Variant report

Variant	nsv904335
Chromosome Location	chr15:72018469-72064719
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:41)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:41 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:72021844..72025193-chr15:72027846..72030756,3	MCF-7	breast:
2	chr15:72043111..72044896-chr15:72046239..72048374,2	K562	blood:
3	chr15:72040056..72042121-chr15:72044649..72046510,3	MCF-7	breast:
4	chr15:72040056..72042121-chr15:72044649..72046510,3	MCF-7	breast:
5	chr15:71825046..71826311-chr15:72022628..72023519,3	MCF-7	breast:
6	chr15:72033554..72035831-chr15:72037556..72039339,2	MCF-7	breast:
7	chr15:72039979..72042756-chr15:72042762..72047195,4	MCF-7	breast:
8	chr15:72036167..72038403-chr15:72039490..72042103,3	MCF-7	breast:
9	chr15:72035950..72036579-chr15:72447850..72448622,2	MCF-7	breast:
10	chr15:72035959..72036924-chr15:72093401..72094192,4	K562	blood:
11	chr15:71867418..71868415-chr15:72022368..72023581,8	MCF-7	breast:
12	chr15:72035964..72037219-chr15:72093215..72094100,4	MCF-7	breast:
13	chr15:72039979..72042756-chr15:72042762..72047195,4	MCF-7	breast:
14	chr15:72045064..72045725-chr15:72093586..72094173,3	MCF-7	breast:
15	chr15:71735513..71736163-chr15:72022819..72023523,2	MCF-7	breast:
16	chr15:72036167..72038403-chr15:72039490..72042103,3	MCF-7	breast:
17	chr15:72050208..72052431-chr15:72052692..72054647,2	K562	blood:
18	chr15:71919176..71921594-chr15:72024992..72027078,2	MCF-7	breast:
19	chr15:72036045..72036916-chr17:57922456..57923277,2	Hela-S3	cervix:
20	chr15:72050208..72052431-chr15:72052692..72054647,2	K562	blood:
21	chr15:72061256..72063166-chr15:72071067..72072827,2	MCF-7	breast:
22	chr15:71740704..71741615-chr15:72022610..72023242,3	MCF-7	breast:
23	chr15:72040432..72042669-chr15:72043412..72046159,2	K562	blood:
24	chr15:72040432..72042669-chr15:72043412..72046159,2	K562	blood:
25	chr15:71740693..71741558-chr15:72022676..72023392,2	K562	blood:
26	chr15:72043111..72044896-chr15:72046239..72048374,2	K562	blood:
27	chr15:72016048..72017997-chr15:72020066..72022760,2	MCF-7	breast:
28	chr15:72045078..72045591-chr15:72448055..72448912,2	MCF-7	breast:
29	chr15:72044656..72045647-chr15:72072459..72073265,3	MCF-7	breast:
30	chr15:72037094..72041043-chr15:72082169..72084915,5	MCF-7	breast:
31	chr15:72036231..72036865-chr15:72448122..72448795,2	K562	blood:
32	chr15:72045149..72045729-chr15:72448063..72448589,2	K562	blood:
33	chr15:71944243..71944899-chr15:72022551..72023506,2	MCF-7	breast:
34	chr15:71543905..71545811-chr15:72039685..72042619,2	MCF-7	breast:
35	chr15:72022171..72024073-chr15:72028306..72030232,2	MCF-7	breast:
36	chr15:72033554..72035831-chr15:72037556..72039339,2	MCF-7	breast:
37	chr15:72021844..72025193-chr15:72027846..72030756,3	MCF-7	breast:
38	chr15:71407319..71408847-chr15:72052666..72054334,2	MCF-7	breast:
39	chr15:72022171..72024073-chr15:72028306..72030232,2	MCF-7	breast:
40	chr15:72051438..72054310-chr15:72082201..72084354,2	MCF-7	breast:
41	chr15:71951460..71952108-chr15:72022511..72023365,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000225362	chromatin interactions

