Variant report

Variant	esv1096988
Chromosome Location	chr10:5644119-5644207
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:5642990..5644643-chr10:5647471..5649799,2	K562	blood:
2	chr10:5586636..5588159-chr10:5643380..5645259,2	MCF-7	breast:
3	chr10:5641054..5644302-chr10:5649711..5652156,3	MCF-7	breast:
4	chr10:5586709..5589122-chr10:5643770..5645701,3	MCF-7	breast:
5	chr10:5637919..5639908-chr10:5640441..5644476,4	MCF-7	breast:
6	chr10:5643461..5645652-chr10:5657052..5659260,2	MCF-7	breast:
7	chr10:5636158..5637670-chr10:5644195..5645810,2	K562	blood:
8	chr10:5622553..5625678-chr10:5643794..5647662,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000242147	chromatin interactions

Extended variants
information (count: 14 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71388454	chr10:5644120-5644121	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs75078597	chr10:5644126-5644127	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs565786629	chr10:5644127-5644128	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs550300735	chr10:5644139-5644140	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs11257925	chr10:5644140-5644141	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs533385612	chr10:5644156-5644157	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs79393022	chr10:5644157-5644158	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs75777243	chr10:5644158-5644159	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs71199966	chr10:5644163-5644164	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs113948063	chr10:5644164-5644165	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs116975260	chr10:5644183-5644184	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs114123966	chr10:5644184-5644185	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs79095899	chr10:5644202-5644203	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs79110912	chr10:5644207-5644208	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance

Variant related diseases (count:56)

Disease	PMID	Source
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Cancer	21129771	CNVD
Colorectal cancer	20709793	CNVD
Wilms tumour	19047088	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Barakat syndrome	22470819	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	21720365	CNVD
Autism	18414403	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22032731	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	17363583	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Renal cell carcinoma	18765545	CNVD
lymphocytic leukemia	21291569	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Ovarian cancer	22355333	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5634800-5651200	Weak transcription	Pancreas	Pancrea
2	chr10:5639800-5650200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr10:5639800-5651600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr10:5640200-5645400	Weak transcription	HMEC	breast
5	chr10:5641600-5644600	Enhancers	Fetal Heart	heart
6	chr10:5642400-5645400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr10:5642600-5651000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr10:5643200-5644600	Enhancers	Adipose Nuclei	Adipose
9	chr10:5643400-5644200	Enhancers	Liver	Liver
10	chr10:5643400-5644200	Enhancers	Lung	lung
11	chr10:5643400-5644200	Enhancers	Psoas Muscle	Psoas
12	chr10:5643400-5644400	Enhancers	Aorta	Aorta
13	chr10:5643400-5644600	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr10:5643400-5644600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr10:5643400-5645000	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr10:5643400-5645200	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr10:5643600-5644400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr10:5643600-5644400	Enhancers	Fetal Muscle Leg	muscle
19	chr10:5643600-5644400	Enhancers	Right Ventricle	heart
20	chr10:5643600-5648400	Weak transcription	Esophagus	oesophagus
21	chr10:5643800-5644400	Enhancers	Fetal Muscle Trunk	muscle
22	chr10:5643800-5644400	Enhancers	Right Atrium	heart
23	chr10:5643800-5644600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr10:5643800-5645800	Enhancers	HepG2	liver
25	chr10:5644000-5644400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr10:5644000-5644600	Enhancers	Fetal Thymus	thymus
27	chr10:5644000-5648600	Weak transcription	Primary hematopoietic stem cells	blood
28	chr10:5644200-5645400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr10:5644200-5650600	Weak transcription	Liver	Liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links