Variant report

Variant	rs72617295
Chromosome Location	chr22:31629278-31629279
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	FOS	chr22:31628939-31629571	HUVEC	blood vessel:	n/a	chr22:31629168-31629179
2	USF1	chr22:31628947-31629346	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:31627806..31629543-chr22:31645486..31647563,2	MCF-7	breast:
2	chr22:31626760..31629463-chr22:31643016..31645359,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000202019	TF binding region
ENSG00000182541	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1005624	0.83[ASN][1000 genomes]
rs1034587	0.87[ASN][1000 genomes]
rs10428007	0.95[ASN][1000 genomes]
rs11089491	0.84[ASN][1000 genomes]
rs12627941	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12628752	0.90[ASN][1000 genomes]
rs17220369	0.95[ASN][1000 genomes]
rs2072193	1.00[AFR][1000 genomes]
rs2073858	0.85[ASN][1000 genomes]
rs2074735	1.00[AFR][1000 genomes]
rs2239905	0.94[ASN][1000 genomes]
rs2239906	0.93[ASN][1000 genomes]
rs2267169	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2267170	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2267171	0.95[ASN][1000 genomes]
rs2283878	0.95[ASN][1000 genomes]
rs2283880	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2413041	0.90[ASN][1000 genomes]
rs28514306	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34184692	0.91[ASN][1000 genomes]
rs4615	0.89[ASN][1000 genomes]
rs4820952	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4820964	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4820965	0.88[ASN][1000 genomes]
rs55900008	0.88[ASN][1000 genomes]
rs5749231	0.85[ASN][1000 genomes]
rs5749232	0.91[ASN][1000 genomes]
rs5749237	0.95[ASN][1000 genomes]
rs5749244	0.94[ASN][1000 genomes]
rs5749254	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5749260	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs5753487	1.00[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs5753518	0.94[ASN][1000 genomes]
rs5753528	0.95[ASN][1000 genomes]
rs5753531	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs5753550	0.90[ASN][1000 genomes]
rs5753551	0.90[ASN][1000 genomes]
rs5753559	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5753560	0.88[ASN][1000 genomes]
rs5753592	0.91[EUR][1000 genomes]
rs5753595	0.91[EUR][1000 genomes]
rs58315696	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5997940	0.87[ASN][1000 genomes]
rs61006749	0.90[ASN][1000 genomes]
rs62237404	0.91[ASN][1000 genomes]
rs62237436	0.87[ASN][1000 genomes]
rs68136222	0.95[ASN][1000 genomes]
rs72617294	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72617298	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73158522	0.87[ASN][1000 genomes]
rs737809	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv459871	chr22:31551160-31680624	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	nsv588893	chr22:31551160-31680624	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
3	nsv1067003	chr22:31558663-31697093	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv1058844	chr22:31597104-31725296	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31608800-31639800	Weak transcription	Aorta	Aorta
2	chr22:31609600-31639200	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr22:31609800-31629400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr22:31620200-31637200	Weak transcription	HSMM	muscle
5	chr22:31620800-31630000	Weak transcription	Brain Angular Gyrus	brain
6	chr22:31621600-31629600	Genic enhancers	Fetal Intestine Small	intestine
7	chr22:31622200-31636800	Weak transcription	Hela-S3	cervix
8	chr22:31622600-31637400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr22:31623800-31632800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
10	chr22:31624600-31630000	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr22:31624800-31630000	Enhancers	Placenta	Placenta
12	chr22:31625000-31629800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr22:31625600-31639800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr22:31625800-31636000	Weak transcription	Ovary	ovary
15	chr22:31625800-31637000	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr22:31625800-31637000	Weak transcription	HMEC	breast
17	chr22:31625800-31639600	Weak transcription	Esophagus	oesophagus
18	chr22:31626000-31637200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr22:31626000-31637400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr22:31626400-31630800	Enhancers	HUVEC	blood vessel
21	chr22:31626400-31635000	Weak transcription	Gastric	stomach
22	chr22:31626600-31631000	Enhancers	Primary hematopoietic stem cells	blood
23	chr22:31626600-31632400	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr22:31626600-31639800	Weak transcription	NHDF-Ad	bronchial
25	chr22:31626600-31643800	Weak transcription	Left Ventricle	heart
26	chr22:31626600-31643800	Weak transcription	Spleen	Spleen
27	chr22:31626800-31629800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr22:31626800-31639600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr22:31627000-31631000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr22:31627000-31637000	Weak transcription	NHLF	lung
31	chr22:31627200-31629400	Enhancers	Stomach Mucosa	stomach
32	chr22:31627200-31629800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr22:31627200-31635000	Weak transcription	Small Intestine	intestine
34	chr22:31627200-31635600	Weak transcription	Osteobl	bone
35	chr22:31627200-31637000	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr22:31627400-31629600	Enhancers	Primary B cells from cord blood	blood
37	chr22:31627400-31629800	Genic enhancers	Rectal Mucosa Donor 31	rectum
38	chr22:31627400-31637400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr22:31627600-31629400	Weak transcription	Psoas Muscle	Psoas
40	chr22:31627600-31630800	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr22:31627600-31631000	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr22:31627600-31631200	Weak transcription	Right Atrium	heart
43	chr22:31627600-31631400	Weak transcription	Colonic Mucosa	Colon
44	chr22:31627600-31631800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr22:31627600-31633400	Weak transcription	Primary B cells from peripheral blood	blood
46	chr22:31627600-31635600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr22:31627600-31635800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr22:31627600-31635800	Weak transcription	Fetal Lung	lung
49	chr22:31627600-31637400	Weak transcription	Pancreas	Pancrea
50	chr22:31627600-31637600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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