Variant report

Variant	esv3443684
Chromosome Location	chr15:55972456-55972651
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	POLR2A	chr15:55972388-55972467	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
PRTG	TF binding region
ENSG00000259180	TF binding region

Extended variants
information (count: 4 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543357780	chr15:55972511-55972512	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs576456	chr15:55972515-55972516	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs149036553	chr15:55972553-55972554	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs11636555	chr15:55972651-55972652	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	21129771	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Acute monocytic leukemia	16498392	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Gastric adenocarcinoma	19115996	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Holoprosencephaly	21359414	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:55911800-55977000	Weak transcription	Fetal Intestine Small	intestine
2	chr15:55920800-55987600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr15:55932600-55987000	Weak transcription	Ovary	ovary
4	chr15:55932800-55973400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr15:55942800-55974400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr15:55954000-55975400	Weak transcription	HSMM	muscle
7	chr15:55954000-55977400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr15:55954400-55987000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr15:55954600-55975000	Weak transcription	A549	lung
10	chr15:55955400-55980000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr15:55958200-55977600	Weak transcription	Fetal Muscle Trunk	muscle
12	chr15:55958800-55977400	Weak transcription	Left Ventricle	heart
13	chr15:55959000-55973800	Weak transcription	Primary hematopoietic stem cells	blood
14	chr15:55960400-55977600	Weak transcription	Placenta	Placenta
15	chr15:55960800-55995800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr15:55961400-55973000	Weak transcription	Psoas Muscle	Psoas
17	chr15:55962600-55974800	Weak transcription	Fetal Muscle Leg	muscle
18	chr15:55963400-55980200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr15:55964000-55977200	Weak transcription	HUVEC	blood vessel
20	chr15:55964200-55975600	Weak transcription	Fetal Stomach	stomach
21	chr15:55964800-55977200	Weak transcription	HepG2	liver
22	chr15:55966000-55974400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr15:55969000-55975600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr15:55969000-55976000	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr15:55969000-55976800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr15:55969000-55987000	Weak transcription	Fetal Lung	lung
27	chr15:55969200-55975600	Weak transcription	Stomach Smooth Muscle	stomach
28	chr15:55969200-55980200	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr15:55969200-55986000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr15:55969400-55980200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr15:55970400-55977800	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr15:55970600-55974200	Weak transcription	Hela-S3	cervix
33	chr15:55970600-55976800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr15:55970800-55977400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr15:55971200-55976200	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr15:55971800-55973200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr15:55972000-55986400	Weak transcription	Fetal Intestine Large	intestine
38	chr15:55972400-55973800	Weak transcription	Fetal Kidney	kidney
39	chr15:55972400-55974200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links