Variant report

Variant	nsv540567
Chromosome Location	chr10:38666856-38676001
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	chr10:38673060..38675931-chr10:38690286..38692988,2	K562	blood:

Variant related genes	Relation type
ENSG00000120555	chromatin interactions

Extended variants
information (count: 316 )
Associated
traits (count: 39 )

Variant overlapped rSNPs/rCNVs (count:316 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533554487	chr10:38666868-38666869	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs540373858	chr10:38666884-38666885	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560241825	chr10:38666895-38666896	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs2997758	chr10:38666896-38666897	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568588942	chr10:38666916-38666917	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537733234	chr10:38666932-38666933	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs528908244	chr10:38666958-38666959	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548670205	chr10:38666976-38666977	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569156594	chr10:38666991-38666992	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs2804622	chr10:38667003-38667004	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs551638136	chr10:38667066-38667067	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs571149853	chr10:38667067-38667068	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577486479	chr10:38667157-38667158	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533735527	chr10:38667177-38667178	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs553055603	chr10:38667209-38667210	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538997200	chr10:38667224-38667225	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs552556317	chr10:38667269-38667270	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs369212456	chr10:38667286-38667287	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs10827867	chr10:38667316-38667317	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs535862795	chr10:38667329-38667330	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs185357025	chr10:38667413-38667414	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575579113	chr10:38667416-38667417	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541573989	chr10:38667424-38667425	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs2983953	chr10:38667458-38667459	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs373219461	chr10:38667487-38667488	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs538194646	chr10:38667495-38667496	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558484148	chr10:38667505-38667506	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs578219017	chr10:38667512-38667513	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190255375	chr10:38667520-38667521	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560306874	chr10:38667541-38667542	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs370338007	chr10:38667558-38667559	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561901159	chr10:38667559-38667560	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs573628822	chr10:38667584-38667585	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542688888	chr10:38667596-38667597	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575384949	chr10:38667603-38667604	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181508279	chr10:38667672-38667673	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531328502	chr10:38667681-38667682	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551433591	chr10:38667726-38667727	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564792376	chr10:38667730-38667731	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs564197747	chr10:38667737-38667738	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs527496753	chr10:38667738-38667739	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184246524	chr10:38667764-38667765	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs532985183	chr10:38667773-38667774	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188576715	chr10:38667792-38667793	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs2800483	chr10:38667826-38667827	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs2983956	chr10:38667865-38667866	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs372211269	chr10:38667905-38667906	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs569199453	chr10:38667908-38667909	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538190325	chr10:38667955-38667956	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs2996600	chr10:38667999-38668000	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:39)

Disease	PMID	Source
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Lung cancer	21569311	CNVD
Colorectal cancer	20459617	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Central neurocytomas	17123091	CNVD
Neurocytoma	17123091	CNVD
small cell lung cancer	20016488	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:38645800-38669000	Weak transcription	Colon Smooth Muscle	Colon
2	chr10:38646000-38670600	Weak transcription	Fetal Stomach	stomach
3	chr10:38646200-38667000	Weak transcription	Fetal Intestine Small	intestine
4	chr10:38646200-38669200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr10:38646200-38669200	Weak transcription	Right Ventricle	heart
6	chr10:38648200-38668600	Weak transcription	HUVEC	blood vessel
7	chr10:38655400-38669000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr10:38656000-38668600	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr10:38656200-38669200	Weak transcription	Primary B cells from cord blood	blood
10	chr10:38656400-38668800	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr10:38656400-38670000	Weak transcription	Fetal Lung	lung
12	chr10:38656600-38670600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr10:38657600-38668600	Weak transcription	Fetal Thymus	thymus
14	chr10:38658200-38668400	Weak transcription	Placenta	Placenta
15	chr10:38660600-38667000	Weak transcription	Lung	lung
16	chr10:38660600-38667800	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr10:38660600-38668600	Weak transcription	Brain Anterior Caudate	brain
18	chr10:38660600-38669000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr10:38660600-38669000	Weak transcription	Fetal Muscle Trunk	muscle
20	chr10:38660600-38669000	Weak transcription	Spleen	Spleen
21	chr10:38660600-38670400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr10:38660600-38670600	Weak transcription	Stomach Smooth Muscle	stomach
23	chr10:38660600-38671600	Weak transcription	HepG2	liver
24	chr10:38660800-38667200	Weak transcription	Primary T cells from cord blood	blood
25	chr10:38661000-38667800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr10:38661000-38668000	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr10:38661000-38668000	Weak transcription	HSMMtube	muscle
28	chr10:38661000-38668200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr10:38661000-38668200	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr10:38661000-38668600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr10:38661000-38668800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr10:38661000-38668800	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr10:38661000-38668800	Weak transcription	Fetal Brain Female	brain
34	chr10:38661000-38669000	Weak transcription	Fetal Intestine Large	intestine
35	chr10:38661000-38669400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr10:38661000-38669400	Weak transcription	Fetal Muscle Leg	muscle
37	chr10:38661000-38669800	Weak transcription	Primary B cells from peripheral blood	blood
38	chr10:38661000-38670200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr10:38661000-38670200	Weak transcription	Brain Cingulate Gyrus	brain
40	chr10:38661000-38670200	Weak transcription	Pancreas	Pancrea
41	chr10:38661000-38670600	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr10:38661000-38670600	Weak transcription	Esophagus	oesophagus
43	chr10:38661000-38670800	Weak transcription	Left Ventricle	heart
44	chr10:38661000-38683400	Weak transcription	Brain Substantia Nigra	brain
45	chr10:38661200-38667800	Weak transcription	Adipose Nuclei	Adipose
46	chr10:38661200-38669000	Weak transcription	Duodenum Mucosa	Duodenum
47	chr10:38661200-38670400	Weak transcription	Primary hematopoietic stem cells	blood
48	chr10:38661200-38670800	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr10:38661200-38680400	Weak transcription	GM12878-XiMat	blood
50	chr10:38661400-38667000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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