Variant report

Variant	rs576220446
Chromosome Location	chr22:31893910-31893911
allele	A/G
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	RUNX3	chr22:31891860-31894008	GM12878	blood:	n/a	n/a
2	STAT3	chr22:31893211-31893933	GM12878	blood:	n/a	n/a
3	CREB1	chr22:31893409-31893973	GM12878	blood:	n/a	n/a
4	CREB1	chr22:31893219-31894054	GM12878	blood:	n/a	n/a
5	MTA3	chr22:31891303-31893982	GM12878	blood:	n/a	n/a
6	RUNX3	chr22:31893296-31893962	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:31892596..31895248-chr22:31897166..31900535,3	MCF-7	breast:
2	chr22:31892881..31894794-chr22:31897314..31900016,2	K562	blood:
3	chr22:31892695..31894776-chr22:32016253..32018919,2	K562	blood:

Variant related genes	Relation type
EIF4ENIF1	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063634	chr22:31797004-31921254	Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv459872	chr22:31833759-31977594	Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
3	nsv588894	chr22:31833759-31977594	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
4	nsv1060776	chr22:31869892-31900359	Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	esv3334530	chr22:31889221-31909085	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv1059314	chr22:31893613-31936088	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31892800-31894200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
2	chr22:31893000-31905200	Weak transcription	Aorta	Aorta
3	chr22:31893200-31894000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
4	chr22:31893200-31894000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
5	chr22:31893200-31894000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
6	chr22:31893200-31894200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr22:31893200-31903600	Weak transcription	Left Ventricle	heart
8	chr22:31893200-31912200	Weak transcription	Small Intestine	intestine
9	chr22:31893200-31934800	Weak transcription	Ovary	ovary
10	chr22:31893400-31894000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr22:31893400-31894000	Flanking Active TSS	Primary T cells from cord blood	blood
12	chr22:31893400-31894000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
13	chr22:31893400-31894000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
14	chr22:31893400-31894000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
15	chr22:31893400-31894000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
16	chr22:31893400-31894000	Enhancers	Brain Substantia Nigra	brain
17	chr22:31893400-31894000	Transcr. at gene 5' and 3'	Dnd41	blood
18	chr22:31893400-31894000	Active TSS	NH-A	brain
19	chr22:31893400-31894200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr22:31893400-31896600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr22:31893400-31897400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr22:31893400-31900000	Weak transcription	HSMM	muscle
23	chr22:31893400-31905200	Weak transcription	Fetal Intestine Large	intestine
24	chr22:31893400-31907200	Weak transcription	Fetal Intestine Small	intestine
25	chr22:31893400-31909000	Weak transcription	Liver	Liver
26	chr22:31893400-31920400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr22:31893400-31971200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr22:31893600-31894000	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr22:31893600-31894000	Enhancers	Primary B cells from peripheral blood	blood
30	chr22:31893600-31894000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
31	chr22:31893600-31894000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr22:31893600-31894000	ZNF genes & repeats	Fetal Brain Female	brain
33	chr22:31893600-31894000	Active TSS	K562	blood
34	chr22:31893600-31894000	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr22:31893600-31894000	Active TSS	NHEK	skin
36	chr22:31893600-31894400	Enhancers	Primary B cells from cord blood	blood
37	chr22:31893600-31899800	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr22:31893600-31900000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr22:31893600-31900000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr22:31893600-31900000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr22:31893600-31900000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr22:31893600-31900000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr22:31893600-31900000	Weak transcription	NHDF-Ad	bronchial
44	chr22:31893600-31904600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr22:31893600-31904600	Weak transcription	A549	lung
46	chr22:31893600-31904800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr22:31893600-31907000	Weak transcription	Lung	lung
48	chr22:31893600-31909000	Weak transcription	Fetal Brain Male	brain
49	chr22:31893600-31925600	Weak transcription	Gastric	stomach
50	chr22:31893600-31926200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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