Variant report

Variant	nsv1004645
Chromosome Location	chr2:54686497-54718440
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:54711498..54713391-chr2:54714675..54717364,2	K562	blood:
2	chr2:54698509..54700460-chr2:54784442..54786453,2	MCF-7	breast:
3	chr2:54686513..54688620-chr2:54689845..54691769,2	MCF-7	breast:
4	chr2:54711498..54713391-chr2:54714675..54717364,2	K562	blood:
5	chr2:54682049..54684426-chr2:54689582..54692090,2	MCF-7	breast:
6	chr2:54699717..54702089-chr2:54703143..54705442,2	K562	blood:
7	chr2:54682033..54684449-chr2:54688583..54690442,2	MCF-7	breast:
8	chr17:57916060..57918497-chr2:54698560..54700070,2	MCF-7	breast:
9	chr2:54716343..54718706-chr2:54724549..54726688,2	MCF-7	breast:
10	chr2:54341619..54344136-chr2:54698378..54700154,2	MCF-7	breast:
11	chr2:54699717..54702089-chr2:54703143..54705442,2	K562	blood:
12	chr2:54686513..54688620-chr2:54689845..54691769,2	MCF-7	breast:
13	chr2:54715431..54717877-chr2:54722811..54726356,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000115306	chromatin interactions
ENSG00000170634	chromatin interactions

Extended variants
information (count: 1528 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:1528 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141429980	chr2:54686502-54686503	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs542298062	chr2:54686544-54686545	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs562122015	chr2:54686578-54686579	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs146999476	chr2:54686604-54686605	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs550966096	chr2:54686610-54686611	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs569160600	chr2:54686648-54686649	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs138207699	chr2:54686662-54686663	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs532414383	chr2:54686672-54686673	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs35098554	chr2:54686717-54686718	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs555168563	chr2:54686723-54686724	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs565859242	chr2:54686728-54686729	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs534479304	chr2:54686739-54686740	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs547986953	chr2:54686740-54686741	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs397781403	chr2:54686748-54686749	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs567789167	chr2:54686751-54686752	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs536767657	chr2:54686756-54686757	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs556526083	chr2:54686757-54686758	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs13399726	chr2:54686767-54686768	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs540120217	chr2:54686792-54686793	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs141721013	chr2:54686832-54686833	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs573489042	chr2:54686833-54686834	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs180945065	chr2:54686855-54686856	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs562288252	chr2:54686933-54686934	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs183611903	chr2:54686972-54686973	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs189478108	chr2:54686991-54686992	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs138697514	chr2:54687001-54687002	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs368798668	chr2:54687004-54687005	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs12615914	chr2:54687036-54687037	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs186759129	chr2:54687080-54687081	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs191714200	chr2:54687117-54687118	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs150567125	chr2:54687149-54687150	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs138792091	chr2:54687160-54687161	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs181323188	chr2:54687161-54687162	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs185824287	chr2:54687166-54687167	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs576626134	chr2:54687197-54687198	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs149385446	chr2:54687200-54687201	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs543613013	chr2:54687211-54687212	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs570415980	chr2:54687212-54687213	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs539020804	chr2:54687225-54687226	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs557546861	chr2:54687226-54687227	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs13026575	chr2:54687254-54687255	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs4671933	chr2:54687265-54687266	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs375601695	chr2:54687268-54687269	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs536170431	chr2:54687286-54687287	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs555981571	chr2:54687321-54687322	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs575957069	chr2:54687406-54687407	Enhancers Weak transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs190241509	chr2:54687407-54687408	Enhancers Weak transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs564385140	chr2:54687431-54687432	Enhancers Weak transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs578053401	chr2:54687443-54687444	Enhancers Weak transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs540235114	chr2:54687475-54687476	Enhancers Weak transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
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
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Lung cancer	17086460	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:1368 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54682200-54687000	Active TSS	Ovary	ovary
2	chr2:54682200-54687000	Active TSS	Psoas Muscle	Psoas
3	chr2:54682200-54687600	Active TSS	Right Atrium	heart
4	chr2:54682600-54686600	Active TSS	Lung	lung
5	chr2:54683000-54688800	Active TSS	HSMMtube	muscle
6	chr2:54684600-54687000	Flanking Active TSS	Adipose Nuclei	Adipose
7	chr2:54684800-54686600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr2:54684800-54686600	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
9	chr2:54685000-54686600	Flanking Active TSS	HUVEC	blood vessel
10	chr2:54685200-54686600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:54685200-54686600	Flanking Active TSS	Fetal Heart	heart
12	chr2:54685200-54687600	Weak transcription	Spleen	Spleen
13	chr2:54685200-54690200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:54685200-54690400	Weak transcription	Pancreas	Pancrea
15	chr2:54685200-54694600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:54685200-54696600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr2:54685400-54686600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr2:54685400-54686600	Flanking Active TSS	Brain Cingulate Gyrus	brain
19	chr2:54685400-54686600	Flanking Active TSS	Colon Smooth Muscle	Colon
20	chr2:54685400-54686600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
21	chr2:54685400-54686600	Flanking Active TSS	HepG2	liver
22	chr2:54685400-54687000	Enhancers	Primary hematopoietic stem cells	blood
23	chr2:54685400-54687000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr2:54685400-54687000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr2:54685400-54687000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr2:54685400-54687200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:54685400-54696600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr2:54685600-54686600	Flanking Active TSS	Fetal Muscle Leg	muscle
29	chr2:54685600-54686600	Enhancers	HMEC	breast
30	chr2:54685600-54686800	Flanking Active TSS	Brain Angular Gyrus	brain
31	chr2:54685600-54686800	Flanking Active TSS	Fetal Lung	lung
32	chr2:54685600-54687000	Flanking Active TSS	Brain Anterior Caudate	brain
33	chr2:54685600-54688600	Weak transcription	Liver	Liver
34	chr2:54685800-54686600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr2:54685800-54686600	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr2:54685800-54686600	Flanking Active TSS	Brain Germinal Matrix	brain
37	chr2:54685800-54686600	Flanking Active TSS	Rectal Smooth Muscle	rectum
38	chr2:54685800-54686600	Enhancers	Osteobl	bone
39	chr2:54685800-54687000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
40	chr2:54685800-54687200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr2:54686000-54686600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr2:54686000-54687200	Enhancers	A549	lung
43	chr2:54686200-54686600	Enhancers	H9 Cell Line	embryonic stem cell
44	chr2:54686200-54686600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr2:54686200-54686600	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr2:54686200-54686600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
47	chr2:54686200-54686600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr2:54686200-54686600	Flanking Active TSS	Left Ventricle	heart
49	chr2:54686200-54686600	Enhancers	Placenta Amnion	Placenta Amnion
50	chr2:54686200-54686600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle

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