Variant report

Variant	nsv875794
Chromosome Location	chr2:212842777-212885510
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 917 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:917 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558599672	chr2:212845853-212845854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs578242178	chr2:212845875-212845876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs532788007	chr2:212845881-212845882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs563893988	chr2:212845896-212845897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs839542	chr2:212845904-212845905	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs543106168	chr2:212845908-212845909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs559544292	chr2:212845909-212845910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs183678263	chr2:212845912-212845913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs534548134	chr2:212845915-212845916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs551328054	chr2:212845938-212845939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs139700625	chr2:212845940-212845941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs530699801	chr2:212845974-212845975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs12613571	chr2:212845994-212845995	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs567450546	chr2:212846018-212846019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs554485391	chr2:212846042-212846043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs536011553	chr2:212846051-212846052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs565525351	chr2:212846075-212846076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs77756874	chr2:212846076-212846077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs566409159	chr2:212846098-212846099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs551454513	chr2:212846101-212846102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs569593296	chr2:212846104-212846105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs546745830	chr2:212846138-212846139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs558563592	chr2:212846145-212846146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs547930603	chr2:212846175-212846176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs12620013	chr2:212846204-212846205	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs544121056	chr2:212846270-212846271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs557417218	chr2:212846276-212846277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs149843962	chr2:212846324-212846325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs542814262	chr2:212846335-212846336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs559914333	chr2:212846351-212846352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs114418987	chr2:212846385-212846386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs114524324	chr2:212846424-212846425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs17414974	chr2:212846429-212846430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs530859675	chr2:212846473-212846474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs550954566	chr2:212846509-212846510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs77254577	chr2:212846525-212846526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs148977001	chr2:212846529-212846530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs191699513	chr2:212846536-212846537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs566556965	chr2:212846540-212846541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs536265949	chr2:212846564-212846565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs566697165	chr2:212846602-212846603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs184152743	chr2:212846671-212846672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs145598307	chr2:212846687-212846688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs189951339	chr2:212846798-212846799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs568870217	chr2:212846801-212846802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs537797095	chr2:212846813-212846814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs554560806	chr2:212846814-212846815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs147587110	chr2:212846863-212846864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs7563378	chr2:212846898-212846899	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs528961993	chr2:212846907-212846908	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Non-small cell lung cancer	21829676	CNVD
Autism	20808228	CNVD
Renal cell carcinoma	18765545	CNVD
Ovarian cancer	19193619	CNVD
Non-small cell lung cancer	18676828	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Urothelial cell carcinoma	18451213	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Schizophrenia	20838587	CNVD
Breast cancer	17661082	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	18990708	CNVD
Acute lymphoblastic leukemia	18458336	CNVD

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:212845800-212847400	Enhancers	Fetal Heart	heart
2	chr2:212845800-212848200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:212845800-212848200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:212846400-212846600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr2:212846400-212848000	Enhancers	HUVEC	blood vessel
6	chr2:212847400-212853000	Weak transcription	Fetal Heart	heart
7	chr2:212853000-212853800	Enhancers	Fetal Heart	heart
8	chr2:212854600-212855200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:212859400-212859800	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr2:212859400-212859800	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr2:212861400-212861800	Enhancers	GM12878-XiMat	blood
12	chr2:212865000-212865200	Enhancers	Brain Hippocampus Middle	brain
13	chr2:212865200-212865800	Weak transcription	Brain Hippocampus Middle	brain
14	chr2:212865800-212866400	Enhancers	Brain Anterior Caudate	brain
15	chr2:212865800-212866600	Enhancers	Brain Hippocampus Middle	brain
16	chr2:212872600-212874400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr2:212874200-212874800	Enhancers	Brain Angular Gyrus	brain
18	chr2:212874400-212875800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr2:212877200-212877400	ZNF genes & repeats	Aorta	Aorta
20	chr2:212877400-212877800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr2:212877400-212878600	Enhancers	Aorta	Aorta
22	chr2:212877400-212879000	Enhancers	Osteobl	bone
23	chr2:212877600-212877800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:212877600-212878000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr2:212877600-212881200	Enhancers	Fetal Heart	heart
26	chr2:212878000-212878400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr2:212878000-212878400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr2:212878000-212878400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:212878000-212878600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:212878400-212878600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr2:212878400-212878600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:212878400-212879000	Enhancers	HMEC	breast
33	chr2:212878400-212880200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr2:212878400-212881600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr2:212878600-212880200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr2:212878600-212882600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr2:212879000-212880200	Weak transcription	Osteobl	bone
38	chr2:212880200-212880600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr2:212880200-212880600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr2:212880200-212880600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr2:212880200-212880600	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr2:212880200-212880600	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr2:212880200-212880600	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr2:212880200-212880600	Enhancers	Brain Germinal Matrix	brain
45	chr2:212880200-212880600	Enhancers	HSMMtube	muscle
46	chr2:212880200-212881200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr2:212880200-212883800	Enhancers	Osteobl	bone
48	chr2:212880400-212880600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr2:212881000-212884400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr2:212881200-212882400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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