Variant report

Variant	esv3343616
Chromosome Location	chr2:48644143-48644615
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:48540493..48542753-chr2:48643021..48644548,2	K562	blood:
2	chr2:48337553..48343006-chr2:48644200..48649231,9	MCF-7	breast:
3	chr2:48336673..48339163-chr2:48642028..48644836,2	K562	blood:
4	chr2:48641901..48644739-chr2:48646186..48647771,2	K562	blood:
5	chr2:48643733..48645696-chr2:48650632..48652708,2	K562	blood:

Variant related genes	Relation type
ENSG00000170802	chromatin interactions

Extended variants
information (count: 25 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561180908	chr2:48644180-48644181	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs181910407	chr2:48644205-48644206	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs374033003	chr2:48644224-48644225	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs60062697	chr2:48644262-48644263	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs58817059	chr2:48644264-48644265	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs397984524	chr2:48644266-48644267	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs58504942	chr2:48644267-48644268	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs549697897	chr2:48644269-48644270	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs17397442	chr2:48644275-48644276	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs186396805	chr2:48644286-48644287	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs546941771	chr2:48644292-48644293	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs142009087	chr2:48644298-48644299	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs377713860	chr2:48644301-48644302	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs115146644	chr2:48644331-48644332	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs17397449	chr2:48644342-48644343	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs550888517	chr2:48644353-48644354	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs537233824	chr2:48644379-48644380	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs76683524	chr2:48644387-48644388	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs577587305	chr2:48644408-48644409	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs535022972	chr2:48644452-48644453	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs369364932	chr2:48644539-48644540	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs543222859	chr2:48644566-48644567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs553440775	chr2:48644577-48644578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs538416958	chr2:48644602-48644603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs574736320	chr2:48644608-48644609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
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
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
small cell lung cancer	20016488	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
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20433910	CNVD
Autism	21701786	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Austim spectrum disorder	21302340	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	20553308	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	18940311	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18945720	CNVD
Schizophrenia	19571808	CNVD
Prostate cancer	16573809	CNVD
Neuroticism	17667963	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19546859	CNVD
Autism	17322880	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
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48639600-48645200	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr2:48639600-48647400	Enhancers	Liver	Liver
3	chr2:48640000-48646200	Enhancers	Fetal Intestine Small	intestine
4	chr2:48640400-48647600	Weak transcription	Colon Smooth Muscle	Colon
5	chr2:48640400-48647600	Weak transcription	Ovary	ovary
6	chr2:48640600-48647800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr2:48641000-48647400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr2:48642400-48644800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr2:48642400-48647600	Weak transcription	Pancreas	Pancrea
10	chr2:48642600-48644600	Enhancers	Brain Substantia Nigra	brain
11	chr2:48642600-48645200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:48642800-48647400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:48642800-48647400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr2:48642800-48647400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr2:48642800-48647400	Weak transcription	NH-A	brain
16	chr2:48642800-48647600	Weak transcription	Osteobl	bone
17	chr2:48643000-48644400	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr2:48643000-48646200	Weak transcription	Spleen	Spleen
19	chr2:48643000-48647200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr2:48643000-48647600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr2:48643000-48647600	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr2:48643000-48647600	Weak transcription	NHLF	lung
23	chr2:48643200-48644800	Enhancers	Brain Cingulate Gyrus	brain
24	chr2:48643200-48647400	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr2:48643200-48647600	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr2:48643200-48647600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr2:48643200-48647800	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr2:48643400-48644400	Enhancers	Brain Anterior Caudate	brain
29	chr2:48643400-48647000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr2:48643400-48647000	Enhancers	Brain Hippocampus Middle	brain
31	chr2:48643400-48647600	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr2:48643400-48647800	Weak transcription	Fetal Kidney	kidney
33	chr2:48643600-48644200	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr2:48643600-48644600	Weak transcription	Fetal Intestine Large	intestine
35	chr2:48643600-48644600	Weak transcription	Fetal Thymus	thymus
36	chr2:48643600-48644600	Weak transcription	Dnd41	blood
37	chr2:48643600-48644800	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr2:48643600-48645000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr2:48643600-48645000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr2:48643600-48645200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr2:48643600-48645400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr2:48643600-48645600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr2:48643600-48646600	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr2:48643600-48646800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr2:48643600-48646800	Weak transcription	HMEC	breast
46	chr2:48643600-48647000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr2:48643600-48647000	Weak transcription	Fetal Muscle Trunk	muscle
48	chr2:48643600-48647000	Weak transcription	Placenta	Placenta
49	chr2:48643600-48647000	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr2:48643600-48647000	Weak transcription	Right Atrium	heart

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