Variant report

Variant	nsv581772
Chromosome Location	chr2:47874713-47892526
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:47857552..47860934-chr2:47879482..47882207,3	MCF-7	breast:
2	chr2:47875863..47878588-chr2:47880376..47882321,2	K562	blood:
3	chr2:47870236..47872064-chr2:47875763..47877751,2	MCF-7	breast:
4	chr2:47884888..47886655-chr2:47887485..47889434,2	MCF-7	breast:
5	chr2:47868722..47870543-chr2:47880865..47882714,2	MCF-7	breast:
6	chr2:47875863..47878588-chr2:47880376..47882321,2	K562	blood:
7	chr2:47664218..47664733-chr2:47891727..47892554,2	MCF-7	breast:
8	chr2:47891704..47892615-chr2:47994816..47995721,2	MCF-7	breast:
9	chr2:47869998..47872248-chr2:47882024..47884309,2	K562	blood:
10	chr2:47884888..47886655-chr2:47887485..47889434,2	MCF-7	breast:

No data

Extended variants
information (count: 875 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:875 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1574380	chr2:47874713-47874714	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs554175077	chr2:47874747-47874748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs566399433	chr2:47874757-47874758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs143221934	chr2:47874766-47874767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs566183800	chr2:47874775-47874776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs2348097	chr2:47874835-47874836	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs576603129	chr2:47874858-47874859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537651123	chr2:47874869-47874870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs34673844	chr2:47874871-47874872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556015036	chr2:47874878-47874879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs147500208	chr2:47874900-47874901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs529189420	chr2:47874907-47874908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191545010	chr2:47874942-47874943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs72815879	chr2:47874945-47874946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs115720747	chr2:47874956-47874957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs2091750	chr2:47874961-47874962	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs560839421	chr2:47874965-47874966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs531452287	chr2:47874983-47874984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183701919	chr2:47875011-47875012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538343136	chr2:47875049-47875050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565267890	chr2:47875063-47875064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546013127	chr2:47875074-47875075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs72875007	chr2:47875078-47875079	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs547816129	chr2:47875079-47875080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573201135	chr2:47875093-47875094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs188087366	chr2:47875144-47875145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536639218	chr2:47875152-47875153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs182293889	chr2:47875178-47875179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs115263509	chr2:47875202-47875203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537283657	chr2:47875217-47875218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs141880517	chr2:47875276-47875277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577685312	chr2:47875286-47875287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538298152	chr2:47875299-47875300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs80264731	chr2:47875342-47875343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs571745741	chr2:47875346-47875347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548136141	chr2:47875373-47875374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542212440	chr2:47875403-47875404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200603528	chr2:47875454-47875455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs561053098	chr2:47875460-47875461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs187373641	chr2:47875480-47875481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543276100	chr2:47875532-47875533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561922686	chr2:47875536-47875537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565044566	chr2:47875541-47875542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs532661973	chr2:47875561-47875562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547952092	chr2:47875581-47875582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs546357846	chr2:47875588-47875589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs568491942	chr2:47875622-47875623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs10647234	chr2:47875623-47875624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs386390129	chr2:47875634-47875635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs397779352	chr2:47875635-47875636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Cancer	17699850	CNVD
Ovarian cancer	17699850	CNVD
Lung cancer	20668451	CNVD
Endometrioid adenocarcinoma	18269114	CNVD
Hereditary non-polyposis colorectal cancer	18269114	CNVD
Non-syndromic sensorineural hearing loss	19173287	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Lynch syndrome	20937110	CNVD
Cancer	21637783	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:191 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47864600-47881200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:47874800-47877000	Weak transcription	Right Atrium	heart
3	chr2:47876800-47877600	Enhancers	Placenta	Placenta
4	chr2:47877000-47877200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:47877000-47877200	Enhancers	Right Atrium	heart
6	chr2:47877200-47878400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:47877200-47880800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:47877200-47881200	Weak transcription	Right Atrium	heart
9	chr2:47877400-47881000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:47878400-47878800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:47878400-47879000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:47878600-47878800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr2:47878600-47878800	Enhancers	Pancreas	Pancrea
14	chr2:47878800-47879600	Weak transcription	Pancreas	Pancrea
15	chr2:47879000-47879400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:47879400-47880200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr2:47879600-47879800	Enhancers	Primary B cells from peripheral blood	blood
18	chr2:47879600-47881600	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr2:47879600-47882200	Enhancers	Pancreas	Pancrea
20	chr2:47879800-47880800	Weak transcription	Primary B cells from peripheral blood	blood
21	chr2:47879800-47881200	Enhancers	Brain Cingulate Gyrus	brain
22	chr2:47880000-47881800	Enhancers	Fetal Muscle Leg	muscle
23	chr2:47880200-47880800	Enhancers	Brain Hippocampus Middle	brain
24	chr2:47880200-47885800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr2:47880400-47882000	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr2:47880600-47880800	Enhancers	Brain Substantia Nigra	brain
27	chr2:47880600-47881800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr2:47880600-47881800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr2:47880800-47881000	Enhancers	Brain Anterior Caudate	brain
30	chr2:47880800-47881000	Flanking Active TSS	Brain Hippocampus Middle	brain
31	chr2:47880800-47881400	Flanking Active TSS	Brain Substantia Nigra	brain
32	chr2:47880800-47881600	Enhancers	Fetal Kidney	kidney
33	chr2:47880800-47882000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr2:47880800-47882200	Enhancers	Brain Angular Gyrus	brain
35	chr2:47880800-47883400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr2:47880800-47884000	Enhancers	Primary B cells from peripheral blood	blood
37	chr2:47881000-47881200	Enhancers	Brain Hippocampus Middle	brain
38	chr2:47881000-47881400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr2:47881000-47881400	Enhancers	K562	blood
40	chr2:47881000-47881600	Bivalent Enhancer	HepG2	liver
41	chr2:47881000-47881800	Flanking Active TSS	Brain Anterior Caudate	brain
42	chr2:47881000-47882000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr2:47881000-47882000	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr2:47881000-47882000	Enhancers	Spleen	Spleen
45	chr2:47881000-47882200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr2:47881000-47882200	Enhancers	Gastric	stomach
47	chr2:47881000-47882200	Enhancers	HMEC	breast
48	chr2:47881000-47882600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:47881000-47882600	Enhancers	Fetal Muscle Trunk	muscle
50	chr2:47881000-47882600	Enhancers	Ovary	ovary

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