Variant report

Variant	nsv563072
Chromosome Location	chr13:110415013-110418971
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:6)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:110410515..110416415-chr13:110436559..110440960,7	K562	blood:
2	chr13:110417399..110417917-chr13:110760942..110761494,2	MCF-7	breast:
3	chr13:110411444..110413662-chr13:110413708..110416940,3	K562	blood:
4	chr13:110414170..110416819-chr13:110432906..110435378,2	K562	blood:
5	chr13:110413885..110415752-chr13:110436312..110438893,2	MCF-7	breast:
6	chr13:110410426..110416204-chr13:110437300..110441341,7	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-COL4A1-5	chr13:110417658-110418068	NONHSAT035118
2	lnc-COL4A1-5	chr13:110418461-110418469	NONHSAT035118

No data

Variant related genes	Relation type
ENSG00000185950	chromatin interactions

Extended variants
information (count: 182 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:182 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7987237	chr13:110415013-110415014	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs140253444	chr13:110415014-110415015	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs532966386	chr13:110415086-110415087	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs529762910	chr13:110415119-110415120	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs144307498	chr13:110415125-110415126	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs562967970	chr13:110415126-110415127	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs147790135	chr13:110415132-110415133	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs569616289	chr13:110415208-110415209	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs115845450	chr13:110415224-110415225	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs538044482	chr13:110415359-110415360	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs555177044	chr13:110415374-110415375	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs141347869	chr13:110415378-110415379	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs571651032	chr13:110415423-110415424	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs373997949	chr13:110415449-110415450	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs534402457	chr13:110415517-110415518	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs143568884	chr13:110415532-110415533	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs185584404	chr13:110415533-110415534	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs150977997	chr13:110415595-110415596	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs189848329	chr13:110415646-110415647	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs576486363	chr13:110415723-110415724	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs564426172	chr13:110415758-110415759	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs200968837	chr13:110415770-110415771	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs539076729	chr13:110415772-110415773	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs578077339	chr13:110415782-110415783	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs558887744	chr13:110415798-110415799	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs572252668	chr13:110415819-110415820	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs112347810	chr13:110415821-110415822	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs182116934	chr13:110415832-110415833	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs574446432	chr13:110415850-110415851	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs534267523	chr13:110415877-110415878	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs543093083	chr13:110415919-110415920	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs553867529	chr13:110415933-110415934	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs531975259	chr13:110415964-110415965	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs79891016	chr13:110415979-110415980	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs565193227	chr13:110415998-110415999	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs140905256	chr13:110416026-110416027	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs140592304	chr13:110416054-110416055	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs35275594	chr13:110416062-110416063	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs532485237	chr13:110416064-110416065	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs547254199	chr13:110416096-110416097	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs567734759	chr13:110416118-110416119	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs576326884	chr13:110416232-110416233	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs536882513	chr13:110416300-110416301	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs111840253	chr13:110416322-110416323	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs570210807	chr13:110416325-110416326	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs193252586	chr13:110416350-110416351	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs559000727	chr13:110416362-110416363	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs874016	chr13:110416393-110416394	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs12583444	chr13:110416460-110416461	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs12583454	chr13:110416505-110416506	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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	18451855	CNVD

Chromatin state (count:310 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110396400-110416400	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr13:110396600-110417000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr13:110396800-110417000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr13:110397000-110416400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr13:110397000-110428800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr13:110397200-110430400	Weak transcription	NHLF	lung
7	chr13:110397400-110419400	Weak transcription	Lung	lung
8	chr13:110401800-110430800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr13:110403200-110416800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr13:110403200-110430600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr13:110405000-110416600	Weak transcription	Small Intestine	intestine
12	chr13:110406200-110429400	Weak transcription	Primary B cells from cord blood	blood
13	chr13:110407400-110423400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr13:110408600-110416400	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr13:110408600-110416400	Weak transcription	HSMMtube	muscle
16	chr13:110408600-110416600	Weak transcription	Fetal Muscle Leg	muscle
17	chr13:110408600-110416800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr13:110408600-110416800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr13:110408600-110417000	Weak transcription	NH-A	brain
20	chr13:110408600-110417200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr13:110408600-110417400	Weak transcription	Fetal Stomach	stomach
22	chr13:110408600-110421600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr13:110408600-110422800	Weak transcription	Duodenum Mucosa	Duodenum
24	chr13:110408600-110423800	Weak transcription	Placenta	Placenta
25	chr13:110408600-110424400	Weak transcription	Spleen	Spleen
26	chr13:110408600-110430400	Weak transcription	Colonic Mucosa	Colon
27	chr13:110408800-110416400	Weak transcription	Thymus	Thymus
28	chr13:110408800-110416800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr13:110408800-110416800	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr13:110408800-110417000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr13:110408800-110417000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr13:110408800-110420800	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr13:110408800-110421400	Weak transcription	Fetal Intestine Large	intestine
34	chr13:110408800-110421800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr13:110408800-110422800	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr13:110408800-110423600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr13:110409000-110416600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr13:110409000-110417000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr13:110409000-110422600	Weak transcription	Fetal Lung	lung
40	chr13:110409000-110431200	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr13:110409200-110416800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr13:110409200-110417000	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr13:110409200-110422200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr13:110409200-110422600	Weak transcription	Primary hematopoietic stem cells	blood
45	chr13:110409200-110423000	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr13:110409400-110417000	Weak transcription	Rectal Smooth Muscle	rectum
47	chr13:110409400-110429800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr13:110409400-110430200	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr13:110409600-110416400	Weak transcription	Primary T cells from cord blood	blood
50	chr13:110411200-110415200	Genic enhancers	Cortex derived primary cultured neurospheres	brain

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