Variant report

Variant	nsv516288
Chromosome Location	chr15:99855009-99856849
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:30)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:30 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr15:99856134-99856158	H1-hESC	embryonic stem cell:	n/a	n/a
2	CBX3	chr15:99855814-99856323	HCT-116	colon:	n/a	n/a
3	EP300	chr15:99855703-99856432	ECC-1	luminal epithelium:	n/a	n/a
4	FOS	chr15:99855920-99856135	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr15:99855981-99856136	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr15:99855923-99856168	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr15:99855907-99856197	MCF10A-Er-Src	breast:	n/a	n/a
8	FOSL1	chr15:99855785-99856382	HCT-116	colon:	n/a	n/a
9	GATA3	chr15:99855781-99856133	MCF-7	breast:	n/a	n/a
10	JUND	chr15:99855780-99856160	HCT-116	colon:	n/a	n/a
11	JUND	chr15:99855967-99856207	H1-hESC	embryonic stem cell:	n/a	n/a
12	JUND	chr15:99855773-99856351	HCT-116	colon:	n/a	n/a
13	MYC	chr15:99855854-99856147	MCF10A-Er-Src	breast:	n/a	n/a
14	NFE2	chr15:99856062-99856086	GM12878	blood:	n/a	n/a
15	NFIC	chr15:99855780-99856269	ECC-1	luminal epithelium:	n/a	n/a
16	RCOR1	chr15:99856007-99856020	Hela-S3	cervix:	n/a	n/a
17	STAT3	chr15:99855921-99856156	MCF10A-Er-Src	breast:	n/a	n/a
18	STAT3	chr15:99855902-99856178	MCF10A-Er-Src	breast:	n/a	n/a
19	STAT3	chr15:99855903-99856183	MCF10A-Er-Src	breast:	n/a	n/a
20	STAT3	chr15:99855912-99856204	MCF10A-Er-Src	breast:	n/a	n/a
21	TCF12	chr15:99855692-99856283	SK-N-SH	brain:	n/a	n/a
22	TCF12	chr15:99855666-99856360	SK-N-SH	brain:	n/a	n/a
23	TCF12	chr15:99855646-99856353	ECC-1	luminal epithelium:	n/a	n/a
24	TCF12	chr15:99855847-99856338	ECC-1	luminal epithelium:	n/a	n/a
25	TEAD4	chr15:99855894-99856141	H1-hESC	embryonic stem cell:	n/a	n/a
26	TEAD4	chr15:99855844-99856282	ECC-1	luminal epithelium:	n/a	n/a
27	TEAD4	chr15:99855861-99856268	ECC-1	luminal epithelium:	n/a	n/a
28	TEAD4	chr15:99855943-99856157	H1-hESC	embryonic stem cell:	n/a	n/a
29	TEAD4	chr15:99855887-99856297	HCT-116	colon:	n/a	n/a
30	TEAD4	chr15:99855870-99856201	HCT-116	colon:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:99846877..99849995-chr15:99854925..99857345,3	MCF-7	breast:
2	chr15:99856565..99859133-chr15:99884132..99886600,2	MCF-7	breast:
3	chr15:99856389..99859314-chr15:99863031..99866195,3	MCF-7	breast:

