Variant report

Variant	nsv584308
Chromosome Location	chr2:210058383-210215272
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:12)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:210198604..210199864-chr2:210288126..210289099,23	MCF-7	breast:
2	chr2:210198908..210199771-chr2:210420683..210421740,3	MCF-7	breast:
3	chr2:209330724..209331762-chr2:210072595..210073780,7	MCF-7	breast:
4	chr2:209521522..209522845-chr2:210072588..210073484,4	MCF-7	breast:
5	chr2:210199940..210202124-chr2:210287908..210290540,2	MCF-7	breast:
6	chr2:209272322..209273071-chr2:210072607..210073525,2	K562	blood:
7	chr2:210198810..210200359-chr2:210287858..210289386,45	MCF-7	breast:
8	chr2:209685011..209685630-chr2:210072613..210073438,3	MCF-7	breast:
9	chr2:210209759..210211803-chr2:210221775..210224209,2	MCF-7	breast:
10	chr2:210200748..210201382-chr2:210288131..210289052,2	MCF-7	breast:
11	chr2:209272192..209273114-chr2:210195894..210196720,4	MCF-7	breast:
12	chr2:209684819..209685719-chr2:210072640..210073642,4	MCF-7	breast:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MAP2-1	chr2:210169839-210169985	NONHSAT076656
2	lnc-MAP2-1	chr2:210186322-210186519	NONHSAT076656
3	lnc-MAP2-1	chr2:210175597-210175857	NONHSAT076656
4	lnc-MAP2-1	chr2:210188124-210190281	NONHSAT076656
5	lnc-MAP2-1	chr2:210164256-210164664	NONHSAT076656
6	lnc-IDH1-4	chr2:210074012-210074172	NONHSAT076653

No data

Variant related genes	Relation type
ENSG00000078018	chromatin interactions
ENSG00000227430	chromatin interactions

Extended variants
information (count: 3884 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:3884 , 50 per page) page: 1 2 3 4 5 6 7 ... 78

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7581212	chr2:210058383-210058384	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs148154743	chr2:210058417-210058418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs370293426	chr2:210058520-210058521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553184518	chr2:210058557-210058558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs141634146	chr2:210058558-210058559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573178074	chr2:210058593-210058594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs150500681	chr2:210058595-210058596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs138606586	chr2:210058598-210058599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs141616115	chr2:210058602-210058603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs1439741	chr2:210058628-210058629	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs368840946	chr2:210058641-210058642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs372472203	chr2:210058667-210058668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs62215872	chr2:210058779-210058780	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs570765408	chr2:210058793-210058794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369822854	chr2:210058862-210058863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs35712087	chr2:210058976-210058977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs199826104	chr2:210058980-210058981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs116609164	chr2:210059014-210059015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs187684287	chr2:210059056-210059057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569259764	chr2:210059093-210059094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs537936816	chr2:210059116-210059117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs111830579	chr2:210059169-210059170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574664308	chr2:210059250-210059251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs73062200	chr2:210059262-210059263	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs554004288	chr2:210059308-210059309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs73062201	chr2:210059318-210059319	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs546524515	chr2:210059319-210059320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs149969114	chr2:210059335-210059336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs1439740	chr2:210059426-210059427	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs541528085	chr2:210059462-210059463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs114090335	chr2:210059463-210059464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs527438423	chr2:210059487-210059488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs547602701	chr2:210059497-210059498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs570702362	chr2:210059513-210059514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533054119	chr2:210059550-210059551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs376660524	chr2:210059599-210059600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192542761	chr2:210059616-210059617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574443432	chr2:210059624-210059625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184395331	chr2:210059643-210059644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs144144319	chr2:210059702-210059703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554596874	chr2:210059703-210059704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189189183	chr2:210059715-210059716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534068422	chr2:210059716-210059717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533501838	chr2:210059736-210059737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370647771	chr2:210059747-210059748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs148679251	chr2:210059766-210059767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs535451850	chr2:210059783-210059784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577052393	chr2:210059798-210059799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs78775145	chr2:210059824-210059825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556834059	chr2:210059837-210059838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Acute lymphoblastic leukemia	22237106	CNVD
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:418 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210056600-210065200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr2:210064600-210065400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr2:210065200-210065800	Enhancers	H9 Cell Line	embryonic stem cell
4	chr2:210065200-210067000	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr2:210065200-210067200	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr2:210065400-210066000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr2:210065400-210066000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:210065600-210066000	Enhancers	H1 Cell Line	embryonic stem cell
9	chr2:210065600-210066000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:210066000-210072400	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr2:210066000-210073000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr2:210067000-210067400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr2:210067200-210068200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr2:210067400-210071800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr2:210068200-210068600	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr2:210068600-210072000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr2:210071800-210072600	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr2:210072000-210075000	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr2:210072400-210074800	Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr2:210072600-210073000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr2:210072600-210074200	Active TSS	H1 Cell Line	embryonic stem cell
22	chr2:210073000-210073200	Active TSS	Rectal Mucosa Donor 31	rectum
23	chr2:210073000-210073400	Active TSS	Colon Smooth Muscle	Colon
24	chr2:210073000-210073400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
25	chr2:210073000-210073400	Active TSS	Fetal Intestine Small	intestine
26	chr2:210073000-210073400	Active TSS	Fetal Kidney	kidney
27	chr2:210073000-210073400	Active TSS	HMEC	breast
28	chr2:210073000-210073400	Active TSS	K562	blood
29	chr2:210073000-210073600	Active TSS	Adipose Nuclei	Adipose
30	chr2:210073000-210073600	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr2:210073000-210073600	Active TSS	Rectal Mucosa Donor 29	rectum
32	chr2:210073000-210073600	Active TSS	Rectal Smooth Muscle	rectum
33	chr2:210073000-210073600	Active TSS	A549	lung
34	chr2:210073000-210073800	Active TSS	Duodenum Smooth Muscle	Duodenum
35	chr2:210073000-210073800	Active TSS	HepG2	liver
36	chr2:210073000-210074000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr2:210073000-210074000	Active TSS	Primary hematopoietic stem cells	blood
38	chr2:210073000-210074000	Active TSS	Muscle Satellite Cultured Cells	--
39	chr2:210073000-210074000	Active TSS	Thymus	Thymus
40	chr2:210073000-210074000	Active TSS	HUVEC	blood vessel
41	chr2:210073000-210074000	Active TSS	NHDF-Ad	bronchial
42	chr2:210073000-210074200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr2:210073000-210074200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr2:210073000-210074200	Active TSS	Brain Hippocampus Middle	brain
45	chr2:210073000-210074200	Active TSS	Ovary	ovary
46	chr2:210073000-210074200	Active TSS	Psoas Muscle	Psoas
47	chr2:210073000-210074200	Active TSS	Right Ventricle	heart
48	chr2:210073000-210074200	Active TSS	HSMM	muscle
49	chr2:210073000-210074200	Active TSS	Monocytes-CD14+_RO01746	blood
50	chr2:210073000-210074400	Active TSS	iPS-15b Cell Line	embryonic stem cell

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