Variant report

Variant	nsv963908
Chromosome Location	chr2:33547438-33552765
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	chr2:33546250..33548887-chr2:33557480..33559960,2	MCF-7	breast:
2	chr2:33549576..33552189-chr2:33559764..33561623,2	K562	blood:

Variant related genes	Relation type
ENSG00000252246	chromatin interactions

Extended variants
information (count: 256 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:256 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77022191	chr2:33547439-33547440	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs564760609	chr2:33547501-33547502	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs189329724	chr2:33547518-33547519	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs144201121	chr2:33547526-33547527	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs144287966	chr2:33547574-33547575	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs569749995	chr2:33547584-33547585	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs528946708	chr2:33547608-33547609	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs148733084	chr2:33547628-33547629	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs367631075	chr2:33547629-33547630	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs75643219	chr2:33547630-33547631	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs551311759	chr2:33547636-33547637	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs571163322	chr2:33547701-33547702	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs181742913	chr2:33547805-33547806	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs372212407	chr2:33547806-33547807	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs552916598	chr2:33547813-33547814	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs566874905	chr2:33547817-33547818	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs151293392	chr2:33547856-33547857	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs141728253	chr2:33547884-33547885	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs558263212	chr2:33547893-33547894	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs10175619	chr2:33547906-33547907	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs117120288	chr2:33547953-33547954	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs145700247	chr2:33547970-33547971	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs578239008	chr2:33548017-33548018	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs540247903	chr2:33548019-33548020	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs560063685	chr2:33548053-33548054	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs147743402	chr2:33548054-33548055	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs142011548	chr2:33548057-33548058	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs562442938	chr2:33548060-33548061	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs116830320	chr2:33548066-33548067	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs572671894	chr2:33548117-33548118	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs551121152	chr2:33548132-33548133	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs571224522	chr2:33548136-33548137	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs112577316	chr2:33548171-33548172	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs368302607	chr2:33548183-33548184	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs566890697	chr2:33548194-33548195	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs535471359	chr2:33548227-33548228	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs138473884	chr2:33548239-33548240	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs148842660	chr2:33548273-33548274	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs538447004	chr2:33548280-33548281	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs561451526	chr2:33548284-33548285	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs578254932	chr2:33548285-33548286	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs187343075	chr2:33548287-33548288	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs190966769	chr2:33548318-33548319	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs541602647	chr2:33548334-33548335	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs143485382	chr2:33548350-33548351	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs6737863	chr2:33548352-33548353	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs562612580	chr2:33548363-33548364	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs77327259	chr2:33548401-33548402	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs544827122	chr2:33548422-33548423	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs142548358	chr2:33548458-33548459	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
Breast cancer	22522925	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33523800-33550600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr2:33529800-33561000	Weak transcription	HUVEC	blood vessel
3	chr2:33529800-33609400	Weak transcription	Right Ventricle	heart
4	chr2:33540800-33580800	Weak transcription	Placenta	Placenta
5	chr2:33542000-33572200	Weak transcription	Liver	Liver
6	chr2:33544800-33548400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr2:33545000-33547600	Enhancers	Fetal Heart	heart
8	chr2:33545200-33549600	Weak transcription	Brain Substantia Nigra	brain
9	chr2:33545400-33547800	Enhancers	Adipose Nuclei	Adipose
10	chr2:33545400-33548400	Enhancers	Fetal Stomach	stomach
11	chr2:33545400-33551800	Weak transcription	Right Atrium	heart
12	chr2:33545600-33547600	Enhancers	Fetal Muscle Leg	muscle
13	chr2:33545600-33547800	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr2:33545600-33547800	Enhancers	HSMMtube	muscle
15	chr2:33545600-33548200	Enhancers	NHLF	lung
16	chr2:33545800-33547800	Enhancers	Fetal Lung	lung
17	chr2:33545800-33548200	Enhancers	Colon Smooth Muscle	Colon
18	chr2:33545800-33548200	Enhancers	Rectal Smooth Muscle	rectum
19	chr2:33545800-33548400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr2:33545800-33549200	Enhancers	Dnd41	blood
21	chr2:33546200-33548400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr2:33546400-33547600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr2:33546400-33547800	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr2:33546400-33547800	Enhancers	HSMM	muscle
25	chr2:33546600-33547600	Enhancers	Muscle Satellite Cultured Cells	--
26	chr2:33546600-33548000	Enhancers	Stomach Smooth Muscle	stomach
27	chr2:33546600-33548200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr2:33546800-33547600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:33546800-33547600	Enhancers	GM12878-XiMat	blood
30	chr2:33546800-33548000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr2:33546800-33549800	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr2:33547000-33547600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr2:33547000-33547600	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr2:33547000-33547800	Enhancers	Brain Angular Gyrus	brain
35	chr2:33547000-33548000	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr2:33547000-33549000	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr2:33547200-33547600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr2:33547200-33547600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr2:33547200-33547600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr2:33547200-33547600	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr2:33547200-33547800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr2:33547200-33547800	Enhancers	Brain Cingulate Gyrus	brain
43	chr2:33547200-33547800	Enhancers	Duodenum Mucosa	Duodenum
44	chr2:33547200-33547800	Enhancers	Pancreatic Islets	Pancreatic Islet
45	chr2:33547200-33548000	Flanking Active TSS	NHDF-Ad	bronchial
46	chr2:33547200-33548200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr2:33547200-33567200	Weak transcription	NH-A	brain
48	chr2:33547400-33547600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr2:33547400-33547600	Enhancers	Fetal Intestine Small	intestine
50	chr2:33547400-33547600	Enhancers	Osteobl	bone

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