Variant report

Variant	rs7225605
Chromosome Location	chr17:19986449-19986450
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	GATA3	chr17:19986449-19987017	MCF-7	breast:	n/a	chr17:19986723-19986735 chr17:19986724-19986733 chr17:19986715-19986732 chr17:19986726-19986733 chr17:19986724-19986734 chr17:19986726-19986733 chr17:19986724-19986733 chr17:19986721-19986737 chr17:19986726-19986733
2	GATA3	chr17:19986448-19987029	SK-N-SH	brain:	n/a	chr17:19986723-19986735 chr17:19986724-19986733 chr17:19986715-19986732 chr17:19986726-19986733 chr17:19986724-19986734 chr17:19986726-19986733 chr17:19986724-19986733 chr17:19986721-19986737 chr17:19986726-19986733

Variant related genes	Relation type
SPECC1	TF binding region

Extended variants
information (count: 49 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs12051550	0.88[EUR][1000 genomes]
rs13339684	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16942325	0.87[EUR][1000 genomes]
rs16959946	0.89[EUR][1000 genomes]
rs16960660	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16960678	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16964352	0.84[EUR][1000 genomes]
rs28550747	0.89[EUR][1000 genomes]
rs28567541	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28622601	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28644386	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3764436	0.89[EUR][1000 genomes]
rs5025290	0.89[EUR][1000 genomes]
rs56138907	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7210439	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7219770	0.91[ASN][1000 genomes]
rs7223910	0.91[ASN][1000 genomes]
rs73981803	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73981807	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73984564	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73984568	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73984571	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73984573	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9889684	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9897161	0.89[EUR][1000 genomes]
rs9897168	0.89[EUR][1000 genomes]
rs9901357	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9901484	0.89[EUR][1000 genomes]
rs9902683	0.89[EUR][1000 genomes]
rs9908032	0.87[EUR][1000 genomes]
rs9909156	0.87[EUR][1000 genomes]
rs9911879	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9913018	0.89[EUR][1000 genomes]
rs9916729	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062853	chr17:19547912-20206601	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv907868	chr17:19768924-20217122	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv833394	chr17:19827714-19999577	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv1060337	chr17:19828636-20204872	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv543257	chr17:19828636-20204872	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv907870	chr17:19871922-20001612	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv907871	chr17:19927699-20088492	Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv482438	chr17:19934376-20089005	Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv907872	chr17:19945841-19996140	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv1056224	chr17:19946604-19993026	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv543258	chr17:19946604-19993026	Weak transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv1066594	chr17:19947874-19986671	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv543259	chr17:19947874-19986671	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv833395	chr17:19969959-20124084	Genic enhancers Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
15	esv2762522	chr17:19976462-19996429	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7225605	USP32P3	cis	Nerve Tibial	GTEx
rs7225605	AKAP10	cis	Whole Blood	GTEx

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19976200-19988000	Weak transcription	Gastric	stomach
2	chr17:19976200-19989400	Weak transcription	Lung	lung
3	chr17:19977600-19989600	Weak transcription	K562	blood
4	chr17:19978000-19988200	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr17:19978800-20000000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr17:19979000-19988200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr17:19980200-19988200	Weak transcription	Brain Hippocampus Middle	brain
8	chr17:19980600-19994600	Weak transcription	Primary hematopoietic stem cells	blood
9	chr17:19980800-19988200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr17:19980800-19990000	Weak transcription	A549	lung
11	chr17:19981000-19988000	Weak transcription	Aorta	Aorta
12	chr17:19981200-19993000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr17:19981600-19988200	Weak transcription	Adipose Nuclei	Adipose
14	chr17:19981800-19988600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr17:19982600-19987000	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr17:19982600-19993000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr17:19983200-19988000	Weak transcription	Ovary	ovary
18	chr17:19983200-19993400	Weak transcription	Spleen	Spleen
19	chr17:19984000-19988200	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr17:19984200-19988200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr17:19984200-19988200	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr17:19984400-19987800	Weak transcription	GM12878-XiMat	blood
23	chr17:19984600-19988400	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr17:19984800-19988000	Weak transcription	Brain Angular Gyrus	brain
25	chr17:19985000-19988000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr17:19985000-19989400	Weak transcription	Right Ventricle	heart
27	chr17:19985600-19988200	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr17:19985600-19993000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr17:19986000-19986800	Enhancers	Placenta Amnion	Placenta Amnion
30	chr17:19986200-19993000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr17:19986400-19986600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr17:19986400-19986600	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr17:19986400-19986800	Enhancers	Osteobl	bone
34	chr17:19986400-19990600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr17:19986400-19991400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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