Variant report

Variant	nsv1042400
Chromosome Location	chr10:43578668-43592346
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:32)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:32 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:43576417..43579207-chr10:43590495..43592572,2	MCF-7	breast:
2	chr10:43571757..43578165-chr10:43578692..43585292,10	MCF-7	breast:
3	chr10:43588801..43589617-chr10:43600178..43601154,2	MCF-7	breast:
4	chr10:43521617..43522540-chr10:43581453..43582423,6	MCF-7	breast:
5	chr10:43523482..43525302-chr10:43587306..43589145,2	MCF-7	breast:
6	chr10:43587904..43589717-chr10:43600959..43603478,2	MCF-7	breast:
7	chr10:43370478..43372425-chr10:43586111..43588010,2	MCF-7	breast:
8	chr10:43578754..43580371-chr10:43586605..43589212,2	MCF-7	breast:
9	chr10:43576471..43578600-chr10:43587847..43590261,2	MCF-7	breast:
10	chr10:43578198..43579973-chr10:43594655..43597408,2	MCF-7	breast:
11	chr10:43579643..43581967-chr10:43583481..43585726,2	MCF-7	breast:
12	chr10:43571954..43575948-chr10:43588456..43593172,4	MCF-7	breast:
13	chr10:43575206..43579107-chr10:43583018..43585750,4	K562	blood:
14	chr10:43579643..43581967-chr10:43583481..43585726,2	MCF-7	breast:
15	chr10:43578754..43580371-chr10:43586605..43589212,2	MCF-7	breast:
16	chr10:43588758..43591392-chr10:43592644..43594640,2	MCF-7	breast:
17	chr10:43577015..43578995-chr10:43604341..43606597,2	MCF-7	breast:
18	chr10:43563405..43565262-chr10:43578421..43580080,2	K562	blood:
19	chr10:43520346..43523029-chr10:43587909..43590894,3	MCF-7	breast:
20	chr10:43521600..43522503-chr10:43589625..43590206,2	MCF-7	breast:
21	chr10:43583134..43585872-chr10:43588187..43591197,3	MCF-7	breast:
22	chr10:43476676..43477639-chr10:43581673..43582410,2	MCF-7	breast:
23	chr10:43522095..43524147-chr10:43592185..43594122,2	MCF-7	breast:
24	chr10:43581616..43582507-chr10:43605989..43606921,3	MCF-7	breast:
25	chr10:43583134..43585872-chr10:43588187..43591197,3	MCF-7	breast:
26	chr10:43585387..43587338-chr10:43587452..43589523,2	K562	blood:
27	chr10:43589765..43592695-chr10:43600961..43603100,2	MCF-7	breast:
28	chr10:43589023..43591875-chr10:43596909..43598786,2	MCF-7	breast:
29	chr10:43585387..43587338-chr10:43587452..43589523,2	K562	blood:
30	chr10:43575206..43579107-chr10:43583018..43585750,4	K562	blood:
31	chr10:43589175..43591364-chr10:43599200..43601057,2	MCF-7	breast:
32	chr10:43576417..43579207-chr10:43590495..43592572,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000229630	chromatin interactions
ENSG00000165731	chromatin interactions

