Variant report

Variant	nsv975799
Chromosome Location	chr10:50102058-50106456
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:50103563..50106374-chr10:50108506..50110662,3	K562	blood:
2	chr10:50100816..50103607-chr10:50104193..50105743,2	K562	blood:
3	chr10:50105441..50108221-chr10:50110037..50113154,4	MCF-7	breast:
4	chr10:50100816..50103607-chr10:50104193..50105743,2	K562	blood:
5	chr10:50099890..50101480-chr10:50101582..50103929,2	MCF-7	breast:

Extended variants
information (count: 209 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:209 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544586370	chr10:50102080-50102081	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs17011387	chr10:50102094-50102095	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs116247982	chr10:50102101-50102102	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs112332840	chr10:50102103-50102104	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs186398292	chr10:50102172-50102173	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs150768198	chr10:50102191-50102192	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs570483266	chr10:50102253-50102254	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs552613689	chr10:50102272-50102273	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550283575	chr10:50102298-50102299	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs535095707	chr10:50102304-50102305	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs78625227	chr10:50102354-50102355	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs112764264	chr10:50102364-50102365	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs116764729	chr10:50102400-50102401	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs114674369	chr10:50102408-50102409	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs144745929	chr10:50102450-50102451	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs553817750	chr10:50102477-50102478	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs571976605	chr10:50102487-50102488	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs147474664	chr10:50102512-50102513	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs190861104	chr10:50102570-50102571	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs117347564	chr10:50102607-50102608	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs79545610	chr10:50102636-50102637	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs370175576	chr10:50102664-50102665	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs562723290	chr10:50102694-50102695	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs12248870	chr10:50102718-50102719	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs537286775	chr10:50102740-50102741	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs139883472	chr10:50102750-50102751	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs2943245	chr10:50102756-50102757	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs12248913	chr10:50102757-50102758	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs145325308	chr10:50102759-50102760	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs564645178	chr10:50102796-50102797	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs531688042	chr10:50102848-50102849	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs550034599	chr10:50102890-50102891	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs145433579	chr10:50102891-50102892	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs182576435	chr10:50102892-50102893	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs577024220	chr10:50102910-50102911	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs539457687	chr10:50102930-50102931	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs12252059	chr10:50102955-50102956	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs576117170	chr10:50102958-50102959	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs539391837	chr10:50102960-50102961	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs12252061	chr10:50102963-50102964	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs559363564	chr10:50102969-50102970	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs542120868	chr10:50102998-50102999	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs112492439	chr10:50103008-50103009	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs545780257	chr10:50103037-50103038	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs552903957	chr10:50103058-50103059	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs12252129	chr10:50103072-50103073	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs572641370	chr10:50103076-50103077	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs546226447	chr10:50103077-50103078	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs113042057	chr10:50103109-50103110	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs572519407	chr10:50103120-50103121	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
T-cell primary immunodeficiency	21948486	CNVD
Autism	22543975	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	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

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50072800-50126200	Strong transcription	Primary B cells from peripheral blood	blood
2	chr10:50074200-50107000	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr10:50074600-50129600	Strong transcription	Primary B cells from cord blood	blood
4	chr10:50075400-50126000	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr10:50088000-50109400	Weak transcription	Right Atrium	heart
6	chr10:50092600-50106800	Weak transcription	Primary T cells from cord blood	blood
7	chr10:50096600-50103600	Strong transcription	GM12878-XiMat	blood
8	chr10:50096600-50106200	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr10:50096600-50107800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr10:50098000-50105400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr10:50098000-50110000	Strong transcription	Primary hematopoietic stem cells	blood
12	chr10:50098200-50110200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr10:50099000-50102600	Weak transcription	Lung	lung
14	chr10:50099400-50102600	Weak transcription	Spleen	Spleen
15	chr10:50099600-50108400	Weak transcription	Adipose Nuclei	Adipose
16	chr10:50100200-50102200	Weak transcription	Fetal Brain Male	brain
17	chr10:50100600-50102600	Weak transcription	Fetal Lung	lung
18	chr10:50101600-50122800	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr10:50102000-50107000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr10:50102200-50102400	Enhancers	Fetal Brain Male	brain
21	chr10:50102400-50103000	Enhancers	Fetal Heart	heart
22	chr10:50102400-50105000	Enhancers	Fetal Stomach	stomach
23	chr10:50102600-50103400	Enhancers	Left Ventricle	heart
24	chr10:50102600-50103600	Enhancers	Lung	lung
25	chr10:50102600-50104800	Enhancers	Fetal Lung	lung
26	chr10:50102600-50104800	Enhancers	Fetal Muscle Trunk	muscle
27	chr10:50102600-50105200	Enhancers	Fetal Muscle Leg	muscle
28	chr10:50102600-50106000	Strong transcription	Spleen	Spleen
29	chr10:50103000-50103200	Enhancers	NHDF-Ad	bronchial
30	chr10:50103200-50104800	Enhancers	Ovary	ovary
31	chr10:50103400-50103600	Enhancers	Gastric	stomach
32	chr10:50103400-50103600	Enhancers	Right Ventricle	heart
33	chr10:50103400-50108400	Weak transcription	Left Ventricle	heart
34	chr10:50103600-50104600	Weak transcription	Gastric	stomach
35	chr10:50103600-50104600	Weak transcription	Lung	lung
36	chr10:50103600-50104600	Weak transcription	Right Ventricle	heart
37	chr10:50103600-50105200	Weak transcription	NHDF-Ad	bronchial
38	chr10:50103600-50105800	Weak transcription	GM12878-XiMat	blood
39	chr10:50104000-50104800	Enhancers	Fetal Kidney	kidney
40	chr10:50104000-50115800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr10:50104600-50104800	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr10:50104600-50105000	Enhancers	Colonic Mucosa	Colon
43	chr10:50104600-50105000	Enhancers	Lung	lung
44	chr10:50104600-50105200	Enhancers	Right Ventricle	heart
45	chr10:50104600-50105400	Enhancers	Gastric	stomach
46	chr10:50104800-50105200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
47	chr10:50104800-50105200	Enhancers	Pancreas	Pancrea
48	chr10:50104800-50105400	Enhancers	Stomach Smooth Muscle	stomach
49	chr10:50104800-50119200	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr10:50105000-50105200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin

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