Variant report

Variant	nsv904503
Chromosome Location	chr15:93570723-93605090
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:44)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

No data

(count:44 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:93596138..93597696-chr15:93600368..93602505,2	MCF-7	breast:
2	chr15:93602079..93604426-chr15:93606885..93609110,2	K562	blood:
3	chr15:93578825..93581018-chr15:93588117..93590197,2	K562	blood:
4	chr15:93573582..93574651-chr15:94662849..94663780,6	MCF-7	breast:
5	chr15:93573695..93574313-chr15:94867235..94868064,2	K562	blood:
6	chr15:93572208..93574371-chr15:93590379..93592416,2	MCF-7	breast:
7	chr15:93592127..93594131-chr15:93599130..93601295,2	K562	blood:
8	chr15:93592127..93594131-chr15:93599130..93601295,2	K562	blood:
9	chr15:93592218..93592729-chr15:93615397..93616252,2	MCF-7	breast:
10	chr15:93577362..93579561-chr15:93579719..93582659,2	K562	blood:
11	chr15:93573487..93574458-chr15:93631113..93631758,2	K562	blood:
12	chr15:93579588..93581404-chr15:93595312..93596856,2	K562	blood:
13	chr15:93595482..93596364-chr15:94663247..94663772,2	MCF-7	breast:
14	chr15:93568688..93569217-chr15:93578899..93579602,2	K562	blood:
15	chr15:93580132..93580807-chr15:94662834..94663577,2	MCF-7	breast:
16	chr15:93579091..93580828-chr15:93586546..93588169,2	MCF-7	breast:
17	chr15:93573714..93576444-chr15:93578040..93581614,3	K562	blood:
18	chr15:93596483..93598311-chr15:93599880..93601981,2	K562	blood:
19	chr15:93578885..93579662-chr15:94662813..94663759,5	MCF-7	breast:
20	chr15:93573714..93576444-chr15:93578040..93581614,3	K562	blood:
21	chr15:93571974..93576181-chr15:93579013..93582773,4	MCF-7	breast:
22	chr15:93340001..93340988-chr15:93573611..93574112,2	MCF-7	breast:
23	chr15:93594974..93598875-chr15:93599880..93602027,5	K562	blood:
24	chr15:93578869..93579602-chr15:93595481..93596255,3	MCF-7	breast:
25	chr15:93574551..93577420-chr15:93579160..93580770,3	K562	blood:
26	chr15:93572208..93574371-chr15:93590379..93592416,2	MCF-7	breast:
27	chr15:93595183..93597112-chr15:93611286..93613095,2	K562	blood:
28	chr15:93596138..93597696-chr15:93600368..93602505,2	MCF-7	breast:
29	chr15:93578869..93579602-chr15:93595481..93596255,3	MCF-7	breast:
30	chr15:93578825..93581018-chr15:93588117..93590197,2	K562	blood:
31	chr15:93571974..93576181-chr15:93579013..93582773,4	MCF-7	breast:
32	chr15:93566666..93569192-chr15:93570705..93573458,2	MCF-7	breast:
33	chr15:93596483..93598311-chr15:93599880..93601981,2	K562	blood:
34	chr15:93579588..93581404-chr15:93595312..93596856,2	K562	blood:
35	chr15:93573480..93574993-chr15:94662647..94663828,19	MCF-7	breast:
36	chr15:93573943..93574520-chr15:94867301..94868197,3	MCF-7	breast:
37	chr15:93573787..93574363-chr15:94711530..94712086,2	MCF-7	breast:
38	chr15:93579091..93580828-chr15:93586546..93588169,2	MCF-7	breast:
39	chr15:93573201..93574876-chr15:94662029..94663789,2	MCF-7	breast:
40	chr15:93594974..93598875-chr15:93599880..93602027,5	K562	blood:
41	chr15:93574551..93577420-chr15:93579160..93580770,3	K562	blood:
42	chr15:93578889..93580004-chr15:94663299..94663957,4	MCF-7	breast:
43	chr15:93562018..93563938-chr15:93568930..93571732,2	K562	blood:
44	chr15:93577362..93579561-chr15:93579719..93582659,2	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RGMA-10	chr15:93597174-93600121	l_1226_chr15:93554028-93633805_testes
2	lnc-RGMA-10	chr15:93600904-93601009	l_1226_chr15:93554028-93633805_testes
3	lnc-CHD2-1	chr15:93583948-93584357	XLOC_011358
4	lnc-CHD2-1	chr15:93584557-93584641	XLOC_011358
5	lnc-RGMA-10	chr15:93596948-93597153	l_1226_chr15:93554028-93633805_testes

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	RGMA	hsa-miR-148b-3p	chr15:93587873-93587866
2	RGMA	hsa-miR-148b-3p	chr15:93587867-93587888

Variant related genes	Relation type
ENSG00000182175	chromatin interactions
ENSG00000258570	chromatin interactions
TBK1	miRNA target sites
TBL1XR1	miRNA target sites

