Variant report

Variant	rs2349211
Chromosome Location	chr6:114493801-114493802
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	ARID3A	chr6:114493457-114494086	HepG2	liver:	n/a	n/a
2	GATA1	chr6:114493623-114494211	PBDE	blood:	n/a	chr6:114493917-114493924 chr6:114493912-114493928 chr6:114493913-114493926 chr6:114493906-114493923 chr6:114493915-114493924

Variant related genes	Relation type
HS3ST5	TF binding region

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10782179	0.82[ASN][1000 genomes]
rs1401774	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2139414	0.96[ASN][1000 genomes]
rs34481741	0.80[ASN][1000 genomes]
rs4945993	0.82[ASN][1000 genomes]
rs6915954	0.82[ASN][1000 genomes]
rs6928606	0.82[ASN][1000 genomes]
rs6936717	0.82[ASN][1000 genomes]
rs7746324	0.95[CHB][hapmap];0.81[ASN][1000 genomes]
rs7751951	0.95[CHB][hapmap];0.93[JPT][hapmap];0.97[ASN][1000 genomes]
rs7766866	0.95[CHB][hapmap];0.93[JPT][hapmap];0.97[ASN][1000 genomes]
rs925981	0.94[CHB][hapmap];0.81[ASN][1000 genomes]
rs925982	0.82[ASN][1000 genomes]
rs925983	0.82[ASN][1000 genomes]
rs928606	0.82[ASN][1000 genomes]
rs9320481	0.95[CHB][hapmap];0.93[JPT][hapmap];0.97[ASN][1000 genomes]
rs9320482	0.95[CHB][hapmap];0.93[JPT][hapmap];0.97[ASN][1000 genomes]
rs9320483	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9320486	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9372389	0.97[ASN][1000 genomes]
rs9372390	0.82[ASN][1000 genomes]
rs9374441	0.82[ASN][1000 genomes]
rs9374443	0.82[ASN][1000 genomes]
rs9387194	0.97[ASN][1000 genomes]
rs9387195	0.95[ASN][1000 genomes]
rs9387196	0.82[ASN][1000 genomes]
rs9400698	0.97[ASN][1000 genomes]
rs9400699	0.96[ASN][1000 genomes]
rs9400700	0.82[ASN][1000 genomes]
rs9400701	0.82[ASN][1000 genomes]
rs9400702	0.82[ASN][1000 genomes]
rs9400703	0.82[ASN][1000 genomes]
rs9481426	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9481430	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9481433	0.89[CEU][hapmap];1.00[CHB][hapmap];0.88[YRI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9488340	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[YRI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9488343	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[YRI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs984769	0.82[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	nsv1024062	chr6:114311029-114679557	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
2	nsv1034897	chr6:114454186-114555679	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv34434	chr6:114465305-115462799	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv1029370	chr6:114471446-114566884	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv464024	chr6:114489321-114837181	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
6	nsv604544	chr6:114489321-114837181	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:114476200-114497800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:114485400-114497800	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr6:114489000-114496600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr6:114489800-114494000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr6:114489800-114495200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr6:114490000-114502800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr6:114490800-114497200	Weak transcription	Brain Hippocampus Middle	brain
8	chr6:114490800-114502800	Weak transcription	Brain Anterior Caudate	brain
9	chr6:114492000-114495600	Enhancers	HepG2	liver
10	chr6:114492600-114515000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr6:114493000-114494400	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr6:114493000-114494600	Enhancers	Liver	Liver
13	chr6:114493200-114494800	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr6:114493400-114494200	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr6:114493600-114494000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr6:114493600-114494200	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr6:114493600-114494400	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr6:114493800-114494400	Enhancers	iPS-20b Cell Line	embryonic stem cell

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