Variant report

Variant	nsv456117
Chromosome Location	chr13:110842153-110852220
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:110844249..110846564-chr13:110849150..110851645,2	K562	blood:
2	chr13:110844249..110846564-chr13:110849150..110851645,2	K562	blood:

Extended variants
information (count: 477 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:477 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3783106	chr13:110842153-110842154	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs3783105	chr13:110842158-110842159	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs530941951	chr13:110842174-110842175	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs75505958	chr13:110842196-110842197	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs5806841	chr13:110842248-110842249	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs397753668	chr13:110842250-110842251	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs368077832	chr13:110842309-110842310	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs550831786	chr13:110842322-110842323	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs370735989	chr13:110842336-110842337	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs569091690	chr13:110842341-110842342	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs374971605	chr13:110842389-110842390	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs539833062	chr13:110842427-110842428	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs546671584	chr13:110842445-110842446	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs137950633	chr13:110842498-110842499	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs535051971	chr13:110842515-110842516	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs367624486	chr13:110842558-110842559	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs2893362	chr13:110842581-110842582	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs113727057	chr13:110842583-110842584	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs575530732	chr13:110842609-110842610	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs530766175	chr13:110842623-110842624	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs142441667	chr13:110842641-110842642	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187975202	chr13:110842663-110842664	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs577618523	chr13:110842694-110842695	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs146011797	chr13:110842756-110842757	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553343756	chr13:110842763-110842764	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs377262678	chr13:110842788-110842789	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550962645	chr13:110842799-110842800	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs567415191	chr13:110842802-110842803	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562018624	chr13:110842816-110842817	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs139917706	chr13:110842824-110842825	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544441352	chr13:110842967-110842968	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564647242	chr13:110842983-110842984	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533256372	chr13:110843000-110843001	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs149746281	chr13:110843025-110843026	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs144579943	chr13:110843059-110843060	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs529275518	chr13:110843176-110843177	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs142259388	chr13:110843192-110843193	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569133115	chr13:110843224-110843225	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs538046417	chr13:110843234-110843235	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs566361901	chr13:110843244-110843245	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs557665915	chr13:110843318-110843319	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs368790048	chr13:110843338-110843339	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs571359514	chr13:110843339-110843340	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs533637190	chr13:110843344-110843345	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs147871373	chr13:110843362-110843363	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs573325691	chr13:110843398-110843399	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs192442405	chr13:110843418-110843419	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs538336737	chr13:110843422-110843423	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs74530946	chr13:110843441-110843442	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs558413513	chr13:110843495-110843496	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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

Chromatin state (count:252 , 50 per page) page: 1 2 3 4 5 6

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	chr13:110802400-110842800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr13:110806600-110860400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr13:110810200-110866400	Strong transcription	Stomach Smooth Muscle	stomach
6	chr13:110826400-110868200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr13:110826600-110858600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr13:110826600-110866200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr13:110826800-110847200	Strong transcription	Aorta	Aorta
10	chr13:110826800-110868000	Weak transcription	Brain Anterior Caudate	brain
11	chr13:110827000-110849200	Strong transcription	Fetal Stomach	stomach
12	chr13:110827600-110844200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr13:110827600-110869000	Weak transcription	Brain Hippocampus Middle	brain
14	chr13:110829000-110865000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr13:110829600-110874400	Weak transcription	A549	lung
16	chr13:110829800-110869600	Weak transcription	Small Intestine	intestine
17	chr13:110830000-110870800	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr13:110830200-110869600	Weak transcription	Fetal Brain Male	brain
19	chr13:110831000-110866000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr13:110831600-110842200	Weak transcription	Liver	Liver
21	chr13:110833000-110849000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr13:110834600-110842800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr13:110834600-110858400	Weak transcription	Duodenum Mucosa	Duodenum
24	chr13:110835200-110846400	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr13:110835200-110858600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr13:110835400-110866800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr13:110835600-110854600	Weak transcription	Fetal Brain Female	brain
28	chr13:110835600-110858400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr13:110835800-110846000	Weak transcription	Colonic Mucosa	Colon
30	chr13:110836200-110842600	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr13:110836400-110874200	Weak transcription	Esophagus	oesophagus
32	chr13:110836600-110845000	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr13:110836600-110851600	Weak transcription	Brain Germinal Matrix	brain
34	chr13:110837800-110847000	Strong transcription	Lung	lung
35	chr13:110838800-110843800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr13:110838800-110844000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr13:110838800-110844200	Weak transcription	Gastric	stomach
38	chr13:110838800-110844200	Weak transcription	Rectal Smooth Muscle	rectum
39	chr13:110838800-110844200	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr13:110838800-110849600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr13:110839000-110845800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr13:110839200-110848400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr13:110839400-110844000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr13:110839400-110844200	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr13:110839800-110844200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr13:110840000-110842800	Enhancers	Fetal Heart	heart
47	chr13:110840200-110849200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr13:110840200-110856000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr13:110840400-110843200	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr13:110840600-110843400	Weak transcription	HSMMtube	muscle

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