Variant report

Variant	esv3330623
Chromosome Location	chr10:44559531-44559971
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	chr10:44558501..44560332-chr10:44561547..44563769,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533658809	chr10:44559568-44559569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs150435544	chr10:44559613-44559614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs577029206	chr10:44559638-44559639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs538115331	chr10:44559665-44559666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs138124440	chr10:44559706-44559707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs268317	chr10:44559713-44559714	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs571814064	chr10:44559715-44559716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs542186698	chr10:44559722-44559723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs73289422	chr10:44559772-44559773	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs114320028	chr10:44559796-44559797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs192073587	chr10:44559804-44559805	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs149141624	chr10:44559814-44559815	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs532353257	chr10:44559815-44559816	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550540950	chr10:44559875-44559876	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562797257	chr10:44559902-44559903	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs79613821	chr10:44559933-44559934	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534530759	chr10:44559958-44559959	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547631393	chr10:44559964-44559965	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs78144354	chr10:44559965-44559966	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs397935236	chr10:44559967-44559968	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Schizophrenia	20967226	CNVD
Bipolar disorder	19214233	CNVD
Hypoplastic left heart syndrome	22349727	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:44553200-44560800	Weak transcription	Gastric	stomach
2	chr10:44553200-44561200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr10:44556800-44561400	Weak transcription	Fetal Kidney	kidney
4	chr10:44557800-44559800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr10:44558600-44561200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr10:44558800-44560800	Weak transcription	Esophagus	oesophagus
7	chr10:44558800-44562800	Enhancers	Fetal Stomach	stomach
8	chr10:44559000-44560800	Enhancers	Stomach Smooth Muscle	stomach
9	chr10:44559000-44561600	Enhancers	Pancreas	Pancrea
10	chr10:44559000-44562600	Enhancers	Ovary	ovary
11	chr10:44559000-44563200	Enhancers	Colon Smooth Muscle	Colon
12	chr10:44559000-44563400	Enhancers	Rectal Smooth Muscle	rectum
13	chr10:44559200-44559600	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr10:44559200-44559800	Enhancers	Lung	lung
15	chr10:44559200-44563200	Enhancers	Fetal Muscle Leg	muscle
16	chr10:44559400-44559600	Enhancers	Duodenum Smooth Muscle	Duodenum
17	chr10:44559400-44559600	Enhancers	Right Ventricle	heart
18	chr10:44559400-44559800	Enhancers	Colonic Mucosa	Colon
19	chr10:44559400-44560800	Weak transcription	NHDF-Ad	bronchial
20	chr10:44559400-44561600	Enhancers	Fetal Muscle Trunk	muscle
21	chr10:44559600-44560400	Enhancers	Brain Germinal Matrix	brain
22	chr10:44559600-44561000	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr10:44559600-44565800	Weak transcription	Right Ventricle	heart
24	chr10:44559800-44560000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr10:44559800-44560000	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr10:44559800-44560000	Enhancers	Left Ventricle	heart
27	chr10:44559800-44560000	Enhancers	Right Atrium	heart
28	chr10:44559800-44560200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr10:44559800-44560800	Weak transcription	Lung	lung
30	chr10:44559800-44561600	Enhancers	Fetal Brain Male	brain

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