Variant report

Variant	nsv527492
Chromosome Location	chr2:38753337-38759797
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:38748763..38750578-chr2:38752263..38755021,2	K562	blood:
2	chr2:38756770..38758760-chr2:38767027..38769567,2	K562	blood:
3	chr2:38759515..38762169-chr2:38765133..38766792,2	K562	blood:
4	chr2:38754284..38759029-chr2:38759211..38765156,5	MCF-7	breast:
5	chr2:38755957..38757511-chr2:38974034..38976251,2	K562	blood:
6	chr2:38740787..38742664-chr2:38753203..38755236,2	MCF-7	breast:
7	chr2:38753350..38754887-chr2:38758237..38760009,2	K562	blood:
8	chr2:38754116..38756013-chr2:38969900..38972568,2	K562	blood:
9	chr2:38753350..38754887-chr2:38758237..38760009,2	K562	blood:
10	chr2:38602800..38605061-chr2:38754455..38756764,2	K562	blood:
11	chr2:38754021..38756013-chr2:38969685..38972568,2	K562	blood:
12	chr2:38755204..38757629-chr2:38975838..38979499,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000115875	chromatin interactions
ENSG00000271443	chromatin interactions
ENSG00000152147	chromatin interactions
ENSG00000119787	chromatin interactions

Extended variants
information (count: 293 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:293 , 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	rs7606376	chr2:38753337-38753338	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs552640258	chr2:38753382-38753383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs71402232	chr2:38753447-38753448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs563400445	chr2:38753454-38753455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs34311924	chr2:38753462-38753463	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs549178079	chr2:38753471-38753472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs561011001	chr2:38753476-38753477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs562059363	chr2:38753489-38753490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs12622920	chr2:38753514-38753515	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs566122086	chr2:38753641-38753642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs190983161	chr2:38753668-38753669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs551535308	chr2:38753816-38753817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs182880790	chr2:38753827-38753828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs147172096	chr2:38753851-38753852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs555960187	chr2:38753855-38753856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs573971660	chr2:38753860-38753861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs369417653	chr2:38753861-38753862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs569203887	chr2:38753895-38753896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs376469018	chr2:38753905-38753906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs368215588	chr2:38753910-38753911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs535030380	chr2:38753970-38753971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs552540595	chr2:38753975-38753976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs55758616	chr2:38753991-38753992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs577177491	chr2:38753997-38753998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs545011957	chr2:38754054-38754055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs202033481	chr2:38754055-38754056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs71394304	chr2:38754058-38754059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs60986164	chr2:38754063-38754064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs113245705	chr2:38754064-38754065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs12993657	chr2:38754071-38754072	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs575333196	chr2:38754108-38754109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs557792075	chr2:38754131-38754132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs187558741	chr2:38754169-38754170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs149253246	chr2:38754180-38754181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs192677892	chr2:38754186-38754187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs546878747	chr2:38754198-38754199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs565179082	chr2:38754204-38754205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs533334361	chr2:38754206-38754207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs184622674	chr2:38754233-38754234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs535716808	chr2:38754244-38754245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs144435859	chr2:38754281-38754282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs537577819	chr2:38754298-38754299	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs148493607	chr2:38754303-38754304	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs187487039	chr2:38754321-38754322	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs386645136	chr2:38754338-38754339	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs116226273	chr2:38754339-38754340	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs144150788	chr2:38754389-38754390	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs146020493	chr2:38754414-38754415	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs192153739	chr2:38754429-38754430	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs575246280	chr2:38754430-38754431	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
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
Non-small cell lung cancer	18927303	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	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
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:282 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:38745000-38753400	Weak transcription	Colon Smooth Muscle	Colon
2	chr2:38750600-38753400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr2:38750800-38755200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:38750800-38755400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:38751000-38755000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:38751000-38755000	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr2:38751000-38755000	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr2:38751200-38755000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:38751200-38762400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:38751800-38754800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:38751800-38755200	Weak transcription	Aorta	Aorta
12	chr2:38751800-38755200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr2:38752200-38755000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr2:38752200-38755000	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr2:38752200-38755000	Weak transcription	Fetal Muscle Leg	muscle
16	chr2:38752200-38755000	Weak transcription	Psoas Muscle	Psoas
17	chr2:38752200-38755200	Weak transcription	Primary B cells from cord blood	blood
18	chr2:38752200-38755200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr2:38752200-38755400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr2:38752200-38760200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr2:38752400-38753400	Weak transcription	Ovary	ovary
22	chr2:38752400-38753400	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr2:38752400-38755000	Weak transcription	Fetal Muscle Trunk	muscle
24	chr2:38752400-38755000	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr2:38752600-38753400	Enhancers	NHDF-Ad	bronchial
26	chr2:38752600-38754400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr2:38752600-38754800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:38752800-38754600	Weak transcription	NHLF	lung
29	chr2:38753000-38753400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr2:38753000-38753400	Weak transcription	Stomach Smooth Muscle	stomach
31	chr2:38753000-38753800	Enhancers	Osteobl	bone
32	chr2:38753000-38754000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:38753200-38753400	Weak transcription	Adipose Nuclei	Adipose
34	chr2:38753400-38753600	Enhancers	Stomach Smooth Muscle	stomach
35	chr2:38753400-38753600	Enhancers	A549	lung
36	chr2:38753400-38753800	Enhancers	Colon Smooth Muscle	Colon
37	chr2:38753400-38753800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr2:38753400-38753800	Enhancers	Ovary	ovary
39	chr2:38753400-38753800	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr2:38753400-38754000	Enhancers	HepG2	liver
41	chr2:38753400-38754400	Enhancers	Adipose Nuclei	Adipose
42	chr2:38753400-38754800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr2:38753400-38755000	Weak transcription	NHDF-Ad	bronchial
44	chr2:38753600-38753800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr2:38753600-38753800	Enhancers	Liver	Liver
46	chr2:38753600-38754600	Weak transcription	A549	lung
47	chr2:38753600-38755000	Weak transcription	Stomach Smooth Muscle	stomach
48	chr2:38753800-38754600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr2:38753800-38754600	Weak transcription	Colon Smooth Muscle	Colon
50	chr2:38753800-38754800	Weak transcription	Skeletal Muscle Male	skeletal muscle

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