Variant report

Variant	esv3400773
Chromosome Location	chr15:56055187-56055541
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	chr15:56055480-56055630	AG09319	gingival:	n/a	n/a
2	POLR2A	chr15:56055135-56055321	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:56047758..56049689-chr15:56055048..56056638,2	MCF-7	breast:
2	chr15:56053448..56056343-chr15:56061329..56062999,2	K562	blood:

Variant related genes	Relation type
ENSG00000221218	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 59 )

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	rs556257160	chr15:56055189-56055190	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs576138097	chr15:56055192-56055193	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs143614700	chr15:56055231-56055232	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs148067661	chr15:56055238-56055239	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs200965274	chr15:56055253-56055254	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs151184415	chr15:56055254-56055255	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs572661785	chr15:56055266-56055267	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs541664686	chr15:56055277-56055278	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs112018715	chr15:56055310-56055311	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs7166279	chr15:56055322-56055323	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs150625246	chr15:56055335-56055336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs190429959	chr15:56055336-56055337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554567811	chr15:56055343-56055344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181732366	chr15:56055351-56055352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552142991	chr15:56055379-56055380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs7165837	chr15:56055388-56055389	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs527592218	chr15:56055406-56055407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547640107	chr15:56055422-56055423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs186240563	chr15:56055447-56055448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs386784264	chr15:56055465-56055466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs7170400	chr15:56055466-56055467	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs8031575	chr15:56055468-56055469	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs569761646	chr15:56055473-56055474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576972209	chr15:56055502-56055503	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs139053292	chr15:56055538-56055539	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:56051200-56058600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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