Variant report

Variant	nsv7493
Chromosome Location	chr10:94794288-94802037
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:94723988..94724612-chr10:94799290..94799859,2	K562	blood:
2	chr10:94766312..94766847-chr10:94799203..94799762,2	MCF-7	breast:
3	chr10:94644359..94645676-chr10:94799255..94800206,4	MCF-7	breast:
4	chr10:94725088..94725800-chr10:94799198..94800112,2	MCF-7	breast:
5	chr10:94795209..94797175-chr10:94807636..94809235,2	MCF-7	breast:
6	chr10:94796627..94798981-chr10:94805341..94807153,2	MCF-7	breast:
7	chr10:94792299..94795062-chr10:94819339..94821286,2	K562	blood:
8	chr10:94652774..94654911-chr10:94796709..94799688,2	MCF-7	breast:
9	chr10:94765927..94766846-chr10:94799511..94800173,4	MCF-7	breast:
10	chr10:94765953..94766479-chr10:94799175..94800116,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000187553	chromatin interactions
ENSG00000226425	chromatin interactions

Extended variants
information (count: 269 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:269 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201150202	chr10:94794296-94794297	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs11187247	chr10:94794319-94794320	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs574958754	chr10:94794397-94794398	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs149941965	chr10:94794438-94794439	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs577316272	chr10:94794480-94794481	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs577758570	chr10:94794504-94794505	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs540456812	chr10:94794544-94794545	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs145089758	chr10:94794617-94794618	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs529210153	chr10:94794635-94794636	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs542211821	chr10:94794725-94794726	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs117986427	chr10:94794729-94794730	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs530981209	chr10:94794731-94794732	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs11187248	chr10:94794735-94794736	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs11187249	chr10:94794788-94794789	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs533344632	chr10:94794828-94794829	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs547197182	chr10:94794845-94794846	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs34673625	chr10:94794884-94794885	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs187075604	chr10:94794940-94794941	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs192852203	chr10:94794949-94794950	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs562117502	chr10:94794965-94794966	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs138534844	chr10:94794983-94794984	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs185204433	chr10:94795038-94795039	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs537494646	chr10:94795062-94795063	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs140273173	chr10:94795063-94795064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs80136219	chr10:94795090-94795091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs540026761	chr10:94795091-94795092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs75296922	chr10:94795104-94795105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs562855332	chr10:94795131-94795132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs80330302	chr10:94795140-94795141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs372754193	chr10:94795151-94795152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs562821358	chr10:94795182-94795183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs530921649	chr10:94795222-94795223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs190137584	chr10:94795247-94795248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs570481467	chr10:94795280-94795281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs564399030	chr10:94795291-94795292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs533486694	chr10:94795295-94795296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs193246807	chr10:94795313-94795314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs185091109	chr10:94795338-94795339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs188090999	chr10:94795386-94795387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs368939113	chr10:94795428-94795429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs549263001	chr10:94795440-94795441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs531800853	chr10:94795499-94795500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs180906365	chr10:94795604-94795605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs184020813	chr10:94795612-94795613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs376001558	chr10:94795626-94795627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs12269377	chr10:94795627-94795628	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs533898681	chr10:94795632-94795633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs548369759	chr10:94795686-94795687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs7068500	chr10:94795705-94795706	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs377476373	chr10:94795730-94795731	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:94713200-94819400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr10:94750800-94794600	Weak transcription	Small Intestine	intestine
3	chr10:94773400-94800000	Weak transcription	Lung	lung
4	chr10:94775400-94812800	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr10:94780600-94801400	Weak transcription	Brain Anterior Caudate	brain
6	chr10:94781400-94807600	Weak transcription	Psoas Muscle	Psoas
7	chr10:94783400-94802800	Weak transcription	Stomach Smooth Muscle	stomach
8	chr10:94785200-94819000	Weak transcription	Thymus	Thymus
9	chr10:94786200-94799200	Weak transcription	Primary B cells from peripheral blood	blood
10	chr10:94786400-94809200	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr10:94787200-94817600	Weak transcription	Dnd41	blood
12	chr10:94787400-94799400	Weak transcription	Primary T cells from cord blood	blood
13	chr10:94787600-94799400	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr10:94787800-94799200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr10:94787800-94802000	Weak transcription	Primary B cells from cord blood	blood
16	chr10:94787800-94814000	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr10:94788000-94799400	Weak transcription	Primary hematopoietic stem cells	blood
18	chr10:94788000-94819000	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr10:94788000-94819400	Weak transcription	Left Ventricle	heart
20	chr10:94788200-94799200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr10:94788400-94803400	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr10:94788400-94811000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr10:94788400-94815800	Weak transcription	Fetal Muscle Leg	muscle
24	chr10:94788800-94799200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr10:94790200-94797600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr10:94790800-94799200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr10:94790800-94813800	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr10:94791000-94794600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr10:94791000-94799200	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr10:94791200-94798600	Weak transcription	Osteobl	bone
31	chr10:94792000-94794400	Enhancers	A549	lung
32	chr10:94792000-94795000	Enhancers	Rectal Smooth Muscle	rectum
33	chr10:94792400-94795400	Enhancers	Fetal Intestine Large	intestine
34	chr10:94792600-94794400	Enhancers	Liver	Liver
35	chr10:94792600-94795600	Enhancers	Fetal Intestine Small	intestine
36	chr10:94792600-94819600	Weak transcription	Aorta	Aorta
37	chr10:94792600-94819800	Weak transcription	HSMMtube	muscle
38	chr10:94793000-94795000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr10:94793000-94799000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr10:94793000-94799000	Weak transcription	NHDF-Ad	bronchial
41	chr10:94793000-94801600	Weak transcription	HUVEC	blood vessel
42	chr10:94793200-94811200	Weak transcription	HepG2	liver
43	chr10:94793400-94794600	Enhancers	Fetal Heart	heart
44	chr10:94793400-94795400	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr10:94793400-94799200	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr10:94793600-94794400	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr10:94793600-94795000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr10:94793600-94798800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr10:94793800-94795000	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr10:94793800-94795800	Enhancers	Rectal Mucosa Donor 31	rectum

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