Variant report

Variant	rs7147107
Chromosome Location	chr14:104401376-104401377
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:104399690..104401761-chr14:104403081..104405618,2	K562	blood:
2	chr14:104394897..104396539-chr14:104399297..104402064,2	MCF-7	breast:
3	chr14:104400120..104402233-chr14:104410455..104413050,2	MCF-7	breast:
4	chr14:104399167..104401671-chr14:104406191..104408805,2	K562	blood:

Variant related genes	Relation type
ENSG00000156414	Chromatin interaction
ENSG00000227729	Chromatin interaction

Extended variants
information (count: 89 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10132127	0.86[CEU][hapmap];0.81[EUR][1000 genomes]
rs10132153	0.85[CEU][hapmap];0.81[EUR][1000 genomes]
rs10139271	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10139483	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10143030	0.83[CEU][hapmap]
rs10143389	0.82[CEU][hapmap]
rs10147923	0.82[CEU][hapmap];0.82[EUR][1000 genomes]
rs10149351	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10149630	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10149734	0.89[CEU][hapmap];0.83[EUR][1000 genomes]
rs1018535	0.81[EUR][1000 genomes]
rs10220464	0.85[EUR][1000 genomes]
rs10467890	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11160773	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11160778	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs11160783	0.81[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap]
rs11160784	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs11623042	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11625083	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11626187	0.84[EUR][1000 genomes]
rs11626960	0.89[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs11628540	0.93[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs11628717	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs11850186	0.83[EUR][1000 genomes]
rs11851097	0.85[CEU][hapmap];0.81[EUR][1000 genomes]
rs12100528	0.80[CEU][hapmap]
rs12147460	0.82[CEU][hapmap];0.81[EUR][1000 genomes]
rs12589388	0.83[EUR][1000 genomes]
rs12589390	0.83[EUR][1000 genomes]
rs12886010	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12890969	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12895187	0.93[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs12896676	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1309320	0.85[EUR][1000 genomes]
rs1744263	0.81[EUR][1000 genomes]
rs1744266	0.81[EUR][1000 genomes]
rs1770998	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs1957517	0.81[EUR][1000 genomes]
rs2146241	0.85[EUR][1000 genomes]
rs2208431	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2273842	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs28461376	0.85[EUR][1000 genomes]
rs28505294	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28574832	0.80[EUR][1000 genomes]
rs28592598	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2887389	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4900604	0.80[EUR][1000 genomes]
rs4900605	0.82[CEU][hapmap];0.80[EUR][1000 genomes]
rs4900607	0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4906387	0.83[EUR][1000 genomes]
rs4906389	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4906391	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4906392	0.86[CEU][hapmap];0.83[EUR][1000 genomes]
rs4906395	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7143739	0.93[CEU][hapmap];0.96[CHB][hapmap];0.90[JPT][hapmap];0.84[EUR][1000 genomes]
rs7144813	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7145703	0.92[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs7148877	0.82[CEU][hapmap];0.83[EUR][1000 genomes]
rs7149412	0.85[CEU][hapmap];0.87[CHB][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7150461	0.84[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap]
rs7152856	0.93[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs7154082	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7156122	0.93[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.84[EUR][1000 genomes]
rs7160557	0.93[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7161468	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72712884	0.81[EUR][1000 genomes]
rs72712889	0.83[EUR][1000 genomes]
rs74089113	0.85[EUR][1000 genomes]
rs8003075	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8008510	0.82[CEU][hapmap];0.80[JPT][hapmap];0.81[EUR][1000 genomes]
rs8009349	0.81[EUR][1000 genomes]
rs8014546	0.83[CEU][hapmap]
rs8022833	0.81[EUR][1000 genomes]
rs877009	0.82[CEU][hapmap]
rs9285602	0.82[CEU][hapmap];0.85[EUR][1000 genomes]
rs9324066	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9324068	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs9324069	0.82[CEU][hapmap];0.85[EUR][1000 genomes]
rs9671921	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045162	chr14:104140525-104594841	Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv542204	chr14:104140525-104594841	Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	esv2758368	chr14:104147525-104412813	Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	esv2760013	chr14:104147525-104412813	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	nsv902318	chr14:104255083-104464809	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv902319	chr14:104255083-104620077	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	64 gene(s)	inside rSNPs	diseases
7	nsv1048353	chr14:104361402-104483286	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	nsv902322	chr14:104365310-104464809	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv902323	chr14:104381687-104464809	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	nsv902324	chr14:104399640-104464809	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7147107	C14orf2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104398600-104404600	Weak transcription	Left Ventricle	heart
2	chr14:104399600-104402000	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr14:104400000-104402000	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr14:104400200-104403000	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr14:104400400-104401400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr14:104400400-104401600	Enhancers	HepG2	liver
7	chr14:104400600-104401600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr14:104400600-104402600	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr14:104401200-104401800	Active TSS	Spleen	Spleen

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links