Variant report

Variant	nsv904192
Chromosome Location	chr15:46052390-46266488
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:29)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:46147328..46148869-chr15:46153467..46155946,2	K562	blood:
2	chr15:46006507..46007343-chr15:46082324..46083236,6	MCF-7	breast:
3	chr15:46006790..46007374-chr15:46082648..46083178,2	MCF-7	breast:
4	chr15:46186630..46188503-chr15:46193113..46195997,2	K562	blood:
5	chr15:46090728..46093093-chr15:46093477..46095355,2	K562	blood:
6	chr15:46261395..46264064-chr15:46264761..46267387,3	K562	blood:
7	chr15:46090728..46093093-chr15:46093477..46095355,2	K562	blood:
8	chr15:46087402..46088272-chr15:46596181..46597073,2	MCF-7	breast:
9	chr15:46262570..46266036-chr15:46268169..46271398,3	K562	blood:
10	chr15:46142377..46144897-chr15:46146648..46148943,2	MCF-7	breast:
11	chr15:45997964..45998598-chr15:46082040..46082768,2	K562	blood:
12	chr15:46119183..46120143-chr15:46222287..46222847,2	MCF-7	breast:
13	chr15:46261395..46264064-chr15:46264761..46267387,3	K562	blood:
14	chr15:46007429..46008286-chr15:46082488..46083181,2	MCF-7	breast:
15	chr15:46142377..46144897-chr15:46146648..46148943,2	MCF-7	breast:
16	chr15:46059092..46061419-chr15:46070434..46072808,2	K562	blood:
17	chr15:46087324..46088347-chr15:46572620..46573411,3	MCF-7	breast:
18	chr15:45997957..45998586-chr15:46082546..46083244,2	MCF-7	breast:
19	chr15:46262313..46264064-chr15:46264761..46267103,2	K562	blood:
20	chr15:46087404..46087912-chr15:46596327..46596895,2	MCF-7	breast:
21	chr15:46087417..46088265-chr15:46383936..46384674,2	MCF-7	breast:
22	chr15:46087574..46088388-chr15:46572625..46573256,2	MCF-7	breast:
23	chr15:46007371..46008347-chr15:46082281..46083609,5	MCF-7	breast:
24	chr15:46262313..46264064-chr15:46264761..46267103,2	K562	blood:
25	chr15:46119183..46120143-chr15:46222287..46222847,2	MCF-7	breast:
26	chr15:46059092..46061419-chr15:46070434..46072808,2	K562	blood:
27	chr15:46006164..46008790-chr15:46082417..46084060,2	MCF-7	breast:
28	chr15:46186630..46188503-chr15:46193113..46195997,2	K562	blood:
29	chr15:46147328..46148869-chr15:46153467..46155946,2	K562	blood:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SQRDL-1	chr15:46068781-46068898	ENSG00000259200.1
2	lnc-SQRDL-1	chr15:46140779-46140929	ENSG00000259200.1
3	lnc-SQRDL-1	chr15:46140779-46141083	ENSG00000259200.1
4	lnc-SQRDL-1	chr15:46083993-46084113	ENSG00000259200.1
5	lnc-SQRDL-1	chr15:46219027-46219179	ENSG00000259200.1
6	lnc-SQRDL-1	chr15:46220129-46220262	ENSG00000259200.1
7	lnc-SQRDL-1	chr15:46223146-46223267	ENSG00000259200.1

No data

Extended variants
information (count: 4305 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:4305 , 50 per page) page: 1 2 3 4 5 6 7 ... 87

