Variant report

Variant	nsv584009
Chromosome Location	chr2:186203397-186345148
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:7)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:186334605..186336794-chr2:186340639..186343119,2	MCF-7	breast:
2	chr2:186291344..186293651-chr2:186297486..186299914,2	K562	blood:
3	chr1:174445047..174445587-chr2:186343137..186343750,2	MCF-7	breast:
4	chr15:50184826..50185646-chr2:186340212..186341106,2	MCF-7	breast:
5	chr2:186291344..186293651-chr2:186297486..186299914,2	K562	blood:
6	chr2:186334605..186336794-chr2:186340639..186343119,2	MCF-7	breast:
7	chr2:186094342..186094913-chr2:186257717..186258552,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FSIP2-5	chr2:186298824-186298920	NONHSAT075962
2	lnc-FSIP2-5	chr2:186327396-186327672	NONHSAT075962
3	lnc-ZSWIM2-15	chr2:186309034-186309104	ucscGeneNc_uc002upi_2
4	lnc-ZSWIM2-15	chr2:186292850-186293692	ucscGeneNc_uc002upi_2
5	lnc-ZSWIM2-15	chr2:186302301-186302409	ucscGeneNc_uc002upi_2
6	lnc-ZSWIM2-15	chr2:186311542-186311686	ucscGeneNc_uc002upi_2

No data

Extended variants
information (count: 2666 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:2666 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs850875	chr2:186203397-186203398	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs533725948	chr2:186203400-186203401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs552787729	chr2:186203403-186203404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs146818151	chr2:186203418-186203419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs12998622	chr2:186203419-186203420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs137963866	chr2:186203463-186203464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs142075943	chr2:186203476-186203477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs11681671	chr2:186203532-186203533	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs850876	chr2:186203542-186203543	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs530730711	chr2:186203551-186203552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs545951414	chr2:186203558-186203559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs563685587	chr2:186203576-186203577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs114928874	chr2:186203599-186203600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs145904593	chr2:186203631-186203632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1364472	chr2:186203635-186203636	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs543032588	chr2:186203656-186203657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs148193622	chr2:186203660-186203661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs529338442	chr2:186203693-186203694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs4666681	chr2:186203705-186203706	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs569542454	chr2:186203725-186203726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181995490	chr2:186203742-186203743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs4666682	chr2:186203743-186203744	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs566998170	chr2:186203753-186203754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547207940	chr2:186203754-186203755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534714671	chr2:186203795-186203796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs11694167	chr2:186203864-186203865	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs574081670	chr2:186203870-186203871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs141166188	chr2:186203871-186203872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs850877	chr2:186203872-186203873	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs79274639	chr2:186203880-186203881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs150794495	chr2:186203967-186203968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564301966	chr2:186204001-186204002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572981475	chr2:186204005-186204006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs529318106	chr2:186204008-186204009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569169539	chr2:186204056-186204057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs138094897	chr2:186204059-186204060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529426582	chr2:186204117-186204118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186294526	chr2:186204135-186204136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188329300	chr2:186204155-186204156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs180839854	chr2:186204165-186204166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs551836573	chr2:186204182-186204183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs78988289	chr2:186204189-186204190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs114307832	chr2:186204200-186204201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs142528490	chr2:186204215-186204216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs850878	chr2:186204216-186204217	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs146000257	chr2:186204221-186204222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs556499288	chr2:186204222-186204223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185875500	chr2:186204240-186204241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555350733	chr2:186204262-186204263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539698078	chr2:186204285-186204286	Weak transcription	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:292 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:186202200-186203600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:186202600-186203600	Enhancers	HMEC	breast
3	chr2:186203600-186207400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:186236800-186237200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr2:186236800-186237800	Enhancers	Adipose Nuclei	Adipose
6	chr2:186237200-186237600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:186237200-186237600	Enhancers	Muscle Satellite Cultured Cells	--
8	chr2:186237600-186238000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:186237600-186238600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr2:186238000-186238200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:186239200-186239400	Enhancers	Muscle Satellite Cultured Cells	--
12	chr2:186241200-186241400	Enhancers	Pancreas	Pancrea
13	chr2:186241200-186242000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:186242000-186242200	Enhancers	Pancreas	Pancrea
15	chr2:186249800-186250200	Enhancers	Fetal Kidney	kidney
16	chr2:186250600-186250800	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr2:186255400-186256200	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr2:186255400-186256600	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr2:186255800-186256200	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr2:186256000-186256400	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr2:186259800-186261200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr2:186261200-186261400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr2:186261200-186261800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
24	chr2:186281600-186282200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr2:186281800-186283000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr2:186282200-186282600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr2:186282600-186283600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr2:186283000-186283400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr2:186283400-186283800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr2:186289600-186290200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr2:186289600-186290200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr2:186289600-186290200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr2:186289600-186290200	Active TSS	Adipose Nuclei	Adipose
34	chr2:186289600-186290600	Active TSS	HUES64 Cell Line	embryonic stem cell
35	chr2:186289600-186291200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr2:186289600-186291600	Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr2:186289600-186291800	Active TSS	ES-I3 Cell Line	embryonic stem cell
38	chr2:186289600-186291800	Active TSS	H1 Cell Line	embryonic stem cell
39	chr2:186289600-186291800	Active TSS	H9 Cell Line	embryonic stem cell
40	chr2:186289600-186291800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr2:186289600-186291800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr2:186289600-186291800	Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chr2:186289600-186292000	Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr2:186289600-186292000	Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr2:186289600-186292000	Active TSS	iPS-20b Cell Line	embryonic stem cell
46	chr2:186289600-186292200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr2:186289800-186290200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:186289800-186290200	Active TSS	Fetal Muscle Trunk	muscle
49	chr2:186289800-186290200	Active TSS	Placenta	Placenta
50	chr2:186289800-186290600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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