Variant report

Variant	esv3387256
Chromosome Location	chr2:48782973-48785921
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 90 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:90 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372297095	chr2:48783621-48783622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs567813346	chr2:48783912-48783913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs535680617	chr2:48783929-48783930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557117572	chr2:48783933-48783934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575758867	chr2:48783934-48783935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs9711314	chr2:48783960-48783961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs376835361	chr2:48783966-48783967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs9711763	chr2:48784050-48784051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs113715880	chr2:48784054-48784055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs547175576	chr2:48784214-48784215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559370482	chr2:48784457-48784458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368923173	chr2:48784480-48784481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs56019357	chr2:48784483-48784484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs55987833	chr2:48784499-48784500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs56065509	chr2:48784506-48784507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs55867503	chr2:48784511-48784512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs60232780	chr2:48784513-48784514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs56167037	chr2:48784522-48784523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs56161323	chr2:48784524-48784525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs56244149	chr2:48784531-48784532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs56134565	chr2:48784532-48784533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559088805	chr2:48784533-48784534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs56376171	chr2:48784538-48784539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs56725777	chr2:48784552-48784553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs57293394	chr2:48784557-48784558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs55654324	chr2:48784564-48784565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs56237332	chr2:48784572-48784573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs532778792	chr2:48784615-48784616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs569012717	chr2:48784622-48784623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs369044542	chr2:48784649-48784650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs62135206	chr2:48784660-48784661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs62135207	chr2:48784667-48784668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540619184	chr2:48784777-48784778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562207888	chr2:48784784-48784785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574168801	chr2:48784810-48784811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544685776	chr2:48784821-48784822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563361178	chr2:48784855-48784856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs530686720	chr2:48784891-48784892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs552198016	chr2:48784898-48784899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567910063	chr2:48784923-48784924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs148920957	chr2:48784927-48784928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs538060557	chr2:48784951-48784952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528121178	chr2:48784954-48784955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550343609	chr2:48784958-48784959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs546166666	chr2:48785008-48785009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs182376280	chr2:48785027-48785028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528970842	chr2:48785084-48785085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs571446456	chr2:48785089-48785090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs13014891	chr2:48785122-48785123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs186904135	chr2:48785166-48785167	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:40 , 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	chr2:48779200-48787600	Weak transcription	Esophagus	oesophagus
24	chr2:48779200-48789800	Weak transcription	Ovary	ovary
25	chr2:48779400-48800200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr2:48780600-48793800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr2:48781200-48793000	Weak transcription	Colon Smooth Muscle	Colon
28	chr2:48781200-48793800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr2:48781400-48787400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr2:48781400-48787600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr2:48781400-48789800	Weak transcription	Fetal Stomach	stomach
32	chr2:48781800-48787400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr2:48781800-48789400	Weak transcription	Stomach Smooth Muscle	stomach
34	chr2:48784000-48787200	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr2:48785200-48785800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr2:48785400-48786000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr2:48785400-48788200	Enhancers	Fetal Muscle Leg	muscle
38	chr2:48785800-48786000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
39	chr2:48785800-48786000	Enhancers	Fetal Kidney	kidney
40	chr2:48785800-48786000	Enhancers	Right Atrium	heart

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