Variant report

Variant	nsv460093
Chromosome Location	chr2:213563072-213610359
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:213567367..213569833-chr2:213570200..213572900,2	K562	blood:
2	chr2:213575683..213577220-chr2:213580683..213583110,2	MCF-7	breast:
3	chr2:213575683..213577220-chr2:213580683..213583110,2	MCF-7	breast:
4	chr2:213576699..213578907-chr2:214015888..214018494,2	MCF-7	breast:
5	chr2:213584522..213587369-chr2:213588144..213590588,3	MCF-7	breast:
6	chr2:213584522..213587369-chr2:213588144..213590588,3	MCF-7	breast:
7	chr2:213567367..213569833-chr2:213570200..213572900,2	K562	blood:

Variant related genes	Relation type
ENSG00000030419	chromatin interactions
ENSG00000270659	chromatin interactions

Extended variants
information (count: 1276 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:1276 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7575556	chr2:213563072-213563073	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs116720219	chr2:213563154-213563155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577447179	chr2:213563157-213563158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs544878410	chr2:213563161-213563162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs146854778	chr2:213563202-213563203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs527592800	chr2:213563207-213563208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs148969390	chr2:213563220-213563221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs552237304	chr2:213563262-213563263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs189194579	chr2:213563300-213563301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs72935007	chr2:213563311-213563312	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs376039059	chr2:213563317-213563318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs11678941	chr2:213563338-213563339	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs548100969	chr2:213563377-213563378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs12479051	chr2:213563406-213563407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs536954219	chr2:213563431-213563432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs555032904	chr2:213563464-213563465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs567268085	chr2:213563466-213563467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs554906655	chr2:213563467-213563468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs12479054	chr2:213563482-213563483	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs577408867	chr2:213563495-213563496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs185393861	chr2:213563520-213563521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs553556310	chr2:213563522-213563523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs534229704	chr2:213563549-213563550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs552979112	chr2:213563588-213563589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs544097924	chr2:213569604-213569605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs373909848	chr2:213569622-213569623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs182248232	chr2:213569639-213569640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs187132467	chr2:213569667-213569668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs375805028	chr2:213569691-213569692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs370136569	chr2:213569710-213569711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs146382811	chr2:213569713-213569714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs191149321	chr2:213569720-213569721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs527770465	chr2:213569741-213569742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs556418482	chr2:213569806-213569807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs182288044	chr2:213569814-213569815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs549486817	chr2:213569821-213569822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs567759043	chr2:213569859-213569860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs367915570	chr2:213569870-213569871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs111268570	chr2:213569876-213569877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs370895514	chr2:213569914-213569915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs139406973	chr2:213569936-213569937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs16849100	chr2:213569983-213569984	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs539363193	chr2:213569996-213569997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs147012497	chr2:213570803-213570804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs182703569	chr2:213570862-213570863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs147652019	chr2:213570885-213570886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs370000464	chr2:213570892-213570893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs115457005	chr2:213570932-213570933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs372201328	chr2:213570982-213570983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs140880041	chr2:213571016-213571017	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	19039135	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:130 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:213558000-213563200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:213563200-213563600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:213569600-213570000	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr2:213570800-213571200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:213571200-213571600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:213571600-213571800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:213571600-213577000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:213571800-213572600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:213572600-213574000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:213572800-213574200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:213572800-213574800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:213572800-213578200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:213573800-213574000	Enhancers	NHLF	lung
14	chr2:213573800-213574200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr2:213574000-213574200	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr2:213574000-213575000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:213574000-213576000	Weak transcription	NHLF	lung
18	chr2:213574200-213575200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:213574200-213577000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:213574800-213576800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:213575000-213575400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:213575200-213576200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:213575400-213577600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:213576000-213576200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr2:213576000-213576200	Enhancers	NHLF	lung
26	chr2:213576000-213576400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr2:213576000-213578200	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr2:213576000-213579000	Enhancers	HMEC	breast
29	chr2:213576000-213579200	Enhancers	NHEK	skin
30	chr2:213576200-213577000	Weak transcription	NHLF	lung
31	chr2:213576200-213577200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:213576200-213577200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr2:213576200-213577600	Enhancers	Muscle Satellite Cultured Cells	--
34	chr2:213576400-213576800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr2:213576400-213577400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr2:213576600-213577200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr2:213576600-213577400	Enhancers	HSMMtube	muscle
38	chr2:213576800-213577200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr2:213576800-213577400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr2:213576800-213577600	Enhancers	NH-A	brain
41	chr2:213576800-213578800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr2:213577000-213577600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr2:213577000-213578000	Enhancers	NHDF-Ad	bronchial
44	chr2:213577000-213578200	Enhancers	NHLF	lung
45	chr2:213577000-213579000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr2:213577000-213579200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr2:213577200-213577600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
48	chr2:213577200-213577600	Enhancers	Brain Hippocampus Middle	brain
49	chr2:213577200-213578000	Enhancers	Brain Anterior Caudate	brain
50	chr2:213577200-213578000	Enhancers	HSMM	muscle

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