Variant report

Variant	nsv963149
Chromosome Location	chr2:54914350-54920863
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:54902287..54904754-chr2:54917097..54919271,2	K562	blood:
2	chr2:54913674..54915874-chr2:54933513..54936238,2	K562	blood:
3	chr2:54783616..54785998-chr2:54916607..54919364,3	K562	blood:
4	chr2:54784126..54785998-chr2:54916607..54919364,2	K562	blood:

Variant related genes	Relation type
ENSG00000115306	chromatin interactions

Extended variants
information (count: 269 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:269 , 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	rs144257483	chr2:54914385-54914386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs76106109	chr2:54914436-54914437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs2941577	chr2:54914459-54914460	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs181610298	chr2:54914460-54914461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs184223513	chr2:54914511-54914512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs76322051	chr2:54914516-54914517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs563823948	chr2:54914559-54914560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs573802061	chr2:54914573-54914574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs74323251	chr2:54914581-54914582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs77228065	chr2:54914594-54914595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs531636014	chr2:54914611-54914612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs551736020	chr2:54914615-54914616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs558948205	chr2:54914631-54914632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs188878956	chr2:54914634-54914635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs546827449	chr2:54914652-54914653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs566638784	chr2:54914672-54914673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs13001809	chr2:54914702-54914703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs566079168	chr2:54914761-54914762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs548835045	chr2:54914774-54914775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs116172945	chr2:54914783-54914784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs148302024	chr2:54914800-54914801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs181291676	chr2:54914819-54914820	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs141558358	chr2:54914821-54914822	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs535383147	chr2:54914853-54914854	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs150911486	chr2:54914862-54914863	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555283857	chr2:54914866-54914867	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs139672995	chr2:54914900-54914901	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs573865409	chr2:54914901-54914902	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs543182980	chr2:54914903-54914904	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545749958	chr2:54914917-54914918	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs556415502	chr2:54914929-54914930	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576472671	chr2:54914936-54914937	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545118849	chr2:54914944-54914945	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559322207	chr2:54915008-54915009	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs6717369	chr2:54915044-54915045	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs375514476	chr2:54915054-54915055	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186346320	chr2:54915089-54915090	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560460492	chr2:54915139-54915140	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529138361	chr2:54915149-54915150	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs543622279	chr2:54915162-54915163	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs57623434	chr2:54915192-54915193	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs6705193	chr2:54915221-54915222	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs531392805	chr2:54915296-54915297	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs142993116	chr2:54915307-54915308	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs77334206	chr2:54915327-54915328	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs534241470	chr2:54915344-54915345	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs554069704	chr2:54915388-54915389	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs116999153	chr2:54915395-54915396	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536486893	chr2:54915396-54915397	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs146210711	chr2:54915407-54915408	Enhancers Weak transcription	n/a	n/a	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:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54903400-54915600	Weak transcription	Right Atrium	heart
2	chr2:54908000-54914800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:54908200-54914800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:54908800-54921400	Weak transcription	Lung	lung
5	chr2:54911000-54918600	Weak transcription	HepG2	liver
6	chr2:54911000-54919000	Weak transcription	Pancreas	Pancrea
7	chr2:54911200-54914800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr2:54914400-54915200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr2:54914400-54915400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:54914800-54915000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:54914800-54915000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr2:54914800-54915400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:54914800-54915600	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr2:54914800-54916200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:54915000-54915600	Enhancers	Primary T cells from cord blood	blood
16	chr2:54915200-54918800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr2:54915400-54918800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:54915600-54916000	Enhancers	Right Atrium	heart
19	chr2:54915600-54918800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr2:54915800-54916200	Enhancers	Stomach Mucosa	stomach
21	chr2:54916200-54919000	Weak transcription	Stomach Mucosa	stomach
22	chr2:54918600-54919400	Enhancers	Fetal Intestine Small	intestine
23	chr2:54918600-54919600	Enhancers	Fetal Intestine Large	intestine
24	chr2:54918600-54919600	Enhancers	HepG2	liver
25	chr2:54918600-54919600	Enhancers	K562	blood
26	chr2:54918800-54919400	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr2:54918800-54919400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr2:54918800-54919400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr2:54919000-54919200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr2:54919000-54919200	Enhancers	Stomach Mucosa	stomach
31	chr2:54919000-54919400	Enhancers	Gastric	stomach
32	chr2:54919000-54919600	Enhancers	Pancreas	Pancrea
33	chr2:54919400-54922400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr2:54919400-54924800	Weak transcription	Fetal Intestine Small	intestine
35	chr2:54919600-54921200	Weak transcription	HepG2	liver
36	chr2:54919600-54921400	Weak transcription	Fetal Intestine Large	intestine
37	chr2:54919800-54922800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr2:54919800-54925600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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