Variant report

Variant	nsv563103
Chromosome Location	chr13:110844188-110851808
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: 374 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:374 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7330851	chr13:110844188-110844189	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs560571417	chr13:110844195-110844196	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs574178366	chr13:110844196-110844197	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs115965032	chr13:110844239-110844240	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs141020680	chr13:110844280-110844281	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs73611449	chr13:110844310-110844311	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs551410686	chr13:110844333-110844334	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs565154233	chr13:110844379-110844380	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs527506121	chr13:110844413-110844414	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs547145188	chr13:110844422-110844423	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs567072024	chr13:110844432-110844433	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs535924447	chr13:110844451-110844452	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs549391335	chr13:110844476-110844477	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs569570553	chr13:110844477-110844478	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs538592452	chr13:110844480-110844481	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs200283555	chr13:110844523-110844524	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs558175448	chr13:110844546-110844547	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs578161281	chr13:110844563-110844564	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs267606743	chr13:110844569-110844570	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs371627589	chr13:110844583-110844584	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs149046219	chr13:110844603-110844604	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs113994104	chr13:110844604-110844605	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs267606744	chr13:110844605-110844606	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs554397633	chr13:110844630-110844631	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs201606177	chr13:110844632-110844633	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs183563055	chr13:110844637-110844638	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs370479261	chr13:110844639-110844640	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs2241967	chr13:110844721-110844722	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs562973227	chr13:110844729-110844730	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs189461603	chr13:110844742-110844743	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs150274704	chr13:110844760-110844761	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs565039644	chr13:110844811-110844812	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs527580411	chr13:110844814-110844815	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs547220725	chr13:110844848-110844849	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs560724545	chr13:110844849-110844850	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs114943433	chr13:110844853-110844854	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs549479296	chr13:110844865-110844866	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs531050234	chr13:110844932-110844933	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs149001147	chr13:110844943-110844944	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs538257834	chr13:110844978-110844979	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs9515163	chr13:110844996-110844997	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs561796754	chr13:110845009-110845010	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs571887112	chr13:110845019-110845020	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs534479958	chr13:110845031-110845032	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs554434652	chr13:110845037-110845038	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs567881828	chr13:110845042-110845043	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs490727	chr13:110845043-110845044	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs556393104	chr13:110845046-110845047	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs9521642	chr13:110845060-110845061	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs545121191	chr13:110845069-110845070	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:221 , 50 per page) page: 1 2 3 4 5

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	chr13:110806600-110860400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr13:110810200-110866400	Strong transcription	Stomach Smooth Muscle	stomach
5	chr13:110826400-110868200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr13:110826600-110858600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr13:110826600-110866200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr13:110826800-110847200	Strong transcription	Aorta	Aorta
9	chr13:110826800-110868000	Weak transcription	Brain Anterior Caudate	brain
10	chr13:110827000-110849200	Strong transcription	Fetal Stomach	stomach
11	chr13:110827600-110844200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr13:110827600-110869000	Weak transcription	Brain Hippocampus Middle	brain
13	chr13:110829000-110865000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr13:110829600-110874400	Weak transcription	A549	lung
15	chr13:110829800-110869600	Weak transcription	Small Intestine	intestine
16	chr13:110830000-110870800	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr13:110830200-110869600	Weak transcription	Fetal Brain Male	brain
18	chr13:110831000-110866000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr13:110833000-110849000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr13:110834600-110858400	Weak transcription	Duodenum Mucosa	Duodenum
21	chr13:110835200-110846400	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr13:110835200-110858600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr13:110835400-110866800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr13:110835600-110854600	Weak transcription	Fetal Brain Female	brain
25	chr13:110835600-110858400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr13:110835800-110846000	Weak transcription	Colonic Mucosa	Colon
27	chr13:110836400-110874200	Weak transcription	Esophagus	oesophagus
28	chr13:110836600-110845000	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr13:110836600-110851600	Weak transcription	Brain Germinal Matrix	brain
30	chr13:110837800-110847000	Strong transcription	Lung	lung
31	chr13:110838800-110844200	Weak transcription	Gastric	stomach
32	chr13:110838800-110844200	Weak transcription	Rectal Smooth Muscle	rectum
33	chr13:110838800-110844200	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr13:110838800-110849600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr13:110839000-110845800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr13:110839200-110848400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr13:110839400-110844200	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr13:110839800-110844200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr13:110840200-110849200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr13:110840200-110856000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr13:110840600-110844200	Weak transcription	HMEC	breast
42	chr13:110840800-110846000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr13:110840800-110848600	Strong transcription	Colon Smooth Muscle	Colon
44	chr13:110840800-110870200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr13:110841000-110844200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr13:110841000-110844200	Weak transcription	Fetal Intestine Large	intestine
47	chr13:110841000-110848000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr13:110841000-110848000	Strong transcription	Duodenum Smooth Muscle	Duodenum
49	chr13:110841000-110868200	Weak transcription	NHDF-Ad	bronchial
50	chr13:110841200-110844200	Weak transcription	HUES6 Cell Line	embryonic stem cell

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