Variant report

Variant	rs57468334
Chromosome Location	chr22:32599811-32599812
allele	C/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	MXI1	chr22:32599656-32601962	SK-N-SH	brain:	n/a	n/a
2	SUZ12	chr22:32598497-32599901	H1-hESC	embryonic stem cell:	n/a	n/a
3	SUZ12	chr22:32598394-32600569	NT2-D1	testis:	n/a	n/a
4	ZBTB7A	chr22:32598591-32600675	ECC-1	luminal epithelium:	n/a	n/a
5	GATA1	chr22:32599074-32599883	PBDE	blood:	n/a	n/a
6	CTCF	chr22:32598009-32599919	SK-N-SH	brain:	n/a	chr22:32598585-32598603
7	ZBTB7A	chr22:32598681-32600760	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	22:31936958-31958600..22:32594665-32606395	K562	blood:

Variant related genes	Relation type
RFPL2	TF binding region
ENSG00000242082	TF binding region
ENSG00000214093	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12160108	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16990001	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16990004	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5998300	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs760556	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948789	chr22:32462505-32764760	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv1065175	chr22:32467617-32761093	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	nsv544680	chr22:32467617-32761093	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
4	esv2830423	chr22:32477718-32767825	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
5	esv2422247	chr22:32486448-32788258	Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
6	nsv834178	chr22:32490449-32677521	Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
7	nsv459874	chr22:32574274-32866934	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
8	nsv588895	chr22:32574274-32866934	Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
9	nsv3597	chr22:32588424-32632724	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
10	esv2753006	chr22:32592120-32719481	Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32597800-32600800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
2	chr22:32598200-32600000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr22:32598400-32600000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
4	chr22:32598400-32600200	Enhancers	Lung	lung
5	chr22:32598400-32600600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr22:32598400-32600800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
7	chr22:32598400-32600800	Enhancers	Pancreas	Pancrea
8	chr22:32598400-32602800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr22:32598600-32600000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
10	chr22:32598600-32601200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
11	chr22:32598600-32601400	Active TSS	Brain Anterior Caudate	brain
12	chr22:32598600-32601800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
13	chr22:32598600-32601800	Active TSS	Brain Angular Gyrus	brain
14	chr22:32598600-32601800	Active TSS	A549	lung
15	chr22:32598600-32603400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr22:32598800-32600000	Bivalent/Poised TSS	Fetal Brain Female	brain
17	chr22:32598800-32600000	Flanking Active TSS	Right Ventricle	heart
18	chr22:32598800-32600000	Enhancers	Spleen	Spleen
19	chr22:32598800-32600200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr22:32598800-32600600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
21	chr22:32598800-32600600	Bivalent Enhancer	Fetal Brain Male	brain
22	chr22:32598800-32601000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
23	chr22:32598800-32601000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
24	chr22:32598800-32601800	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr22:32599000-32600000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr22:32599000-32600200	Weak transcription	HepG2	liver
27	chr22:32599200-32600000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
28	chr22:32599200-32600000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr22:32599200-32600000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr22:32599200-32600200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr22:32599200-32600400	Enhancers	Liver	Liver
32	chr22:32599200-32601800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
33	chr22:32599400-32600000	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
34	chr22:32599400-32600000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr22:32599400-32600200	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr22:32599400-32600200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
37	chr22:32599400-32600200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
38	chr22:32599400-32600200	Bivalent Enhancer	Fetal Stomach	stomach
39	chr22:32599400-32600400	Weak transcription	Right Atrium	heart
40	chr22:32599400-32600600	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
41	chr22:32599400-32600800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr22:32599400-32600800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
43	chr22:32599600-32600000	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
44	chr22:32599600-32600000	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
45	chr22:32599600-32600200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr22:32599600-32600200	Active TSS	Brain Inferior Temporal Lobe	brain
47	chr22:32599600-32600400	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr22:32599600-32600400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
49	chr22:32599600-32600800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
50	chr22:32599600-32601400	Active TSS	Brain Cingulate Gyrus	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links