Variant report

Variant	nsv1052030
Chromosome Location	chr15:46086870-46255118
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:15)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:46119183..46120143-chr15:46222287..46222847,2	MCF-7	breast:
2	chr15:46090728..46093093-chr15:46093477..46095355,2	K562	blood:
3	chr15:46119183..46120143-chr15:46222287..46222847,2	MCF-7	breast:
4	chr15:46142377..46144897-chr15:46146648..46148943,2	MCF-7	breast:
5	chr15:46186630..46188503-chr15:46193113..46195997,2	K562	blood:
6	chr15:46087324..46088347-chr15:46572620..46573411,3	MCF-7	breast:
7	chr15:46087417..46088265-chr15:46383936..46384674,2	MCF-7	breast:
8	chr15:46087402..46088272-chr15:46596181..46597073,2	MCF-7	breast:
9	chr15:46147328..46148869-chr15:46153467..46155946,2	K562	blood:
10	chr15:46142377..46144897-chr15:46146648..46148943,2	MCF-7	breast:
11	chr15:46087404..46087912-chr15:46596327..46596895,2	MCF-7	breast:
12	chr15:46090728..46093093-chr15:46093477..46095355,2	K562	blood:
13	chr15:46087574..46088388-chr15:46572625..46573256,2	MCF-7	breast:
14	chr15:46186630..46188503-chr15:46193113..46195997,2	K562	blood:
15	chr15:46147328..46148869-chr15:46153467..46155946,2	K562	blood:

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

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

No data

Extended variants
information (count: 3944 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:3944 , 50 per page) page: 1 2 3 4 5 6 7 ... 79

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369675747	chr15:46086913-46086914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs182935336	chr15:46086956-46086957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs541523064	chr15:46087057-46087058	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs561378051	chr15:46087058-46087059	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs527255544	chr15:46087071-46087072	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs547291957	chr15:46087072-46087073	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs147213547	chr15:46087094-46087095	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs532749244	chr15:46087169-46087170	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs148700040	chr15:46087175-46087176	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs569469964	chr15:46087254-46087255	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs2460627	chr15:46087278-46087279	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs187273732	chr15:46087289-46087290	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs568483237	chr15:46087374-46087375	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs533912851	chr15:46087383-46087384	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs192709737	chr15:46087391-46087392	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs566282094	chr15:46087396-46087397	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs577025718	chr15:46087397-46087398	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs370380191	chr15:46087510-46087511	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs3914853	chr15:46087523-46087524	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs575815138	chr15:46087575-46087576	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs541538059	chr15:46087603-46087604	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs561414856	chr15:46087704-46087705	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs527281398	chr15:46087718-46087719	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs142043968	chr15:46087720-46087721	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs564099526	chr15:46087726-46087727	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs532739731	chr15:46087748-46087749	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs552881108	chr15:46087764-46087765	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs563111007	chr15:46087781-46087782	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs554865837	chr15:46087796-46087797	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs80214868	chr15:46087802-46087803	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs150725020	chr15:46087833-46087834	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs568416194	chr15:46087835-46087836	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs534210943	chr15:46087843-46087844	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs144048186	chr15:46087861-46087862	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs146465347	chr15:46087885-46087886	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs539382230	chr15:46087894-46087895	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537158883	chr15:46087941-46087942	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs2460628	chr15:46087952-46087953	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs370304153	chr15:46088004-46088005	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs11630229	chr15:46088009-46088010	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs555050997	chr15:46088019-46088020	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184713822	chr15:46088034-46088035	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs187934881	chr15:46088141-46088142	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192803900	chr15:46088176-46088177	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371812346	chr15:46088187-46088188	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs541061486	chr15:46088198-46088199	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577549614	chr15:46088208-46088209	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs557517496	chr15:46088242-46088243	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571197410	chr15:46088245-46088246	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs374599470	chr15:46088249-46088250	Enhancers Weak transcription	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:406 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:46086000-46087000	Enhancers	HepG2	liver
2	chr15:46086200-46089000	Enhancers	Fetal Muscle Leg	muscle
3	chr15:46086400-46089200	Enhancers	Liver	Liver
4	chr15:46087000-46087600	Enhancers	Fetal Stomach	stomach
5	chr15:46087000-46087800	Flanking Active TSS	HepG2	liver
6	chr15:46087200-46087400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr15:46087200-46087400	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr15:46087200-46087600	Enhancers	Fetal Intestine Large	intestine
9	chr15:46087200-46087800	Enhancers	Fetal Brain Female	brain
10	chr15:46087400-46087600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr15:46087400-46087800	Enhancers	Duodenum Mucosa	Duodenum
12	chr15:46087400-46088400	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr15:46087800-46088000	Enhancers	Fetal Intestine Small	intestine
14	chr15:46087800-46089200	Enhancers	HepG2	liver
15	chr15:46088400-46089400	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr15:46089000-46089200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
17	chr15:46089000-46089400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr15:46089200-46094000	Weak transcription	Liver	Liver
19	chr15:46089400-46094400	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr15:46090800-46091200	Enhancers	NHEK	skin
21	chr15:46093000-46096400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr15:46093200-46094600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr15:46093600-46094600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr15:46093800-46095200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr15:46093800-46095200	Enhancers	HepG2	liver
26	chr15:46094000-46094400	Enhancers	Liver	Liver
27	chr15:46094200-46094800	Enhancers	Brain Germinal Matrix	brain
28	chr15:46094200-46095000	Enhancers	Pancreatic Islets	Pancreatic Islet
29	chr15:46094400-46094600	Flanking Active TSS	Liver	Liver
30	chr15:46094400-46094600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
31	chr15:46094400-46094800	Enhancers	Adipose Nuclei	Adipose
32	chr15:46094400-46094800	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr15:46094400-46095200	Enhancers	Fetal Brain Male	brain
34	chr15:46094600-46094800	Enhancers	Liver	Liver
35	chr15:46094600-46095200	Enhancers	Fetal Kidney	kidney
36	chr15:46094600-46095200	Active TSS	Rectal Mucosa Donor 29	rectum
37	chr15:46094800-46095000	Flanking Active TSS	Liver	Liver
38	chr15:46094800-46095200	Active TSS	Rectal Mucosa Donor 31	rectum
39	chr15:46095000-46095200	Enhancers	Liver	Liver
40	chr15:46095200-46096200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr15:46095600-46096400	Enhancers	HMEC	breast
42	chr15:46095800-46096000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr15:46095800-46096200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr15:46095800-46096400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr15:46096000-46096400	Enhancers	NHEK	skin
46	chr15:46096200-46096400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr15:46103000-46103600	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr15:46104000-46105000	Enhancers	Adipose Nuclei	Adipose
49	chr15:46104000-46105400	Enhancers	HUVEC	blood vessel
50	chr15:46119600-46119800	Enhancers	Pancreas	Pancrea

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