Variant report

Variant	nsv1038457
Chromosome Location	chr15:46111452-46258188
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:8)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:46186630..46188503-chr15:46193113..46195997,2	K562	blood:
2	chr15:46147328..46148869-chr15:46153467..46155946,2	K562	blood:
3	chr15:46119183..46120143-chr15:46222287..46222847,2	MCF-7	breast:
4	chr15:46147328..46148869-chr15:46153467..46155946,2	K562	blood:
5	chr15:46142377..46144897-chr15:46146648..46148943,2	MCF-7	breast:
6	chr15:46142377..46144897-chr15:46146648..46148943,2	MCF-7	breast:
7	chr15:46119183..46120143-chr15:46222287..46222847,2	MCF-7	breast:
8	chr15:46186630..46188503-chr15:46193113..46195997,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SQRDL-1	chr15:46140779-46140929	ENSG00000259200.1
2	lnc-SQRDL-1	chr15:46140779-46141083	ENSG00000259200.1
3	lnc-SQRDL-1	chr15:46223146-46223267	ENSG00000259200.1
4	lnc-SQRDL-1	chr15:46220129-46220262	ENSG00000259200.1
5	lnc-SQRDL-1	chr15:46219027-46219179	ENSG00000259200.1

No data

Extended variants
information (count: 3501 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:3501 , 50 per page) page: 1 2 3 4 5 6 7 ... 71

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74010723	chr15:46119605-46119606	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs199711903	chr15:46119624-46119625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs142938934	chr15:46119629-46119630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs570037313	chr15:46119657-46119658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs17556249	chr15:46119716-46119717	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs74010725	chr15:46119752-46119753	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs386783660	chr15:46119774-46119775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs565989975	chr15:46119790-46119791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs150689122	chr15:46119791-46119792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs551286018	chr15:46120010-46120011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs60618432	chr15:46120022-46120023	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs111253768	chr15:46120027-46120028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559048749	chr15:46120040-46120041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548805334	chr15:46120042-46120043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs144591980	chr15:46120047-46120048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs373018534	chr15:46120062-46120063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533383876	chr15:46120067-46120068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs147879103	chr15:46120070-46120071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370104050	chr15:46120122-46120123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529359382	chr15:46120142-46120143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560549400	chr15:46120170-46120171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549362116	chr15:46120175-46120176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566050558	chr15:46120180-46120181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534931923	chr15:46120187-46120188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs56084849	chr15:46120207-46120208	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs190293305	chr15:46120221-46120222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs546391558	chr15:46120233-46120234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs377364850	chr15:46120234-46120235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556865854	chr15:46120242-46120243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181704660	chr15:46120261-46120262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs55993180	chr15:46120262-46120263	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs141586491	chr15:46120289-46120290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs73426398	chr15:46120295-46120296	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs572474562	chr15:46120296-46120297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544590283	chr15:46120316-46120317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561976955	chr15:46120324-46120325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs72544308	chr15:46120325-46120326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs185950222	chr15:46120349-46120350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs117666440	chr15:46120359-46120360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539238685	chr15:46120405-46120406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563684101	chr15:46120409-46120410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529409338	chr15:46120430-46120431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371357919	chr15:46120439-46120440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376622417	chr15:46120440-46120441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs549173687	chr15:46120458-46120459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113198649	chr15:46120483-46120484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528521336	chr15:46120607-46120608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551794156	chr15:46120613-46120614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566800202	chr15:46120654-46120655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571606130	chr15:46120656-46120657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Testicular germ cell tumor	18059402	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
Colorectal cancer	16774939	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
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	21129771	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21045282	CNVD
Breast cancer	22032731	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Acute myeloid leukemia	19651601	CNVD
Marfan syndrome	17492313	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:357 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:46119600-46119800	Enhancers	Pancreas	Pancrea
2	chr15:46120000-46121200	Weak transcription	Pancreas	Pancrea
3	chr15:46120800-46121800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr15:46121200-46122200	Enhancers	Fetal Muscle Leg	muscle
5	chr15:46121200-46122800	Enhancers	Pancreas	Pancrea
6	chr15:46121400-46122200	Enhancers	Rectal Mucosa Donor 29	rectum
7	chr15:46121400-46122400	Enhancers	Fetal Muscle Trunk	muscle
8	chr15:46121400-46123000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr15:46121600-46121800	Active TSS	Rectal Mucosa Donor 31	rectum
10	chr15:46121600-46122000	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr15:46121800-46122000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr15:46121800-46122000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
13	chr15:46121800-46122200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr15:46121800-46122200	Active TSS	Colonic Mucosa	Colon
15	chr15:46121800-46122200	Enhancers	Esophagus	oesophagus
16	chr15:46122000-46122200	Enhancers	Gastric	stomach
17	chr15:46122800-46133000	Weak transcription	Pancreas	Pancrea
18	chr15:46127200-46127400	Enhancers	Fetal Muscle Leg	muscle
19	chr15:46127400-46129400	Weak transcription	Fetal Muscle Leg	muscle
20	chr15:46129400-46130200	Enhancers	Fetal Brain Male	brain
21	chr15:46129400-46130200	Enhancers	Fetal Muscle Leg	muscle
22	chr15:46130200-46133600	Weak transcription	Fetal Brain Male	brain
23	chr15:46133000-46133200	Enhancers	Primary hematopoietic stem cells	blood
24	chr15:46133000-46134000	Enhancers	Pancreas	Pancrea
25	chr15:46133600-46134000	Enhancers	Lung	lung
26	chr15:46133600-46134200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr15:46133600-46134400	Enhancers	Fetal Brain Male	brain
28	chr15:46133600-46134800	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr15:46133800-46134400	Enhancers	Colonic Mucosa	Colon
30	chr15:46133800-46134400	Enhancers	Rectal Mucosa Donor 29	rectum
31	chr15:46134000-46134800	Enhancers	Liver	Liver
32	chr15:46134000-46134800	Enhancers	HepG2	liver
33	chr15:46134000-46139400	Weak transcription	Pancreas	Pancrea
34	chr15:46134400-46134600	Enhancers	Fetal Stomach	stomach
35	chr15:46134400-46137000	Weak transcription	Fetal Brain Male	brain
36	chr15:46136600-46136800	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr15:46137000-46137400	Enhancers	Fetal Brain Male	brain
38	chr15:46139400-46140000	Enhancers	Pancreas	Pancrea
39	chr15:46140000-46145600	Weak transcription	Pancreas	Pancrea
40	chr15:46145600-46145800	Enhancers	Pancreas	Pancrea
41	chr15:46145800-46147400	Weak transcription	Pancreas	Pancrea
42	chr15:46146600-46147800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr15:46146600-46151200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr15:46146600-46151200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr15:46146800-46148000	Enhancers	NHEK	skin
46	chr15:46147200-46148000	Enhancers	HepG2	liver
47	chr15:46147200-46148800	Enhancers	Rectal Mucosa Donor 31	rectum
48	chr15:46147200-46149400	Enhancers	HMEC	breast
49	chr15:46147400-46148000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr15:46147400-46148000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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