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11632150	chr15:46052390-46052391	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs117246977	chr15:46052403-46052404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs527715344	chr15:46052430-46052431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs118127790	chr15:46052433-46052434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs150064864	chr15:46052453-46052454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs377135887	chr15:46052473-46052474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs533048652	chr15:46052493-46052494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs549950841	chr15:46052504-46052505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs147756551	chr15:46052531-46052532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs535260443	chr15:46052537-46052538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs367752483	chr15:46052569-46052570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs116220025	chr15:46052596-46052597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs530672224	chr15:46052786-46052787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs534348539	chr15:46052829-46052830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs557295456	chr15:46052843-46052844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs572284202	chr15:46052891-46052892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs542848117	chr15:46052892-46052893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs142341482	chr15:46052906-46052907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs11633202	chr15:46052920-46052921	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs556809595	chr15:46052951-46052952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs374165566	chr15:46053039-46053040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576607081	chr15:46053050-46053051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542419987	chr15:46053052-46053053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562199475	chr15:46053114-46053115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538252757	chr15:46053116-46053117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs75683439	chr15:46053118-46053119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541457203	chr15:46053134-46053135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs146427170	chr15:46053136-46053137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533265418	chr15:46053148-46053149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs549848074	chr15:46053205-46053206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563593904	chr15:46053217-46053218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs193062709	chr15:46053331-46053332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs145576626	chr15:46053339-46053340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369517692	chr15:46053375-46053376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548748798	chr15:46053396-46053397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs563691778	chr15:46053447-46053448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs185378229	chr15:46053504-46053505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534370516	chr15:46053555-46053556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs544379238	chr15:46053588-46053589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs2056032	chr15:46053631-46053632	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs537047637	chr15:46053659-46053660	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs147898874	chr15:46053660-46053661	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs188816038	chr15:46053671-46053672	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs549463208	chr15:46053687-46053688	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs536074114	chr15:46053724-46053725	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs555971313	chr15:46053745-46053746	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs111673035	chr15:46053746-46053747	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs541494121	chr15:46053772-46053773	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs112568950	chr15:46053780-46053781	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs562890264	chr15:46053785-46053786	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Melanoma	17363583	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:451 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:46051800-46052600	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr15:46051800-46053000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr15:46052200-46052400	Enhancers	H1 Cell Line	embryonic stem cell
4	chr15:46052600-46053800	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr15:46053600-46054000	Active TSS	Gastric	stomach
6	chr15:46053800-46054200	Enhancers	H1 Cell Line	embryonic stem cell
7	chr15:46054800-46055600	Enhancers	Liver	Liver
8	chr15:46055400-46055800	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr15:46056800-46057000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr15:46068800-46069400	Enhancers	HepG2	liver
11	chr15:46072400-46073600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr15:46072800-46073000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr15:46073000-46073200	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr15:46073200-46073400	Enhancers	H9 Cell Line	embryonic stem cell
15	chr15:46073200-46074200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr15:46073200-46074200	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr15:46073200-46074800	Enhancers	Fetal Muscle Leg	muscle
18	chr15:46073200-46075200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr15:46073400-46074400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr15:46073400-46075000	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr15:46074000-46074800	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr15:46074000-46074800	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr15:46074000-46075000	Enhancers	H1 Cell Line	embryonic stem cell
24	chr15:46074000-46075200	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr15:46074200-46074400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr15:46074200-46074600	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr15:46074200-46074600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr15:46074200-46074800	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr15:46074200-46074800	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr15:46074200-46075000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr15:46074400-46074800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr15:46074400-46074800	Enhancers	H9 Cell Line	embryonic stem cell
33	chr15:46074400-46074800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr15:46074400-46074800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr15:46074400-46074800	Enhancers	Fetal Brain Female	brain
36	chr15:46074400-46075000	Enhancers	Pancreas	Pancrea
37	chr15:46074800-46075000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
38	chr15:46074800-46075200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr15:46074800-46078400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr15:46076000-46076200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
41	chr15:46076400-46077400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr15:46076800-46077400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr15:46076800-46077400	Enhancers	NHEK	skin
44	chr15:46077200-46077400	Enhancers	Pancreas	Pancrea
45	chr15:46078400-46078600	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr15:46086000-46087000	Enhancers	HepG2	liver
47	chr15:46086200-46089000	Enhancers	Fetal Muscle Leg	muscle
48	chr15:46086400-46089200	Enhancers	Liver	Liver
49	chr15:46087000-46087600	Enhancers	Fetal Stomach	stomach
50	chr15:46087000-46087800	Flanking Active TSS	HepG2	liver

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