Variant report

Variant	esv1419983
Chromosome Location	chr10:49674320-49674321
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	chr10:49514372..49515875-chr10:49672720..49674716,2	K562	blood:

Variant related genes	Relation type
ENSG00000107643	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 71 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549070069	chr10:49674321-49674322	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer	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:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49655200-49677800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr10:49657800-49677600	Weak transcription	HSMMtube	muscle
3	chr10:49665400-49675000	Weak transcription	HUVEC	blood vessel
4	chr10:49668200-49674400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr10:49668400-49676200	Weak transcription	NHLF	lung
6	chr10:49669200-49674800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr10:49670200-49675200	Weak transcription	Osteobl	bone
8	chr10:49670800-49674800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr10:49671000-49680400	Enhancers	Primary hematopoietic stem cells	blood
10	chr10:49671200-49674400	Enhancers	Colon Smooth Muscle	Colon
11	chr10:49671200-49675400	Enhancers	Brain Hippocampus Middle	brain
12	chr10:49671400-49674800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr10:49671400-49675200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr10:49671400-49675600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr10:49671800-49674400	Enhancers	Esophagus	oesophagus
16	chr10:49672400-49675200	Bivalent Enhancer	Placenta	Placenta
17	chr10:49672400-49675400	Enhancers	Brain Substantia Nigra	brain
18	chr10:49672400-49677200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr10:49672400-49683400	Weak transcription	Spleen	Spleen
20	chr10:49672600-49674400	Enhancers	Left Ventricle	heart
21	chr10:49672600-49681800	Weak transcription	Aorta	Aorta
22	chr10:49672800-49674600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr10:49672800-49675200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr10:49673000-49681200	Weak transcription	HSMM	muscle
25	chr10:49673200-49674600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr10:49673200-49674600	Flanking Active TSS	NHEK	skin
27	chr10:49673400-49674400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr10:49673400-49674400	Active TSS	Right Ventricle	heart
29	chr10:49673400-49674600	Enhancers	NH-A	brain
30	chr10:49673400-49674800	Enhancers	Brain Angular Gyrus	brain
31	chr10:49673400-49675000	Weak transcription	Fetal Thymus	thymus
32	chr10:49673400-49675000	Flanking Active TSS	HMEC	breast
33	chr10:49673600-49674400	Bivalent Enhancer	Adipose Nuclei	Adipose
34	chr10:49673600-49674400	Flanking Active TSS	Brain Anterior Caudate	brain
35	chr10:49673600-49674400	Weak transcription	Ovary	ovary
36	chr10:49673600-49675400	Enhancers	NHDF-Ad	bronchial
37	chr10:49673600-49677600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr10:49673800-49674400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr10:49673800-49674400	Flanking Active TSS	Brain Cingulate Gyrus	brain
40	chr10:49673800-49674400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
41	chr10:49673800-49674400	Enhancers	Psoas Muscle	Psoas
42	chr10:49673800-49674400	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
43	chr10:49673800-49675200	Bivalent Enhancer	Fetal Brain Male	brain
44	chr10:49673800-49676200	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr10:49674000-49674400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
46	chr10:49674000-49674400	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
47	chr10:49674000-49674400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
48	chr10:49674000-49674600	Bivalent Enhancer	Fetal Intestine Small	intestine
49	chr10:49674000-49675000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
50	chr10:49674000-49675000	Weak transcription	K562	blood

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