Variant report

Variant	rs1678664
Chromosome Location	chr6:38750812-38750813
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:38745585..38748255-chr6:38749939..38751759,3	K562	blood:
2	chr6:38745585..38748402-chr6:38749939..38752656,4	K562	blood:
3	chr6:38749592..38751313-chr6:38753149..38755340,2	MCF-7	breast:

Extended variants
information (count: 50 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs12173602	0.85[EUR][1000 genomes]
rs1618834	0.82[ASN][1000 genomes]
rs1622275	0.81[CHB][hapmap]
rs1678639	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs1678654	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs1678656	0.88[CEU][hapmap];0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs1678658	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs1678666	0.90[CHB][hapmap];0.85[CHD][hapmap];0.83[ASN][1000 genomes]
rs1678672	0.85[EUR][1000 genomes]
rs1678673	0.87[EUR][1000 genomes]
rs1678674	0.95[CHB][hapmap];0.89[CHD][hapmap];0.87[JPT][hapmap];0.85[MEX][hapmap];0.91[ASN][1000 genomes]
rs1678678	0.89[ASW][hapmap];0.94[LWK][hapmap];0.83[MKK][hapmap];0.81[TSI][hapmap];0.87[EUR][1000 genomes]
rs1678679	0.84[EUR][1000 genomes]
rs1678686	0.81[CHB][hapmap]
rs1678743	0.81[JPT][hapmap]
rs16891139	0.81[JPT][hapmap]
rs1738179	0.85[EUR][1000 genomes]
rs1738183	0.85[EUR][1000 genomes]
rs1738188	0.81[JPT][hapmap]
rs1738224	0.90[CHB][hapmap];0.84[ASN][1000 genomes]
rs1738226	0.81[CHB][hapmap];0.82[CHD][hapmap]
rs1738233	0.81[CHB][hapmap]
rs1738237	0.80[ASN][1000 genomes]
rs1738242	0.90[CHB][hapmap];0.80[ASN][1000 genomes]
rs1738246	0.85[ASN][1000 genomes]
rs1738249	0.81[CHB][hapmap]
rs1738252	0.87[CEU][hapmap];0.81[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs1738253	0.88[CEU][hapmap];0.81[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs1738254	0.89[ASW][hapmap];0.88[CEU][hapmap];1.00[LWK][hapmap];0.83[MKK][hapmap];0.81[TSI][hapmap];0.84[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs1738255	0.88[CEU][hapmap];0.81[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs1738256	0.88[CEU][hapmap];0.81[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs1738262	0.89[ASW][hapmap];0.88[CEU][hapmap];1.00[LWK][hapmap];0.83[MKK][hapmap];0.81[TSI][hapmap];0.84[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs1738265	0.88[CEU][hapmap];0.81[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs1738267	0.89[ASW][hapmap];0.88[CEU][hapmap];1.00[LWK][hapmap];0.82[MKK][hapmap];0.81[TSI][hapmap];0.87[EUR][1000 genomes]
rs1738268	0.87[EUR][1000 genomes]
rs3823429	0.81[JPT][hapmap]
rs4452640	0.81[JPT][hapmap]
rs4714178	0.81[TSI][hapmap];0.87[EUR][1000 genomes]
rs6912563	0.80[CHB][hapmap]
rs9357280	0.81[TSI][hapmap];0.82[EUR][1000 genomes]
rs9380803	0.81[JPT][hapmap]
rs9394532	0.81[TSI][hapmap];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv885817	chr6:38036420-39019503	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv830642	chr6:38645056-38800657	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv830643	chr6:38726675-38905589	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv462915	chr6:38728142-38773293	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv602959	chr6:38728142-38786528	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv470814	chr6:38728142-38790149	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv462916	chr6:38747770-38782401	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv602960	chr6:38747770-38782401	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1678664	DNAH8	cis	multi-tissue	Pritchard

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38750400-38751000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr6:38750400-38751000	Flanking Active TSS	K562	blood
3	chr6:38750400-38751800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:38750800-38752600	Enhancers	Fetal Kidney	kidney

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