Variant report

Variant	nsv542471
Chromosome Location	chr15:93572133-93598434
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:38)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

No data

(count:38 , 50 per page) page: 1

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

(count:4 , 50 per page) page: 1

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

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	chr15:93587867-93587888
2	RGMA	hsa-miR-148b-3p	chr15:93587873-93587866

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

Extended variants
information (count: 1622 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:1622 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144126818	chr15:93572170-93572171	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
2	rs77610613	chr15:93572173-93572174	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
3	rs543634553	chr15:93572193-93572194	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
4	rs537919823	chr15:93572210-93572211	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
5	rs563411303	chr15:93572218-93572219	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
6	rs573903491	chr15:93572232-93572233	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
7	rs542612353	chr15:93572247-93572248	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
8	rs559403336	chr15:93572250-93572251	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
9	rs372078461	chr15:93572256-93572257	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
10	rs560736038	chr15:93572265-93572266	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
11	rs528160295	chr15:93572286-93572287	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
12	rs551497975	chr15:93572287-93572288	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
13	rs146513631	chr15:93572332-93572333	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
14	rs141165458	chr15:93572357-93572358	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
15	rs7179881	chr15:93572394-93572395	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs567828601	chr15:93572403-93572404	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
17	rs536960335	chr15:93572425-93572426	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
18	rs184082959	chr15:93572445-93572446	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
19	rs116073870	chr15:93572452-93572453	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
20	rs144967196	chr15:93572468-93572469	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
21	rs532333771	chr15:93572496-93572497	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
22	rs72765627	chr15:93572534-93572535	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs9944251	chr15:93572561-93572562	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
24	rs569129195	chr15:93572591-93572592	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
25	rs113589855	chr15:93572609-93572610	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
26	rs573815473	chr15:93572618-93572619	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
27	rs536561671	chr15:93572634-93572635	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
28	rs542949616	chr15:93572684-93572685	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
29	rs79234506	chr15:93572692-93572693	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
30	rs549327550	chr15:93572693-93572694	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
31	rs558504110	chr15:93572712-93572713	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
32	rs376301606	chr15:93572714-93572715	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
33	rs189066201	chr15:93572751-93572752	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
34	rs140481509	chr15:93572791-93572792	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
35	rs376193507	chr15:93572819-93572820	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
36	rs373849093	chr15:93572822-93572823	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
37	rs535045784	chr15:93572828-93572829	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
38	rs76775188	chr15:93572843-93572844	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
39	rs544437318	chr15:93572892-93572893	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
40	rs9944260	chr15:93572893-93572894	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs530276892	chr15:93572914-93572915	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
42	rs35852545	chr15:93572916-93572917	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
43	rs546878049	chr15:93572926-93572927	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
44	rs150435432	chr15:93573000-93573001	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
45	rs190621724	chr15:93573037-93573038	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs182767958	chr15:93573050-93573051	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs527633701	chr15:93573110-93573111	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs538348100	chr15:93573137-93573138	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs76122502	chr15:93573152-93573153	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs187267560	chr15:93573153-93573154	Weak transcription Enhancers Genic enhancers Flanking Active TSS	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:988 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:93526800-93572400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr15:93534000-93572800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:93534200-93572200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr15:93567600-93572400	Strong transcription	Fetal Intestine Small	intestine
5	chr15:93567600-93572600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr15:93567600-93573000	Enhancers	Right Atrium	heart
7	chr15:93568600-93573200	Genic enhancers	Fetal Muscle Leg	muscle
8	chr15:93568800-93572800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr15:93568800-93574000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
10	chr15:93569400-93574400	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr15:93569600-93573600	Weak transcription	K562	blood
12	chr15:93569600-93574200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr15:93569800-93572200	Weak transcription	Stomach Mucosa	stomach
14	chr15:93569800-93572800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr15:93569800-93573000	Weak transcription	HepG2	liver
16	chr15:93569800-93573800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr15:93570000-93572600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr15:93570000-93573800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr15:93570000-93574000	Enhancers	Brain Hippocampus Middle	brain
20	chr15:93570000-93574200	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr15:93570000-93574600	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr15:93570000-93579000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr15:93570200-93572200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr15:93570200-93572400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr15:93570200-93586000	Weak transcription	Aorta	Aorta
26	chr15:93570400-93573800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr15:93570400-93585600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr15:93570400-93586400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr15:93570600-93572600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr15:93570600-93573000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr15:93570600-93574000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr15:93570600-93574200	Enhancers	Rectal Smooth Muscle	rectum
33	chr15:93570800-93572200	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr15:93570800-93572600	Weak transcription	Primary hematopoietic stem cells	blood
35	chr15:93570800-93573000	Genic enhancers	NHLF	lung
36	chr15:93570800-93573400	Weak transcription	Small Intestine	intestine
37	chr15:93570800-93573600	Enhancers	Colonic Mucosa	Colon
38	chr15:93570800-93573800	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr15:93570800-93573800	Weak transcription	Fetal Kidney	kidney
40	chr15:93570800-93574000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr15:93570800-93574400	Enhancers	Liver	Liver
42	chr15:93570800-93574400	Enhancers	Brain Germinal Matrix	brain
43	chr15:93570800-93574600	Enhancers	Esophagus	oesophagus
44	chr15:93570800-93574600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr15:93571000-93572200	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr15:93571000-93572200	Weak transcription	Spleen	Spleen
47	chr15:93571000-93572400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr15:93571000-93572400	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr15:93571000-93573600	Weak transcription	Dnd41	blood
50	chr15:93571000-93573800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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