Variant report

Variant	esv3449179
Chromosome Location	chr15:72081938-72082152
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr15:72081788-72082308	GM12878	blood:	n/a	n/a
2	BCL3	chr15:72081908-72082285	GM12878	blood:	n/a	n/a
3	GATA3	chr15:72082088-72083239	MCF-7	breast:	n/a	n/a
4	MAX	chr15:72081521-72082084	HepG2	liver:	n/a	n/a
5	MAX	chr15:72081841-72083092	A549	lung:	n/a	n/a
6	MAX	chr15:72081834-72083127	MCF-7	breast:	n/a	n/a
7	MYC	chr15:72082063-72082124	MCF-7	breast:	n/a	n/a
8	NFATC1	chr15:72081932-72082241	GM12878	blood:	n/a	n/a
9	NFATC1	chr15:72081789-72082365	GM12878	blood:	n/a	n/a
10	PBX3	chr15:72081926-72082225	GM12878	blood:	n/a	n/a
11	SIN3AK20	chr15:72082122-72082946	MCF-7	breast:	n/a	n/a
12	STAT5A	chr15:72081900-72082258	GM12878	blood:	n/a	n/a
13	SUZ12	chr15:72081851-72082238	H1-hESC	embryonic stem cell:	n/a	n/a
14	TCF3	chr15:72081840-72082175	GM12878	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:72081235..72083430-chr15:72092419..72093932,2	MCF-7	breast:
2	chr15:71418567..71420752-chr15:72081777..72084193,2	MCF-7	breast:

No data

Variant related genes	Relation type
NR2E3	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376904731	chr15:72081975-72081976	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs571479253	chr15:72081981-72081982	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs375742329	chr15:72081993-72081994	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs1109744	chr15:72081997-72081998	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs115130809	chr15:72082004-72082005	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs572412782	chr15:72082041-72082042	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs147551235	chr15:72082047-72082048	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs554685840	chr15:72082061-72082062	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs376780292	chr15:72082068-72082069	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs142640513	chr15:72082076-72082077	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs560158655	chr15:72082081-72082082	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs543559683	chr15:72082092-72082093	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs35732760	chr15:72082094-72082095	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs565088955	chr15:72082095-72082096	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs573432646	chr15:72082096-72082097	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs398043493	chr15:72082100-72082101	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs542048939	chr15:72082109-72082110	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs146895816	chr15:72082134-72082135	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs189690840	chr15:72082135-72082136	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs555616828	chr15:72082143-72082144	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs574127345	chr15:72082152-72082153	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:83)

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	17122850	CNVD
Acute myeloid leukemia	19651600	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72064400-72082000	Weak transcription	Pancreas	Pancrea
2	chr15:72064600-72082400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr15:72064600-72082400	Weak transcription	NHEK	skin
4	chr15:72070200-72082000	Weak transcription	Esophagus	oesophagus
5	chr15:72070200-72082400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr15:72070800-72082200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr15:72072000-72093200	Weak transcription	Fetal Stomach	stomach
8	chr15:72072800-72082400	Weak transcription	HSMMtube	muscle
9	chr15:72073200-72082000	Weak transcription	Fetal Kidney	kidney
10	chr15:72074600-72082000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr15:72076000-72082800	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr15:72076000-72099000	Weak transcription	Right Atrium	heart
13	chr15:72076400-72084400	Weak transcription	Fetal Heart	heart
14	chr15:72076400-72084400	Weak transcription	Fetal Muscle Trunk	muscle
15	chr15:72077200-72082000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr15:72079200-72082400	Weak transcription	HSMM	muscle
17	chr15:72079400-72085200	Enhancers	HUVEC	blood vessel
18	chr15:72080800-72084800	Enhancers	Fetal Intestine Small	intestine
19	chr15:72080800-72085200	Enhancers	Fetal Intestine Large	intestine
20	chr15:72080800-72085200	Enhancers	Placenta	Placenta
21	chr15:72081000-72082000	Enhancers	HepG2	liver
22	chr15:72081200-72083600	Enhancers	A549	lung
23	chr15:72081400-72085200	Enhancers	HMEC	breast
24	chr15:72081800-72082000	Enhancers	Rectal Mucosa Donor 29	rectum
25	chr15:72081800-72083000	Enhancers	Duodenum Mucosa	Duodenum
26	chr15:72081800-72085200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr15:72081800-72085200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr15:72081800-72085200	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr15:72082000-72082200	Enhancers	Esophagus	oesophagus
30	chr15:72082000-72082200	ZNF genes & repeats	Fetal Kidney	kidney
31	chr15:72082000-72082200	Bivalent Enhancer	HepG2	liver
32	chr15:72082000-72083200	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr15:72082000-72083200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr15:72082000-72083400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr15:72082000-72084400	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr15:72082000-72084800	Enhancers	Pancreas	Pancrea
37	chr15:72082000-72085200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr15:72082000-72085400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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