Variant report

Variant	esv18030
Chromosome Location	chr10:49779790-49780486
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4101281	chr10:49779790-49779791	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs368355892	chr10:49779807-49779808	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs3853765	chr10:49779814-49779815	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs563460616	chr10:49779828-49779829	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs190655527	chr10:49779852-49779853	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs386743498	chr10:49779889-49779890	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs112329037	chr10:49779890-49779891	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs4989810	chr10:49779891-49779892	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs117958268	chr10:49779894-49779895	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs4989811	chr10:49779933-49779934	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs182394097	chr10:49779955-49779956	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs571285345	chr10:49780085-49780086	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs3867454	chr10:49780095-49780096	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs3867455	chr10:49780104-49780105	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs576223566	chr10:49780127-49780128	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs375857570	chr10:49780143-49780144	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs544310313	chr10:49780144-49780145	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs555598459	chr10:49780146-49780147	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs187030144	chr10:49780200-49780201	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs541390532	chr10:49780228-49780229	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs397842339	chr10:49780229-49780230	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs150921184	chr10:49780230-49780231	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs543231510	chr10:49780238-49780239	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs112404439	chr10:49780249-49780250	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs374063926	chr10:49780260-49780261	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs374030980	chr10:49780335-49780336	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs577998792	chr10:49780347-49780348	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs561117070	chr10:49780363-49780364	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs3853766	chr10:49780369-49780370	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs192216772	chr10:49780442-49780443	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs530717674	chr10:49780447-49780448	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs3905490	chr10:49780481-49780482	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:71)

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
Acute myeloid leukemia	19651601	CNVD
Breast cancer	20409316	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Rett syndrome	21593744	CNVD
Glioblastoma multiforme	22286061	CNVD
Neuroblastoma	21899760	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49757400-49782200	Weak transcription	HSMMtube	muscle
2	chr10:49761600-49780600	Weak transcription	HUVEC	blood vessel
3	chr10:49763200-49780800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr10:49771800-49780200	Strong transcription	Muscle Satellite Cultured Cells	--
5	chr10:49773000-49782600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr10:49773000-49787400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr10:49773200-49787800	Weak transcription	Brain Angular Gyrus	brain
8	chr10:49773400-49786200	Weak transcription	Brain Hippocampus Middle	brain
9	chr10:49773400-49786600	Strong transcription	HSMM	muscle
10	chr10:49775600-49782600	Weak transcription	Aorta	Aorta
11	chr10:49776400-49786200	Weak transcription	Brain Substantia Nigra	brain
12	chr10:49776800-49780200	Weak transcription	Osteobl	bone
13	chr10:49777000-49787400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr10:49777200-49781200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr10:49777400-49787400	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr10:49778000-49780400	Weak transcription	NHLF	lung
17	chr10:49778000-49781200	Weak transcription	NH-A	brain
18	chr10:49778800-49783800	Weak transcription	Primary hematopoietic stem cells	blood
19	chr10:49779000-49780200	Weak transcription	NHDF-Ad	bronchial
20	chr10:49779000-49780400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr10:49779000-49780400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr10:49779000-49782000	Enhancers	Primary B cells from cord blood	blood
23	chr10:49779000-49782600	Enhancers	Primary B cells from peripheral blood	blood
24	chr10:49779000-49782600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr10:49779200-49784400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr10:49779400-49780200	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr10:49779400-49780200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr10:49779400-49780200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr10:49779400-49780600	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr10:49779400-49788000	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr10:49780200-49780800	Enhancers	Osteobl	bone
32	chr10:49780200-49781200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr10:49780200-49781200	Genic enhancers	Muscle Satellite Cultured Cells	--
34	chr10:49780200-49781600	Enhancers	NHDF-Ad	bronchial
35	chr10:49780200-49783600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr10:49780200-49783800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr10:49780400-49781000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr10:49780400-49781000	Enhancers	HMEC	breast
39	chr10:49780400-49781000	Enhancers	NHLF	lung
40	chr10:49780400-49781200	Enhancers	GM12878-XiMat	blood
41	chr10:49780400-49782800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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