Variant report

Variant	esv3443130
Chromosome Location	chr15:78117927-78118412
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	chr15:78111620-78118444	SK-N-MC	brain:	n/a	n/a
2	ZNF263	chr15:78117869-78118679	HEK293-T-REx	kidney:	n/a	chr15:78118152-78118161 chr15:78118296-78118317

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:78115466..78118484-chr15:78120011..78123409,3	MCF-7	breast:
2	chr15:78116064..78118754-chr15:78122840..78125004,2	MCF-7	breast:

Variant related genes	Relation type
LINGO1	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4496098	chr15:78117937-78117938	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs538015190	chr15:78118005-78118006	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs556465709	chr15:78118026-78118027	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs377603587	chr15:78118035-78118036	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs375865520	chr15:78118044-78118045	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs11072678	chr15:78118050-78118051	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs545375637	chr15:78118097-78118098	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs566741329	chr15:78118102-78118103	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs560576408	chr15:78118110-78118111	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs143780535	chr15:78118122-78118123	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs572432369	chr15:78118169-78118170	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs543149563	chr15:78118205-78118206	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs561328520	chr15:78118208-78118209	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs531822454	chr15:78118327-78118328	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs4465577	chr15:78118343-78118344	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs377435642	chr15:78118409-78118410	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	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
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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Autism	21480499	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78114400-78118200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr15:78114600-78118400	Weak transcription	Fetal Brain Female	brain
3	chr15:78114800-78118800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr15:78115800-78118400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr15:78115800-78119200	Enhancers	Fetal Intestine Small	intestine
6	chr15:78116000-78118200	Enhancers	Fetal Intestine Large	intestine
7	chr15:78117200-78119000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr15:78117800-78118600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr15:78118000-78118200	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr15:78118000-78119000	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr15:78118000-78119000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr15:78118200-78118600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr15:78118200-78119000	Bivalent Enhancer	Fetal Intestine Large	intestine
14	chr15:78118400-78118600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr15:78118400-78118600	Enhancers	Fetal Brain Female	brain
16	chr15:78118400-78119000	Enhancers	H1 Cell Line	embryonic stem cell
17	chr15:78118400-78122400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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