Variant report

Variant	esv15884
Chromosome Location	chr10:49819411-49820388
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:49698335..49701028-chr10:49818067..49819689,2	K562	blood:
2	chr10:49816362..49818003-chr10:49818843..49820950,2	K562	blood:
3	chr10:49814485..49816162-chr10:49819695..49822517,2	MCF-7	breast:
4	chr10:49812643..49815279-chr10:49817934..49821454,3	K562	blood:

Variant related genes	Relation type
ENSG00000128805	chromatin interactions

Extended variants
information (count: 39 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376571565	chr10:49819451-49819452	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs571160505	chr10:49819468-49819469	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs538687864	chr10:49819471-49819472	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs3845284	chr10:49819522-49819523	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs570235058	chr10:49819527-49819528	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs541741814	chr10:49819615-49819616	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs78695159	chr10:49819619-49819620	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs116924779	chr10:49819646-49819647	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs563630053	chr10:49819648-49819649	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs200915333	chr10:49819651-49819652	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs567946152	chr10:49819671-49819672	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs3863273	chr10:49819693-49819694	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs113778887	chr10:49819720-49819721	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs188075545	chr10:49819785-49819786	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs577970333	chr10:49819804-49819805	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs368974593	chr10:49819805-49819806	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs114935465	chr10:49819832-49819833	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs75374465	chr10:49819848-49819849	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs111320855	chr10:49819852-49819853	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs575365976	chr10:49819857-49819858	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs192970146	chr10:49819894-49819895	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs373589786	chr10:49819899-49819900	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs146672701	chr10:49819904-49819905	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs147237796	chr10:49819909-49819910	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs143065346	chr10:49819914-49819915	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs536907117	chr10:49819920-49819921	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs202219348	chr10:49819934-49819935	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs370994664	chr10:49819938-49819939	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs2889660	chr10:49819968-49819969	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs2377521	chr10:49820014-49820015	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs540169282	chr10:49820028-49820029	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs188314417	chr10:49820108-49820109	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs192484405	chr10:49820130-49820131	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs541693636	chr10:49820178-49820179	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs532032450	chr10:49820215-49820216	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs561664005	chr10:49820231-49820232	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs550623961	chr10:49820320-49820321	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs568963253	chr10:49820323-49820324	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs529861580	chr10:49820357-49820358	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	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:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49813400-49844200	Weak transcription	Pancreas	Pancrea
2	chr10:49814000-49820200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr10:49814200-49823400	Enhancers	NHDF-Ad	bronchial
4	chr10:49815000-49823000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr10:49815800-49822200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr10:49816200-49820600	Weak transcription	Brain Hippocampus Middle	brain
7	chr10:49816400-49820400	Weak transcription	Brain Anterior Caudate	brain
8	chr10:49816800-49820400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr10:49817400-49820200	Weak transcription	HUVEC	blood vessel
10	chr10:49817400-49820600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr10:49817600-49820200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr10:49817600-49820200	Weak transcription	NH-A	brain
13	chr10:49818800-49821200	Enhancers	Brain Substantia Nigra	brain
14	chr10:49818800-49821600	Enhancers	HSMMtube	muscle
15	chr10:49819000-49819600	Flanking Active TSS	HSMM	muscle
16	chr10:49819000-49819600	Enhancers	Osteobl	bone
17	chr10:49819200-49819600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr10:49819200-49819600	Flanking Active TSS	GM12878-XiMat	blood
19	chr10:49819200-49820200	Weak transcription	NHLF	lung
20	chr10:49819200-49820800	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr10:49819200-49821000	Enhancers	Muscle Satellite Cultured Cells	--
22	chr10:49819400-49819600	Enhancers	Brain Cingulate Gyrus	brain
23	chr10:49819400-49819600	Enhancers	Placenta	Placenta
24	chr10:49819400-49819600	Enhancers	Spleen	Spleen
25	chr10:49819400-49819800	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr10:49819400-49820400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr10:49819400-49820400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr10:49819400-49821000	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr10:49819400-49823200	Enhancers	HMEC	breast
30	chr10:49819600-49820000	Weak transcription	Osteobl	bone
31	chr10:49819600-49820200	Weak transcription	Brain Cingulate Gyrus	brain
32	chr10:49819600-49821600	Enhancers	GM12878-XiMat	blood
33	chr10:49819600-49822800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr10:49819600-49823200	Enhancers	HSMM	muscle
35	chr10:49819800-49820000	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr10:49820000-49820400	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr10:49820000-49820600	Weak transcription	Aorta	Aorta
38	chr10:49820000-49823000	Enhancers	Osteobl	bone
39	chr10:49820200-49820400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr10:49820200-49820400	Enhancers	Brain Cingulate Gyrus	brain
41	chr10:49820200-49820800	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr10:49820200-49821200	Enhancers	HUVEC	blood vessel
43	chr10:49820200-49821400	Enhancers	NH-A	brain
44	chr10:49820200-49823200	Enhancers	NHLF	lung

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