Variant report

Variant	nsv818995
Chromosome Location	chr13:110421451-110422391
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	chr13:110421522..110423213-chr13:110437049..110440164,3	K562	blood:
2	chr13:110421344..110422045-chr7:139043990..139044984,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000273391	chromatin interactions
ENSG00000146963	chromatin interactions
ENSG00000185950	chromatin interactions

Extended variants
information (count: 37 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9521509	chr13:110421451-110421452	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs534156066	chr13:110421456-110421457	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs139384861	chr13:110421522-110421523	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs372868130	chr13:110421525-110421526	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs143294172	chr13:110421538-110421539	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs74123742	chr13:110421576-110421577	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs374693095	chr13:110421607-110421608	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs368591270	chr13:110421643-110421644	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs4773087	chr13:110421674-110421675	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs576299043	chr13:110421707-110421708	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs545224877	chr13:110421709-110421710	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs564951143	chr13:110421728-110421729	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs35184953	chr13:110421761-110421762	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs188666121	chr13:110421768-110421769	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs9587982	chr13:110421809-110421810	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs147364527	chr13:110421831-110421832	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs529673652	chr13:110421849-110421850	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs193157812	chr13:110421851-110421852	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs569257984	chr13:110421869-110421870	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs4773088	chr13:110421884-110421885	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs551692784	chr13:110421891-110421892	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs4773089	chr13:110421892-110421893	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs534057847	chr13:110421910-110421911	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs9587983	chr13:110421938-110421939	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs574069116	chr13:110421991-110421992	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs536688264	chr13:110422081-110422082	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs371584409	chr13:110422101-110422102	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs66796438	chr13:110422104-110422105	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs556448659	chr13:110422112-110422113	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs576411719	chr13:110422157-110422158	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs115432002	chr13:110422196-110422197	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs564951965	chr13:110422200-110422201	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs572233506	chr13:110422261-110422262	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs540752034	chr13:110422275-110422276	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs139411929	chr13:110422347-110422348	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs529636810	chr13:110422374-110422375	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs9515120	chr13:110422391-110422392	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

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:147 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110397000-110428800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr13:110397200-110430400	Weak transcription	NHLF	lung
3	chr13:110401800-110430800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr13:110403200-110430600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr13:110406200-110429400	Weak transcription	Primary B cells from cord blood	blood
6	chr13:110407400-110423400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr13:110408600-110421600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr13:110408600-110422800	Weak transcription	Duodenum Mucosa	Duodenum
9	chr13:110408600-110423800	Weak transcription	Placenta	Placenta
10	chr13:110408600-110424400	Weak transcription	Spleen	Spleen
11	chr13:110408600-110430400	Weak transcription	Colonic Mucosa	Colon
12	chr13:110408800-110421800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr13:110408800-110422800	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr13:110408800-110423600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr13:110409000-110422600	Weak transcription	Fetal Lung	lung
16	chr13:110409000-110431200	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr13:110409200-110422200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr13:110409200-110422600	Weak transcription	Primary hematopoietic stem cells	blood
19	chr13:110409200-110423000	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr13:110409400-110429800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr13:110409400-110430200	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr13:110411600-110422600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr13:110411800-110421800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr13:110412200-110422400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr13:110413400-110430400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr13:110413600-110430800	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr13:110414000-110424400	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr13:110414400-110428800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr13:110415000-110428800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr13:110416000-110430800	Weak transcription	Fetal Kidney	kidney
31	chr13:110417000-110432400	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr13:110417200-110424600	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr13:110417200-110430400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr13:110417200-110431600	Weak transcription	Fetal Muscle Leg	muscle
35	chr13:110417400-110422600	Weak transcription	NHDF-Ad	bronchial
36	chr13:110417400-110425600	Weak transcription	NH-A	brain
37	chr13:110417400-110429400	Weak transcription	Small Intestine	intestine
38	chr13:110417400-110430200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr13:110417600-110422800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr13:110417600-110423000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr13:110417600-110424200	Weak transcription	Brain Germinal Matrix	brain
42	chr13:110417600-110430400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr13:110417600-110430400	Weak transcription	Thymus	Thymus
44	chr13:110417600-110430600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr13:110417800-110421600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr13:110417800-110421600	Weak transcription	Fetal Stomach	stomach
47	chr13:110417800-110421600	Weak transcription	NHEK	skin
48	chr13:110417800-110422800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr13:110417800-110428800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr13:110417800-110428800	Weak transcription	Placenta Amnion	Placenta Amnion

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links