Variant report

Variant	nsv825386
Chromosome Location	chr10:54883463-54951261
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:54887739..54890403-chr10:54891523..54893233,2	MCF-7	breast:
2	chr10:54887739..54890403-chr10:54891523..54893233,2	MCF-7	breast:
3	chr10:54912408..54915011-chr10:54917539..54919981,2	MCF-7	breast:
4	chr10:54912408..54915011-chr10:54917539..54919981,2	MCF-7	breast:

Extended variants
information (count: 691 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:691 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs386743796	chr10:54883469-54883470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs11596325	chr10:54883480-54883481	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs557208121	chr10:54883507-54883508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567439034	chr10:54883514-54883515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536349430	chr10:54883524-54883525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs11591937	chr10:54883560-54883561	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs11599201	chr10:54883571-54883572	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs11591938	chr10:54883577-54883578	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs558858133	chr10:54883578-54883579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs145128537	chr10:54883585-54883586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs544477434	chr10:54883591-54883592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561151678	chr10:54883601-54883602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs33981018	chr10:54883642-54883643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs11599226	chr10:54883660-54883661	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs11598681	chr10:54883666-54883667	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs560376914	chr10:54883678-54883679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12771669	chr10:54883692-54883693	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs552587612	chr10:54883713-54883714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113500282	chr10:54883735-54883736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs386371374	chr10:54883736-54883737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs12769665	chr10:54883752-54883753	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs192710413	chr10:54883784-54883785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs66765524	chr10:54883785-54883786	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs67900879	chr10:54883808-54883809	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs67709305	chr10:54883814-54883815	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs553061250	chr10:54883815-54883816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs72802363	chr10:54883844-54883845	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs67370411	chr10:54883847-54883848	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs558154327	chr10:54883857-54883858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs11003396	chr10:54883866-54883867	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs68148849	chr10:54883911-54883912	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs11003397	chr10:54883943-54883944	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs575021022	chr10:54883964-54883965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs72802367	chr10:54883997-54883998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs183947707	chr10:54884019-54884020	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs149102702	chr10:54884076-54884077	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs11003398	chr10:54884082-54884083	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs11003399	chr10:54884089-54884090	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs374235511	chr10:54884099-54884100	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs11003400	chr10:54884112-54884113	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs561003086	chr10:54884133-54884134	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373104484	chr10:54884144-54884145	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs34657246	chr10:54884145-54884146	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs142547813	chr10:54884147-54884148	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs71185266	chr10:54884148-54884149	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs199932550	chr10:54884150-54884151	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs71185267	chr10:54884151-54884152	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs66948573	chr10:54884152-54884153	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs11003401	chr10:54884161-54884162	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs35603270	chr10:54884165-54884166	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:65)

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
Dysmorphic features	21948486	CNVD
Epilepsy	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
Breast cancer	22522925	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:54881200-54884000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr10:54883000-54884000	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr10:54883600-54884200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr10:54884000-54884400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr10:54884000-54884400	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr10:54891600-54894400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr10:54893400-54893800	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr10:54893400-54895000	Enhancers	HUVEC	blood vessel
9	chr10:54893800-54900000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr10:54894000-54896200	Enhancers	HepG2	liver
11	chr10:54894400-54898000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr10:54894800-54895600	Enhancers	Fetal Intestine Large	intestine
13	chr10:54894800-54895800	Enhancers	Fetal Intestine Small	intestine
14	chr10:54895800-54900600	Weak transcription	Fetal Intestine Small	intestine
15	chr10:54898000-54898400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr10:54898400-54900000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr10:54899800-54900400	Enhancers	NHEK	skin
18	chr10:54900000-54900600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr10:54900000-54900800	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr10:54900000-54901200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr10:54900400-54900800	Enhancers	Placenta	Placenta
22	chr10:54900600-54900800	Enhancers	Fetal Intestine Small	intestine
23	chr10:54900800-54902600	Weak transcription	Fetal Intestine Small	intestine
24	chr10:54902200-54902600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr10:54902600-54903200	Enhancers	Fetal Intestine Small	intestine
26	chr10:54908800-54909000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
27	chr10:54909400-54909600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
28	chr10:54910200-54910400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
29	chr10:54910200-54910400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
30	chr10:54910200-54910400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
31	chr10:54910200-54910400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
32	chr10:54910800-54911000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
33	chr10:54918000-54918400	Enhancers	Stomach Mucosa	stomach
34	chr10:54922000-54922600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr10:54922600-54923200	Enhancers	Liver	Liver
36	chr10:54934000-54934400	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr10:54934000-54934400	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr10:54935000-54935200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr10:54936800-54938000	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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