Variant report

Variant	esv3378580
Chromosome Location	chr5:76113066-76113500
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	GATA3	chr5:76111872-76113336	SK-N-SH	brain:	n/a	chr5:76112977-76112986 chr5:76113118-76113128 chr5:76113036-76113043
2	GATA3	chr5:76112848-76113112	T-47D	breast:	n/a	chr5:76112977-76112986 chr5:76113036-76113043
3	GATA3	chr5:76112650-76113211	SK-N-SH	brain:	n/a	chr5:76112977-76112986 chr5:76113118-76113128 chr5:76113036-76113043
4	REST	chr5:76112844-76113099	SK-N-SH	brain:	n/a	chr5:76112988-76113006 chr5:76112987-76113007 chr5:76112987-76112996
5	REST	chr5:76112815-76113102	PFSK-1	brain:	n/a	chr5:76112988-76113006 chr5:76112987-76113007 chr5:76112987-76112996
6	REST	chr5:76112791-76113114	PFSK-1	brain:	n/a	chr5:76112988-76113006 chr5:76112987-76113007 chr5:76112987-76112996
7	TCF12	chr5:76111750-76113237	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:76113078..76116046-chr5:76145704..76148210,2	K562	blood:
2	chr5:76110973..76114089-chr5:76116480..76119427,3	K562	blood:

Variant related genes	Relation type
F2RL1	TF binding region
ENSG00000171643	chromatin interactions

Extended variants
information (count: 13 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2242984	chr5:76113080-76113081	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs547706559	chr5:76113137-76113138	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs112527980	chr5:76113193-76113194	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs189858583	chr5:76113212-76113213	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs200686150	chr5:76113222-76113223	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs375111714	chr5:76113223-76113224	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs551322416	chr5:76113231-76113232	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs141501109	chr5:76113232-76113233	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs113289533	chr5:76113233-76113234	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs2242985	chr5:76113327-76113328	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs570024123	chr5:76113401-76113402	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs544638198	chr5:76113437-76113438	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs560211391	chr5:76113495-76113496	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Spinal muscular atrophy	21762474	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Spinal muscular atrophy	15981080	CNVD
Spinal muscular atrophy	18839960	CNVD
Spinal muscular atrophy	19716110	CNVD
Glioblastoma multiforme	22286061	CNVD
craniofacial dysmorphism	21918468	CNVD
Multiple myeloma	16616336	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	17133270	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Schizophrenia	23813976	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Lung squamous cell carcinoma	22363434	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:76102600-76114400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:76105400-76114200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr5:76108600-76113800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr5:76109400-76114200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:76109600-76113200	Enhancers	HMEC	breast
6	chr5:76109600-76114000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr5:76109600-76114000	Enhancers	NHEK	skin
8	chr5:76109800-76113200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:76110000-76113400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr5:76110200-76114200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr5:76110200-76114400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr5:76110200-76114400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr5:76110400-76114200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr5:76110400-76114400	Weak transcription	NHLF	lung
15	chr5:76110600-76114000	Enhancers	A549	lung
16	chr5:76110600-76114000	Weak transcription	NH-A	brain
17	chr5:76110600-76114200	Weak transcription	HUVEC	blood vessel
18	chr5:76112000-76113200	Enhancers	NHDF-Ad	bronchial
19	chr5:76112400-76114400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr5:76113000-76113200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr5:76113000-76114200	Weak transcription	Hela-S3	cervix
22	chr5:76113200-76114200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr5:76113200-76114200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr5:76113200-76114200	Weak transcription	HMEC	breast
25	chr5:76113400-76113800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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