Extended variants
information (count: 2011 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:2011 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13759	chr15:93570723-93570724	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs546738771	chr15:93570731-93570732	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs189386795	chr15:93570736-93570737	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs535206440	chr15:93570759-93570760	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs555880544	chr15:93570761-93570762	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs1044778	chr15:93570786-93570787	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs140877958	chr15:93570801-93570802	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs182036695	chr15:93570816-93570817	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs12312	chr15:93570833-93570834	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs139506973	chr15:93570908-93570909	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs550876489	chr15:93570913-93570914	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs578257515	chr15:93570917-93570918	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs543813157	chr15:93570925-93570926	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs557096090	chr15:93570926-93570927	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs574039865	chr15:93570974-93570975	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs58542701	chr15:93570997-93570998	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs559846908	chr15:93570999-93571000	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs184443272	chr15:93571021-93571022	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs9685	chr15:93571028-93571029	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs11542973	chr15:93571029-93571030	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs564010470	chr15:93571070-93571071	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs537441692	chr15:93571130-93571131	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs533073519	chr15:93571193-93571194	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs368005934	chr15:93571216-93571217	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs549709661	chr15:93571270-93571271	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs180925799	chr15:93571280-93571281	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs569550541	chr15:93571291-93571292	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs528926510	chr15:93571303-93571304	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs149696663	chr15:93571314-93571315	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs565812077	chr15:93571319-93571320	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs535211125	chr15:93571364-93571365	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs555803973	chr15:93571402-93571403	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
33	rs145550100	chr15:93571427-93571428	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
34	rs571938762	chr15:93571445-93571446	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
35	rs537355909	chr15:93571471-93571472	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
36	rs557276576	chr15:93571482-93571483	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
37	rs573948528	chr15:93571496-93571497	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
38	rs543050680	chr15:93571498-93571499	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
39	rs11636905	chr15:93571516-93571517	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs573021580	chr15:93571520-93571521	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
41	rs560373128	chr15:93571569-93571570	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
42	rs148876928	chr15:93571602-93571603	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
43	rs577467750	chr15:93571659-93571660	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
44	rs201968690	chr15:93571668-93571669	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
45	rs186204444	chr15:93571672-93571673	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
46	rs190181427	chr15:93571674-93571675	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
47	rs534824906	chr15:93571707-93571708	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
48	rs553504839	chr15:93571729-93571730	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
49	rs563637217	chr15:93571765-93571766	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
50	rs528865549	chr15:93571774-93571775	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Sudden cardiac death	19188705	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Epilepsy	19486360	CNVD
Acute myeloid leukemia	17237825	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian cancer	21720365	CNVD
Developmental delay	21147756	CNVD
Hepatocellular carcinoma	16750200	CNVD
Central neurocytomas	17123091	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1340 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:93493200-93571000	Strong transcription	Dnd41	blood
2	chr15:93493200-93571200	Strong transcription	Rectal Mucosa Donor 29	rectum
3	chr15:93493400-93571000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr15:93493400-93571000	Strong transcription	Rectal Mucosa Donor 31	rectum
5	chr15:93493600-93571400	Strong transcription	HUES6 Cell Line	embryonic stem cell
6	chr15:93493800-93571400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr15:93494000-93570800	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr15:93494000-93571000	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr15:93494000-93571400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr15:93509600-93571200	Strong transcription	Fetal Lung	lung
11	chr15:93509600-93571400	Strong transcription	Duodenum Mucosa	Duodenum
12	chr15:93509800-93572000	Strong transcription	Fetal Intestine Large	intestine
13	chr15:93514200-93570800	Strong transcription	H1 Cell Line	embryonic stem cell
14	chr15:93526800-93572400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr15:93533200-93571800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr15:93533200-93571800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr15:93534000-93572800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr15:93534200-93572200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr15:93535200-93571000	Strong transcription	Sigmoid Colon	Sigmoid Colon
20	chr15:93538800-93570800	Strong transcription	NHLF	lung
21	chr15:93540400-93571600	Strong transcription	Thymus	Thymus
22	chr15:93542800-93571000	Strong transcription	Hela-S3	cervix
23	chr15:93551000-93571400	Strong transcription	Fetal Stomach	stomach
24	chr15:93551400-93570800	Strong transcription	Placenta Amnion	Placenta Amnion
25	chr15:93562200-93571600	Strong transcription	A549	lung
26	chr15:93564800-93571800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr15:93567200-93571000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr15:93567400-93570800	Strong transcription	Fetal Kidney	kidney
29	chr15:93567600-93570800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr15:93567600-93570800	Strong transcription	Pancreas	Pancrea
31	chr15:93567600-93571400	Genic enhancers	Right Ventricle	heart
32	chr15:93567600-93571600	Genic enhancers	Left Ventricle	heart
33	chr15:93567600-93571800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr15:93567600-93572400	Strong transcription	Fetal Intestine Small	intestine
35	chr15:93567600-93572600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr15:93567600-93573000	Enhancers	Right Atrium	heart
37	chr15:93567800-93571600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr15:93567800-93571600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr15:93568000-93571200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr15:93568000-93571400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr15:93568200-93570800	Genic enhancers	Primary hematopoietic stem cells	blood
42	chr15:93568200-93571400	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr15:93568200-93571600	Genic enhancers	Lung	lung
44	chr15:93568200-93572000	Enhancers	Psoas Muscle	Psoas
45	chr15:93568400-93571000	Genic enhancers	Brain Anterior Caudate	brain
46	chr15:93568400-93571200	Weak transcription	Fetal Brain Male	brain
47	chr15:93568400-93571600	Genic enhancers	Cortex derived primary cultured neurospheres	brain
48	chr15:93568600-93570800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr15:93568600-93570800	Genic enhancers	Liver	Liver
50	chr15:93568600-93570800	Strong transcription	Small Intestine	intestine

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