Variant report

Variant	rs4388968
Chromosome Location	chr12:104635348-104635349
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:104633027..104635535-chr12:104637306..104638927,2	K562	blood:

Extended variants
information (count: 79 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10400561	0.82[ASN][1000 genomes]
rs10507174	0.85[CEU][hapmap]
rs10735392	1.00[CEU][hapmap];0.91[AMR][1000 genomes]
rs10735393	1.00[CEU][hapmap]
rs10735395	0.89[AMR][1000 genomes]
rs10745995	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10745996	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10778316	0.85[JPT][hapmap]
rs10861169	1.00[JPT][hapmap]
rs10861178	0.85[AMR][1000 genomes]
rs10861180	0.88[JPT][hapmap]
rs10861204	1.00[CEU][hapmap];0.89[AMR][1000 genomes]
rs11111943	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11111955	0.95[ASN][1000 genomes]
rs12424869	0.85[JPT][hapmap]
rs12426862	0.85[CEU][hapmap]
rs17035324	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17202862	0.88[CEU][hapmap]
rs4129598	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4246264	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4246269	1.00[CEU][hapmap];0.89[AMR][1000 genomes]
rs4246270	0.89[AMR][1000 genomes]
rs4246271	1.00[CEU][hapmap];0.89[AMR][1000 genomes]
rs4406890	1.00[JPT][hapmap]
rs4447242	0.87[AMR][1000 genomes]
rs4475991	0.86[JPT][hapmap]
rs4502051	0.91[AMR][1000 genomes]
rs4545635	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4614534	0.88[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.89[AMR][1000 genomes]
rs4630362	1.00[CEU][hapmap]
rs4964227	1.00[CEU][hapmap]
rs4964228	1.00[CEU][hapmap]
rs4964257	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4964260	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4964270	0.95[ASN][1000 genomes]
rs4964271	0.91[ASN][1000 genomes]
rs4964288	1.00[CEU][hapmap];0.89[AMR][1000 genomes]
rs4964627	0.89[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes]
rs4964632	0.84[AMR][1000 genomes]
rs4964727	0.84[EUR][1000 genomes]
rs4964728	0.88[JPT][hapmap]
rs4964732	0.81[EUR][1000 genomes]
rs4964741	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4964752	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4964761	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4964779	1.00[CEU][hapmap];0.91[AMR][1000 genomes]
rs4964784	0.89[AMR][1000 genomes]
rs6419386	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6539128	0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6539131	0.84[EUR][1000 genomes]
rs6539137	1.00[CEU][hapmap]
rs7132418	0.89[CEU][hapmap];0.82[JPT][hapmap];0.91[AMR][1000 genomes]
rs7138035	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7138317	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7139336	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7294997	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7295413	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7298613	0.91[AMR][1000 genomes]
rs7299866	0.88[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes]
rs7305872	0.93[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7310505	0.88[JPT][hapmap]
rs7313063	0.86[JPT][hapmap]
rs73181916	0.82[AMR][1000 genomes]
rs7957725	0.89[CEU][hapmap];0.82[AMR][1000 genomes]
rs7958851	0.93[ASN][1000 genomes]
rs7962423	1.00[CEU][hapmap];0.87[AMR][1000 genomes]
rs7969351	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7972034	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7975161	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7978101	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9738614	0.89[AMR][1000 genomes]
rs9739826	0.89[AMR][1000 genomes]
rs9739833	1.00[CEU][hapmap];0.89[AMR][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	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
2	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
3	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
4	nsv1046606	chr12:104606617-104763734	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv1038609	chr12:104613847-104764981	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv541587	chr12:104613847-104764981	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104632200-104640000	Weak transcription	Right Atrium	heart
2	chr12:104634200-104636600	Weak transcription	A549	lung

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