Extended variants
information (count: 551 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:551 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557618038	chr10:43578686-43578687	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs376828093	chr10:43578721-43578722	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs543212298	chr10:43578728-43578729	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs138186541	chr10:43578744-43578745	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs191535090	chr10:43578757-43578758	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs2435362	chr10:43578779-43578780	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs546357842	chr10:43578841-43578842	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs149626767	chr10:43578859-43578860	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs551039421	chr10:43578870-43578871	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs563176833	chr10:43578873-43578874	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs530631871	chr10:43578890-43578891	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs548736461	chr10:43578902-43578903	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs2506019	chr10:43578915-43578916	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs534876327	chr10:43578916-43578917	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs74438020	chr10:43578927-43578928	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs72781219	chr10:43578952-43578953	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs2435361	chr10:43578953-43578954	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs539172470	chr10:43578999-43579000	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs557509948	chr10:43579018-43579019	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs118122854	chr10:43579019-43579020	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs531258302	chr10:43579020-43579021	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs536842218	chr10:43579040-43579041	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs555105497	chr10:43579059-43579060	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs2506020	chr10:43579073-43579074	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs201622003	chr10:43579080-43579081	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs75991392	chr10:43579082-43579083	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs540916948	chr10:43579109-43579110	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs372480063	chr10:43579143-43579144	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs36069839	chr10:43579162-43579163	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs28576188	chr10:43579163-43579164	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs544569691	chr10:43579168-43579169	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs28464869	chr10:43579190-43579191	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs147293373	chr10:43579194-43579195	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs542464309	chr10:43579336-43579337	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs561125509	chr10:43579352-43579353	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs141056283	chr10:43579427-43579428	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs546859058	chr10:43579526-43579527	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs1897001	chr10:43579530-43579531	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs1897000	chr10:43579536-43579537	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs550947769	chr10:43579557-43579558	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs569383385	chr10:43579591-43579592	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs1896999	chr10:43579592-43579593	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs554912801	chr10:43579596-43579597	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs567031733	chr10:43579613-43579614	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs559619934	chr10:43579621-43579622	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs529329060	chr10:43579642-43579643	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs79257240	chr10:43579656-43579657	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs143333882	chr10:43579657-43579658	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs181617835	chr10:43579719-43579720	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs186865295	chr10:43579762-43579763	Enhancers Weak transcription Flanking Active TSS	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:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43573600-43591800	Weak transcription	Right Atrium	heart
2	chr10:43574600-43580800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr10:43574800-43580800	Enhancers	Primary hematopoietic stem cells	blood
4	chr10:43576200-43579000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
5	chr10:43576800-43579000	Enhancers	Pancreas	Pancrea
6	chr10:43577200-43579600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr10:43577400-43579000	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr10:43577400-43579600	Bivalent Enhancer	Fetal Muscle Leg	muscle
9	chr10:43577600-43579000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr10:43578000-43579200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr10:43578200-43579200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
12	chr10:43578400-43579000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
13	chr10:43578400-43580600	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr10:43578600-43579200	Bivalent Enhancer	Fetal Stomach	stomach
15	chr10:43578600-43585400	Weak transcription	Gastric	stomach
16	chr10:43578800-43579000	Enhancers	H9 Cell Line	embryonic stem cell
17	chr10:43578800-43579000	Bivalent Enhancer	Adipose Nuclei	Adipose
18	chr10:43578800-43579600	Enhancers	Fetal Thymus	thymus
19	chr10:43579000-43579400	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr10:43579000-43580200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr10:43579000-43584200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr10:43579000-43585600	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr10:43579200-43579600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr10:43579200-43580600	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr10:43579400-43580000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr10:43579400-43580000	Enhancers	HSMM	muscle
27	chr10:43579600-43579800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr10:43579800-43580000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
29	chr10:43579800-43580400	Enhancers	Right Ventricle	heart
30	chr10:43579800-43580800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
31	chr10:43579800-43581000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr10:43580200-43580400	Bivalent Enhancer	Placenta	Placenta
33	chr10:43580200-43581000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr10:43580400-43580800	Bivalent Enhancer	Right Ventricle	heart
35	chr10:43580400-43581200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
36	chr10:43581000-43582600	Enhancers	Liver	Liver
37	chr10:43581000-43593000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr10:43581400-43582600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
39	chr10:43581600-43582600	Enhancers	Fetal Muscle Leg	muscle
40	chr10:43581800-43582600	Enhancers	HSMMtube	muscle
41	chr10:43582600-43582800	Enhancers	Fetal Muscle Trunk	muscle
42	chr10:43582800-43583400	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr10:43583400-43583600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
44	chr10:43583600-43584800	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr10:43584000-43584800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr10:43584200-43584800	Enhancers	H1 Cell Line	embryonic stem cell
47	chr10:43584200-43585200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr10:43584400-43586400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
49	chr10:43584800-43585200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
50	chr10:43584800-43588600	Weak transcription	HUES6 Cell Line	embryonic stem cell

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