Variant report

Variant	nsv584013
Chromosome Location	chr2:186245653-186377253
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:13)
LncRNA
region (count:13)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:174445047..174445587-chr2:186343137..186343750,2	MCF-7	breast:
2	chr2:186291344..186293651-chr2:186297486..186299914,2	K562	blood:
3	chr2:186094342..186094913-chr2:186257717..186258552,2	MCF-7	breast:
4	chr2:186361713..186363240-chr2:186364874..186366648,2	K562	blood:
5	chr2:186334605..186336794-chr2:186340639..186343119,2	MCF-7	breast:
6	chr2:186357997..186360182-chr2:186363444..186366189,2	MCF-7	breast:
7	chr2:186359864..186363240-chr2:186363578..186366648,4	K562	blood:
8	chr2:186359864..186363240-chr2:186363578..186366648,4	K562	blood:
9	chr2:186334605..186336794-chr2:186340639..186343119,2	MCF-7	breast:
10	chr15:50184826..50185646-chr2:186340212..186341106,2	MCF-7	breast:
11	chr2:186291344..186293651-chr2:186297486..186299914,2	K562	blood:
12	chr2:186361713..186363240-chr2:186364874..186366648,2	K562	blood:
13	chr2:186357997..186360182-chr2:186363444..186366189,2	MCF-7	breast:

(count:13 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZSWIM2-15	chr2:186311542-186311686	ucscGeneNc_uc002upi_2
2	lnc-FSIP2-5	chr2:186371629-186371957	NONHSAT075962
3	lnc-FSIP2-5	chr2:186370427-186370468	NONHSAT075962
4	lnc-FSIP2-5	chr2:186366772-186369632	NONHSAT075963
5	lnc-FSIP2-5	chr2:186347761-186347818	NONHSAT075962
6	lnc-ZSWIM2-15	chr2:186292850-186293692	ucscGeneNc_uc002upi_2
7	lnc-ZSWIM2-15	chr2:186302301-186302409	ucscGeneNc_uc002upi_2
8	lnc-FSIP2-5	chr2:186369880-186375991	NONHSAT075963
9	lnc-FSIP2-5	chr2:186370211-186370365	NONHSAT075962
10	lnc-FSIP2-5	chr2:186298824-186298920	NONHSAT075962
11	lnc-FSIP2-5	chr2:186369727-186370202	NONHSAT075962
12	lnc-FSIP2-5	chr2:186327396-186327672	NONHSAT075962
13	lnc-ZSWIM2-15	chr2:186309034-186309104	ucscGeneNc_uc002upi_2

No data

Extended variants
information (count: 3483 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:3483 , 50 per page) page: 1 2 3 4 5 6 7 ... 70

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528019086	chr2:186249823-186249824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs192046336	chr2:186249836-186249837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs181646517	chr2:186249850-186249851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs543220596	chr2:186249869-186249870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs531960900	chr2:186249903-186249904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs561511606	chr2:186249921-186249922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs550658876	chr2:186249926-186249927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs568892180	chr2:186249985-186249986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs532917987	chr2:186249991-186249992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs139350350	chr2:186250035-186250036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs566749932	chr2:186250056-186250057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs533795877	chr2:186250085-186250086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs1364469	chr2:186250164-186250165	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs567089484	chr2:186250199-186250200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs569392798	chr2:186250649-186250650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs67251792	chr2:186250650-186250651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs10650179	chr2:186250657-186250658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs530568132	chr2:186250664-186250665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs375986243	chr2:186250686-186250687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs186407392	chr2:186250703-186250704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs368904111	chr2:186250739-186250740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs567252755	chr2:186250765-186250766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs190958448	chr2:186250788-186250789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs1364481	chr2:186255407-186255408	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs115802669	chr2:186255409-186255410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs545704661	chr2:186255421-186255422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs574405320	chr2:186255422-186255423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs79932671	chr2:186255426-186255427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs542639651	chr2:186255478-186255479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs540340861	chr2:186255524-186255525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs561702391	chr2:186255586-186255587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs78939395	chr2:186255636-186255637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs551223257	chr2:186255645-186255646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs556211592	chr2:186255652-186255653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs139796621	chr2:186255674-186255675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs551728167	chr2:186255709-186255710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs188763321	chr2:186255747-186255748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs1862993	chr2:186255764-186255765	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs377483596	chr2:186255769-186255770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs181907656	chr2:186255773-186255774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs528200396	chr2:186255799-186255800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs370788381	chr2:186255807-186255808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs552405290	chr2:186255809-186255810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs35718762	chr2:186255816-186255817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs369237860	chr2:186255820-186255821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs546769131	chr2:186255849-186255850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs372986098	chr2:186255856-186255857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs557196928	chr2:186255884-186255885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs71405622	chr2:186255964-186255965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs3081976	chr2:186255976-186255977	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	18522746	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	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
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	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
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Autism	22543975	CNVD
Urothelial carcinoma	21177765	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:359 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:186249800-186250200	Enhancers	Fetal Kidney	kidney
2	chr2:186250600-186250800	Enhancers	Sigmoid Colon	Sigmoid Colon
3	chr2:186255400-186256200	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr2:186255400-186256600	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr2:186255800-186256200	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr2:186256000-186256400	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr2:186259800-186261200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:186261200-186261400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:186261200-186261800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:186281600-186282200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr2:186281800-186283000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr2:186282200-186282600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr2:186282600-186283600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr2:186283000-186283400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr2:186283400-186283800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr2:186289600-186290200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr2:186289600-186290200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:186289600-186290200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr2:186289600-186290200	Active TSS	Adipose Nuclei	Adipose
20	chr2:186289600-186290600	Active TSS	HUES64 Cell Line	embryonic stem cell
21	chr2:186289600-186291200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr2:186289600-186291600	Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr2:186289600-186291800	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr2:186289600-186291800	Active TSS	H1 Cell Line	embryonic stem cell
25	chr2:186289600-186291800	Active TSS	H9 Cell Line	embryonic stem cell
26	chr2:186289600-186291800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:186289600-186291800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr2:186289600-186291800	Active TSS	iPS-18 Cell Line	embryonic stem cell
29	chr2:186289600-186292000	Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr2:186289600-186292000	Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr2:186289600-186292000	Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr2:186289600-186292200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr2:186289800-186290200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr2:186289800-186290200	Active TSS	Fetal Muscle Trunk	muscle
35	chr2:186289800-186290200	Active TSS	Placenta	Placenta
36	chr2:186289800-186290600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr2:186289800-186291000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr2:186289800-186291400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr2:186289800-186292400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr2:186290000-186290600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr2:186290000-186291200	Active TSS	Muscle Satellite Cultured Cells	--
42	chr2:186290200-186290600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
43	chr2:186290200-186290600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr2:186290200-186290600	Active TSS	Rectal Mucosa Donor 31	rectum
45	chr2:186290200-186290800	Active TSS	HUVEC	blood vessel
46	chr2:186290200-186291000	Active TSS	Primary T cells from cord blood	blood
47	chr2:186290200-186291400	Active TSS	GM12878-XiMat	blood
48	chr2:186290200-186292000	Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr2:186290400-186290600	Enhancers	Primary B cells from cord blood	blood
50	chr2:186290400-186290800	Active TSS	Primary hematopoietic stem cells short term culture	blood

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