Variant report

Variant	nsv948330
Chromosome Location	chr10:43311844-43319274
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 378 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:378 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575275874	chr10:43311940-43311941	Flanking Active TSS Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs542830918	chr10:43311957-43311958	Flanking Active TSS Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs180880896	chr10:43311978-43311979	Flanking Active TSS Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560878589	chr10:43311995-43311996	Flanking Active TSS Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs372903352	chr10:43312002-43312003	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs374528239	chr10:43312004-43312005	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs141419423	chr10:43312058-43312059	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs147533760	chr10:43312073-43312074	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs140238109	chr10:43312079-43312080	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs368599540	chr10:43312091-43312092	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs147307707	chr10:43312113-43312114	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs377652361	chr10:43312127-43312128	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs550719980	chr10:43312131-43312132	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs370679145	chr10:43312163-43312164	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs137860630	chr10:43312178-43312179	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs530166860	chr10:43312205-43312206	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs3867298	chr10:43312227-43312228	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs191354079	chr10:43312243-43312244	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs181849317	chr10:43312278-43312279	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs558791309	chr10:43312306-43312307	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs74548068	chr10:43312315-43312316	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs186193414	chr10:43312344-43312345	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs533680773	chr10:43312350-43312351	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs144669739	chr10:43312363-43312364	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs540541508	chr10:43312364-43312365	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs575290393	chr10:43312388-43312389	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs787796	chr10:43312413-43312414	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs528865621	chr10:43312429-43312430	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs138711044	chr10:43312454-43312455	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs549148053	chr10:43312546-43312547	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs573031516	chr10:43312571-43312572	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs190959138	chr10:43312578-43312579	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs144641775	chr10:43312620-43312621	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs3982205	chr10:43312784-43312785	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs11239786	chr10:43312807-43312808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs544576935	chr10:43312808-43312809	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs562782218	chr10:43312812-43312813	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs530040818	chr10:43312842-43312843	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs548237184	chr10:43312844-43312845	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs139896209	chr10:43312910-43312911	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs4261239	chr10:43312934-43312935	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs201668020	chr10:43312962-43312963	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs12245355	chr10:43312970-43312971	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs111566667	chr10:43312984-43312985	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs551605480	chr10:43312988-43312989	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs376412660	chr10:43312991-43312992	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs538198873	chr10:43312992-43312993	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs12269000	chr10:43312996-43312997	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs571329920	chr10:43313008-43313009	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
50	rs183257670	chr10:43313067-43313068	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Lung cancer	18438408	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
Mental retardation	21062444	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
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Intellectual disability	21811512	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
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:385 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43279800-43324000	Strong transcription	Liver	Liver
2	chr10:43279800-43328200	Strong transcription	Primary T helper cells fromperipheralblood	blood
3	chr10:43293200-43332400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr10:43294600-43322800	Weak transcription	Stomach Mucosa	stomach
5	chr10:43298800-43313000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr10:43299600-43318600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr10:43299800-43312400	Weak transcription	HSMMtube	muscle
8	chr10:43299800-43313000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr10:43300000-43312800	Weak transcription	Fetal Brain Male	brain
10	chr10:43300000-43318000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr10:43301600-43323000	Weak transcription	HMEC	breast
12	chr10:43301800-43318000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr10:43301800-43325800	Weak transcription	NHLF	lung
14	chr10:43302600-43312800	Weak transcription	Fetal Kidney	kidney
15	chr10:43302800-43313000	Weak transcription	Brain Hippocampus Middle	brain
16	chr10:43303000-43317800	Weak transcription	NH-A	brain
17	chr10:43303200-43313000	Weak transcription	Brain Substantia Nigra	brain
18	chr10:43303200-43313200	Weak transcription	Right Ventricle	heart
19	chr10:43303200-43322200	Weak transcription	Psoas Muscle	Psoas
20	chr10:43303400-43312400	Weak transcription	Left Ventricle	heart
21	chr10:43303400-43313000	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr10:43303400-43313000	Weak transcription	Rectal Smooth Muscle	rectum
23	chr10:43303600-43325800	Weak transcription	Colon Smooth Muscle	Colon
24	chr10:43303600-43332200	Weak transcription	NHDF-Ad	bronchial
25	chr10:43303800-43314000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr10:43304600-43323000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr10:43305800-43313000	Weak transcription	Brain Anterior Caudate	brain
28	chr10:43306400-43312400	Weak transcription	Placenta	Placenta
29	chr10:43306400-43320000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr10:43308200-43312000	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr10:43308200-43312400	Weak transcription	Fetal Lung	lung
32	chr10:43308200-43313000	Weak transcription	Aorta	Aorta
33	chr10:43308200-43314000	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr10:43308200-43328200	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr10:43308400-43312200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr10:43308400-43312400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr10:43308400-43312400	Weak transcription	Esophagus	oesophagus
38	chr10:43308400-43313000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr10:43308400-43313000	Weak transcription	Brain Angular Gyrus	brain
40	chr10:43308400-43313200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr10:43308400-43316200	Strong transcription	Dnd41	blood
42	chr10:43309800-43312000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr10:43309800-43312000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr10:43309800-43312200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr10:43309800-43312200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr10:43309800-43312800	Weak transcription	Primary hematopoietic stem cells	blood
47	chr10:43309800-43314600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr10:43309800-43316000	Weak transcription	HSMM	muscle
49	chr10:43309800-43316400	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr10:43309800-43319800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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