Variant report

Variant	nsv1045427
Chromosome Location	chr15:93576982-93598440
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:26)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:93579588..93581404-chr15:93595312..93596856,2	K562	blood:
2	chr15:93595482..93596364-chr15:94663247..94663772,2	MCF-7	breast:
3	chr15:93592218..93592729-chr15:93615397..93616252,2	MCF-7	breast:
4	chr15:93595183..93597112-chr15:93611286..93613095,2	K562	blood:
5	chr15:93596483..93598311-chr15:93599880..93601981,2	K562	blood:
6	chr15:93579091..93580828-chr15:93586546..93588169,2	MCF-7	breast:
7	chr15:93578885..93579662-chr15:94662813..94663759,5	MCF-7	breast:
8	chr15:93578869..93579602-chr15:93595481..93596255,3	MCF-7	breast:
9	chr15:93574551..93577420-chr15:93579160..93580770,3	K562	blood:
10	chr15:93578825..93581018-chr15:93588117..93590197,2	K562	blood:
11	chr15:93580132..93580807-chr15:94662834..94663577,2	MCF-7	breast:
12	chr15:93568688..93569217-chr15:93578899..93579602,2	K562	blood:
13	chr15:93594974..93598875-chr15:93599880..93602027,5	K562	blood:
14	chr15:93577362..93579561-chr15:93579719..93582659,2	K562	blood:
15	chr15:93572208..93574371-chr15:93590379..93592416,2	MCF-7	breast:
16	chr15:93596138..93597696-chr15:93600368..93602505,2	MCF-7	breast:
17	chr15:93578825..93581018-chr15:93588117..93590197,2	K562	blood:
18	chr15:93577362..93579561-chr15:93579719..93582659,2	K562	blood:
19	chr15:93573714..93576444-chr15:93578040..93581614,3	K562	blood:
20	chr15:93579588..93581404-chr15:93595312..93596856,2	K562	blood:
21	chr15:93578869..93579602-chr15:93595481..93596255,3	MCF-7	breast:
22	chr15:93578889..93580004-chr15:94663299..94663957,4	MCF-7	breast:
23	chr15:93592127..93594131-chr15:93599130..93601295,2	K562	blood:
24	chr15:93579091..93580828-chr15:93586546..93588169,2	MCF-7	breast:
25	chr15:93574551..93577420-chr15:93579160..93580770,3	K562	blood:
26	chr15:93571974..93576181-chr15:93579013..93582773,4	MCF-7	breast:

(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-RGMA-10	chr15:93597174-93600121	l_1226_chr15:93554028-93633805_testes
3	lnc-CHD2-1	chr15:93584557-93584641	XLOC_011358
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	chr15:93587873-93587866
2	RGMA	hsa-miR-148b-3p	chr15:93587867-93587888

Variant related genes	Relation type
TBK1	miRNA target sites
TBL1XR1	miRNA target sites

Extended variants
information (count: 1301 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:1301 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11636696	chr15:93576982-93576983	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs187969556	chr15:93577003-93577004	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs17705518	chr15:93577008-93577009	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs191272687	chr15:93577012-93577013	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs143785323	chr15:93577015-93577016	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs554284388	chr15:93577024-93577025	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs111453661	chr15:93577054-93577055	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs530111447	chr15:93577057-93577058	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs148165338	chr15:93577104-93577105	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs142022220	chr15:93577128-93577129	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs76812110	chr15:93577139-93577140	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs548643732	chr15:93577173-93577174	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs377726986	chr15:93577174-93577175	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs78268391	chr15:93577179-93577180	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs58977620	chr15:93577180-93577181	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs560417929	chr15:93577193-93577194	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs562744115	chr15:93577232-93577233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs367555663	chr15:93577246-93577247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs531788912	chr15:93577249-93577250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs542336202	chr15:93577262-93577263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs562199764	chr15:93577338-93577339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs529896096	chr15:93577345-93577346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs80123182	chr15:93577365-93577366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs1978877	chr15:93577383-93577384	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs150293701	chr15:93577391-93577392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs552489472	chr15:93577413-93577414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs1978876	chr15:93577439-93577440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs368924544	chr15:93577483-93577484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs537482887	chr15:93577492-93577493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs137893385	chr15:93577504-93577505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs539210479	chr15:93577536-93577537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs534093152	chr15:93577571-93577572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs367988583	chr15:93577585-93577586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs61321978	chr15:93577589-93577590	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs28476642	chr15:93577590-93577591	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs28539205	chr15:93577606-93577607	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs576492355	chr15:93577621-93577622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs368131608	chr15:93577638-93577639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs542272875	chr15:93577644-93577645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs371391210	chr15:93577695-93577696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs562138226	chr15:93577704-93577705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs1978875	chr15:93577724-93577725	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs540375119	chr15:93577725-93577726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs28626193	chr15:93577726-93577727	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs532373797	chr15:93577745-93577746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs1320817	chr15:93577786-93577787	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs568839812	chr15:93577804-93577805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs116099174	chr15:93577821-93577822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs547798767	chr15:93577827-93577828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs554101662	chr15:93577840-93577841	Weak transcription Enhancers	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:731 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:93570000-93579000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr15:93570200-93586000	Weak transcription	Aorta	Aorta
3	chr15:93570400-93585600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr15:93570400-93586400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr15:93571400-93585800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr15:93571800-93579400	Weak transcription	GM12878-XiMat	blood
7	chr15:93572400-93579400	Weak transcription	Fetal Heart	heart
8	chr15:93572400-93585800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr15:93572800-93579400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr15:93573000-93579200	Weak transcription	Primary B cells from cord blood	blood
11	chr15:93573800-93579200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr15:93573800-93580400	Weak transcription	Fetal Intestine Large	intestine
13	chr15:93574000-93579000	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr15:93574000-93579000	Weak transcription	K562	blood
15	chr15:93574000-93579200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr15:93574000-93580600	Weak transcription	Ovary	ovary
17	chr15:93574000-93585800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr15:93574400-93578600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr15:93574400-93578600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr15:93574400-93578800	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr15:93574400-93578800	Weak transcription	Primary B cells from peripheral blood	blood
22	chr15:93574400-93579000	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr15:93574400-93579000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr15:93574400-93579000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr15:93574400-93579000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr15:93574400-93579000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr15:93574400-93579000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr15:93574400-93579000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr15:93574400-93579000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr15:93574400-93579000	Weak transcription	Lung	lung
31	chr15:93574400-93579000	Weak transcription	Pancreas	Pancrea
32	chr15:93574400-93579000	Weak transcription	Spleen	Spleen
33	chr15:93574400-93579000	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr15:93574400-93579200	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr15:93574400-93579200	Weak transcription	Gastric	stomach
36	chr15:93574400-93579200	Weak transcription	Thymus	Thymus
37	chr15:93574400-93579400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr15:93574400-93579400	Weak transcription	Fetal Thymus	thymus
39	chr15:93574400-93579600	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr15:93574400-93580200	Weak transcription	HSMMtube	muscle
41	chr15:93574400-93580400	Weak transcription	Adipose Nuclei	Adipose
42	chr15:93574400-93580400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr15:93574400-93580600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr15:93574400-93582200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr15:93574400-93582400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr15:93574400-93586200	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr15:93574400-93587000	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr15:93574400-93587600	Weak transcription	Left Ventricle	heart
49	chr15:93574600-93578000	Weak transcription	Colon Smooth Muscle	Colon
50	chr15:93574600-93579200	Weak transcription	Esophagus	oesophagus

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