Variant report

Variant	nsv894949
Chromosome Location	chr10:22241988-22264558
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:31)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:31 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:22238836..22240855-chr10:22243838..22246285,2	K562	blood:
2	chr10:22253402..22255291-chr10:22257091..22258882,3	K562	blood:
3	chr10:22253402..22255291-chr10:22257091..22258882,3	K562	blood:
4	chr10:22263916..22265967-chr10:22612361..22613889,2	K562	blood:
5	chr10:22250502..22253425-chr10:22270615..22273488,2	MCF-7	breast:
6	chr10:22263971..22264471-chr11:62599329..62599830,2	NB4	blood:
7	chr10:22253374..22255077-chr10:22266745..22269672,2	MCF-7	breast:
8	chr10:22258910..22261897-chr10:22263811..22265897,2	K562	blood:
9	chr10:22253497..22257660-chr10:22263642..22266698,3	K562	blood:
10	chr10:22254542..22256403-chr10:22627418..22630191,2	MCF-7	breast:
11	chr10:22253754..22256487-chr10:22607279..22608984,2	MCF-7	breast:
12	chr10:22258903..22261616-chr10:22266301..22269258,3	K562	blood:
13	chr10:22236715..22238334-chr10:22247305..22250180,2	MCF-7	breast:
14	chr10:22021373..22022327-chr10:22242288..22243146,2	K562	blood:
15	chr10:21814767..21816695-chr10:22261629..22263190,2	MCF-7	breast:
16	chr10:22229594..22232374-chr10:22242414..22244452,2	K562	blood:
17	chr10:21927715..21928325-chr10:22242639..22243407,2	MCF-7	breast:
18	chr10:22263316..22265504-chr10:22603674..22605954,2	K562	blood:
19	chr10:22242968..22244990-chr10:22246695..22248467,2	K562	blood:
20	chr10:22242968..22244990-chr10:22246695..22248467,2	K562	blood:
21	chr10:22258838..22260755-chr10:23343217..23345858,2	K562	blood:
22	chr10:21784522..21785281-chr10:22242169..22242778,2	MCF-7	breast:
23	chr10:22252550..22254271-chr10:22609728..22611499,2	MCF-7	breast:
24	chr10:22233292..22234846-chr10:22241021..22243031,2	MCF-7	breast:
25	chr1:229794584..229795424-chr10:22242563..22243074,2	MCF-7	breast:
26	chr10:21813306..21818434-chr10:22241964..22245286,5	MCF-7	breast:
27	chr10:21817630..21819800-chr10:22242694..22244744,2	K562	blood:
28	chr10:22253497..22257660-chr10:22263642..22266698,3	K562	blood:
29	chr10:22244305..22247068-chr10:22628599..22631062,2	K562	blood:
30	chr10:22251092..22253424-chr10:23344303..23346023,2	K562	blood:
31	chr10:22258910..22261897-chr10:22263811..22265897,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000162236	chromatin interactions
ENSG00000256690	chromatin interactions
ENSG00000148444	chromatin interactions
ENSG00000168283	chromatin interactions
ENSG00000269897	chromatin interactions
ENSG00000180592	chromatin interactions
ENSG00000272366	chromatin interactions

