Variant report

Variant	rs2284722
Chromosome Location	chr14:81444367-81444368
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	Chromatin interaction

Extended variants
information (count: 110 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:106)

rs_ID	r²[population]
rs10133034	0.86[JPT][hapmap]
rs10141970	0.81[JPT][hapmap]
rs10142753	0.81[JPT][hapmap]
rs10149689	0.94[CHD][hapmap]
rs1016699	0.87[JPT][hapmap]
rs1038523	0.81[JPT][hapmap]
rs11625199	0.81[JPT][hapmap]
rs11627934	0.87[JPT][hapmap]
rs11845052	0.94[ASN][1000 genomes]
rs11850464	0.94[ASN][1000 genomes]
rs1197467	0.81[JPT][hapmap]
rs1197474	0.81[JPT][hapmap]
rs12050077	0.94[CHD][hapmap]
rs12050078	0.88[CHB][hapmap];0.97[CHD][hapmap];0.81[JPT][hapmap]
rs12050342	0.81[JPT][hapmap]
rs12050350	0.87[CHB][hapmap];0.81[JPT][hapmap]
rs12050416	0.87[JPT][hapmap]
rs12433134	0.87[JPT][hapmap]
rs12434318	0.87[JPT][hapmap]
rs12437005	0.88[ASN][1000 genomes]
rs12437260	0.81[JPT][hapmap]
rs12896769	0.89[ASN][1000 genomes]
rs162171	0.81[JPT][hapmap]
rs162174	0.81[JPT][hapmap]
rs170595	0.81[JPT][hapmap]
rs170596	0.81[JPT][hapmap]
rs17544968	0.94[ASN][1000 genomes]
rs17545038	0.94[ASN][1000 genomes]
rs17545310	0.87[ASN][1000 genomes]
rs17615020	0.81[JPT][hapmap]
rs179243	0.88[CHB][hapmap];0.90[CHD][hapmap]
rs179249	0.91[ASN][1000 genomes]
rs179251	0.91[ASN][1000 genomes]
rs179254	0.85[ASN][1000 genomes]
rs179257	0.93[ASN][1000 genomes]
rs1863766	0.81[JPT][hapmap]
rs1990597	0.93[ASN][1000 genomes]
rs2010847	0.81[JPT][hapmap]
rs2024427	0.94[CHB][hapmap];0.87[JPT][hapmap];0.93[ASN][1000 genomes]
rs2110696	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2195103	0.94[CHD][hapmap]
rs2217177	0.93[CHD][hapmap]
rs2268457	0.93[ASN][1000 genomes]
rs2268458	0.88[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs2268460	0.82[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs228119	0.87[JPT][hapmap]
rs228122	0.81[JPT][hapmap]
rs2284718	0.92[ASN][1000 genomes]
rs2284719	0.92[ASN][1000 genomes]
rs2284720	0.94[CHB][hapmap];0.96[CHD][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs2284727	0.93[ASN][1000 genomes]
rs2288347	0.81[JPT][hapmap]
rs2556607	0.87[JPT][hapmap]
rs2556611	0.81[JPT][hapmap]
rs2619661	0.81[JPT][hapmap]
rs28850656	0.87[JPT][hapmap]
rs2888032	0.81[JPT][hapmap]
rs327423	0.81[JPT][hapmap]
rs327424	0.81[JPT][hapmap]
rs327428	0.81[JPT][hapmap]
rs327429	0.81[JPT][hapmap]
rs327434	0.81[JPT][hapmap]
rs327452	0.81[JPT][hapmap]
rs327454	0.81[JPT][hapmap]
rs328206	0.81[JPT][hapmap]
rs328212	0.81[JPT][hapmap]
rs328213	0.81[JPT][hapmap]
rs3783945	0.95[ASN][1000 genomes]
rs3783951	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4899780	0.87[JPT][hapmap]
rs4903949	0.81[JPT][hapmap]
rs4903957	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs4903958	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.88[LWK][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4903959	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5002906	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55945219	0.94[ASN][1000 genomes]
rs59431750	0.95[ASN][1000 genomes]
rs59711583	0.94[ASN][1000 genomes]
rs6574608	0.81[JPT][hapmap]
rs6574609	0.87[JPT][hapmap]
rs6574610	0.81[JPT][hapmap]
rs7140452	0.87[JPT][hapmap]
rs7157845	0.81[JPT][hapmap]
rs7158936	0.81[JPT][hapmap]
rs722906	0.81[JPT][hapmap]
rs724169	0.94[ASN][1000 genomes]
rs726020	0.88[CHB][hapmap];0.81[JPT][hapmap]
rs72693057	0.92[ASN][1000 genomes]
rs72693068	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72693069	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72693070	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72693072	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72693073	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72693075	0.96[ASN][1000 genomes]
rs72693078	0.93[ASN][1000 genomes]
rs72693080	0.93[ASN][1000 genomes]
rs72693090	0.94[ASN][1000 genomes]
rs72693093	0.93[ASN][1000 genomes]
rs72693096	0.94[ASN][1000 genomes]
rs74064796	0.94[ASN][1000 genomes]
rs759919	0.87[JPT][hapmap]
rs768359	0.87[JPT][hapmap]
rs8008366	0.81[JPT][hapmap]
rs8016507	0.81[JPT][hapmap]
rs917985	0.86[ASN][1000 genomes]
rs929630	0.89[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2284722	C14orf145	cis	parietal	SCAN
rs2284722	IZUMO1	trans	parietal	SCAN

Chromatin state (count:16 , 50 per page) page: 1

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

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