Variant report

Variant	rs4614534
Chromosome Location	chr12:104597917-104597918
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:104597056..104598985-chr12:104602971..104604502,2	K562	blood:
2	chr12:104530714..104532994-chr12:104595318..104598435,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000120837	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10507174	0.84[CEU][hapmap];0.85[CHB][hapmap];0.80[CHD][hapmap];0.83[GIH][hapmap];1.00[MKK][hapmap]
rs10507175	0.85[CEU][hapmap];0.85[CHB][hapmap];0.86[MEX][hapmap]
rs10735392	1.00[ASW][hapmap];0.86[CEU][hapmap];0.86[MEX][hapmap];0.80[AMR][1000 genomes]
rs10735393	0.86[CEU][hapmap]
rs10745995	1.00[ASW][hapmap];0.86[CEU][hapmap];0.85[CHB][hapmap];0.86[MEX][hapmap];1.00[MKK][hapmap]
rs10745996	1.00[ASW][hapmap];0.86[CEU][hapmap];0.85[CHB][hapmap];0.86[MEX][hapmap];1.00[MKK][hapmap]
rs10861169	0.89[JPT][hapmap]
rs10861204	0.86[CEU][hapmap]
rs11111898	0.85[CEU][hapmap];0.85[CHB][hapmap]
rs11111943	0.89[AMR][1000 genomes]
rs12422505	0.85[CHB][hapmap]
rs12423844	0.85[CEU][hapmap];0.85[CHB][hapmap]
rs12424869	0.88[JPT][hapmap]
rs12424943	0.85[CEU][hapmap];0.85[CHB][hapmap]
rs12426862	0.85[CHB][hapmap]
rs12427339	0.85[CEU][hapmap];0.80[CHD][hapmap]
rs12582966	0.85[CEU][hapmap];0.85[CHB][hapmap]
rs12825521	0.85[CEU][hapmap];0.85[CHB][hapmap]
rs17035153	1.00[MKK][hapmap]
rs17035324	1.00[CHB][hapmap];0.90[CHD][hapmap];0.89[JPT][hapmap];0.86[ASN][1000 genomes]
rs17035504	1.00[MKK][hapmap]
rs17192854	0.85[CEU][hapmap];0.85[CHB][hapmap];0.80[CHD][hapmap];0.83[GIH][hapmap];1.00[MKK][hapmap]
rs17805748	0.85[CEU][hapmap];0.85[CHB][hapmap]
rs17805766	0.85[CEU][hapmap];0.85[CHB][hapmap]
rs17806643	0.81[GIH][hapmap]
rs4129598	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4131750	0.85[CEU][hapmap];0.85[CHB][hapmap];0.80[CHD][hapmap];0.88[GIH][hapmap]
rs4131752	0.85[CEU][hapmap];0.85[CHB][hapmap]
rs4246264	0.93[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.89[AMR][1000 genomes]
rs4246269	0.86[CEU][hapmap]
rs4246271	0.86[CEU][hapmap]
rs4340124	0.85[CEU][hapmap]
rs4388968	0.88[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.89[AMR][1000 genomes]
rs4406890	0.83[CHD][hapmap];0.89[JPT][hapmap];0.87[MEX][hapmap]
rs4475991	0.83[CHD][hapmap];1.00[JPT][hapmap]
rs4502051	0.80[AMR][1000 genomes]
rs4545635	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.89[AMR][1000 genomes]
rs4630362	0.84[CEU][hapmap]
rs4964226	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4964227	0.93[CEU][hapmap]
rs4964228	0.93[CEU][hapmap]
rs4964257	0.89[AMR][1000 genomes]
rs4964260	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];0.89[AMR][1000 genomes]
rs4964288	1.00[ASW][hapmap];0.86[CEU][hapmap];0.86[MEX][hapmap];1.00[MKK][hapmap]
rs4964627	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4964632	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4964728	0.83[CHD][hapmap];0.87[MEX][hapmap]
rs4964741	0.82[AMR][1000 genomes]
rs4964752	1.00[ASW][hapmap];0.86[CEU][hapmap];0.86[MEX][hapmap];1.00[MKK][hapmap];0.81[AMR][1000 genomes]
rs4964761	1.00[ASW][hapmap];0.86[CEU][hapmap];0.86[MEX][hapmap];1.00[MKK][hapmap];0.82[AMR][1000 genomes]
rs4964779	1.00[ASW][hapmap];0.86[CEU][hapmap];0.86[MEX][hapmap];1.00[MKK][hapmap];0.80[AMR][1000 genomes]
rs61939221	0.86[ASN][1000 genomes]
rs61939222	0.94[ASN][1000 genomes]
rs6419386	0.89[AMR][1000 genomes]
rs6539128	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6539137	0.83[CEU][hapmap]
rs7132418	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7138035	0.91[CEU][hapmap]
rs7138317	0.92[CEU][hapmap];0.86[AMR][1000 genomes]
rs7139336	0.82[AMR][1000 genomes]
rs7294997	1.00[CEU][hapmap];0.82[AMR][1000 genomes]
rs7298613	0.80[AMR][1000 genomes]
rs7299866	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7305872	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7313063	0.83[CHD][hapmap];1.00[JPT][hapmap]
rs7314893	1.00[JPT][hapmap]
rs7957723	0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs7957725	1.00[CEU][hapmap];0.89[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7962423	0.86[CEU][hapmap]
rs7969351	0.81[AMR][1000 genomes]
rs7975161	1.00[CHB][hapmap];0.91[CHD][hapmap];0.89[JPT][hapmap];0.93[MEX][hapmap]
rs7978101	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9739833	0.86[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045725	chr12:104524153-104614108	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	n/a
2	nsv541586	chr12:104524153-104614108	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	n/a
3	esv1842062	chr12:104531180-104638773	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	n/a
4	nsv899493	chr12:104548613-104703228	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers 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	30 gene(s)	inside rSNPs	diseases
5	nsv899494	chr12:104561521-104806232	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104595400-104598400	Weak transcription	Ovary	ovary
2	chr12:104595400-104598600	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr12:104595600-104598400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:104595600-104598400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:104595600-104598400	Weak transcription	Placenta	Placenta
6	chr12:104595600-104599600	Weak transcription	A549	lung

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