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs561793618	chr10:49969573-49969574	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs529012296	chr10:49969632-49969633	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs548784693	chr10:49969646-49969647	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs567097224	chr10:49969663-49969664	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs534490507	chr10:49969716-49969717	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs73308057	chr10:49969717-49969718	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs571064049	chr10:49969720-49969721	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs538190432	chr10:49969806-49969807	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs377634756	chr10:49969860-49969861	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs556307098	chr10:49969936-49969937	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs192242500	chr10:49969942-49969943	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs11101461	chr10:49969986-49969987	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs553577249	chr10:49970020-49970021	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs138932706	chr10:49970023-49970024	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs571959689	chr10:49970024-49970025	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs545686437	chr10:49970028-49970029	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs149413121	chr10:49970043-49970044	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs576262793	chr10:49970082-49970083	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs543369810	chr10:49970116-49970117	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs549466413	chr10:49970139-49970140	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs73308058	chr10:49970143-49970144	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs578122155	chr10:49970155-49970156	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs569294039	chr10:49970210-49970211	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs2620902	chr10:49970226-49970227	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs78430620	chr10:49970242-49970243	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs371077489	chr10:49970249-49970250	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs552498645	chr10:49970278-49970279	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs571096087	chr10:49970290-49970291	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs538172933	chr10:49970313-49970314	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs144780034	chr10:49970364-49970365	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs544756899	chr10:49970376-49970377	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs564578545	chr10:49970398-49970399	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs535550974	chr10:49970400-49970401	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs369743375	chr10:49970403-49970404	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs139247059	chr10:49970413-49970414	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs565849035	chr10:49970525-49970526	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs538335692	chr10:49970537-49970538	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs557682262	chr10:49970538-49970539	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs533135236	chr10:49970630-49970631	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs546834042	chr10:49970668-49970669	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs182994134	chr10:49970686-49970687	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs188742735	chr10:49970692-49970693	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs192691277	chr10:49970718-49970719	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs73308059	chr10:49970721-49970722	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs184180979	chr10:49970723-49970724	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs541036902	chr10:49970749-49970750	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs188996815	chr10:49970774-49970775	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs2683609	chr10:49970809-49970810	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
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
Thoracic aortic aneurysm	21092924	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
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	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
Chronic lymphocytic leukemia	21546498	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Renal cell carcinoma	18765545	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Breast cancer	21785460	CNVD
Intellectual disability	21948486	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Rett syndrome	21593744	CNVD
Glioblastoma multiforme	22286061	CNVD
Neuroblastoma	21899760	CNVD
Intellectual disability	22045946	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Autism	21948486	CNVD
cleft palate	21948486	CNVD
Encephalopathy	21948486	CNVD
Lung cancer	18438408	CNVD
T-cell primary immunodeficiency	21948486	CNVD
Autism	22543975	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
skeletal anomalies	21948486	CNVD
speech delay	21948486	CNVD
Breast cancer	22522925	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49962400-49980600	Strong transcription	Primary B cells from cord blood	blood
2	chr10:49967400-49971200	Strong transcription	Primary hematopoietic stem cells	blood
3	chr10:49967600-49977800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr10:49967600-50000000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr10:49967800-49978200	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr10:49967800-49979000	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr10:49967800-50006800	Strong transcription	Primary B cells from peripheral blood	blood
8	chr10:49968000-49971400	Strong transcription	Spleen	Spleen
9	chr10:49968000-49974200	Weak transcription	Lung	lung
10	chr10:49968000-49977200	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr10:49968200-49972000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr10:49968400-49971800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr10:49968600-49978600	Weak transcription	Adipose Nuclei	Adipose
14	chr10:49969000-49971800	Strong transcription	GM12878-XiMat	blood
15	chr10:49969200-49973800	Enhancers	Brain Germinal Matrix	brain
16	chr10:49969400-49989800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr10:49970000-49970600	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr10:49970200-49970600	Enhancers	Aorta	Aorta
19	chr10:49970400-49970800	Enhancers	Left Ventricle	heart
20	chr10:49970800-49971400	Enhancers	Fetal Stomach	stomach
21	chr10:49971200-49977200	Weak transcription	Primary hematopoietic stem cells	blood
22	chr10:49971400-49976800	Weak transcription	Fetal Stomach	stomach
23	chr10:49971400-49982600	Weak transcription	Spleen	Spleen
24	chr10:49971800-49974400	Genic enhancers	GM12878-XiMat	blood
25	chr10:49971800-49975600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr10:49972000-49974000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr10:49974000-49975200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr10:49974400-49976400	Strong transcription	GM12878-XiMat	blood
29	chr10:49975200-49982400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr10:49975600-49976400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr10:49976200-49976400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr10:49976400-49976800	Weak transcription	GM12878-XiMat	blood
33	chr10:49976400-49977000	Enhancers	Fetal Brain Male	brain
34	chr10:49976400-49977200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr10:49976400-49981200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr10:49976800-49977000	Enhancers	Fetal Stomach	stomach
37	chr10:49976800-49980000	Strong transcription	GM12878-XiMat	blood
38	chr10:49977000-49979000	Weak transcription	Fetal Stomach	stomach
39	chr10:49977000-49990400	Weak transcription	Fetal Brain Male	brain
40	chr10:49977200-49977400	Enhancers	Fetal Thymus	thymus
41	chr10:49977200-49978000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr10:49977200-49978200	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr10:49977200-49978200	Strong transcription	Primary hematopoietic stem cells	blood
44	chr10:49977200-49978400	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr10:49977400-49979400	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr10:49977400-49981200	Weak transcription	Fetal Thymus	thymus
47	chr10:49977800-49978200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr10:49977800-49979600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr10:49977800-49980200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr10:49978200-49979400	Weak transcription	Primary hematopoietic stem cells	blood

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