Variant report

Variant	rs572784033
Chromosome Location	chr2:54681567-54681568
allele	A/T
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	MYBL2	chr2:54681501-54683343	HepG2	liver:	n/a	n/a
2	RAD21	chr2:54681562-54682016	HepG2	liver:	n/a	chr2:54681763-54681770
3	FOXA1	chr2:54681217-54682489	HepG2	liver:	n/a	chr2:54681973-54681988 chr2:54681975-54681987
4	HEY1	chr2:54681566-54683738	HepG2	liver:	n/a	chr2:54683583-54683598 chr2:54683492-54683507
5	HDAC2	chr2:54681564-54682156	HepG2	liver:	n/a	chr2:54681944-54681958 chr2:54681975-54681984 chr2:54681945-54681954
6	FOXA2	chr2:54681127-54682857	HepG2	liver:	n/a	chr2:54681975-54681987
7	NFIC	chr2:54681500-54682550	HepG2	liver:	n/a	n/a
8	RXRA	chr2:54681561-54682033	HepG2	liver:	n/a	n/a
9	MBD4	chr2:54681524-54682655	HepG2	liver:	n/a	n/a
10	CTCF	chr2:54681540-54681690	HCM	heart:	n/a	n/a
11	TEAD4	chr2:54681509-54682622	HepG2	liver:	n/a	n/a
12	FOXA1	chr2:54681521-54682299	HepG2	liver:	n/a	chr2:54681973-54681988 chr2:54681975-54681987

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:54663282..54665058-chr2:54681463..54683178,2	MCF-7	breast:

Variant related genes	Relation type
SPTBN1	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003205	chr2:54220049-54700843	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv2762639	chr2:54220049-54700855	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv1011790	chr2:54220049-54714553	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1002891	chr2:54227005-54682169	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv535722	chr2:54227005-54682169	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv1011690	chr2:54255361-54700843	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	esv3403234	chr2:54681448-54686246	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54668600-54682000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr2:54675400-54681800	Weak transcription	HSMMtube	muscle
3	chr2:54677600-54682200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:54678400-54681600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr2:54678400-54681800	Weak transcription	Brain Angular Gyrus	brain
6	chr2:54678600-54681600	Weak transcription	Brain Anterior Caudate	brain
7	chr2:54678600-54681600	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr2:54678600-54682200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:54681000-54681800	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr2:54681000-54682000	Weak transcription	Fetal Muscle Leg	muscle
11	chr2:54681200-54681600	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr2:54681200-54681600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:54681200-54681600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr2:54681200-54681800	Enhancers	A549	lung
15	chr2:54681200-54682000	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr2:54681200-54682200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:54681200-54682200	Enhancers	Liver	Liver
18	chr2:54681400-54681600	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr2:54681400-54681800	Flanking Active TSS	HepG2	liver
20	chr2:54681400-54682000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
21	chr2:54681400-54682000	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr2:54681400-54682200	Enhancers	Brain Hippocampus Middle	brain

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