Variant report

Variant	esv1620548
Chromosome Location	chr15:45458351-45458352
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOSL2	chr15:45456911-45458443	HepG2	liver:	n/a	n/a
2	POLR2A	chr15:45458133-45458358	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr15:45456792-45459932	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr15:45457893-45460098	GM12878	blood:	n/a	n/a
5	POLR2A	chr15:45458260-45460034	K562	blood:	n/a	n/a
6	POLR2A	chr15:45457255-45458369	HepG2	liver:	n/a	n/a
7	POLR2A	chr15:45457313-45458377	GM12891	blood:	n/a	n/a
8	POLR2A	chr15:45458317-45458474	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr15:45457188-45458371	GM12892	blood:	n/a	n/a
10	POLR2A	chr15:45456690-45460622	HepG2	liver:	n/a	n/a
11	POLR2A	chr15:45456652-45458437	K562	blood:	n/a	n/a
12	POLR2A	chr15:45455127-45458374	GM12878	blood:	n/a	n/a

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:45457607..45459113-chr15:45748789..45750442,2	K562	blood:
2	chr15:45457588..45459238-chr15:45747257..45749159,2	K562	blood:
3	chr15:45457813..45459796-chr15:45472458..45474302,2	MCF-7	breast:
4	chr15:45456638..45458886-chr15:45696035..45698478,2	K562	blood:
5	chr15:45457610..45461525-chr15:45477333..45480560,5	MCF-7	breast:
6	chr15:45449920..45453086-chr15:45456416..45459415,4	K562	blood:
7	chr15:45458064..45460777-chr15:45570184..45573179,2	MCF-7	breast:
8	chr15:45457736..45460170-chr15:45478587..45480947,2	MCF-7	breast:
9	chr15:45457159..45458711-chr15:45469879..45471937,2	MCF-7	breast:
10	chr15:45458146..45462463-chr15:45465556..45468797,6	MCF-7	breast:
11	chr15:45457925..45460364-chr15:45492288..45495049,4	MCF-7	breast:
12	chr15:45456315..45459130-chr15:45878271..45881206,2	K562	blood:
13	chr15:45457064..45458836-chr15:45462821..45464924,2	MCF-7	breast:
14	chr15:45457346..45461990-chr15:45488766..45494297,11	MCF-7	breast:
15	chr15:45457899..45460285-chr15:45489261..45492223,4	MCF-7	breast:
16	chr15:45456567..45458793-chr15:45475778..45478216,2	MCF-7	breast:
17	chr15:45458222..45460718-chr15:45477355..45481212,4	K562	blood:
18	chr15:45457275..45460718-chr15:45477484..45481344,4	K562	blood:
19	chr15:45457999..45463256-chr15:45488727..45493013,8	K562	blood:

No data

Variant related genes	Relation type
ENSG00000259519	TF binding region
ENSG00000259520	chromatin interactions
ENSG00000138606	chromatin interactions
ENSG00000260035	chromatin interactions
ENSG00000260170	chromatin interactions
ENSG00000259932	chromatin interactions
ENSG00000104164	chromatin interactions
ENSG00000171763	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 64 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs397743263	chr15:45458352-45458353	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

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

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45427600-45458600	Weak transcription	Right Atrium	heart
2	chr15:45440400-45458600	Weak transcription	Aorta	Aorta
3	chr15:45449400-45458600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr15:45451400-45458400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr15:45454800-45458600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr15:45455400-45458400	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr15:45455400-45458600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr15:45455400-45458600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr15:45455400-45458600	Weak transcription	A549	lung
10	chr15:45455600-45458600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr15:45455600-45458600	Weak transcription	Placenta	Placenta
12	chr15:45455800-45458600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr15:45455800-45458600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr15:45455800-45458600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr15:45455800-45458600	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr15:45455800-45458600	Weak transcription	Ovary	ovary
17	chr15:45455800-45458600	Weak transcription	Right Ventricle	heart
18	chr15:45455800-45458600	Weak transcription	HSMMtube	muscle
19	chr15:45455800-45458600	Weak transcription	K562	blood
20	chr15:45455800-45458800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr15:45456000-45458600	Weak transcription	Brain Cingulate Gyrus	brain
22	chr15:45456000-45458600	Weak transcription	NH-A	brain
23	chr15:45456000-45458600	Weak transcription	NHLF	lung
24	chr15:45456000-45458600	Weak transcription	Osteobl	bone
25	chr15:45456400-45458600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr15:45456600-45458600	Weak transcription	HSMM	muscle
27	chr15:45456600-45458600	Weak transcription	NHEK	skin
28	chr15:45457000-45458400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr15:45457000-45458600	Enhancers	Primary T cells fromperipheralblood	blood
30	chr15:45457000-45458600	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr15:45457000-45458600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr15:45457000-45458600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr15:45457000-45458600	Enhancers	Duodenum Mucosa	Duodenum
34	chr15:45457000-45458600	Enhancers	Fetal Lung	lung
35	chr15:45457000-45458600	Enhancers	Fetal Stomach	stomach
36	chr15:45457200-45458600	Enhancers	Primary B cells from peripheral blood	blood
37	chr15:45457200-45458600	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr15:45457200-45458600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr15:45457200-45458600	Enhancers	Fetal Brain Male	brain
40	chr15:45457200-45458800	Weak transcription	Gastric	stomach
41	chr15:45457400-45458400	Enhancers	Left Ventricle	heart
42	chr15:45457400-45458600	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr15:45457400-45458600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr15:45457400-45458600	Enhancers	Brain Anterior Caudate	brain
45	chr15:45457400-45458600	Enhancers	Fetal Brain Female	brain
46	chr15:45457400-45458600	Enhancers	Fetal Heart	heart
47	chr15:45457400-45458600	Enhancers	Fetal Muscle Leg	muscle
48	chr15:45457400-45458600	Enhancers	Pancreas	Pancrea
49	chr15:45457400-45458800	Enhancers	Primary hematopoietic stem cells	blood
50	chr15:45457600-45458400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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