Variant report

Variant	nsv1054744
Chromosome Location	chr10:55379719-55456587
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	chr10:55405153..55407581-chr5:63345532..63348450,2	MCF-7	breast:

Extended variants
information (count: 1958 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:1958 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559009462	chr10:55379743-55379744	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs562723479	chr10:55379841-55379842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs60993664	chr10:55379852-55379853	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs542502553	chr10:55379855-55379856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs562195908	chr10:55379875-55379876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs189100435	chr10:55379906-55379907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs571655537	chr10:55379969-55379970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs199607088	chr10:55379977-55379978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs202240551	chr10:55379978-55379979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs540904679	chr10:55379979-55379980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs398054354	chr10:55379985-55379986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs398013483	chr10:55379986-55379987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs35219027	chr10:55380007-55380008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs147881716	chr10:55380024-55380025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs533037644	chr10:55380092-55380093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs371094579	chr10:55380107-55380108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs549936935	chr10:55380133-55380134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs200689624	chr10:55380155-55380156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs9416283	chr10:55380159-55380160	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs527517670	chr10:55380162-55380163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs9416284	chr10:55380198-55380199	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs549165870	chr10:55380201-55380202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs11003714	chr10:55380206-55380207	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs79150617	chr10:55380209-55380210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs192155511	chr10:55380213-55380214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs371336486	chr10:55380245-55380246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs184679769	chr10:55380278-55380279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs539532925	chr10:55380287-55380288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs556281317	chr10:55380288-55380289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs576129022	chr10:55380348-55380349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs540820067	chr10:55380368-55380369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs11003715	chr10:55380381-55380382	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs572620411	chr10:55380394-55380395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs374109019	chr10:55380492-55380493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs564055889	chr10:55380509-55380510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs532997409	chr10:55380546-55380547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560697936	chr10:55380568-55380569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs563327238	chr10:55380603-55380604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs368056752	chr10:55380638-55380639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs35397491	chr10:55380645-55380646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548871493	chr10:55380651-55380652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs374929197	chr10:55380653-55380654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs187130997	chr10:55380719-55380720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs543299051	chr10:55380886-55380887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs75348362	chr10:55380926-55380927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs534594423	chr10:55380942-55380943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs551690589	chr10:55380943-55380944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570504937	chr10:55380954-55380955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs539497845	chr10:55380983-55380984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs141578192	chr10:55381002-55381003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
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
Obesity	21956041	CNVD
Developmental delay	21948486	CNVD
Intellectual disability	21948486	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16272173	CNVD
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD
Mental retardation	17124404	CNVD
Epilepsy	20923578	CNVD
Prostate cancer	16573809	CNVD
Schizophrenia	19329560	CNVD
Heart failure	18772530	CNVD
Heart failure	18854381	CNVD
Hyperglycemia	19060297	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Glioblastoma multiforme	22286061	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Usher syndrome	20538994	CNVD
Glioblastoma multiforme	17002787	CNVD
Colorectal cancer	16774939	CNVD
Autism	20858243	CNVD
Melanoma	17363583	CNVD
Breast cancer	22522925	CNVD
Usher type I cohort	17277737	CNVD
Usher type I cohort	21436283	CNVD
Leukemia	21357790	CNVD
Medulloblastoma	22832581	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:55371600-55381800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr10:55379200-55379800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr10:55379200-55380200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr10:55379400-55379800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
5	chr10:55379400-55379800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr10:55379400-55379800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr10:55379400-55379800	Enhancers	NHEK	skin
8	chr10:55379400-55380400	Enhancers	HMEC	breast
9	chr10:55379800-55381600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr10:55379800-55387600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr10:55390400-55390600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr10:55390600-55394000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr10:55394000-55394400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr10:55394200-55394400	Enhancers	Fetal Kidney	kidney
15	chr10:55394200-55395200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr10:55394400-55395200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr10:55395000-55395200	Enhancers	Fetal Kidney	kidney
18	chr10:55397000-55398400	Enhancers	Fetal Lung	lung
19	chr10:55397800-55398400	Enhancers	Primary hematopoietic stem cells	blood
20	chr10:55398400-55403200	Weak transcription	Fetal Lung	lung
21	chr10:55403200-55406200	Enhancers	Fetal Lung	lung
22	chr10:55405200-55407400	Enhancers	Fetal Stomach	stomach
23	chr10:55406200-55406600	Flanking Active TSS	Fetal Lung	lung
24	chr10:55406200-55406600	Enhancers	Stomach Smooth Muscle	stomach
25	chr10:55406400-55407200	Enhancers	Fetal Brain Male	brain
26	chr10:55406600-55409000	Enhancers	Fetal Lung	lung
27	chr10:55407400-55408400	Weak transcription	Fetal Stomach	stomach
28	chr10:55408600-55408800	Enhancers	Fetal Stomach	stomach
29	chr10:55417600-55418400	Enhancers	Fetal Heart	heart
30	chr10:55418400-55424200	Weak transcription	Fetal Heart	heart
31	chr10:55422400-55423000	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr10:55422400-55424400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr10:55422400-55424400	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr10:55423000-55423400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr10:55423400-55426600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr10:55423600-55424200	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr10:55423800-55424200	Enhancers	Fetal Lung	lung
38	chr10:55424000-55424200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr10:55424000-55424400	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr10:55424000-55425000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr10:55424000-55425000	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr10:55424200-55424400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr10:55424200-55424400	Active TSS	Adipose Nuclei	Adipose
44	chr10:55424200-55424600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr10:55424200-55424600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
46	chr10:55424200-55424600	Active TSS	Fetal Kidney	kidney
47	chr10:55424200-55424600	Active TSS	Stomach Smooth Muscle	stomach
48	chr10:55424200-55424800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr10:55424200-55424800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
50	chr10:55424200-55424800	Flanking Active TSS	Fetal Lung	lung

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