Variant report

Variant	rs5030193
Chromosome Location	chr11:32440127-32440128
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	chr11:32439953-32440670	SK-N-SH	brain:	n/a	chr11:32440123-32440144 chr11:32440161-32440168 chr11:32440130-32440137 chr11:32440130-32440141 chr11:32440130-32440137 chr11:32440128-32440138 chr11:32440128-32440137 chr11:32440130-32440137 chr11:32440125-32440141
2	GATA3	chr11:32439972-32440498	SK-N-SH	brain:	n/a	chr11:32440123-32440144 chr11:32440161-32440168 chr11:32440130-32440137 chr11:32440130-32440141 chr11:32440130-32440137 chr11:32440128-32440138 chr11:32440128-32440137 chr11:32440130-32440137 chr11:32440125-32440141
3	TCF12	chr11:32440097-32440851	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:32431798..32437144-chr11:32439795..32446613,10	K562	blood:

Variant related genes	Relation type
WT1	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10767934	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10835902	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11031755	0.81[AMR][1000 genomes]
rs11031763	0.81[ASN][1000 genomes]
rs12365223	0.81[AMR][1000 genomes]
rs12365511	0.81[AMR][1000 genomes]
rs12575247	0.81[AMR][1000 genomes]
rs1569776	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34163689	0.80[AMR][1000 genomes]
rs3847589	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4140414	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5030203	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5030234	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5030270	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs5030277	0.81[ASN][1000 genomes]
rs5030280	0.81[ASN][1000 genomes]
rs5030281	0.81[ASN][1000 genomes]
rs5030310	0.84[AMR][1000 genomes]
rs59666608	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832108	chr11:32395937-32560583	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv1038188	chr11:32410305-32449799	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv1044547	chr11:32435753-32465233	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:32434000-32442400	Weak transcription	Right Ventricle	heart
2	chr11:32436400-32441800	Enhancers	Dnd41	blood
3	chr11:32436600-32442200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr11:32436600-32442200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr11:32437800-32440200	Strong transcription	K562	blood
6	chr11:32437800-32440800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr11:32438400-32442200	Weak transcription	Left Ventricle	heart
8	chr11:32438800-32442200	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr11:32438800-32447800	Weak transcription	Ovary	ovary
10	chr11:32439200-32440200	Weak transcription	Fetal Thymus	thymus
11	chr11:32439600-32440200	Enhancers	Fetal Kidney	kidney
12	chr11:32439800-32440200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
13	chr11:32439800-32441000	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr11:32440000-32440200	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr11:32440000-32440400	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr11:32440000-32440600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr11:32440000-32440600	Enhancers	Fetal Heart	heart
18	chr11:32440000-32440800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr11:32440000-32440800	Enhancers	Thymus	Thymus
20	chr11:32440000-32441000	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr11:32440000-32444400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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