Variant report

Variant	nsv875801
Chromosome Location	chr2:212856539-212929014
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:212891576..212893248-chr2:212907537..212909277,2	K562	blood:
2	chr2:212891576..212893248-chr2:212907537..212909277,2	K562	blood:
3	chr2:212891168..212892898-chr5:170814131..170816510,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000181163	chromatin interactions

Extended variants
information (count: 1699 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:1699 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368225290	chr2:212859423-212859424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs4673645	chr2:212859424-212859425	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs373942755	chr2:212859444-212859445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs190534714	chr2:212859472-212859473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs116302504	chr2:212859479-212859480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs546764283	chr2:212859503-212859504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs10175279	chr2:212859518-212859519	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs551901669	chr2:212859594-212859595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs116687105	chr2:212859595-212859596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs199583798	chr2:212859625-212859626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs183096570	chr2:212859636-212859637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs557117738	chr2:212859650-212859651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs558692258	chr2:212859698-212859699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs187730848	chr2:212859705-212859706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs371742755	chr2:212859710-212859711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs536346627	chr2:212859712-212859713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs576883608	chr2:212859740-212859741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs147323898	chr2:212859754-212859755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs141071684	chr2:212859769-212859770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs149432504	chr2:212859790-212859791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs558496536	chr2:212861423-212861424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs73081375	chr2:212861441-212861442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs530317846	chr2:212861468-212861469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs570620172	chr2:212861470-212861471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs560842674	chr2:212861499-212861500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs181395805	chr2:212861503-212861504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs552753288	chr2:212861513-212861514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs184340595	chr2:212861610-212861611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs577002864	chr2:212861633-212861634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs531870403	chr2:212861640-212861641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs548587099	chr2:212861713-212861714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs568509265	chr2:212861745-212861746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs954310	chr2:212861784-212861785	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs577700580	chr2:212865003-212865004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs543550646	chr2:212865043-212865044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs139047128	chr2:212865130-212865131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs372599485	chr2:212865146-212865147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs542665320	chr2:212865174-212865175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs560323566	chr2:212865182-212865183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs75854405	chr2:212865239-212865240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528399551	chr2:212865256-212865257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545168444	chr2:212865267-212865268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191666048	chr2:212865276-212865277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530616159	chr2:212865278-212865279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs550646372	chr2:212865351-212865352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs567375725	chr2:212865356-212865357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529655663	chr2:212865369-212865370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546299210	chr2:212865380-212865381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566340589	chr2:212865433-212865434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552240556	chr2:212865456-212865457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:199 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:212859400-212859800	Enhancers	Skeletal Muscle Male	skeletal muscle
2	chr2:212859400-212859800	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr2:212861400-212861800	Enhancers	GM12878-XiMat	blood
4	chr2:212865000-212865200	Enhancers	Brain Hippocampus Middle	brain
5	chr2:212865200-212865800	Weak transcription	Brain Hippocampus Middle	brain
6	chr2:212865800-212866400	Enhancers	Brain Anterior Caudate	brain
7	chr2:212865800-212866600	Enhancers	Brain Hippocampus Middle	brain
8	chr2:212872600-212874400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:212874200-212874800	Enhancers	Brain Angular Gyrus	brain
10	chr2:212874400-212875800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:212877200-212877400	ZNF genes & repeats	Aorta	Aorta
12	chr2:212877400-212877800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:212877400-212878600	Enhancers	Aorta	Aorta
14	chr2:212877400-212879000	Enhancers	Osteobl	bone
15	chr2:212877600-212877800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:212877600-212878000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr2:212877600-212881200	Enhancers	Fetal Heart	heart
18	chr2:212878000-212878400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr2:212878000-212878400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:212878000-212878400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:212878000-212878600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:212878400-212878600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr2:212878400-212878600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:212878400-212879000	Enhancers	HMEC	breast
25	chr2:212878400-212880200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr2:212878400-212881600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr2:212878600-212880200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr2:212878600-212882600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:212879000-212880200	Weak transcription	Osteobl	bone
30	chr2:212880200-212880600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr2:212880200-212880600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr2:212880200-212880600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:212880200-212880600	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr2:212880200-212880600	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr2:212880200-212880600	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr2:212880200-212880600	Enhancers	Brain Germinal Matrix	brain
37	chr2:212880200-212880600	Enhancers	HSMMtube	muscle
38	chr2:212880200-212881200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr2:212880200-212883800	Enhancers	Osteobl	bone
40	chr2:212880400-212880600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr2:212881000-212884400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr2:212881200-212882400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr2:212881200-212883600	Weak transcription	Fetal Heart	heart
44	chr2:212881600-212883000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr2:212882200-212883200	Enhancers	Muscle Satellite Cultured Cells	--
46	chr2:212882400-212883600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr2:212882600-212882800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr2:212882800-212892000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr2:212883200-212886600	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr2:212883600-212884200	Enhancers	Fetal Heart	heart

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