Variant report

Variant	nsv984075
Chromosome Location	chr15:57848182-57848879
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	CTCF	chr15:57848400-57848550	WERI-Rb-1	eye:	n/a	n/a
2	CTCF	chr15:57848440-57848590	K562	blood:	n/a	n/a
3	CTCF	chr15:57848453-57848557	K562	blood:	n/a	n/a
4	CTCF	chr15:57848538-57848566	K562	blood:	n/a	n/a
5	CTCF	chr15:57848462-57848558	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ENSG00000240874	TF binding region

Extended variants
information (count: 34 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566999881	chr15:57848188-57848189	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs7183861	chr15:57848201-57848202	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs555530843	chr15:57848210-57848211	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs1690316	chr15:57848213-57848214	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs544841837	chr15:57848215-57848216	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs376417251	chr15:57848216-57848217	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs147648295	chr15:57848220-57848221	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs142254966	chr15:57848228-57848229	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs540245734	chr15:57848301-57848302	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs1690317	chr15:57848320-57848321	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs1690318	chr15:57848336-57848337	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs543185919	chr15:57848375-57848376	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs562634489	chr15:57848400-57848401	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs531409909	chr15:57848473-57848474	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs146387491	chr15:57848475-57848476	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs571466737	chr15:57848482-57848483	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs527617806	chr15:57848510-57848511	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs2922232	chr15:57848547-57848548	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs374341969	chr15:57848551-57848552	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs2922231	chr15:57848578-57848579	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs549466854	chr15:57848583-57848584	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs569403998	chr15:57848586-57848587	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs538068535	chr15:57848587-57848588	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs558362400	chr15:57848607-57848608	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs3215057	chr15:57848630-57848631	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs578172829	chr15:57848644-57848645	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs1666583	chr15:57848668-57848669	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs1626448	chr15:57848675-57848676	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs112341465	chr15:57848695-57848696	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs574093861	chr15:57848696-57848697	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs2270487	chr15:57848768-57848769	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs562994197	chr15:57848809-57848810	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs576151620	chr15:57848843-57848844	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs544861308	chr15:57848845-57848846	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Gastrointestinal stromal cancer	16982739	CNVD
Chronic lymphocytic leukemia	21546498	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
Congenital diaphragmatic hernia	21341218	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Acute promyelocytic leukemia	19109227	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57837800-57853000	Weak transcription	Colon Smooth Muscle	Colon
2	chr15:57840800-57849400	Enhancers	Fetal Muscle Leg	muscle
3	chr15:57841000-57848600	Enhancers	HSMMtube	muscle
4	chr15:57842800-57848600	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr15:57843000-57848400	Enhancers	Placenta	Placenta
6	chr15:57843000-57848600	Enhancers	Fetal Lung	lung
7	chr15:57844200-57848800	Enhancers	Fetal Heart	heart
8	chr15:57844600-57852200	Weak transcription	HepG2	liver
9	chr15:57844600-57859000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr15:57844800-57848600	Enhancers	Hela-S3	cervix
11	chr15:57844800-57857400	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr15:57845200-57852400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr15:57845200-57857600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr15:57845400-57848600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr15:57846000-57848400	Enhancers	HSMM	muscle
16	chr15:57846200-57852400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr15:57846400-57848200	Enhancers	NH-A	brain
18	chr15:57846400-57848400	Enhancers	Muscle Satellite Cultured Cells	--
19	chr15:57846800-57848400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr15:57846800-57861400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr15:57847000-57854600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr15:57847200-57853400	Weak transcription	NHEK	skin
23	chr15:57847200-57854400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr15:57847400-57848600	Enhancers	Psoas Muscle	Psoas
25	chr15:57847400-57852200	Weak transcription	Duodenum Mucosa	Duodenum
26	chr15:57847600-57849000	Enhancers	HUVEC	blood vessel
27	chr15:57847600-57851800	Weak transcription	Liver	Liver
28	chr15:57847600-57852200	Weak transcription	A549	lung
29	chr15:57847600-57852200	Weak transcription	HMEC	breast
30	chr15:57847600-57853400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr15:57847600-57854400	Weak transcription	Pancreas	Pancrea
32	chr15:57847600-57859200	Weak transcription	Right Ventricle	heart
33	chr15:57847800-57848200	Weak transcription	Fetal Muscle Trunk	muscle
34	chr15:57847800-57848600	Weak transcription	Brain Anterior Caudate	brain
35	chr15:57847800-57850200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr15:57847800-57852000	Weak transcription	Stomach Mucosa	stomach
37	chr15:57847800-57852400	Weak transcription	Fetal Intestine Large	intestine
38	chr15:57847800-57852400	Weak transcription	Stomach Smooth Muscle	stomach
39	chr15:57847800-57852600	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr15:57847800-57853600	Weak transcription	Fetal Stomach	stomach
41	chr15:57847800-57859000	Weak transcription	Gastric	stomach
42	chr15:57847800-57859200	Weak transcription	Ovary	ovary
43	chr15:57847800-57859200	Weak transcription	Right Atrium	heart
44	chr15:57848000-57848200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr15:57848000-57852400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr15:57848200-57848800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr15:57848200-57849400	Enhancers	Fetal Muscle Trunk	muscle
48	chr15:57848200-57851000	Weak transcription	NH-A	brain
49	chr15:57848600-57848800	Enhancers	Brain Anterior Caudate	brain
50	chr15:57848600-57852200	Weak transcription	Skeletal Muscle Male	skeletal muscle

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