Variant report

Variant	nsv947981
Chromosome Location	chr10:51023203-51025573
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	chr10:51022250..51024471-chr10:51024656..51027577,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C10orf53-2	chr10:51023142-51023608	NONHSAT013319

Variant related genes	Relation type
ENSG00000229870	chromatin interactions

Extended variants
information (count: 71 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369487642	chr10:51023216-51023217	Strong transcription Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
2	rs534210219	chr10:51023221-51023222	Strong transcription Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
3	rs559169080	chr10:51023346-51023347	Strong transcription Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
4	rs555346661	chr10:51023359-51023360	Strong transcription Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
5	rs144224037	chr10:51023436-51023437	Strong transcription Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
6	rs544744101	chr10:51023439-51023440	Strong transcription Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
7	rs56040437	chr10:51023607-51023608	Strong transcription Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs574975029	chr10:51023611-51023612	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs199679868	chr10:51023652-51023653	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542287163	chr10:51023661-51023662	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs192443693	chr10:51023679-51023680	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs56682916	chr10:51023737-51023738	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs148807657	chr10:51023772-51023773	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs142454570	chr10:51023782-51023783	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs573984645	chr10:51023784-51023785	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544341799	chr10:51023829-51023830	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564379651	chr10:51023847-51023848	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs117850415	chr10:51023864-51023865	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549526201	chr10:51023875-51023876	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs80268480	chr10:51023886-51023887	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs151316142	chr10:51023890-51023891	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs547017374	chr10:51023914-51023915	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565554808	chr10:51023931-51023932	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs183399688	chr10:51023949-51023950	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs377185934	chr10:51024001-51024002	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571083646	chr10:51024031-51024032	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538479010	chr10:51024036-51024037	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187528857	chr10:51024042-51024043	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs559685675	chr10:51024074-51024075	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs528783167	chr10:51024112-51024113	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs575011874	chr10:51024275-51024276	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190512319	chr10:51024344-51024345	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182389439	chr10:51024354-51024355	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187070075	chr10:51024364-51024365	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs139367829	chr10:51024382-51024383	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs73312641	chr10:51024428-51024429	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs60022135	chr10:51024439-51024440	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs562127608	chr10:51024479-51024480	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200589575	chr10:51024613-51024614	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs202194496	chr10:51024629-51024630	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs536422818	chr10:51024632-51024633	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573784262	chr10:51024633-51024634	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543260860	chr10:51024637-51024638	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561524428	chr10:51024687-51024688	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs111589865	chr10:51024700-51024701	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs547112148	chr10:51024725-51024726	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs188701730	chr10:51024778-51024779	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs376281198	chr10:51024834-51024835	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs193291136	chr10:51024838-51024839	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs551345948	chr10:51024839-51024840	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Cancer	21183584	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
Chronic lymphocytic leukemia	21546498	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Renal cell carcinoma	18765545	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Breast cancer	21785460	CNVD
Intellectual disability	21948486	CNVD
Schizophrenia	23813976	CNVD
Intellectual disability	22045946	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Autism	21948486	CNVD
cleft palate	21948486	CNVD
Encephalopathy	21948486	CNVD
Lung cancer	18438408	CNVD
Autism	22543975	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
skeletal anomalies	21948486	CNVD
speech delay	21948486	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Metanephric adenoma	20802469	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
XY gonadal dysgenesis	20685758	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:204 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:51019800-51023400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr10:51019800-51053400	Weak transcription	Small Intestine	intestine
3	chr10:51020000-51025200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr10:51020400-51049600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr10:51020800-51025400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr10:51021200-51025400	Weak transcription	Aorta	Aorta
7	chr10:51021200-51025800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr10:51021200-51026800	Weak transcription	Gastric	stomach
9	chr10:51021400-51023400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr10:51021400-51025000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr10:51021400-51025200	Weak transcription	Brain Anterior Caudate	brain
12	chr10:51021400-51025400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr10:51021400-51025400	Weak transcription	Brain Hippocampus Middle	brain
14	chr10:51021400-51025600	Weak transcription	GM12878-XiMat	blood
15	chr10:51021600-51023400	Weak transcription	Primary B cells from peripheral blood	blood
16	chr10:51021600-51023400	Weak transcription	Left Ventricle	heart
17	chr10:51021600-51023600	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr10:51021600-51023600	Weak transcription	A549	lung
19	chr10:51021600-51025000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr10:51021600-51025200	Weak transcription	Stomach Smooth Muscle	stomach
21	chr10:51021600-51025400	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr10:51021600-51025800	Weak transcription	Liver	Liver
23	chr10:51021800-51023400	Weak transcription	Colon Smooth Muscle	Colon
24	chr10:51021800-51024800	Weak transcription	Fetal Brain Female	brain
25	chr10:51021800-51025200	Weak transcription	Fetal Stomach	stomach
26	chr10:51021800-51025200	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr10:51021800-51025400	Weak transcription	Fetal Intestine Large	intestine
28	chr10:51021800-51025600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr10:51021800-51025600	Weak transcription	Ovary	ovary
30	chr10:51021800-51025600	Weak transcription	Thymus	Thymus
31	chr10:51021800-51032800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr10:51021800-51033400	Weak transcription	Osteobl	bone
33	chr10:51021800-51039600	Weak transcription	Psoas Muscle	Psoas
34	chr10:51022000-51023600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr10:51022000-51024000	Weak transcription	HepG2	liver
36	chr10:51022000-51025200	Weak transcription	Duodenum Mucosa	Duodenum
37	chr10:51022000-51025400	Weak transcription	Fetal Muscle Trunk	muscle
38	chr10:51022000-51025400	Weak transcription	Fetal Thymus	thymus
39	chr10:51022000-51025600	Weak transcription	Hela-S3	cervix
40	chr10:51022000-51027000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr10:51022000-51027000	Weak transcription	NHEK	skin
42	chr10:51022000-51027200	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr10:51022000-51027200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr10:51022000-51027200	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr10:51022000-51027200	Weak transcription	Right Ventricle	heart
46	chr10:51022000-51030200	Weak transcription	Fetal Kidney	kidney
47	chr10:51022200-51027000	Weak transcription	Rectal Smooth Muscle	rectum
48	chr10:51022200-51027400	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr10:51022200-51034800	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr10:51022400-51025400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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