Variant report

Variant	esv3323883
Chromosome Location	chr10:43581346-43585844
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:43579643..43581967-chr10:43583481..43585726,2	MCF-7	breast:
2	chr10:43571757..43578165-chr10:43578692..43585292,10	MCF-7	breast:
3	chr10:43575206..43579107-chr10:43583018..43585750,4	K562	blood:
4	chr10:43585387..43587338-chr10:43587452..43589523,2	K562	blood:
5	chr10:43583134..43585872-chr10:43588187..43591197,3	MCF-7	breast:
6	chr10:43476676..43477639-chr10:43581673..43582410,2	MCF-7	breast:
7	chr10:43579643..43581967-chr10:43583481..43585726,2	MCF-7	breast:
8	chr10:43521617..43522540-chr10:43581453..43582423,6	MCF-7	breast:
9	chr10:43581616..43582507-chr10:43605989..43606921,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000229630	chromatin interactions
ENSG00000165731	chromatin interactions

Extended variants
information (count: 197 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:197 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534441099	chr10:43581389-43581390	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs560277159	chr10:43581411-43581412	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs112194809	chr10:43581423-43581424	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs143650657	chr10:43581428-43581429	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs397835243	chr10:43581500-43581501	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs2506006	chr10:43581501-43581502	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs564208372	chr10:43581512-43581513	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs566098557	chr10:43581641-43581642	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs531810071	chr10:43581670-43581671	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs148121145	chr10:43581714-43581715	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs568746280	chr10:43581726-43581727	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs535767875	chr10:43581729-43581730	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs548218386	chr10:43581739-43581740	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs146487116	chr10:43581762-43581763	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs201992304	chr10:43581765-43581766	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs375035236	chr10:43581781-43581782	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs533923516	chr10:43581869-43581870	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs558699656	chr10:43581907-43581908	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs73266197	chr10:43581968-43581969	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs2506005	chr10:43581980-43581981	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs2435357	chr10:43582056-43582057	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs537638504	chr10:43582057-43582058	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs541754414	chr10:43582063-43582064	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs554066189	chr10:43582070-43582071	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs554164149	chr10:43582091-43582092	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs73266201	chr10:43582110-43582111	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs557884921	chr10:43582116-43582117	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs558124342	chr10:43582143-43582144	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs564244171	chr10:43582160-43582161	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs531652756	chr10:43582161-43582162	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs368137511	chr10:43582163-43582164	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs578004473	chr10:43582221-43582222	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs543652410	chr10:43582235-43582236	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs12779870	chr10:43582271-43582272	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs2506004	chr10:43582273-43582274	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs573072520	chr10:43582305-43582306	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs139268038	chr10:43582312-43582313	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs566326623	chr10:43582364-43582365	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs182963135	chr10:43582385-43582386	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs553424274	chr10:43582435-43582436	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs552154148	chr10:43582444-43582445	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs573252817	chr10:43582467-43582468	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs570569057	chr10:43582484-43582485	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs542343332	chr10:43582497-43582498	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs537929378	chr10:43582498-43582499	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs556369947	chr10:43582502-43582503	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs188104560	chr10:43582512-43582513	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs562032562	chr10:43582513-43582514	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs542085465	chr10:43582552-43582553	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs553804068	chr10:43582592-43582593	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43573600-43591800	Weak transcription	Right Atrium	heart
2	chr10:43578600-43585400	Weak transcription	Gastric	stomach
3	chr10:43579000-43584200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr10:43579000-43585600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr10:43581000-43582600	Enhancers	Liver	Liver
6	chr10:43581000-43593000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr10:43581400-43582600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
8	chr10:43581600-43582600	Enhancers	Fetal Muscle Leg	muscle
9	chr10:43581800-43582600	Enhancers	HSMMtube	muscle
10	chr10:43582600-43582800	Enhancers	Fetal Muscle Trunk	muscle
11	chr10:43582800-43583400	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr10:43583400-43583600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
13	chr10:43583600-43584800	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr10:43584000-43584800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr10:43584200-43584800	Enhancers	H1 Cell Line	embryonic stem cell
16	chr10:43584200-43585200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr10:43584400-43586400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr10:43584800-43585200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
19	chr10:43584800-43588600	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr10:43585000-43586200	Enhancers	Fetal Muscle Leg	muscle
21	chr10:43585200-43588600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr10:43585400-43586000	Enhancers	Gastric	stomach
23	chr10:43585400-43586000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
24	chr10:43585800-43586400	Enhancers	Placenta	Placenta

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