Extended variants
information (count: 2008 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:2008 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4777450	chr15:72018469-72018470	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs536240019	chr15:72018480-72018481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs8037434	chr15:72018533-72018534	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs151336767	chr15:72018544-72018545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs140602578	chr15:72018552-72018553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs187632022	chr15:72018576-72018577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs575071079	chr15:72018592-72018593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs114695717	chr15:72018597-72018598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs191284723	chr15:72018612-72018613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs28663101	chr15:72018667-72018668	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs114109972	chr15:72018714-72018715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs537477958	chr15:72018836-72018837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560047989	chr15:72018856-72018857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs536569080	chr15:72018876-72018877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs573467841	chr15:72018878-72018879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs11633690	chr15:72018933-72018934	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs565507630	chr15:72018972-72018973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs531110077	chr15:72019002-72019003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs11633667	chr15:72019051-72019052	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs369770711	chr15:72019054-72019055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561220726	chr15:72019094-72019095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs530159035	chr15:72019105-72019106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs546685598	chr15:72019106-72019107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544768113	chr15:72019117-72019118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558666287	chr15:72019141-72019142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566820722	chr15:72019151-72019152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538565783	chr15:72019201-72019202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs116842400	chr15:72019232-72019233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs568749416	chr15:72019236-72019237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs141307416	chr15:72019245-72019246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs554697743	chr15:72019246-72019247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs145028938	chr15:72019253-72019254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs138725441	chr15:72019263-72019264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs73430283	chr15:72019301-72019302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs576885383	chr15:72019363-72019364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs183476050	chr15:72019377-72019378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs143652550	chr15:72019383-72019384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs559284097	chr15:72019430-72019431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs11633926	chr15:72019436-72019437	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs8041646	chr15:72019454-72019455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs561490826	chr15:72019482-72019483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs376285311	chr15:72019493-72019494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs530150028	chr15:72019495-72019496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs8041918	chr15:72019504-72019505	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs148280234	chr15:72019540-72019541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs528326509	chr15:72019543-72019544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs142875638	chr15:72019564-72019565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs12916372	chr15:72019574-72019575	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs8042236	chr15:72019591-72019592	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs13379892	chr15:72019604-72019605	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	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
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	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Prostate cancer	16573809	CNVD
Autism	17322880	CNVD
Autism	20678247	CNVD
Retinoblastoma	21504564	CNVD
Matthew-Wood syndrome	21085971	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Urothelial cell carcinoma	18451213	CNVD
phobic disorder	16773131	CNVD
Autism	21480499	CNVD
Disorders of sex development	22290220	CNVD
Mental retardation	19951919	CNVD
Mental retardation	16773131	CNVD
T-cell lymphomas	19863542	CNVD
15q24 microdeletion syndrome	22180641	CNVD
15q24 microdeletion syndrome	19921647	CNVD
Disease	22216833	CNVD
Mental retardation	17360722	CNVD
15q24 microdeletion syndrome	22216833	CNVD
15q24 microdeletion syndrome	22283845	CNVD
Developmental delay	17932688	CNVD
craniofacial dysmorphism	17932688	CNVD
digital and genital abnormalities	17932688	CNVD
Mental retardation	17621639	CNVD
Autism	20808228	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	17440070	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Acute myeloid leukemia	19651600	CNVD

Chromatin state (count:802 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72000800-72023400	Weak transcription	Fetal Intestine Small	intestine
2	chr15:72002400-72022600	Weak transcription	Fetal Muscle Trunk	muscle
3	chr15:72002600-72022600	Weak transcription	Fetal Muscle Leg	muscle
4	chr15:72005800-72024600	Weak transcription	Left Ventricle	heart
5	chr15:72009200-72030000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr15:72009800-72020800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr15:72010200-72020800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr15:72010200-72023400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr15:72017000-72018800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr15:72017000-72018800	Enhancers	Hela-S3	cervix
11	chr15:72017000-72048800	Weak transcription	Placenta	Placenta
12	chr15:72018000-72020400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr15:72018000-72021000	Weak transcription	NHEK	skin
14	chr15:72018000-72022200	Weak transcription	NHLF	lung
15	chr15:72018200-72019200	Weak transcription	Fetal Heart	heart
16	chr15:72018200-72022400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr15:72018200-72024800	Weak transcription	A549	lung
18	chr15:72018400-72020400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr15:72018400-72021000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr15:72018800-72021000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr15:72018800-72022200	Weak transcription	Hela-S3	cervix
22	chr15:72019200-72019600	Enhancers	Fetal Heart	heart
23	chr15:72019200-72023800	Weak transcription	Fetal Intestine Large	intestine
24	chr15:72019200-72030400	Weak transcription	Lung	lung
25	chr15:72019400-72019600	Enhancers	Esophagus	oesophagus
26	chr15:72019600-72020800	Weak transcription	Fetal Stomach	stomach
27	chr15:72019600-72022200	Weak transcription	Fetal Heart	heart
28	chr15:72019600-72030000	Weak transcription	Esophagus	oesophagus
29	chr15:72019800-72023800	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr15:72020200-72039000	Weak transcription	Pancreas	Pancrea
31	chr15:72020400-72020800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr15:72020400-72025800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr15:72020600-72021200	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr15:72020600-72021400	Enhancers	Stomach Mucosa	stomach
35	chr15:72020800-72021200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr15:72020800-72021400	Strong transcription	Fetal Stomach	stomach
37	chr15:72020800-72021600	Enhancers	Liver	Liver
38	chr15:72020800-72022400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr15:72020800-72023200	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr15:72021000-72021200	Enhancers	Rectal Mucosa Donor 29	rectum
41	chr15:72021000-72021400	Enhancers	Fetal Lung	lung
42	chr15:72021000-72021400	Strong transcription	NHEK	skin
43	chr15:72021000-72022400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr15:72021000-72022800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr15:72021200-72021600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr15:72021200-72021600	Enhancers	Brain Cingulate Gyrus	brain
47	chr15:72021200-72021600	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr15:72021200-72021600	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr15:72021200-72022000	Enhancers	Colon Smooth Muscle	Colon
50	chr15:72021200-72024400	Weak transcription	Rectal Mucosa Donor 29	rectum

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