Variant report

Variant	esv1122032
Chromosome Location	chr15:44121721-44121723
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	chr15:44121516-44121775	K562	blood:	n/a	n/a

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

Variant related genes	Relation type
MFAP1	TF binding region
ENSG00000128886	chromatin interactions
ENSG00000140259	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	rs34835269	chr15:44121722-44121723	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 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:110 , 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	chr15:44119600-44121800	Weak transcription	Placenta	Placenta
3	chr15:44119600-44123000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr15:44119600-44127200	Weak transcription	Left Ventricle	heart
5	chr15:44119600-44127200	Weak transcription	Ovary	ovary
6	chr15:44119600-44127600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr15:44119600-44127600	Weak transcription	Gastric	stomach
8	chr15:44119600-44130600	Weak transcription	Brain Anterior Caudate	brain
9	chr15:44119600-44134400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr15:44119600-44135200	Weak transcription	Lung	lung
11	chr15:44119600-44142000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr15:44119600-44143200	Weak transcription	Aorta	Aorta
13	chr15:44119600-44143400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr15:44119600-44150600	Weak transcription	Esophagus	oesophagus
15	chr15:44119600-44151000	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr15:44119600-44156400	Weak transcription	Pancreas	Pancrea
17	chr15:44119600-44166000	Weak transcription	Spleen	Spleen
18	chr15:44119600-44169400	Weak transcription	Fetal Intestine Large	intestine
19	chr15:44119600-44172800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr15:44119600-44181800	Weak transcription	Small Intestine	intestine
21	chr15:44119600-44183200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr15:44119800-44122800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr15:44119800-44127600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr15:44119800-44144400	Weak transcription	Right Ventricle	heart
25	chr15:44119800-44166400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr15:44120200-44122400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr15:44120200-44124400	Weak transcription	Fetal Intestine Small	intestine
28	chr15:44120200-44126400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr15:44120200-44126800	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr15:44120200-44126800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr15:44120200-44127800	Weak transcription	Primary B cells from cord blood	blood
32	chr15:44120200-44128000	Weak transcription	Adipose Nuclei	Adipose
33	chr15:44120200-44150800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr15:44120400-44123800	Weak transcription	Fetal Muscle Trunk	muscle
35	chr15:44120400-44125400	Enhancers	Primary T cells fromperipheralblood	blood
36	chr15:44120400-44127000	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr15:44120400-44128000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr15:44120400-44143000	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr15:44120600-44121800	Weak transcription	Primary B cells from peripheral blood	blood
40	chr15:44120600-44122200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr15:44120600-44122400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr15:44120600-44126800	Weak transcription	Fetal Muscle Leg	muscle
43	chr15:44120600-44127000	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr15:44120600-44127200	Weak transcription	Primary hematopoietic stem cells	blood
45	chr15:44120600-44127200	Weak transcription	Thymus	Thymus
46	chr15:44120600-44127400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr15:44120600-44127400	Weak transcription	Colon Smooth Muscle	Colon
48	chr15:44120600-44127600	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr15:44120600-44127600	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr15:44120600-44133800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links