Variant report

Variant	nsv947890
Chromosome Location	chr10:43290003-43299039
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:43291912..43294159-chr10:43296262..43298525,2	K562	blood:
2	chr10:43285592..43290643-chr10:43292360..43294489,4	K562	blood:
3	chr10:43276828..43279728-chr10:43292956..43295036,2	MCF-7	breast:
4	chr10:43292432..43295311-chr10:43296307..43298120,2	MCF-7	breast:
5	chr10:43291799..43294495-chr10:43296598..43299321,2	MCF-7	breast:
6	chr10:43285411..43287004-chr10:43291005..43292621,2	K562	blood:
7	chr10:43277379..43280402-chr10:43288985..43292909,5	MCF-7	breast:
8	chr10:43283711..43286231-chr10:43299028..43301664,2	K562	blood:
9	chr10:43286994..43289477-chr10:43294510..43296751,2	MCF-7	breast:
10	chr10:43277427..43280552-chr10:43294891..43296896,3	K562	blood:
11	chr10:43291799..43294495-chr10:43296598..43299321,2	MCF-7	breast:
12	chr10:43291912..43294159-chr10:43296262..43298525,2	K562	blood:
13	chr10:43292432..43295311-chr10:43296307..43298120,2	MCF-7	breast:
14	chr10:43276431..43278921-chr10:43290157..43292968,2	K562	blood:
15	chr10:43278278..43279935-chr10:43297692..43300575,2	K562	blood:
16	chr10:43287294..43289602-chr10:43294220..43295848,2	K562	blood:
17	chr10:43285592..43290643-chr10:43292360..43294489,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000165733	chromatin interactions

Extended variants
information (count: 346 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:346 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186336568	chr10:43290022-43290023	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs386743148	chr10:43290024-43290025	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs12259286	chr10:43290025-43290026	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs185304210	chr10:43290057-43290058	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs190265089	chr10:43290066-43290067	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs563154590	chr10:43290069-43290070	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs534463562	chr10:43290070-43290071	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs552913370	chr10:43290075-43290076	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs577834512	chr10:43290112-43290113	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs183641991	chr10:43290155-43290156	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs557303250	chr10:43290196-43290197	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs200428735	chr10:43290212-43290213	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs72782041	chr10:43290214-43290215	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs188478966	chr10:43290307-43290308	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs561328161	chr10:43290328-43290329	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs113863444	chr10:43290339-43290340	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs540796168	chr10:43290364-43290365	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs557539898	chr10:43290399-43290400	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs7093245	chr10:43290480-43290481	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs386743149	chr10:43290545-43290546	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs7082460	chr10:43290546-43290547	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs562933497	chr10:43290559-43290560	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs9422449	chr10:43290581-43290582	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs7093395	chr10:43290583-43290584	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs7082596	chr10:43290600-43290601	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs550074502	chr10:43290625-43290626	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs534426927	chr10:43290676-43290677	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs546758667	chr10:43290739-43290740	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs529595698	chr10:43290776-43290777	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs76998695	chr10:43290785-43290786	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs80133814	chr10:43290786-43290787	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs811505	chr10:43290824-43290825	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs571381661	chr10:43290899-43290900	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs76442804	chr10:43290933-43290934	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs78434298	chr10:43290936-43290937	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs538922061	chr10:43290938-43290939	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs116424869	chr10:43290952-43290953	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs148098784	chr10:43290976-43290977	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs141834600	chr10:43290995-43290996	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs193236016	chr10:43291011-43291012	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs573343547	chr10:43291019-43291020	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs569609111	chr10:43291027-43291028	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs7898266	chr10:43291095-43291096	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs376627709	chr10:43291114-43291115	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs565470462	chr10:43291127-43291128	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs577402551	chr10:43291131-43291132	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs183696599	chr10:43291147-43291148	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs368919819	chr10:43291178-43291179	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs12773638	chr10:43291195-43291196	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs187914295	chr10:43291209-43291210	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	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
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:227 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43279000-43292000	Weak transcription	Stomach Mucosa	stomach
2	chr10:43279200-43292800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr10:43279400-43292600	Weak transcription	Fetal Heart	heart
4	chr10:43279800-43299400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr10:43279800-43299600	Strong transcription	Fetal Muscle Leg	muscle
6	chr10:43279800-43299600	Strong transcription	Left Ventricle	heart
7	chr10:43279800-43299600	Strong transcription	K562	blood
8	chr10:43279800-43299800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr10:43279800-43300200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr10:43279800-43300600	Strong transcription	NH-A	brain
11	chr10:43279800-43302000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr10:43279800-43302600	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr10:43279800-43303400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr10:43279800-43303400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr10:43279800-43303400	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr10:43279800-43303800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
17	chr10:43279800-43303800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr10:43279800-43305000	Strong transcription	Primary B cells from peripheral blood	blood
19	chr10:43279800-43306200	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr10:43279800-43306400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr10:43279800-43307600	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr10:43279800-43307800	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr10:43279800-43307800	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr10:43279800-43308400	Strong transcription	Fetal Intestine Large	intestine
25	chr10:43279800-43308800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr10:43279800-43309000	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr10:43279800-43324000	Strong transcription	Liver	Liver
28	chr10:43279800-43328200	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr10:43280000-43290200	Strong transcription	Brain Anterior Caudate	brain
30	chr10:43280000-43297800	Strong transcription	Fetal Lung	lung
31	chr10:43280000-43299400	Strong transcription	Brain Germinal Matrix	brain
32	chr10:43280000-43299800	Strong transcription	H1 Cell Line	embryonic stem cell
33	chr10:43280000-43299800	Strong transcription	Duodenum Mucosa	Duodenum
34	chr10:43280000-43300000	Strong transcription	Fetal Thymus	thymus
35	chr10:43280000-43300200	Strong transcription	Adipose Nuclei	Adipose
36	chr10:43280000-43301600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr10:43280000-43301800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr10:43280000-43301800	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr10:43280000-43303200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr10:43280000-43303600	Strong transcription	Rectal Mucosa Donor 31	rectum
41	chr10:43280000-43303600	Strong transcription	HSMM	muscle
42	chr10:43280000-43303600	Strong transcription	Osteobl	bone
43	chr10:43280000-43303800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr10:43280000-43304600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr10:43280000-43305000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr10:43280000-43305800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr10:43280000-43306400	Strong transcription	Placenta	Placenta
48	chr10:43280000-43306400	Strong transcription	A549	lung
49	chr10:43280000-43306800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr10:43280000-43309600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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