No data

Variant related genes	Relation type
LRRC28	TF binding region

Extended variants
information (count: 50 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:50 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1510058	chr15:99855009-99855010	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs549014881	chr15:99855010-99855011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs149521772	chr15:99855035-99855036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs115892311	chr15:99855122-99855123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs368604244	chr15:99855145-99855146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549826196	chr15:99855317-99855318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188028515	chr15:99855319-99855320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs375170377	chr15:99855366-99855367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561862211	chr15:99855410-99855411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191249809	chr15:99855442-99855443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs202184741	chr15:99855465-99855466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs144025996	chr15:99855473-99855474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs138894326	chr15:99855476-99855477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs142356260	chr15:99855505-99855506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs62023807	chr15:99855510-99855511	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs565627767	chr15:99855514-99855515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs182765902	chr15:99855602-99855603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs539540154	chr15:99855769-99855770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs551544795	chr15:99855824-99855825	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs142014765	chr15:99855836-99855837	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs577421206	chr15:99855837-99855838	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs187839458	chr15:99855854-99855855	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs71403443	chr15:99855966-99855967	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs544774977	chr15:99856004-99856005	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs541128498	chr15:99856060-99856061	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs556697322	chr15:99856065-99856066	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs12915819	chr15:99856091-99856092	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs201123636	chr15:99856116-99856117	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs549233266	chr15:99856117-99856118	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs561055022	chr15:99856152-99856153	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs536113451	chr15:99856186-99856187	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs146307715	chr15:99856187-99856188	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs571266073	chr15:99856205-99856206	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs538695708	chr15:99856237-99856238	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs139474490	chr15:99856241-99856242	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs192610138	chr15:99856319-99856320	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs375897276	chr15:99856325-99856326	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs183352208	chr15:99856332-99856333	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs576708300	chr15:99856435-99856436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs35036182	chr15:99856446-99856447	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs558634075	chr15:99856447-99856448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs576837402	chr15:99856584-99856585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs139977527	chr15:99856602-99856603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs559443326	chr15:99856636-99856637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs571888228	chr15:99856680-99856681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs35228696	chr15:99856696-99856697	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs36142838	chr15:99856834-99856835	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs149834319	chr15:99856835-99856836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs144646493	chr15:99856844-99856845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs11247079	chr15:99856849-99856850	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:65)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	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
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
Gastrointestinal stromal cancer	16982739	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Sudden cardiac death	19188705	CNVD
Intellectual disability	22102821	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian cancer	21720365	CNVD
Developmental delay	21147756	CNVD
Hepatocellular carcinoma	16750200	CNVD
Central neurocytomas	17123091	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	20811773	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	21364760	CNVD
Breast cancer	20409316	CNVD
Emphysema	19352772	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17142309	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:99793000-99866600	Weak transcription	Gastric	stomach
2	chr15:99833200-99875800	Weak transcription	Thymus	Thymus
3	chr15:99835200-99864200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr15:99847200-99856000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr15:99847400-99877200	Weak transcription	Ovary	ovary
6	chr15:99848200-99860800	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr15:99848400-99860600	Weak transcription	HepG2	liver
8	chr15:99848400-99860800	Weak transcription	NH-A	brain
9	chr15:99850400-99863800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr15:99853000-99876000	Weak transcription	Duodenum Mucosa	Duodenum
11	chr15:99853200-99875400	Weak transcription	Fetal Thymus	thymus
12	chr15:99853600-99875800	Weak transcription	Fetal Intestine Large	intestine
13	chr15:99853800-99855800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr15:99854200-99855200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr15:99854200-99856000	Weak transcription	A549	lung
16	chr15:99854200-99860600	Weak transcription	Liver	Liver
17	chr15:99854200-99864200	Weak transcription	Left Ventricle	heart
18	chr15:99854400-99860600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr15:99854400-99863600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr15:99854400-99864000	Weak transcription	Primary B cells from peripheral blood	blood
21	chr15:99854400-99876000	Weak transcription	Dnd41	blood
22	chr15:99854600-99855800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr15:99854600-99856000	Weak transcription	Pancreas	Pancrea
24	chr15:99855600-99856200	Enhancers	NHEK	skin
25	chr15:99855800-99856200	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr15:99855800-99856200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr15:99856000-99856200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr15:99856000-99856200	Enhancers	HMEC	breast
29	chr15:99856000-99856200	Enhancers	HUVEC	blood vessel
30	chr15:99856000-99857200	Enhancers	A549	lung
31	chr15:99856200-99857800	Weak transcription	HUVEC	blood vessel
32	chr15:99856200-99860400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr15:99856200-99860400	Weak transcription	HMEC	breast
34	chr15:99856200-99860400	Weak transcription	NHEK	skin
35	chr15:99856200-99860600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr15:99856200-99860600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr15:99856600-99856800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr15:99856800-99860800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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