Variant report

Variant	esv1088093
Chromosome Location	chr15:34602407-34602409
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA2	chr15:34602375-34603003	K562	blood:	n/a	n/a
2	IRF4	chr15:34602239-34603050	GM12878	blood:	n/a	n/a
3	NR3C1	chr15:34602335-34603054	A549	lung:	n/a	n/a
4	NR3C1	chr15:34602223-34603045	A549	lung:	n/a	n/a
5	PAX5	chr15:34602223-34603073	GM12878	blood:	n/a	n/a
6	POLR2A	chr15:34602212-34603177	GM12891	blood:	n/a	n/a
7	POLR2A	chr15:34602333-34602583	A549	lung:	n/a	n/a
8	POLR2A	chr15:34602295-34603030	GM12878	blood:	n/a	n/a
9	POLR2A	chr15:34602221-34603195	GM12878	blood:	n/a	n/a
10	POLR2A	chr15:34602247-34603059	GM12878	blood:	n/a	n/a
11	POLR2A	chr15:34602236-34603189	GM12891	blood:	n/a	n/a
12	POLR2A	chr15:34602270-34603141	GM12891	blood:	n/a	n/a
13	POLR2A	chr15:34602306-34603071	GM12878	blood:	n/a	n/a
14	POLR2A	chr15:34602226-34603135	GM12892	blood:	n/a	n/a
15	POLR2A	chr15:34602368-34602696	H1-hESC	embryonic stem cell:	n/a	n/a
16	POU2F2	chr15:34602236-34603075	GM12878	blood:	n/a	n/a
17	ZBTB33	chr15:34602368-34602881	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:34598914..34602759-chr15:34631261..34635438,4	K562	blood:
2	chr15:34597292..34600237-chr15:34600566..34603010,2	K562	blood:
3	chr15:34600219..34602527-chr15:34605319..34607496,2	K562	blood:
4	chr15:34546535..34549806-chr15:34599595..34603199,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000207091	TF binding region
ENSG00000207091	chromatin interactions
ENSG00000182117	chromatin interactions
ENSG00000259468	chromatin interactions

Extended variants
information (count: 2 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71415559	chr15:34602408-34602409	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs60783164	chr15:34602409-34602410	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
HDAC8	0	CNVD
NIPBL	0	CNVD
RAD21	0	CNVD
SMC1A	0	CNVD
SMC3	0	CNVD
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Angelman syndrome	16183798	CNVD
Acute lymphoblastic leukemia	20067559	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
Hodgkin''s lymphoma	18641027	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
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	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
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Abnormal corpus callosum	21572526	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	19204725	CNVD
Schizophrenia	19204725	CNVD
Schizophrenia	19149910	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Legius syndrome	19443465	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Prader-willi syndrome	21504564	CNVD
Cancer	17440070	CNVD
Basal cell lymphoma	17053054	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	18458336	CNVD

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:34551200-34608800	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr15:34555200-34606600	Weak transcription	Thymus	Thymus
3	chr15:34577600-34608800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr15:34577600-34610200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr15:34577800-34608800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr15:34578200-34606800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr15:34579000-34603800	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr15:34582600-34609600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr15:34582600-34610200	Weak transcription	Fetal Lung	lung
10	chr15:34583400-34609600	Weak transcription	Adipose Nuclei	Adipose
11	chr15:34583800-34610600	Weak transcription	Pancreas	Pancrea
12	chr15:34585000-34609600	Weak transcription	Spleen	Spleen
13	chr15:34585000-34610600	Weak transcription	Lung	lung
14	chr15:34585200-34609600	Weak transcription	Fetal Stomach	stomach
15	chr15:34585200-34615600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr15:34585400-34608600	Weak transcription	Liver	Liver
17	chr15:34585800-34604600	Weak transcription	Fetal Intestine Large	intestine
18	chr15:34585800-34610400	Weak transcription	Ovary	ovary
19	chr15:34586600-34609800	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr15:34587000-34610200	Weak transcription	Fetal Intestine Small	intestine
21	chr15:34587800-34604400	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr15:34589800-34610600	Weak transcription	Brain Cingulate Gyrus	brain
23	chr15:34590000-34609000	Weak transcription	Colon Smooth Muscle	Colon
24	chr15:34590000-34610400	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr15:34590000-34610600	Weak transcription	Small Intestine	intestine
26	chr15:34590200-34603800	Weak transcription	Primary B cells from peripheral blood	blood
27	chr15:34590400-34604200	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr15:34592200-34608400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr15:34592600-34603800	Weak transcription	Primary T cells from cord blood	blood
30	chr15:34593000-34610600	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr15:34593600-34605400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr15:34593800-34609000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr15:34594000-34607000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr15:34594000-34609400	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr15:34594000-34610600	Weak transcription	Gastric	stomach
36	chr15:34594400-34605800	Weak transcription	Fetal Heart	heart
37	chr15:34596000-34610200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr15:34596400-34610200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr15:34597400-34610000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr15:34597400-34610000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr15:34597400-34610200	Weak transcription	NHLF	lung
42	chr15:34597600-34606600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr15:34597600-34606600	Weak transcription	Osteobl	bone
44	chr15:34597800-34606600	Weak transcription	HepG2	liver
45	chr15:34598400-34607000	Weak transcription	Brain Angular Gyrus	brain
46	chr15:34598600-34610800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr15:34598800-34609600	Weak transcription	Left Ventricle	heart
48	chr15:34598800-34609600	Weak transcription	Right Ventricle	heart
49	chr15:34599000-34605800	Weak transcription	Aorta	Aorta
50	chr15:34599200-34610400	Weak transcription	Fetal Thymus	thymus

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