Variant report

Variant	esv1669583
Chromosome Location	chr15:44121116-44121117
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr15:44121017-44121190	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:44116010..44118806-chr15:44119254..44122105,3	K562	blood:
2	chr15:44112442..44117510-chr15:44119138..44122295,7	K562	blood:
3	chr15:44082965..44094882-chr15:44108427..44121402,26	K562	blood:
4	chr15:44069535..44071546-chr15:44121080..44123545,2	K562	blood:

Variant related genes	Relation type
MFAP1	TF binding region
ENSG00000184716	chromatin interactions
ENSG00000242028	chromatin interactions
ENSG00000128886	chromatin interactions
ENSG00000140259	chromatin interactions
ENSG00000140264	chromatin interactions
ENSG00000221792	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 62 )

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	rs398043222	chr15:44121117-44121118	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Oral squamous cell carcinoma	17134496	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
Renal cell carcinoma	18765545	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
Mental retardation	17124404	CNVD

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44117400-44150200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr15:44118600-44121200	Active TSS	Brain Germinal Matrix	brain
3	chr15:44118800-44121400	Active TSS	GM12878-XiMat	blood
4	chr15:44119600-44121800	Weak transcription	Placenta	Placenta
5	chr15:44119600-44123000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr15:44119600-44127200	Weak transcription	Left Ventricle	heart
7	chr15:44119600-44127200	Weak transcription	Ovary	ovary
8	chr15:44119600-44127600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr15:44119600-44127600	Weak transcription	Gastric	stomach
10	chr15:44119600-44130600	Weak transcription	Brain Anterior Caudate	brain
11	chr15:44119600-44134400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr15:44119600-44135200	Weak transcription	Lung	lung
13	chr15:44119600-44142000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr15:44119600-44143200	Weak transcription	Aorta	Aorta
15	chr15:44119600-44143400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr15:44119600-44150600	Weak transcription	Esophagus	oesophagus
17	chr15:44119600-44151000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr15:44119600-44156400	Weak transcription	Pancreas	Pancrea
19	chr15:44119600-44166000	Weak transcription	Spleen	Spleen
20	chr15:44119600-44169400	Weak transcription	Fetal Intestine Large	intestine
21	chr15:44119600-44172800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr15:44119600-44181800	Weak transcription	Small Intestine	intestine
23	chr15:44119600-44183200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr15:44119800-44121600	Enhancers	Fetal Heart	heart
25	chr15:44119800-44122800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr15:44119800-44127600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr15:44119800-44144400	Weak transcription	Right Ventricle	heart
28	chr15:44119800-44166400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr15:44120000-44121200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr15:44120200-44121200	Active TSS	Fetal Thymus	thymus
31	chr15:44120200-44121400	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr15:44120200-44122400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr15:44120200-44124400	Weak transcription	Fetal Intestine Small	intestine
34	chr15:44120200-44126400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr15:44120200-44126800	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr15:44120200-44126800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr15:44120200-44127800	Weak transcription	Primary B cells from cord blood	blood
38	chr15:44120200-44128000	Weak transcription	Adipose Nuclei	Adipose
39	chr15:44120200-44150800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr15:44120400-44121400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
41	chr15:44120400-44121600	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
42	chr15:44120400-44121600	Transcr. at gene 5' and 3'	K562	blood
43	chr15:44120400-44123800	Weak transcription	Fetal Muscle Trunk	muscle
44	chr15:44120400-44125400	Enhancers	Primary T cells fromperipheralblood	blood
45	chr15:44120400-44127000	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr15:44120400-44128000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr15:44120400-44143000	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr15:44120600-44121400	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr15:44120600-44121400	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr15:44120600-44121400	Enhancers	Cortex derived primary cultured neurospheres	brain

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