Variant report

Variant	nsv519056
Chromosome Location	chr13:111240469-111250043
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:111248203..111253078-chr13:111266905..111270322,4	K562	blood:
2	chr13:111247981..111253005-chr13:111363451..111368262,7	MCF-7	breast:
3	chr13:111248805..111250322-chr13:111277318..111279178,2	MCF-7	breast:
4	chr13:111248410..111250824-chr13:111273874..111275589,2	MCF-7	breast:
5	chr13:111160586..111163300-chr13:111242800..111244422,2	MCF-7	breast:
6	chr13:111247650..111249688-chr13:111251638..111253737,2	K562	blood:
7	chr13:111245511..111246504-chr13:111471490..111472454,5	K562	blood:
8	chr13:111106850..111109675-chr13:111241801..111244096,2	MCF-7	breast:
9	chr13:111249148..111253667-chr13:111266307..111270199,8	MCF-7	breast:
10	chr13:111246094..111246720-chr13:111297267..111298158,2	MCF-7	breast:
11	chr13:111211148..111213368-chr13:111243811..111245903,2	MCF-7	breast:
12	chr13:111249993..111251646-chr13:111251671..111254443,2	MCF-7	breast:
13	chr13:111248221..111251389-chr13:111364518..111367448,4	K562	blood:
14	chr13:111241754..111244735-chr13:111266379..111269807,3	MCF-7	breast:
15	chr13:111245045..111250011-chr13:111292249..111295847,5	MCF-7	breast:
16	chr13:111217584..111220349-chr13:111248231..111250917,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000213995	chromatin interactions
ENSG00000153487	chromatin interactions
ENSG00000134905	chromatin interactions

Extended variants
information (count: 401 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:401 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4773223	chr13:111240469-111240470	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs570170943	chr13:111240485-111240486	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs537158162	chr13:111240493-111240494	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577363937	chr13:111240513-111240514	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs116867842	chr13:111240567-111240568	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs185055652	chr13:111240579-111240580	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs371701213	chr13:111240586-111240587	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs142959755	chr13:111240609-111240610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs150932105	chr13:111240610-111240611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs79054800	chr13:111240643-111240644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs545826651	chr13:111240645-111240646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs189873955	chr13:111240649-111240650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs74751979	chr13:111240705-111240706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs543175946	chr13:111240752-111240753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561510501	chr13:111240760-111240761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs529088457	chr13:111240769-111240770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs182473995	chr13:111240773-111240774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs74939946	chr13:111240822-111240823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs77364021	chr13:111240825-111240826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs76973981	chr13:111240826-111240827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs80274710	chr13:111240828-111240829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559267709	chr13:111240837-111240838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs139441320	chr13:111240870-111240871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551711316	chr13:111240910-111240911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs77183956	chr13:111240964-111240965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs374723478	chr13:111240968-111240969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188370846	chr13:111240973-111240974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201163958	chr13:111241022-111241023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs77804996	chr13:111241026-111241027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567843389	chr13:111241032-111241033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs192845804	chr13:111241060-111241061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs528109514	chr13:111241068-111241069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs553695176	chr13:111241072-111241073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571930676	chr13:111241079-111241080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376169201	chr13:111241120-111241121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs183717991	chr13:111241174-111241175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188594143	chr13:111241185-111241186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575964328	chr13:111241196-111241197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192511336	chr13:111241250-111241251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555071796	chr13:111241314-111241315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs79035791	chr13:111241335-111241336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540866807	chr13:111241358-111241359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369018911	chr13:111241372-111241373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559130221	chr13:111241396-111241397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113675767	chr13:111241422-111241423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs143738023	chr13:111241423-111241424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577820578	chr13:111241434-111241435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs544997120	chr13:111241500-111241501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113401542	chr13:111241538-111241539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112321634	chr13:111241551-111241552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Cancer	20164919	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
Gastric cancer	17908304	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Thyroid cancer	19087340	CNVD
abortions and stillbirths	19751515	CNVD
Acute myeloid leukemia	21251322	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Burkitt''s lymphoma	20823134	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Burkitt''s lymphoma	19759907	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Medulloblastoma	19270706	CNVD
Mental retardation	17124404	CNVD
Leukemia	18688285	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21858162	CNVD
Melanoma	17363583	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	21645411	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	16608533	CNVD
Glioblastoma multiforme	22286061	CNVD
Follicular lymphoma	20505157	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
abnormal development	18461090	CNVD
Malignant glioma	17146433	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Glioma	17123091	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	20409316	CNVD
Central neurocytomas	17123091	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Neurocytoma	17123091	CNVD
Mantle cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111228600-111243000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr13:111235800-111242000	Weak transcription	HepG2	liver
3	chr13:111240400-111240600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr13:111240800-111242200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr13:111242000-111242800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr13:111242000-111243400	Enhancers	HepG2	liver
7	chr13:111242200-111242800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr13:111242200-111243000	Enhancers	Adipose Nuclei	Adipose
9	chr13:111242200-111243200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr13:111242200-111243600	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr13:111242200-111243800	Enhancers	HMEC	breast
12	chr13:111242400-111242800	Enhancers	K562	blood
13	chr13:111242400-111243000	Enhancers	NHEK	skin
14	chr13:111242400-111243200	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr13:111242400-111243600	Enhancers	Placenta	Placenta
16	chr13:111242600-111243200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr13:111242600-111243200	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr13:111242600-111243200	Enhancers	Stomach Mucosa	stomach
19	chr13:111242600-111243400	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr13:111242600-111243400	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr13:111242600-111243400	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr13:111242600-111243400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr13:111242600-111243600	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr13:111242600-111243600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr13:111242600-111243800	Enhancers	Rectal Smooth Muscle	rectum
26	chr13:111242600-111244000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr13:111242600-111244200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr13:111242800-111243400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr13:111242800-111243600	Enhancers	Placenta Amnion	Placenta Amnion
30	chr13:111242800-111244800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr13:111242800-111244800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr13:111243000-111243400	Enhancers	H1 Cell Line	embryonic stem cell
33	chr13:111243000-111243400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr13:111243000-111243400	Enhancers	Pancreas	Pancrea
35	chr13:111243000-111243400	Flanking Active TSS	NHEK	skin
36	chr13:111243000-111243600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr13:111243200-111243400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr13:111243200-111254400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr13:111243400-111243800	Enhancers	NHEK	skin
40	chr13:111243400-111249200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr13:111243600-111245200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr13:111243600-111249600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr13:111243800-111244800	Weak transcription	NHEK	skin
44	chr13:111243800-111245000	Weak transcription	HMEC	breast
45	chr13:111244000-111249400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr13:111244200-111244600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr13:111244600-111245000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr13:111244600-111245200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr13:111244600-111245400	Enhancers	Osteobl	bone
50	chr13:111244800-111245000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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