Variant report

Variant	nsv582025
Chromosome Location	chr2:54960680-54973834
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:54951102..54952793-chr2:54959664..54961967,2	K562	blood:
2	chr2:54964880..54967321-chr2:54967947..54972179,4	K562	blood:
3	chr2:54964880..54967321-chr2:54967947..54972179,4	K562	blood:
4	chr2:54969183..54970836-chr2:54972425..54974786,2	K562	blood:
5	chr2:54964880..54967279-chr2:54967947..54971334,3	K562	blood:
6	chr2:54967853..54970836-chr2:54972194..54974786,3	K562	blood:
7	chr2:54967853..54970836-chr2:54972194..54974786,3	K562	blood:
8	chr2:54964880..54967279-chr2:54967947..54971334,3	K562	blood:
9	chr2:54969183..54970836-chr2:54972425..54974786,2	K562	blood:
10	chr2:54951102..54953008-chr2:54959664..54962831,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000214595	chromatin interactions

Extended variants
information (count: 496 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:496 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13428703	chr2:54960680-54960681	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs377464728	chr2:54960690-54960691	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs550752860	chr2:54960697-54960698	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs183977835	chr2:54960703-54960704	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs72913538	chr2:54960710-54960711	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs552531013	chr2:54960780-54960781	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs565957866	chr2:54960784-54960785	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs113514485	chr2:54960828-54960829	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs188572160	chr2:54960883-54960884	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs193108710	chr2:54960898-54960899	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs72913540	chr2:54960915-54960916	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs150181232	chr2:54960928-54960929	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs368225238	chr2:54960955-54960956	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs370466891	chr2:54960964-54960965	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs570848464	chr2:54960980-54960981	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs139615387	chr2:54960983-54960984	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs539025870	chr2:54960990-54960991	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs184827152	chr2:54961009-54961010	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs552525855	chr2:54961038-54961039	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs13004486	chr2:54961048-54961049	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs72913543	chr2:54961074-54961075	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs537944420	chr2:54961095-54961096	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs187055182	chr2:54961139-54961140	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs552805237	chr2:54961160-54961161	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs544730000	chr2:54961169-54961170	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs138727241	chr2:54961199-54961200	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs553115488	chr2:54961203-54961204	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs573256373	chr2:54961208-54961209	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs533391218	chr2:54961227-54961228	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs367800010	chr2:54961269-54961270	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs11888644	chr2:54961272-54961273	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs145907094	chr2:54961331-54961332	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs374839370	chr2:54961332-54961333	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs368877034	chr2:54961337-54961338	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs35197299	chr2:54961342-54961343	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs568287113	chr2:54961344-54961345	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs536838567	chr2:54961380-54961381	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs550680075	chr2:54961433-54961434	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs374456857	chr2:54961525-54961526	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs570235595	chr2:54961528-54961529	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs13432101	chr2:54961538-54961539	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs72913547	chr2:54961555-54961556	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs566088169	chr2:54961581-54961582	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs536194232	chr2:54961589-54961590	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs112672319	chr2:54961596-54961597	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs138400551	chr2:54961608-54961609	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs191479622	chr2:54961641-54961642	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs558353935	chr2:54961661-54961662	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs578154926	chr2:54961692-54961693	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs540690178	chr2:54961697-54961698	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Lung adenocarcinoma	17086460	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
Developmental delay	21147756	CNVD
Mental retardation	19951919	CNVD
Myelofibrosis	22110671	CNVD
Microcephaly	20799320	CNVD
camptodactyly	20799320	CNVD
cognitive delay	20799320	CNVD
prenatal and postnatal growth deficiency	20799320	CNVD
ptosis of eyelids	20799320	CNVD
Maculopathy	20981449	CNVD
2p16.1 microdeletion syndrome	22283845	CNVD
Autism	22579565	CNVD
Autism	16963482	CNVD
Autism	21750575	CNVD
idiopathic intellectual disability	16963482	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54954600-54965000	Weak transcription	Fetal Intestine Small	intestine
2	chr2:54956800-54964800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:54956800-54964800	Weak transcription	HepG2	liver
4	chr2:54962200-54962400	Enhancers	Fetal Stomach	stomach
5	chr2:54962600-54963400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr2:54963000-54963200	Enhancers	Aorta	Aorta
7	chr2:54963200-54965800	Weak transcription	Aorta	Aorta
8	chr2:54964800-54965000	Weak transcription	Brain Anterior Caudate	brain
9	chr2:54964800-54965200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:54964800-54965400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:54964800-54967200	Enhancers	Pancreas	Pancrea
12	chr2:54964800-54969600	Enhancers	HepG2	liver
13	chr2:54965000-54965200	Enhancers	Brain Anterior Caudate	brain
14	chr2:54965000-54965200	Enhancers	Fetal Intestine Small	intestine
15	chr2:54965000-54965400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:54965200-54966000	Weak transcription	Fetal Intestine Small	intestine
17	chr2:54966000-54968400	Enhancers	Fetal Intestine Small	intestine
18	chr2:54967200-54968400	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr2:54967200-54977200	Weak transcription	Pancreas	Pancrea
20	chr2:54967400-54967600	Enhancers	Fetal Kidney	kidney
21	chr2:54967600-54968200	Weak transcription	Fetal Kidney	kidney
22	chr2:54968200-54968400	Enhancers	Fetal Kidney	kidney
23	chr2:54968200-54969200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:54968400-54969200	Weak transcription	Fetal Kidney	kidney
25	chr2:54968400-54969200	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr2:54969200-54969400	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr2:54969200-54969600	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr2:54969200-54969800	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr2:54969200-54971400	Enhancers	Fetal Kidney	kidney
30	chr2:54969400-54969800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr2:54969400-54969800	Enhancers	Gastric	stomach
32	chr2:54969400-54972800	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr2:54969600-54975400	Weak transcription	HepG2	liver
34	chr2:54969800-54970200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr2:54969800-54970200	Weak transcription	Gastric	stomach
36	chr2:54970200-54970400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr2:54970200-54970400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr2:54970200-54970400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr2:54970200-54970400	Enhancers	Gastric	stomach
40	chr2:54970400-54973000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr2:54970400-54974800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr2:54970400-54975600	Weak transcription	Gastric	stomach
43	chr2:54971000-54971400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr2:54971000-54971800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:54971200-54971800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr2:54971800-54974000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr2:54973000-54973200	Enhancers	Pancreatic Islets	Pancreatic Islet
48	chr2:54973200-54973400	Enhancers	Sigmoid Colon	Sigmoid Colon

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