Variant report

Variant	rs2284721
Chromosome Location	chr14:81444085-81444086
allele	C/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	MYC	chr14:81443733-81444182	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:81443218..81445707-chr14:81448649..81450326,2	K562	blood:
2	chr14:81437706..81439686-chr14:81442892..81444755,2	MCF-7	breast:
3	chr14:81442891..81446024-chr14:81447547..81451295,3	K562	blood:

Variant related genes	Relation type
ENSG00000258915	TF binding region
ENSG00000258915	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs1035145	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap];0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11850285	0.87[ASN][1000 genomes]
rs12147744	0.90[JPT][hapmap]
rs12586161	0.90[JPT][hapmap]
rs12587367	0.83[JPT][hapmap]
rs12587883	0.81[GIH][hapmap]
rs12589960	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12590262	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12890859	0.91[CHD][hapmap];0.88[GIH][hapmap];0.90[JPT][hapmap]
rs12892567	0.93[CHD][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];0.93[YRI][hapmap];0.82[AMR][1000 genomes]
rs2110695	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2160214	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2268453	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2268462	0.83[AMR][1000 genomes]
rs2268463	0.83[AMR][1000 genomes]
rs2268464	0.83[AMR][1000 genomes]
rs2268465	0.81[AMR][1000 genomes]
rs2284715	0.90[JPT][hapmap];0.93[YRI][hapmap];0.82[AMR][1000 genomes]
rs2284716	0.90[JPT][hapmap];0.93[YRI][hapmap];0.82[AMR][1000 genomes]
rs2284723	0.94[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2284725	0.88[ASN][1000 genomes]
rs2284728	0.88[ASN][1000 genomes]
rs2284729	0.85[AMR][1000 genomes]
rs2284731	0.85[AMR][1000 genomes]
rs2284732	0.85[AMR][1000 genomes]
rs2300516	0.83[YRI][hapmap]
rs2300517	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2300518	0.91[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2300520	0.83[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];0.86[ASN][1000 genomes]
rs35789224	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs36193909	0.98[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3742720	0.81[GIH][hapmap]
rs3783944	0.83[AMR][1000 genomes]
rs3783946	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4411444	0.83[YRI][hapmap]
rs56169819	0.85[AMR][1000 genomes]
rs58729405	0.82[AMR][1000 genomes]
rs58838870	0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs59103962	0.91[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs59627467	0.88[ASN][1000 genomes]
rs67130762	0.85[AMR][1000 genomes]
rs67256654	0.85[AMR][1000 genomes]
rs67391693	0.83[AMR][1000 genomes]
rs68104217	0.85[AMR][1000 genomes]
rs7149900	0.85[AMR][1000 genomes]
rs7150082	0.83[AMR][1000 genomes]
rs7154106	0.85[AMR][1000 genomes]
rs7154821	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72693081	0.94[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs72693091	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs8003402	1.00[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.93[YRI][hapmap];0.96[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8003515	0.83[YRI][hapmap]
rs8007809	0.81[AMR][1000 genomes]
rs8022899	0.87[AMR][1000 genomes];0.86[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	nsv869348	chr14:80921098-81535754	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv2761847	chr14:81392124-81453137	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
3	nsv456346	chr14:81399692-81448382	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
4	nsv565291	chr14:81399692-81448382	Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2284721	IZUMO1	trans	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81440600-81444200	Enhancers	Placenta Amnion	Placenta Amnion
2	chr14:81440600-81444600	Weak transcription	Primary T cells from cord blood	blood
3	chr14:81440800-81444600	Weak transcription	Fetal Muscle Leg	muscle
4	chr14:81441400-81444400	Enhancers	Fetal Thymus	thymus
5	chr14:81442000-81444200	Weak transcription	Fetal Brain Male	brain
6	chr14:81442000-81446000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr14:81442200-81444400	Weak transcription	Brain Germinal Matrix	brain
8	chr14:81442200-81444800	Weak transcription	Brain Anterior Caudate	brain
9	chr14:81442200-81446200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr14:81442200-81447600	Weak transcription	Colon Smooth Muscle	Colon
11	chr14:81442800-81444800	Enhancers	Placenta	Placenta
12	chr14:81443800-81445000	Flanking Active TSS	Thymus	Thymus
13	chr14:81443800-81445600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr14:81444000-81444400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr14:81444000-81445000	Enhancers	Primary T cells fromperipheralblood	blood
16	chr14:81444000-81445800	Flanking Active TSS	Dnd41	blood
17	chr14:81444000-81447800	Weak transcription	Aorta	Aorta
18	chr14:81444000-81447800	Weak transcription	Rectal Mucosa Donor 31	rectum

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