Variant report

Variant	rs9625236
Chromosome Location	chr22:27856512-27856513
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	GATA3	chr22:27856312-27856865	SK-N-SH	brain:	n/a	n/a
2	TCF12	chr22:27856419-27857017	SK-N-SH	brain:	n/a	n/a
3	NFIC	chr22:27856399-27856927	SK-N-SH	brain:	n/a	n/a
4	GATA3	chr22:27856406-27856991	SK-N-SH	brain:	n/a	n/a
5	NFIC	chr22:27856323-27857024	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000227880	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1884133	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs738571	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs738573	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9608612	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9613450	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	esv3413125	chr22:27404463-28121577	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv459860	chr22:27527005-28181436	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv588872	chr22:27527005-28181436	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh 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	27 gene(s)	inside rSNPs	diseases
4	nsv834167	chr22:27758395-27910985	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv459864	chr22:27760086-27865344	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv588875	chr22:27760086-27865344	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv471192	chr22:27821656-27865344	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv459865	chr22:27852183-27867567	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv588876	chr22:27852183-27867567	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:27851200-27857400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr22:27851200-27857400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr22:27851200-27857400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr22:27852600-27858400	Enhancers	Placenta Amnion	Placenta Amnion
5	chr22:27853800-27857200	Weak transcription	A549	lung
6	chr22:27853800-27857400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr22:27854200-27856600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr22:27854200-27856800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr22:27854400-27856600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr22:27854400-27856600	Weak transcription	NHEK	skin
11	chr22:27854800-27860200	Enhancers	Fetal Brain Male	brain
12	chr22:27855000-27856600	Weak transcription	HMEC	breast
13	chr22:27855000-27857400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr22:27855200-27857400	Enhancers	Fetal Stomach	stomach
15	chr22:27855200-27859200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr22:27855400-27857200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr22:27855400-27859400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr22:27855800-27857000	Bivalent Enhancer	Fetal Muscle Leg	muscle
19	chr22:27855800-27857600	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr22:27855800-27859600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr22:27856000-27856800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr22:27856000-27856800	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr22:27856000-27857000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr22:27856000-27857200	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr22:27856000-27857400	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr22:27856000-27857600	Enhancers	Osteobl	bone
27	chr22:27856000-27857800	Enhancers	NHDF-Ad	bronchial
28	chr22:27856000-27858000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr22:27856000-27858200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr22:27856000-27858600	Enhancers	NHLF	lung
31	chr22:27856000-27859000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr22:27856000-27859200	Enhancers	Brain Anterior Caudate	brain
33	chr22:27856000-27859400	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr22:27856000-27859400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr22:27856000-27859400	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr22:27856000-27859800	Enhancers	Adipose Nuclei	Adipose
37	chr22:27856200-27857000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
38	chr22:27856200-27857200	Weak transcription	Brain Hippocampus Middle	brain
39	chr22:27856200-27857800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr22:27856200-27857800	Enhancers	HSMM	muscle
41	chr22:27856200-27858200	Enhancers	Brain Substantia Nigra	brain
42	chr22:27856200-27858600	Enhancers	HSMMtube	muscle
43	chr22:27856200-27859000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr22:27856200-27859400	Enhancers	NH-A	brain
45	chr22:27856200-27859600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr22:27856400-27856800	Enhancers	Fetal Lung	lung
47	chr22:27856400-27857400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr22:27856400-27857400	Weak transcription	Aorta	Aorta
49	chr22:27856400-27858200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
50	chr22:27856400-27858400	Enhancers	HUES6 Cell Line	embryonic stem cell

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