Variant report

Variant	nsv895418
Chromosome Location	chr10:55407502-55429765
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: 547 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:547 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1080098	chr10:55407502-55407503	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs75383729	chr10:55407519-55407520	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs374991552	chr10:55407522-55407523	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560282168	chr10:55407585-55407586	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs11003730	chr10:55407618-55407619	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs532385144	chr10:55407647-55407648	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs138773768	chr10:55407662-55407663	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs116102337	chr10:55407687-55407688	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs548390502	chr10:55407691-55407692	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192811652	chr10:55407709-55407710	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs116358585	chr10:55407710-55407711	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs138567164	chr10:55407726-55407727	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs369719791	chr10:55407791-55407792	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373660200	chr10:55407805-55407806	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs149293271	chr10:55407848-55407849	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs11003731	chr10:55407860-55407861	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs538874635	chr10:55407862-55407863	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs115655893	chr10:55407863-55407864	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183056005	chr10:55407877-55407878	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538110885	chr10:55407906-55407907	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555242314	chr10:55407918-55407919	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187733346	chr10:55407991-55407992	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540220128	chr10:55408030-55408031	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553940201	chr10:55408034-55408035	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs79070462	chr10:55408072-55408073	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113265856	chr10:55408120-55408121	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs192636484	chr10:55408126-55408127	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550923897	chr10:55408133-55408134	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562630210	chr10:55408134-55408135	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs114245146	chr10:55408161-55408162	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs375423883	chr10:55408175-55408176	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541803520	chr10:55408324-55408325	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs144637469	chr10:55408379-55408380	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183547966	chr10:55408391-55408392	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546566320	chr10:55408424-55408425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs186560409	chr10:55408444-55408445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs566646167	chr10:55408454-55408455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs35871108	chr10:55408492-55408493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs548024286	chr10:55408517-55408518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs192746115	chr10:55408529-55408530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs148059057	chr10:55408554-55408555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs567831081	chr10:55408573-55408574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs11819709	chr10:55408649-55408650	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs373331674	chr10:55408680-55408681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs77287372	chr10:55408754-55408755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs375784560	chr10:55408755-55408756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs568716615	chr10:55408839-55408840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs142391963	chr10:55408847-55408848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs1489828	chr10:55408854-55408855	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs374343688	chr10:55408871-55408872	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:55406600-55409000	Enhancers	Fetal Lung	lung
2	chr10:55407400-55408400	Weak transcription	Fetal Stomach	stomach
3	chr10:55408600-55408800	Enhancers	Fetal Stomach	stomach
4	chr10:55417600-55418400	Enhancers	Fetal Heart	heart
5	chr10:55418400-55424200	Weak transcription	Fetal Heart	heart
6	chr10:55422400-55423000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr10:55422400-55424400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr10:55422400-55424400	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr10:55423000-55423400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr10:55423400-55426600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr10:55423600-55424200	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr10:55423800-55424200	Enhancers	Fetal Lung	lung
13	chr10:55424000-55424200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr10:55424000-55424400	Enhancers	Duodenum Smooth Muscle	Duodenum
15	chr10:55424000-55425000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr10:55424000-55425000	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr10:55424200-55424400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr10:55424200-55424400	Active TSS	Adipose Nuclei	Adipose
19	chr10:55424200-55424600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr10:55424200-55424600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
21	chr10:55424200-55424600	Active TSS	Fetal Kidney	kidney
22	chr10:55424200-55424600	Active TSS	Stomach Smooth Muscle	stomach
23	chr10:55424200-55424800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr10:55424200-55424800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
25	chr10:55424200-55424800	Flanking Active TSS	Fetal Lung	lung
26	chr10:55424200-55424800	Active TSS	Rectal Mucosa Donor 29	rectum
27	chr10:55424200-55425000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr10:55424200-55425000	Enhancers	Fetal Heart	heart
29	chr10:55424200-55425000	Enhancers	Fetal Intestine Small	intestine
30	chr10:55424200-55425000	Enhancers	Fetal Stomach	stomach
31	chr10:55424400-55424600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr10:55424400-55424800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr10:55424400-55424800	Flanking Active TSS	Adipose Nuclei	Adipose
34	chr10:55424400-55424800	Enhancers	Liver	Liver
35	chr10:55424400-55424800	Enhancers	Brain Anterior Caudate	brain
36	chr10:55424400-55424800	Enhancers	Colonic Mucosa	Colon
37	chr10:55424400-55424800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr10:55424400-55424800	Enhancers	Ovary	ovary
39	chr10:55424400-55424800	Enhancers	Right Ventricle	heart
40	chr10:55424400-55425000	Enhancers	Fetal Muscle Leg	muscle
41	chr10:55424600-55424800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr10:55424600-55424800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr10:55424600-55424800	Flanking Active TSS	Fetal Kidney	kidney
44	chr10:55424600-55424800	Enhancers	Left Ventricle	heart
45	chr10:55424600-55424800	Enhancers	Pancreas	Pancrea
46	chr10:55424600-55424800	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr10:55424600-55424800	Flanking Active TSS	Stomach Smooth Muscle	stomach
48	chr10:55424600-55424800	Enhancers	HMEC	breast
49	chr10:55424600-55425000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr10:55424600-55425000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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