Variant report

Variant	esv3413680
Chromosome Location	chr15:55992093-55992667
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192397432	chr15:55992102-55992103	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs183348896	chr15:55992112-55992113	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201288506	chr15:55992146-55992147	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs542982389	chr15:55992159-55992160	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs74406062	chr15:55992174-55992175	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545923446	chr15:55992191-55992192	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs576334476	chr15:55992236-55992237	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs545213275	chr15:55992245-55992246	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs373317477	chr15:55992309-55992310	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188807606	chr15:55992310-55992311	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs34972953	chr15:55992328-55992329	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs529816724	chr15:55992331-55992332	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs527394225	chr15:55992334-55992335	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs374490717	chr15:55992397-55992398	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs377696310	chr15:55992439-55992440	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs7162071	chr15:55992467-55992468	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs373609012	chr15:55992473-55992474	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs191654970	chr15:55992483-55992484	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs148857318	chr15:55992504-55992505	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550088222	chr15:55992505-55992506	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376832172	chr15:55992512-55992513	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs142613826	chr15:55992555-55992556	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564621724	chr15:55992591-55992592	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs75265381	chr15:55992645-55992646	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs76472232	chr15:55992662-55992663	Strong transcription Weak transcription ZNF genes & repeats Enhancers	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:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:55960800-55995800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr15:55986800-55992600	Weak transcription	GM12878-XiMat	blood
3	chr15:55987600-55995600	Weak transcription	Fetal Kidney	kidney
4	chr15:55987800-55996000	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr15:55988000-55997200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr15:55988200-55993800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr15:55988400-55995000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr15:55988400-55995600	Weak transcription	Hela-S3	cervix
9	chr15:55989200-55992600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr15:55989800-55995800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr15:55990800-55992600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr15:55992000-55992200	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr15:55992000-55992600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr15:55992200-55995000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr15:55992600-55993000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr15:55992600-55993000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr15:55992600-55993200	Enhancers	GM12878-XiMat	blood
18	chr15:55992600-55995000	Strong 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