Variant report

Variant	nsv1045763
Chromosome Location	chr15:62394214-62428833
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:31)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:31 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:62395104..62396839-chr15:62401865..62403392,2	MCF-7	breast:
2	chr15:62415403..62418255-chr15:62425771..62428286,2	MCF-7	breast:
3	chr15:62396387..62398546-chr15:62399067..62401916,2	K562	blood:
4	chr15:62425296..62427351-chr15:62428714..62431330,2	K562	blood:
5	chr15:62404237..62407015-chr15:62413991..62417886,3	MCF-7	breast:
6	chr15:62404237..62407015-chr15:62413991..62417886,3	MCF-7	breast:
7	chr15:62411758..62413681-chr15:62413815..62416504,2	MCF-7	breast:
8	chr15:62396387..62398546-chr15:62399067..62401916,2	K562	blood:
9	chr15:62384998..62387362-chr15:62405119..62407179,2	MCF-7	breast:
10	chr15:62380689..62381370-chr15:62404960..62405638,2	MCF-7	breast:
11	chr15:62415403..62418255-chr15:62425771..62428286,2	MCF-7	breast:
12	chr15:62378489..62380193-chr15:62393233..62395405,2	MCF-7	breast:
13	chr15:62404283..62406965-chr15:62412618..62414723,3	MCF-7	breast:
14	chr15:62392346..62394470-chr15:62402926..62405043,2	MCF-7	breast:
15	chr15:62367794..62369962-chr15:62404995..62406833,2	MCF-7	breast:
16	chr15:62351000..62353860-chr15:62402540..62404711,2	MCF-7	breast:
17	chr15:62404283..62406965-chr15:62412618..62414723,3	MCF-7	breast:
18	chr15:62411758..62413681-chr15:62413815..62416504,2	MCF-7	breast:
19	chr15:62405137..62407600-chr15:62415189..62417335,2	MCF-7	breast:
20	chr15:62392346..62394470-chr15:62402926..62405043,2	MCF-7	breast:
21	chr15:62389894..62391513-chr15:62402972..62404800,2	MCF-7	breast:
22	chr15:62405137..62407600-chr15:62415189..62417335,2	MCF-7	breast:
23	chr15:62425296..62427351-chr15:62428714..62431330,2	K562	blood:
24	chr15:62383398..62385964-chr15:62400537..62403019,2	MCF-7	breast:
25	chr15:62363317..62365501-chr15:62398069..62400481,2	MCF-7	breast:
26	chr15:62395104..62396839-chr15:62401865..62403392,2	MCF-7	breast:
27	chr15:62403250..62406023-chr15:62410570..62412647,3	MCF-7	breast:
28	chr15:62403250..62406023-chr15:62410570..62412647,3	MCF-7	breast:
29	chr15:62378815..62381663-chr15:62419269..62421288,2	MCF-7	breast:
30	chr15:62379222..62381891-chr15:62428344..62430839,2	MCF-7	breast:
31	chr15:62417357..62418191-chr15:62434676..62435376,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000129003	chromatin interactions
ENSG00000259251	chromatin interactions

