Variant report

Variant	rs528407769
Chromosome Location	chr2:111752291-111752292
allele	C/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	MAX	chr2:111751197-111752401	NB4	blood:	n/a	chr2:111751616-111751626 chr2:111751630-111751639
2	POLR2A	chr2:111751069-111752405	HL-60	blood:	n/a	n/a
3	POLR2A	chr2:111752150-111752355	GM12878	blood:	n/a	n/a
4	SPI1	chr2:111751995-111752552	HL-60	blood:	n/a	chr2:111752400-111752409
5	REST	chr2:111751597-111752566	HL-60	blood:	n/a	chr2:111751659-111751677
6	SPI1	chr2:111751809-111752591	HL-60	blood:	n/a	chr2:111752400-111752409
7	MYC	chr2:111751304-111752480	NB4	blood:	n/a	chr2:111751616-111751626 chr2:111751630-111751639
8	GABPA	chr2:111751807-111752424	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:111750836..111753179-chr2:111879308..111880841,2	MCF-7	breast:

Variant related genes	Relation type
ACOXL	TF binding region
ENSG00000153094	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874838	chr2:111376870-112046226	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv874839	chr2:111400934-111868010	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv997829	chr2:111486961-111780537	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv834330	chr2:111593290-111789447	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1004949	chr2:111607532-111780719	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1002568	chr2:111607532-111781442	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1005665	chr2:111610107-111762039	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv535892	chr2:111610107-111762039	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv819716	chr2:111752041-111753617	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111746200-111754200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr2:111749200-111752600	Enhancers	Fetal Lung	lung
3	chr2:111749200-111756200	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr2:111750000-111752600	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr2:111750000-111752600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr2:111750000-111753200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr2:111750200-111752600	Enhancers	Primary B cells from cord blood	blood
8	chr2:111750400-111757000	Weak transcription	Lung	lung
9	chr2:111750600-111752400	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr2:111750800-111752400	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr2:111750800-111752600	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr2:111751000-111752600	Enhancers	Primary B cells from peripheral blood	blood
13	chr2:111751200-111752400	Enhancers	Primary hematopoietic stem cells	blood
14	chr2:111751200-111752400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr2:111751200-111752400	Flanking Active TSS	Dnd41	blood
16	chr2:111751200-111752600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr2:111751400-111752600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
18	chr2:111751400-111752600	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr2:111751400-111755000	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr2:111751600-111752400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:111751600-111752400	Flanking Active TSS	Primary T cells from cord blood	blood
22	chr2:111751600-111752400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
23	chr2:111751600-111752400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr2:111751600-111752400	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr2:111751600-111752400	Enhancers	Placenta Amnion	Placenta Amnion
26	chr2:111751600-111752400	Enhancers	Thymus	Thymus
27	chr2:111751600-111752600	Enhancers	Primary T cells fromperipheralblood	blood
28	chr2:111751600-111752600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr2:111751600-111752600	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
30	chr2:111751600-111752600	Enhancers	Fetal Intestine Large	intestine
31	chr2:111751600-111752600	Enhancers	Placenta	Placenta
32	chr2:111751600-111752600	Enhancers	Fetal Thymus	thymus
33	chr2:111751600-111752600	Enhancers	Small Intestine	intestine
34	chr2:111751600-111752600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr2:111751800-111752400	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr2:111751800-111752400	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr2:111751800-111752400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
38	chr2:111751800-111752400	Enhancers	Fetal Intestine Small	intestine
39	chr2:111751800-111752400	Enhancers	Fetal Stomach	stomach
40	chr2:111751800-111752600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr2:111751800-111759200	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr2:111752000-111752400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
43	chr2:111752000-111752400	Enhancers	H9 Cell Line	embryonic stem cell
44	chr2:111752000-111752400	Enhancers	Spleen	Spleen
45	chr2:111752000-111752600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr2:111752000-111757000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr2:111752200-111752400	Enhancers	Fetal Kidney	kidney

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