Variant report

Variant	nsv562729
Chromosome Location	chr13:93161846-93204427
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:14)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:93187246..93189629-chr13:93231804..93233615,2	K562	blood:
2	chr13:93175770..93178293-chr13:93185133..93187097,2	K562	blood:
3	chr13:93188469..93192072-chr13:93192259..93196384,5	K562	blood:
4	chr13:93193686..93196509-chr13:93200416..93203528,3	K562	blood:
5	chr13:93164068..93165858-chr13:93167124..93168943,2	K562	blood:
6	chr13:93188469..93192072-chr13:93192259..93196384,5	K562	blood:
7	chr13:93193686..93196509-chr13:93200416..93203528,3	K562	blood:
8	chr13:93181636..93184594-chr13:93227863..93230266,2	K562	blood:
9	chr13:93188720..93192275-chr13:93193713..93196877,3	K562	blood:
10	chr13:93188720..93192275-chr13:93193713..93196877,3	K562	blood:
11	chr13:93175770..93178293-chr13:93185133..93187097,2	K562	blood:
12	chr13:93164068..93165858-chr13:93167124..93168943,2	K562	blood:
13	chr13:92839375..92840322-chr13:93182374..93183100,3	MCF-7	breast:
14	chr13:93194848..93196683-chr13:93226882..93229093,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPC6-2	chr13:93161766-93162347	ENSG00000236240.1

No data

Extended variants
information (count: 572 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:572 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2149063	chr13:93161846-93161847	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs542353861	chr13:93161909-93161910	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs112295340	chr13:93161910-93161911	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs186708353	chr13:93161947-93161948	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs559782430	chr13:93161950-93161951	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs2182840	chr13:93161957-93161958	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs564940237	chr13:93161984-93161985	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs370544209	chr13:93161986-93161987	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs190600458	chr13:93162029-93162030	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs551932090	chr13:93162057-93162058	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs1180898	chr13:93162061-93162062	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs183200376	chr13:93162065-93162066	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs548456833	chr13:93162092-93162093	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs568281922	chr13:93162094-93162095	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
15	rs554416976	chr13:93162136-93162137	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs370584355	chr13:93162137-93162138	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs375168928	chr13:93162140-93162141	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs533938770	chr13:93162151-93162152	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
19	rs560975790	chr13:93162169-93162170	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs200497832	chr13:93162196-93162197	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs559540620	chr13:93162198-93162199	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
22	rs539922099	chr13:93162214-93162215	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
23	rs535166416	chr13:93162248-93162249	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs12876232	chr13:93162249-93162250	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs113369389	chr13:93162258-93162259	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
26	rs187528229	chr13:93162271-93162272	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
27	rs578232587	chr13:93162274-93162275	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
28	rs544004913	chr13:93162282-93162283	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
29	rs16947714	chr13:93162294-93162295	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs115021871	chr13:93162301-93162302	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs532132089	chr13:93162361-93162362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs139463081	chr13:93162370-93162371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs1180900	chr13:93162374-93162375	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs576906017	chr13:93162382-93162383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs545841125	chr13:93162394-93162395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs528283112	chr13:93162430-93162431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs75415550	chr13:93162455-93162456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs386380222	chr13:93162456-93162457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs397717558	chr13:93162462-93162463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs12876237	chr13:93162463-93162464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs116388990	chr13:93162481-93162482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs537975836	chr13:93162492-93162493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs557212004	chr13:93162503-93162504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs190880246	chr13:93162523-93162524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs145283070	chr13:93162531-93162532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs74385024	chr13:93162612-93162613	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547662494	chr13:93162617-93162618	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570618578	chr13:93162620-93162621	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs539560884	chr13:93162712-93162713	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs550203614	chr13:93162744-93162745	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Autism	22495311	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
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Metanephric adenoma	20802469	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	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
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Medulloblastoma	19270706	CNVD
Myelofibrosis	22110671	CNVD
coloboma	21285886	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	19651601	CNVD
Effusion lymphoma	18079361	CNVD
Developmental delay	21147756	CNVD
Melanoma	20877625	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:93157000-93165200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr13:93160600-93164000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr13:93161800-93162800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr13:93162000-93163600	Enhancers	NHEK	skin
5	chr13:93162400-93163200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr13:93162600-93163000	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr13:93162600-93163000	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr13:93162600-93163000	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr13:93162600-93163200	Enhancers	H9 Cell Line	embryonic stem cell
10	chr13:93162600-93163200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr13:93162600-93163200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr13:93162600-93163200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr13:93162600-93163200	Enhancers	HMEC	breast
14	chr13:93162600-93163200	Enhancers	NH-A	brain
15	chr13:93162800-93163200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr13:93162800-93163200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr13:93162800-93163200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr13:93162800-93163400	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr13:93163000-93163200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr13:93163200-93164200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr13:93163200-93164400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr13:93163200-93165000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr13:93163200-93165200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr13:93163200-93165200	Weak transcription	NH-A	brain
25	chr13:93163200-93166600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr13:93163600-93164000	Weak transcription	NHEK	skin
27	chr13:93164000-93164200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr13:93164000-93164200	Enhancers	NHEK	skin
29	chr13:93164200-93165200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr13:93164200-93165200	Weak transcription	NHEK	skin
31	chr13:93164200-93167000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr13:93164400-93166000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr13:93165000-93165400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr13:93165200-93165400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr13:93165200-93165400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr13:93165200-93165400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr13:93165200-93165400	Enhancers	NH-A	brain
38	chr13:93165200-93167000	Enhancers	NHEK	skin
39	chr13:93165400-93165800	Weak transcription	NH-A	brain
40	chr13:93165400-93166600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr13:93165400-93171000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr13:93165800-93166200	Enhancers	NH-A	brain
43	chr13:93165800-93166400	Enhancers	Muscle Satellite Cultured Cells	--
44	chr13:93166600-93166800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr13:93166800-93167000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr13:93168200-93169000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr13:93169000-93169600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
48	chr13:93189600-93190600	Enhancers	Fetal Intestine Large	intestine
49	chr13:93189800-93190600	Enhancers	Fetal Intestine Small	intestine
50	chr13:93199600-93200000	Enhancers	NH-A	brain

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