Variant report

Variant	nsv1182
Chromosome Location	chr13:110829691-110875029
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:110844249..110846564-chr13:110849150..110851645,2	K562	blood:
2	chr13:110857435..110860211-chr13:110864399..110867321,2	K562	blood:
3	chr13:110874596..110875214-chr13:111064347..111065092,2	MCF-7	breast:
4	chr13:110844249..110846564-chr13:110849150..110851645,2	K562	blood:
5	chr13:110826571..110829024-chr13:110829639..110833128,3	K562	blood:
6	chr13:110874637..110875247-chr13:111064309..111065320,5	K562	blood:
7	chr13:110874131..110875670-chr13:111096283..111097578,7	MCF-7	breast:
8	chr13:110857435..110860211-chr13:110864399..110867321,2	K562	blood:

No data

Extended variants
information (count: 2242 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:2242 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372287118	chr13:110829724-110829725	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs570452911	chr13:110829738-110829739	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539399459	chr13:110829744-110829745	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533008759	chr13:110829753-110829754	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs76805698	chr13:110829755-110829756	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566464809	chr13:110829803-110829804	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs71440053	chr13:110829882-110829883	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs548581333	chr13:110829899-110829900	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs56896070	chr13:110829929-110829930	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs142084347	chr13:110829935-110829936	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557093089	chr13:110829951-110829952	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs146317338	chr13:110830014-110830015	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539543642	chr13:110830028-110830029	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs377062434	chr13:110830072-110830073	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs2305081	chr13:110830090-110830091	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs542176778	chr13:110830113-110830114	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561850497	chr13:110830118-110830119	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575454847	chr13:110830137-110830138	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370771354	chr13:110830143-110830144	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs373554283	chr13:110830145-110830146	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575007524	chr13:110830153-110830154	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555594755	chr13:110830165-110830166	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs367677949	chr13:110830171-110830172	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564267894	chr13:110830172-110830173	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs146134172	chr13:110830200-110830201	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs139859950	chr13:110830236-110830237	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs35589734	chr13:110830240-110830241	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs41275090	chr13:110830258-110830259	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs35555394	chr13:110830282-110830283	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs41275092	chr13:110830305-110830306	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs528904999	chr13:110830364-110830365	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs376055658	chr13:110830386-110830387	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs191859871	chr13:110830388-110830389	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs201964644	chr13:110830413-110830414	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs371896266	chr13:110830436-110830437	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs376513801	chr13:110830466-110830467	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs145861489	chr13:110830467-110830468	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs367914388	chr13:110830478-110830479	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs267603752	chr13:110830487-110830488	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs144207910	chr13:110830495-110830496	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs375037032	chr13:110830499-110830500	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs368902134	chr13:110830506-110830507	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs550808618	chr13:110830523-110830524	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs147764548	chr13:110830535-110830536	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs372611739	chr13:110830540-110830541	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs141246689	chr13:110830553-110830554	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs201945270	chr13:110830601-110830602	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs199850462	chr13:110830611-110830612	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs138277123	chr13:110830612-110830613	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs369403643	chr13:110830616-110830617	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Pancreatic ductal adenocarcinoma	19077451	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
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:1170 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110791400-110868400	Weak transcription	Psoas Muscle	Psoas
2	chr13:110798800-110853200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr13:110799600-110840200	Strong transcription	Duodenum Smooth Muscle	Duodenum
4	chr13:110800200-110837800	Strong transcription	NH-A	brain
5	chr13:110800600-110834200	Weak transcription	Duodenum Mucosa	Duodenum
6	chr13:110802400-110842800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr13:110803000-110834200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr13:110803000-110840400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr13:110803200-110839800	Weak transcription	NHDF-Ad	bronchial
10	chr13:110803200-110839800	Strong transcription	Osteobl	bone
11	chr13:110803600-110840000	Strong transcription	Muscle Satellite Cultured Cells	--
12	chr13:110806600-110860400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr13:110809200-110840000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr13:110809800-110831200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr13:110810200-110866400	Strong transcription	Stomach Smooth Muscle	stomach
16	chr13:110811000-110840200	Strong transcription	HUVEC	blood vessel
17	chr13:110811600-110830600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr13:110811800-110838800	Strong transcription	Right Ventricle	heart
19	chr13:110812000-110838800	Strong transcription	Left Ventricle	heart
20	chr13:110814200-110830200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr13:110816200-110840400	Strong transcription	Adipose Nuclei	Adipose
22	chr13:110820600-110832200	Strong transcription	HSMMtube	muscle
23	chr13:110821000-110839400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr13:110821200-110831000	Strong transcription	NHLF	lung
25	chr13:110821200-110831200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr13:110822000-110839800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr13:110822200-110840000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr13:110822200-110840200	Strong transcription	Colon Smooth Muscle	Colon
29	chr13:110822600-110831800	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr13:110822600-110832000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr13:110822800-110837800	Strong transcription	HSMM	muscle
32	chr13:110823000-110831400	Strong transcription	HMEC	breast
33	chr13:110823000-110831800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr13:110823000-110837000	Strong transcription	Rectal Smooth Muscle	rectum
35	chr13:110823000-110840000	Strong transcription	Fetal Lung	lung
36	chr13:110823200-110831000	Strong transcription	Fetal Kidney	kidney
37	chr13:110823400-110831200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr13:110824000-110831000	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr13:110824000-110831000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
40	chr13:110824400-110830000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr13:110824400-110830400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr13:110824400-110831600	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr13:110824600-110835800	Strong transcription	Placenta	Placenta
44	chr13:110824600-110836200	Strong transcription	Fetal Muscle Trunk	muscle
45	chr13:110824800-110830800	Strong transcription	Skeletal Muscle Female	skeletal muscle
46	chr13:110825400-110830000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr13:110825600-110831400	Strong transcription	Sigmoid Colon	Sigmoid Colon
48	chr13:110825800-110830800	Strong transcription	H9 Cell Line	embryonic stem cell
49	chr13:110826200-110832000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr13:110826200-110836000	Weak transcription	Fetal Heart	heart

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