Extended variants
information (count: 681 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:681 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2666776	chr10:22241988-22241989	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs369510005	chr10:22241992-22241993	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs539396598	chr10:22242041-22242042	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs535329436	chr10:22242090-22242091	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs187893565	chr10:22242136-22242137	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs553704994	chr10:22242145-22242146	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs575866592	chr10:22242188-22242189	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs541885904	chr10:22242264-22242265	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs561868898	chr10:22242392-22242393	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs570390657	chr10:22242473-22242474	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs572068185	chr10:22242499-22242500	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs375183325	chr10:22242513-22242514	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs564372785	chr10:22242523-22242524	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs533655891	chr10:22242529-22242530	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs371887847	chr10:22242535-22242536	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs367916328	chr10:22242576-22242577	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs550243320	chr10:22242590-22242591	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs563840732	chr10:22242593-22242594	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs529535595	chr10:22242609-22242610	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs192140325	chr10:22242651-22242652	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs376435075	chr10:22242742-22242743	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs12774434	chr10:22242774-22242775	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs369401176	chr10:22242775-22242776	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs201971993	chr10:22242781-22242782	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs184455701	chr10:22242844-22242845	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs527432844	chr10:22242892-22242893	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs547365059	chr10:22243032-22243033	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs146807902	chr10:22243068-22243069	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs2666754	chr10:22243072-22243073	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs539702561	chr10:22243095-22243096	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs189751301	chr10:22243096-22243097	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs569485042	chr10:22243098-22243099	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs191724106	chr10:22243166-22243167	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs555184013	chr10:22243215-22243216	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs572499860	chr10:22243225-22243226	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs76567001	chr10:22243227-22243228	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs541196054	chr10:22243328-22243329	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs536060167	chr10:22243369-22243370	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs558118759	chr10:22243384-22243385	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs577973380	chr10:22243400-22243401	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs544068300	chr10:22243402-22243403	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs563978159	chr10:22243434-22243435	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs112123287	chr10:22243437-22243438	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs376918940	chr10:22243473-22243474	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs75569963	chr10:22243480-22243481	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs543231011	chr10:22243492-22243493	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs184641038	chr10:22243499-22243500	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs76377079	chr10:22243573-22243574	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs16921965	chr10:22243592-22243593	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs564129062	chr10:22243639-22243640	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:42)

Disease	PMID	Source
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
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
small cell lung cancer	20016488	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21364760	CNVD
Glioblastoma multiforme	21525872	CNVD
Prostate cancer	18632612	CNVD
Cancer	17699850	CNVD
Ovarian cancer	17699850	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD

Chromatin state (count:179 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:22199600-22250800	Weak transcription	Pancreas	Pancrea
2	chr10:22232800-22243000	Weak transcription	Primary B cells from cord blood	blood
3	chr10:22233000-22242600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr10:22233000-22243000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr10:22233600-22242600	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr10:22233800-22245000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr10:22237200-22250800	Weak transcription	Left Ventricle	heart
8	chr10:22238000-22242400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr10:22238200-22250400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr10:22239800-22242800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr10:22240800-22244200	Enhancers	GM12878-XiMat	blood
12	chr10:22241400-22242200	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr10:22241400-22243000	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr10:22241600-22242400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr10:22241600-22243400	Weak transcription	A549	lung
16	chr10:22241600-22244800	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr10:22241800-22242800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr10:22241800-22245000	Weak transcription	Psoas Muscle	Psoas
19	chr10:22242200-22242800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr10:22242400-22242600	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr10:22242400-22242600	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr10:22242400-22243200	Enhancers	Primary T cells from cord blood	blood
23	chr10:22242400-22243800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr10:22242400-22244000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr10:22242600-22243400	Enhancers	Primary B cells from peripheral blood	blood
26	chr10:22242600-22243400	Enhancers	Primary hematopoietic stem cells	blood
27	chr10:22242600-22243400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr10:22242600-22243600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr10:22242600-22243600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
30	chr10:22242600-22244200	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr10:22242800-22243000	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr10:22242800-22243400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr10:22242800-22244000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr10:22242800-22244200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr10:22243000-22243200	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr10:22243000-22243800	Enhancers	Primary B cells from cord blood	blood
37	chr10:22243000-22244000	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr10:22243200-22243600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
39	chr10:22243200-22243800	Enhancers	Osteobl	bone
40	chr10:22243400-22243600	Enhancers	Stomach Smooth Muscle	stomach
41	chr10:22243400-22243800	Enhancers	A549	lung
42	chr10:22243400-22244600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr10:22243600-22244200	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr10:22243600-22245000	Weak transcription	Stomach Smooth Muscle	stomach
45	chr10:22243800-22244000	Enhancers	Right Ventricle	heart
46	chr10:22243800-22244800	Weak transcription	A549	lung
47	chr10:22244000-22244800	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr10:22244000-22250800	Weak transcription	Right Ventricle	heart
49	chr10:22244200-22244600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr10:22244400-22247400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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