Variant report

Variant	nsv875797
Chromosome Location	chr2:212847605-212888988
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 963 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:963 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16847416	chr2:212847605-212847606	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs558741984	chr2:212847615-212847616	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs575303754	chr2:212847617-212847618	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549031510	chr2:212847639-212847640	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567249114	chr2:212847645-212847646	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561108236	chr2:212847671-212847672	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs145877591	chr2:212847712-212847713	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540155469	chr2:212847726-212847727	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148186775	chr2:212847727-212847728	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554495568	chr2:212847758-212847759	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542278155	chr2:212847804-212847805	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532461231	chr2:212847838-212847839	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182088347	chr2:212847882-212847883	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558070248	chr2:212847983-212847984	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562695611	chr2:212848058-212848059	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs140123508	chr2:212848063-212848064	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs185444082	chr2:212848091-212848092	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs567959578	chr2:212848093-212848094	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190693000	chr2:212848100-212848101	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs150372947	chr2:212848150-212848151	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566788893	chr2:212848159-212848160	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374084239	chr2:212848171-212848172	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs115256650	chr2:212848208-212848209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558701519	chr2:212848219-212848220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs568910562	chr2:212848222-212848223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs537942739	chr2:212848239-212848240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555095075	chr2:212848252-212848253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574841350	chr2:212848339-212848340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs540584165	chr2:212848495-212848496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554226104	chr2:212848527-212848528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs138110359	chr2:212848555-212848556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs546147537	chr2:212848581-212848582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562658943	chr2:212848678-212848679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531576279	chr2:212848747-212848748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs142560791	chr2:212848760-212848761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs180699943	chr2:212848777-212848778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs527410223	chr2:212848786-212848787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs546960072	chr2:212848801-212848802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs566335970	chr2:212848819-212848820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs570138143	chr2:212848836-212848837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs367968725	chr2:212848858-212848859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs552490999	chr2:212848870-212848871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569345999	chr2:212848871-212848872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs371424785	chr2:212848879-212848880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs538391041	chr2:212848884-212848885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540027845	chr2:212848899-212848900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375704637	chr2:212848930-212848931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558042513	chr2:212848969-212848970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185315467	chr2:212848970-212848971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs568510767	chr2:212849093-212849094	Weak transcription	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:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:212845800-212848200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:212845800-212848200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:212846400-212848000	Enhancers	HUVEC	blood vessel
4	chr2:212847400-212853000	Weak transcription	Fetal Heart	heart
5	chr2:212853000-212853800	Enhancers	Fetal Heart	heart
6	chr2:212854600-212855200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:212859400-212859800	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr2:212859400-212859800	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr2:212861400-212861800	Enhancers	GM12878-XiMat	blood
10	chr2:212865000-212865200	Enhancers	Brain Hippocampus Middle	brain
11	chr2:212865200-212865800	Weak transcription	Brain Hippocampus Middle	brain
12	chr2:212865800-212866400	Enhancers	Brain Anterior Caudate	brain
13	chr2:212865800-212866600	Enhancers	Brain Hippocampus Middle	brain
14	chr2:212872600-212874400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr2:212874200-212874800	Enhancers	Brain Angular Gyrus	brain
16	chr2:212874400-212875800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr2:212877200-212877400	ZNF genes & repeats	Aorta	Aorta
18	chr2:212877400-212877800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr2:212877400-212878600	Enhancers	Aorta	Aorta
20	chr2:212877400-212879000	Enhancers	Osteobl	bone
21	chr2:212877600-212877800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:212877600-212878000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr2:212877600-212881200	Enhancers	Fetal Heart	heart
24	chr2:212878000-212878400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr2:212878000-212878400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr2:212878000-212878400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr2:212878000-212878600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:212878400-212878600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr2:212878400-212878600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:212878400-212879000	Enhancers	HMEC	breast
31	chr2:212878400-212880200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr2:212878400-212881600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr2:212878600-212880200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr2:212878600-212882600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:212879000-212880200	Weak transcription	Osteobl	bone
36	chr2:212880200-212880600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr2:212880200-212880600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr2:212880200-212880600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:212880200-212880600	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr2:212880200-212880600	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr2:212880200-212880600	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr2:212880200-212880600	Enhancers	Brain Germinal Matrix	brain
43	chr2:212880200-212880600	Enhancers	HSMMtube	muscle
44	chr2:212880200-212881200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr2:212880200-212883800	Enhancers	Osteobl	bone
46	chr2:212880400-212880600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr2:212881000-212884400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr2:212881200-212882400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr2:212881200-212883600	Weak transcription	Fetal Heart	heart
50	chr2:212881600-212883000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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