Extended variants
information (count: 1390 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:1390 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373628013	chr15:62394214-62394215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs555908006	chr15:62394233-62394234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs572074007	chr15:62394246-62394247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs8037894	chr15:62394264-62394265	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs72625749	chr15:62394268-62394269	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs192807097	chr15:62394284-62394285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs141825161	chr15:62394301-62394302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs145502638	chr15:62394303-62394304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs11858355	chr15:62394324-62394325	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs8038040	chr15:62394339-62394340	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs566393535	chr15:62394380-62394381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539414748	chr15:62394383-62394384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs8037796	chr15:62394385-62394386	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs552818215	chr15:62394396-62394397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112982662	chr15:62394403-62394404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs569755685	chr15:62394412-62394413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551664438	chr15:62394419-62394420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537193486	chr15:62394426-62394427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572519110	chr15:62394428-62394429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541381892	chr15:62394470-62394471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555247858	chr15:62394483-62394484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs573812913	chr15:62394496-62394497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547461951	chr15:62394525-62394526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs6494306	chr15:62394540-62394541	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs200156407	chr15:62394547-62394548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528145366	chr15:62394601-62394602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552819947	chr15:62394609-62394610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184264316	chr15:62394638-62394639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189326543	chr15:62394665-62394666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs6494307	chr15:62394690-62394691	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs576457933	chr15:62394696-62394697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs543924883	chr15:62394738-62394739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs78586611	chr15:62394791-62394792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs529458159	chr15:62394800-62394801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375123945	chr15:62394808-62394809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369444829	chr15:62394819-62394820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541670125	chr15:62394875-62394876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371828222	chr15:62394893-62394894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs544285758	chr15:62394916-62394917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs564557097	chr15:62395010-62395011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs116204535	chr15:62395027-62395028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533706701	chr15:62395031-62395032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs138013883	chr15:62395136-62395137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192749314	chr15:62395187-62395188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7161785	chr15:62395224-62395225	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs183986256	chr15:62395238-62395239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs549026748	chr15:62395240-62395241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs560727509	chr15:62395242-62395243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs111461210	chr15:62395255-62395256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs534768109	chr15:62395259-62395260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
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
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Holoprosencephaly	21359414	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Mental retardation	17124404	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Pancreatic cancer	17952125	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:791 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:62391600-62396000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr15:62391800-62396400	Weak transcription	HSMMtube	muscle
3	chr15:62391800-62400000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr15:62391800-62400400	Weak transcription	Adipose Nuclei	Adipose
5	chr15:62392000-62395200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr15:62392000-62396200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr15:62392000-62396400	Weak transcription	Hela-S3	cervix
8	chr15:62394400-62397600	Weak transcription	Right Atrium	heart
9	chr15:62395200-62396800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr15:62395800-62397800	Enhancers	Fetal Muscle Leg	muscle
11	chr15:62396000-62397000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr15:62396200-62397000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr15:62396400-62397000	Enhancers	Hela-S3	cervix
14	chr15:62396400-62397200	Enhancers	HSMMtube	muscle
15	chr15:62396600-62397000	Enhancers	Fetal Muscle Trunk	muscle
16	chr15:62396800-62401800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr15:62397000-62399400	Weak transcription	Hela-S3	cervix
18	chr15:62397000-62400000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr15:62397000-62400000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr15:62397000-62402200	Weak transcription	Fetal Muscle Trunk	muscle
21	chr15:62397200-62399800	Weak transcription	HSMMtube	muscle
22	chr15:62397200-62402200	Weak transcription	Stomach Smooth Muscle	stomach
23	chr15:62397600-62397800	ZNF genes & repeats	Right Atrium	heart
24	chr15:62397600-62399000	Enhancers	Fetal Kidney	kidney
25	chr15:62397800-62398000	Enhancers	Gastric	stomach
26	chr15:62397800-62400000	Weak transcription	Fetal Muscle Leg	muscle
27	chr15:62397800-62400200	Weak transcription	Right Atrium	heart
28	chr15:62398000-62400000	Weak transcription	Gastric	stomach
29	chr15:62398400-62398600	Enhancers	Psoas Muscle	Psoas
30	chr15:62399000-62400000	Weak transcription	Fetal Kidney	kidney
31	chr15:62399000-62400200	Weak transcription	Psoas Muscle	Psoas
32	chr15:62399400-62402200	Enhancers	Hela-S3	cervix
33	chr15:62399400-62404200	Enhancers	Fetal Intestine Small	intestine
34	chr15:62399600-62401400	Enhancers	HUVEC	blood vessel
35	chr15:62399800-62400200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr15:62399800-62400200	Enhancers	HSMMtube	muscle
37	chr15:62399800-62400400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr15:62399800-62400400	Enhancers	Stomach Mucosa	stomach
39	chr15:62399800-62400600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr15:62399800-62400600	Enhancers	NHEK	skin
41	chr15:62399800-62400800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr15:62399800-62400800	Enhancers	A549	lung
43	chr15:62400000-62400200	Enhancers	Placenta Amnion	Placenta Amnion
44	chr15:62400000-62400200	Enhancers	Rectal Mucosa Donor 29	rectum
45	chr15:62400000-62400400	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr15:62400000-62400400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr15:62400000-62400400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr15:62400000-62400400	Enhancers	Fetal Kidney	kidney
49	chr15:62400000-62400400	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr15:62400000-62400400	Enhancers	NHDF-Ad	bronchial

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