Variant report

Variant	rs8137925
Chromosome Location	chr22:31218133-31218134
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	POLR2A	chr22:31217034-31219671	Hela-S3	cervix:	n/a	n/a
2	MAX	chr22:31217944-31218678	ECC-1	luminal epithelium:	n/a	n/a
3	TCF7L2	chr22:31217936-31218162	Hela-S3	cervix:	n/a	chr22:31217937-31217944
4	POLR2A	chr22:31216667-31219322	Hela-S3	cervix:	n/a	n/a
5	MAX	chr22:31218122-31218796	H1-hESC	embryonic stem cell:	n/a	n/a
6	GATA2	chr22:31217978-31218673	SH-SY5Y	brain:	n/a	n/a
7	HA-E2F1	chr22:31218115-31218668	MCF-7	breast:	n/a	chr22:31218172-31218179 chr22:31218366-31218378 chr22:31218611-31218618 chr22:31218172-31218179 chr22:31218611-31218618 chr22:31218611-31218618 chr22:31218172-31218179 chr22:31218486-31218496
8	ZBTB7A	chr22:31217974-31218756	ECC-1	luminal epithelium:	n/a	n/a
9	ZBTB7A	chr22:31217890-31218697	ECC-1	luminal epithelium:	n/a	n/a
10	MAX	chr22:31218038-31218824	ECC-1	luminal epithelium:	n/a	n/a
11	TCF12	chr22:31218117-31218768	ECC-1	luminal epithelium:	n/a	chr22:31218329-31218339
12	MAX	chr22:31218017-31218673	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:31218130..31220095-chr22:31317473..31320044,2	MCF-7	breast:

Variant related genes	Relation type
OSBP2	TF binding region
ENSG00000235989	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs13058040	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs136221	0.87[ASN][1000 genomes]
rs5994347	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5997780	0.82[ASN][1000 genomes]
rs738373	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs738374	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs738375	0.82[AMR][1000 genomes]
rs926341	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	nsv588888	chr22:31212641-31249333	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31213800-31218200	Weak transcription	HSMMtube	muscle
2	chr22:31217400-31219400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr22:31217800-31218200	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr22:31217800-31218200	Flanking Active TSS	Brain Angular Gyrus	brain
5	chr22:31217800-31218200	Bivalent Enhancer	Fetal Intestine Small	intestine
6	chr22:31217800-31218400	Flanking Active TSS	Brain Cingulate Gyrus	brain
7	chr22:31217800-31218400	Flanking Active TSS	Brain Hippocampus Middle	brain
8	chr22:31217800-31218400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr22:31217800-31218400	Flanking Active TSS	Hela-S3	cervix
10	chr22:31217800-31219000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr22:31217800-31219400	Bivalent Enhancer	Fetal Brain Male	brain
12	chr22:31218000-31218200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr22:31218000-31218200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
14	chr22:31218000-31218200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr22:31218000-31218200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr22:31218000-31218200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
17	chr22:31218000-31218200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
18	chr22:31218000-31218200	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr22:31218000-31218200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr22:31218000-31218200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
21	chr22:31218000-31218200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr22:31218000-31218200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr22:31218000-31218200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
24	chr22:31218000-31218200	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
25	chr22:31218000-31218200	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
26	chr22:31218000-31218200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
27	chr22:31218000-31218200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr22:31218000-31218200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr22:31218000-31218200	Bivalent Enhancer	Adipose Nuclei	Adipose
30	chr22:31218000-31218200	Flanking Active TSS	Brain Substantia Nigra	brain
31	chr22:31218000-31218200	Bivalent Enhancer	Colon Smooth Muscle	Colon
32	chr22:31218000-31218200	Bivalent Enhancer	Esophagus	oesophagus
33	chr22:31218000-31218200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
34	chr22:31218000-31218200	Bivalent/Poised TSS	Fetal Brain Female	brain
35	chr22:31218000-31218200	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
36	chr22:31218000-31218200	Bivalent Enhancer	Fetal Stomach	stomach
37	chr22:31218000-31218200	Bivalent Enhancer	Fetal Thymus	thymus
38	chr22:31218000-31218200	Enhancers	Gastric	stomach
39	chr22:31218000-31218200	Bivalent Enhancer	Left Ventricle	heart
40	chr22:31218000-31218200	Enhancers	Pancreas	Pancrea
41	chr22:31218000-31218200	Enhancers	HSMM	muscle
42	chr22:31218000-31218200	Bivalent Enhancer	HUVEC	blood vessel
43	chr22:31218000-31218200	Flanking Bivalent TSS/Enh	NHDF-Ad	bronchial
44	chr22:31218000-31218200	Bivalent Enhancer	NHLF	lung
45	chr22:31218000-31218400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
46	chr22:31218000-31218400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr22:31218000-31218400	Flanking Bivalent TSS/Enh	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr22:31218000-31218400	Enhancers	Primary hematopoietic stem cells	blood
49	chr22:31218000-31218400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr22:31218000-31218400	Flanking Active TSS	Brain Anterior Caudate	brain

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