Variant report

Variant	nsv551870
Chromosome Location	chr10:90945022-90964395
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	chr10:90807595..90810361-chr10:90944518..90946449,2	MCF-7	breast:

Extended variants
information (count: 354 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:354 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530150373	chr10:90945024-90945025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs542282050	chr10:90945037-90945038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs35064463	chr10:90945076-90945077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs563537305	chr10:90945108-90945109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs188302083	chr10:90945167-90945168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs552281797	chr10:90945181-90945182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs570462118	chr10:90945206-90945207	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs140282114	chr10:90945212-90945213	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546425162	chr10:90945279-90945280	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs150357904	chr10:90945349-90945350	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs77230444	chr10:90945359-90945360	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368183151	chr10:90945396-90945397	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs556975457	chr10:90945442-90945443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs76937316	chr10:90945465-90945466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs578046583	chr10:90945513-90945514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs138866060	chr10:90945516-90945517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs140634288	chr10:90945523-90945524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs145701301	chr10:90945531-90945532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs562595776	chr10:90945535-90945536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs553625759	chr10:90945558-90945559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs574929803	chr10:90945585-90945586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs541968862	chr10:90945629-90945630	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs563846836	chr10:90945647-90945648	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs138172622	chr10:90945660-90945661	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs35184961	chr10:90945681-90945682	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs149568572	chr10:90945705-90945706	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs372859199	chr10:90945706-90945707	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs116209171	chr10:90945751-90945752	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs10509567	chr10:90945756-90945757	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs546441335	chr10:90945776-90945777	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs545721820	chr10:90945777-90945778	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs561552660	chr10:90945789-90945790	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs10788637	chr10:90945808-90945809	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs550496232	chr10:90945814-90945815	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs547058800	chr10:90945844-90945845	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs10887928	chr10:90945861-90945862	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs114689766	chr10:90945882-90945883	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs566446478	chr10:90945899-90945900	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs144372670	chr10:90945944-90945945	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs115359985	chr10:90945998-90945999	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs148385263	chr10:90946032-90946033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs182231030	chr10:90946043-90946044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs536095352	chr10:90946101-90946102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs141509625	chr10:90946102-90946103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs187270280	chr10:90946209-90946210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs545860698	chr10:90946229-90946230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs564141320	chr10:90946277-90946278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs572859019	chr10:90946314-90946315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs147522393	chr10:90946365-90946366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs191724897	chr10:90946368-90946369	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21364760	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Wilms tumour	21544195	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Colorectal cancer	19359472	CNVD
Neurocytoma	17123091	CNVD
Prostate cancer	16461572	CNVD
Basal-like breast cancer	18066063	CNVD
Effusion lymphoma	18079361	CNVD
Lung cancer	21911935	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	22048815	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Glioblastoma multiforme	22286061	CNVD
Intracranial ependymoma	16609018	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
Chronic lymphocytic leukemia	20421269	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:90943800-90945400	Weak transcription	NHLF	lung
2	chr10:90944000-90945200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr10:90944400-90949400	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr10:90945200-90945800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr10:90945200-90946000	Enhancers	Stomach Smooth Muscle	stomach
6	chr10:90945400-90945600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr10:90945400-90945800	Enhancers	Duodenum Smooth Muscle	Duodenum
8	chr10:90945400-90945800	Enhancers	Hela-S3	cervix
9	chr10:90945400-90946600	Enhancers	Fetal Lung	lung
10	chr10:90945600-90945800	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr10:90945600-90945800	Enhancers	NHLF	lung
12	chr10:90945600-90946000	Enhancers	Colon Smooth Muscle	Colon
13	chr10:90945600-90946000	Bivalent Enhancer	Stomach Mucosa	stomach
14	chr10:90946200-90947200	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr10:90946400-90946800	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr10:90946400-90947000	Enhancers	H1 Cell Line	embryonic stem cell
17	chr10:90946400-90947000	Enhancers	H9 Cell Line	embryonic stem cell
18	chr10:90955200-90956000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr10:90960800-90962200	Enhancers	NHEK	skin
20	chr10:90961000-90961600	Enhancers	NHDF-Ad	bronchial
21	chr10:90961000-90961800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr10:90961000-90962200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr10:90961000-90962200	Enhancers	NHLF	lung
24	chr10:90961200-90961600	Enhancers	A549	lung
25	chr10:90961200-90962200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr10:90961400-90962000	Enhancers	Fetal Stomach	stomach
27	chr10:90961400-90962200	Enhancers	HMEC	breast
28	chr10:90961400-90962400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr10:90961600-90961800	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr10:90961600-90962200	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr10:90961600-90962400	Enhancers	Esophagus	oesophagus
32	chr10:90961600-90963000	Weak transcription	NHDF-Ad	bronchial
33	chr10:90961800-90963000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr10:90962200-90963200	Weak transcription	NHLF	lung
35	chr10:90962400-90963400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr10:90962400-90966200	Weak transcription	Esophagus	oesophagus
37	chr10:90962800-90963000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr10:90963000-90963200	Enhancers	NHDF-Ad	bronchial
39	chr10:90963000-90963600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr10:90963000-90964000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr10:90963200-90963800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr10:90963200-90963800	Enhancers	NHLF	lung
43	chr10:90963400-90963600	Bivalent/Poised TSS	NHDF-Ad	bronchial
44	chr10:90963400-90963800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr10:90963400-90963800	Bivalent Enhancer	Fetal Thymus	thymus
46	chr10:90963400-90964000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr10:90963600-90963800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
48	chr10:90963600-90963800	Bivalent Enhancer	Aorta	Aorta
49	chr10:90963800-90964000	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr10:90963800-90964000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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