Variant report

Variant	rs9621265
Chromosome Location	chr22:31861203-31861204
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:31855754..31858470-chr22:31860369..31863363,2	K562	blood:

Variant related genes	Relation type
ENSG00000224623	Chromatin interaction

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10483159	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11089501	1.00[EUR][1000 genomes]
rs11089502	1.00[EUR][1000 genomes]
rs11089503	1.00[EUR][1000 genomes]
rs11089504	1.00[EUR][1000 genomes]
rs12165685	1.00[EUR][1000 genomes]
rs12168242	1.00[EUR][1000 genomes]
rs12169794	0.85[AMR][1000 genomes]
rs12484966	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12485048	0.85[AFR][1000 genomes]
rs12485176	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12485177	1.00[EUR][1000 genomes]
rs17820958	1.00[EUR][1000 genomes]
rs17821132	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1859677	1.00[EUR][1000 genomes]
rs1968024	1.00[EUR][1000 genomes]
rs2073856	1.00[EUR][1000 genomes]
rs2073859	1.00[EUR][1000 genomes]
rs2073860	1.00[EUR][1000 genomes]
rs2073861	1.00[EUR][1000 genomes]
rs2158779	1.00[EUR][1000 genomes]
rs2240424	1.00[EUR][1000 genomes]
rs2267168	1.00[EUR][1000 genomes]
rs2273248	1.00[EUR][1000 genomes]
rs2283882	1.00[EUR][1000 genomes]
rs2295240	0.85[AMR][1000 genomes]
rs28678535	1.00[EUR][1000 genomes]
rs28872513	1.00[EUR][1000 genomes]
rs35208364	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs3747153	1.00[EUR][1000 genomes]
rs3747154	1.00[EUR][1000 genomes]
rs3747155	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3788434	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5749233	1.00[EUR][1000 genomes]
rs5749236	1.00[EUR][1000 genomes]
rs5749239	1.00[EUR][1000 genomes]
rs5749240	1.00[EUR][1000 genomes]
rs5749247	1.00[EUR][1000 genomes]
rs5749252	1.00[EUR][1000 genomes]
rs5749255	1.00[EUR][1000 genomes]
rs5749258	1.00[EUR][1000 genomes]
rs5749262	1.00[EUR][1000 genomes]
rs5749263	1.00[EUR][1000 genomes]
rs5753512	1.00[EUR][1000 genomes]
rs5753513	1.00[EUR][1000 genomes]
rs5753516	1.00[EUR][1000 genomes]
rs5753519	1.00[EUR][1000 genomes]
rs5753525	1.00[EUR][1000 genomes]
rs5753526	1.00[EUR][1000 genomes]
rs5753527	1.00[EUR][1000 genomes]
rs5753529	1.00[EUR][1000 genomes]
rs5753532	1.00[EUR][1000 genomes]
rs5753534	1.00[EUR][1000 genomes]
rs5753535	1.00[EUR][1000 genomes]
rs5753540	1.00[EUR][1000 genomes]
rs5753555	1.00[EUR][1000 genomes]
rs5753556	1.00[EUR][1000 genomes]
rs5753566	1.00[EUR][1000 genomes]
rs5753569	1.00[EUR][1000 genomes]
rs5753571	1.00[EUR][1000 genomes]
rs5753572	1.00[EUR][1000 genomes]
rs58856347	1.00[EUR][1000 genomes]
rs59416609	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7292620	1.00[EUR][1000 genomes]
rs73396257	1.00[EUR][1000 genomes]
rs9619178	1.00[EUR][1000 genomes]
rs9621220	1.00[EUR][1000 genomes]
rs9621226	1.00[EUR][1000 genomes]
rs9621236	1.00[EUR][1000 genomes]
rs9621247	1.00[EUR][1000 genomes]
rs9621252	1.00[EUR][1000 genomes]
rs9621261	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9621263	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9621264	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9621270	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

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	nsv834176	chr22:31682426-31864701	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	esv1791934	chr22:31846234-31874194	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
6	nsv9897	chr22:31860213-31864142	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31797000-31884400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr22:31797000-31884400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr22:31815000-31868200	Strong transcription	Dnd41	blood
4	chr22:31815000-31883400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr22:31823600-31884600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr22:31832600-31867800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr22:31836200-31873600	Weak transcription	Stomach Mucosa	stomach
8	chr22:31846000-31865800	Strong transcription	Rectal Mucosa Donor 31	rectum
9	chr22:31846400-31872000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr22:31847600-31881800	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr22:31847800-31868200	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr22:31848000-31865600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr22:31848000-31867400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr22:31848000-31868000	Strong transcription	Primary T helper cells PMA-I stimulated	--
15	chr22:31848000-31868400	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr22:31848200-31865800	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr22:31848200-31867600	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr22:31848200-31867800	Strong transcription	Primary B cells from peripheral blood	blood
19	chr22:31848200-31868200	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr22:31848200-31868400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr22:31848600-31867400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr22:31848600-31868000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr22:31848600-31868400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr22:31848800-31883000	Weak transcription	Fetal Heart	heart
25	chr22:31849000-31867600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr22:31849400-31867600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr22:31850200-31871400	Strong transcription	GM12878-XiMat	blood
28	chr22:31850800-31876800	Weak transcription	Esophagus	oesophagus
29	chr22:31852200-31862000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr22:31854200-31861800	Strong transcription	Fetal Thymus	thymus
31	chr22:31854200-31868200	Strong transcription	Fetal Muscle Trunk	muscle
32	chr22:31854800-31884600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr22:31855600-31864600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr22:31856200-31865000	Weak transcription	K562	blood
35	chr22:31856400-31867800	Strong transcription	Fetal Intestine Small	intestine
36	chr22:31856600-31867400	Strong transcription	Cortex derived primary cultured neurospheres	brain
37	chr22:31856800-31885000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr22:31857000-31867000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr22:31857000-31867400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr22:31857200-31865800	Strong transcription	Fetal Brain Female	brain
41	chr22:31858000-31861400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr22:31858200-31862800	Weak transcription	Brain Hippocampus Middle	brain
43	chr22:31858200-31877800	Weak transcription	Fetal Brain Male	brain
44	chr22:31858400-31864600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr22:31858400-31884600	Weak transcription	Psoas Muscle	Psoas
46	chr22:31859000-31863200	Weak transcription	Ovary	ovary
47	chr22:31859000-31875200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr22:31859200-31873600	Weak transcription	A549	lung
49	chr22:31859400-31862400	Weak transcription	Right Ventricle	heart
50	chr22:31859400-31862800	Weak transcription	HMEC	breast

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