Variant report

Variant	esv2631205
Chromosome Location	chr2:48781242-48785811
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 138 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:138 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191786003	chr2:48781268-48781269	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs563599298	chr2:48781273-48781274	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs530853508	chr2:48781294-48781295	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs545874258	chr2:48781312-48781313	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs564631891	chr2:48781314-48781315	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs562704026	chr2:48781375-48781376	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs115050562	chr2:48781383-48781384	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs547035657	chr2:48781390-48781391	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs112504288	chr2:48781391-48781392	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs529865727	chr2:48781412-48781413	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs548510435	chr2:48781417-48781418	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs188821892	chr2:48781430-48781431	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs375684211	chr2:48781436-48781437	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs551873266	chr2:48781443-48781444	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs570395523	chr2:48781452-48781453	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs534442784	chr2:48781475-48781476	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs552603751	chr2:48781505-48781506	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs574703145	chr2:48781536-48781537	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs112115297	chr2:48781562-48781563	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs535644987	chr2:48781573-48781574	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs190902521	chr2:48781611-48781612	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs141055140	chr2:48781613-48781614	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs28542636	chr2:48781619-48781620	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs531420110	chr2:48781709-48781710	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs546212555	chr2:48781712-48781713	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs144839041	chr2:48781726-48781727	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs543561513	chr2:48781760-48781761	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs368744501	chr2:48781813-48781814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376470992	chr2:48781853-48781854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs369716812	chr2:48781861-48781862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201057535	chr2:48781864-48781865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370476783	chr2:48781865-48781866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113938075	chr2:48781881-48781882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs367682999	chr2:48781891-48781892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs370250863	chr2:48781909-48781910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs373949893	chr2:48781934-48781935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113234263	chr2:48781962-48781963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540732237	chr2:48781982-48781983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562121888	chr2:48782041-48782042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs55662106	chr2:48782078-48782079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200747119	chr2:48782173-48782174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547451410	chr2:48782281-48782282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548399441	chr2:48782287-48782288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs371678953	chr2:48782292-48782293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs562013562	chr2:48782452-48782453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529179336	chr2:48782464-48782465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375081239	chr2:48782486-48782487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563611904	chr2:48782522-48782523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530732744	chr2:48782560-48782561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552421481	chr2:48782611-48782612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Melanoma	20877625	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48759000-48787000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr2:48759000-48787400	Weak transcription	Psoas Muscle	Psoas
3	chr2:48759000-48827600	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr2:48759200-48793200	Weak transcription	Fetal Lung	lung
5	chr2:48767200-48807800	Weak transcription	Aorta	Aorta
6	chr2:48768000-48787600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:48768000-48793800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:48772600-48788000	Weak transcription	Lung	lung
9	chr2:48772800-48787400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr2:48772800-48787600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:48773000-48785400	Weak transcription	Fetal Muscle Leg	muscle
12	chr2:48773000-48787200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr2:48773000-48808800	Weak transcription	Right Ventricle	heart
14	chr2:48773600-48787600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr2:48774800-48786400	Weak transcription	Left Ventricle	heart
16	chr2:48775400-48787400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr2:48775800-48793600	Weak transcription	Placenta	Placenta
18	chr2:48776400-48786000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr2:48776600-48786800	Weak transcription	Rectal Smooth Muscle	rectum
20	chr2:48776600-48794000	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr2:48777200-48807800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:48779000-48785400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:48779200-48781400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:48779200-48787600	Weak transcription	Esophagus	oesophagus
25	chr2:48779200-48789800	Weak transcription	Ovary	ovary
26	chr2:48779400-48800200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr2:48780000-48781800	Enhancers	Stomach Smooth Muscle	stomach
28	chr2:48780600-48793800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr2:48781000-48781400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr2:48781000-48781400	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr2:48781000-48781400	Strong transcription	Fetal Stomach	stomach
32	chr2:48781200-48793000	Weak transcription	Colon Smooth Muscle	Colon
33	chr2:48781200-48793800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr2:48781400-48781800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr2:48781400-48787400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr2:48781400-48787600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr2:48781400-48789800	Weak transcription	Fetal Stomach	stomach
38	chr2:48781800-48787400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr2:48781800-48789400	Weak transcription	Stomach Smooth Muscle	stomach
40	chr2:48784000-48787200	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr2:48785200-48785800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr2:48785400-48786000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr2:48785400-48788200	Enhancers	Fetal Muscle Leg	muscle
44	chr2:48785800-48786000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
45	chr2:48785800-48786000	Enhancers	Fetal Kidney	kidney
46	chr2:48785800-48786000	Enhancers	Right Atrium	heart

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