Variant report

Variant	esv3329149
Chromosome Location	chr10:43752226-43752616
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:43746969..43750119-chr10:43752543..43755778,3	K562	blood:
2	chr10:43716570..43717454-chr10:43751032..43752428,7	MCF-7	breast:
3	chr10:43750362..43752659-chr10:43753450..43755922,3	K562	blood:
4	chr10:43623236..43626129-chr10:43750680..43753451,2	K562	blood:
5	chr10:43600712..43601532-chr10:43751532..43752231,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563436952	chr10:43752239-43752240	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs143794441	chr10:43752240-43752241	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs147984557	chr10:43752242-43752243	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs558117706	chr10:43752254-43752255	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs117891881	chr10:43752255-43752256	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs532421205	chr10:43752281-43752282	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs2460557	chr10:43752285-43752286	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs4987092	chr10:43752293-43752294	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs542011110	chr10:43752323-43752324	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs540823043	chr10:43752353-43752354	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs76763923	chr10:43752383-43752384	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs140794373	chr10:43752388-43752389	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs368477590	chr10:43752389-43752390	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs564444790	chr10:43752390-43752391	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs531752270	chr10:43752404-43752405	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs12768110	chr10:43752411-43752412	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs568738700	chr10:43752412-43752413	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs529604237	chr10:43752450-43752451	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs147467450	chr10:43752457-43752458	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs180861895	chr10:43752470-43752471	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs566178472	chr10:43752481-43752482	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs4648312	chr10:43752496-43752497	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs558254651	chr10:43752503-43752504	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs536560707	chr10:43752522-43752523	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs537458472	chr10:43752552-43752553	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs545899826	chr10:43752556-43752557	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs186391804	chr10:43752591-43752592	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs77783920	chr10:43752592-43752593	Weak transcription Enhancers Bivalent Enhancer	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:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43743800-43755000	Weak transcription	Brain Angular Gyrus	brain
2	chr10:43744600-43756200	Enhancers	Spleen	Spleen
3	chr10:43746200-43760000	Weak transcription	A549	lung
4	chr10:43749000-43757200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr10:43749800-43752400	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr10:43750200-43756800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr10:43750400-43753800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
8	chr10:43750400-43756200	Enhancers	Fetal Muscle Leg	muscle
9	chr10:43750600-43752600	Enhancers	Right Ventricle	heart
10	chr10:43750800-43752800	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr10:43750800-43753400	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr10:43750800-43761600	Weak transcription	Right Atrium	heart
13	chr10:43751200-43752400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr10:43751200-43752600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr10:43751200-43752800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr10:43751200-43754000	Weak transcription	Pancreas	Pancrea
17	chr10:43751200-43754600	Weak transcription	Lung	lung
18	chr10:43751400-43752400	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr10:43751400-43753600	Weak transcription	Brain Hippocampus Middle	brain
20	chr10:43751400-43754400	Weak transcription	Adipose Nuclei	Adipose
21	chr10:43751400-43755600	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr10:43751600-43755800	Weak transcription	Brain Cingulate Gyrus	brain
23	chr10:43751800-43752800	Enhancers	Left Ventricle	heart
24	chr10:43751800-43752800	Enhancers	K562	blood
25	chr10:43751800-43755400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr10:43751800-43757800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr10:43752000-43752800	Enhancers	Primary hematopoietic stem cells	blood
28	chr10:43752000-43752800	Enhancers	Fetal Heart	heart
29	chr10:43752000-43754000	Weak transcription	Brain Anterior Caudate	brain
30	chr10:43752200-43752800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr10:43752400-43756600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr10:43752600-43752800	Bivalent Enhancer	HepG2	liver

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