Variant report

Variant	rs1678674
Chromosome Location	chr6:38759379-38759380
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:38758085..38759601-chr6:38760717..38763383,2	K562	blood:
2	chr6:38758290..38761178-chr6:38769985..38772516,2	K562	blood:
3	chr6:38753809..38755972-chr6:38756786..38759773,2	MCF-7	breast:

Extended variants
information (count: 74 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs1615441	0.82[JPT][hapmap]
rs1616105	0.83[JPT][hapmap]
rs1618774	0.83[JPT][hapmap]
rs1618834	0.90[ASN][1000 genomes]
rs1622275	0.85[CHB][hapmap];0.81[ASN][1000 genomes]
rs1678639	0.81[YRI][hapmap]
rs1678656	0.87[CEU][hapmap]
rs1678664	0.95[CHB][hapmap];0.89[CHD][hapmap];0.87[JPT][hapmap];0.85[MEX][hapmap];0.91[ASN][1000 genomes]
rs1678666	0.95[CHB][hapmap];0.84[CHD][hapmap];0.88[JPT][hapmap];0.82[YRI][hapmap];0.89[ASN][1000 genomes]
rs1678676	0.85[ASN][1000 genomes]
rs1678678	0.82[YRI][hapmap]
rs1678686	0.85[CHB][hapmap];0.81[ASN][1000 genomes]
rs1678710	0.83[JPT][hapmap]
rs1678711	0.83[JPT][hapmap]
rs1678716	0.83[JPT][hapmap]
rs1678719	0.83[JPT][hapmap]
rs1678720	0.83[JPT][hapmap]
rs1678721	0.83[JPT][hapmap]
rs1678722	0.81[JPT][hapmap]
rs1678724	0.83[JPT][hapmap]
rs1678728	0.83[JPT][hapmap]
rs1678729	0.82[JPT][hapmap]
rs1678731	0.83[JPT][hapmap]
rs1678733	0.83[JPT][hapmap]
rs1678734	0.83[JPT][hapmap]
rs1678735	0.83[JPT][hapmap]
rs1678737	0.83[JPT][hapmap]
rs1678741	0.83[JPT][hapmap]
rs1678743	0.85[CEU][hapmap];0.94[JPT][hapmap]
rs16891139	0.94[JPT][hapmap];0.83[AMR][1000 genomes]
rs1738179	0.81[YRI][hapmap]
rs1738188	0.85[CEU][hapmap];0.92[GIH][hapmap];0.94[JPT][hapmap];1.00[TSI][hapmap]
rs1738189	0.83[JPT][hapmap]
rs1738190	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs1738191	0.88[JPT][hapmap]
rs1738193	0.83[JPT][hapmap]
rs1738194	0.83[JPT][hapmap]
rs1738198	0.83[JPT][hapmap]
rs1738200	0.83[JPT][hapmap]
rs1738206	0.83[JPT][hapmap]
rs1738207	0.83[JPT][hapmap]
rs1738209	0.83[JPT][hapmap]
rs1738210	0.82[CHB][hapmap]
rs1738224	0.95[CHB][hapmap];0.88[JPT][hapmap];0.92[ASN][1000 genomes]
rs1738226	0.85[CHB][hapmap];0.82[CHD][hapmap];0.81[ASN][1000 genomes]
rs1738233	0.85[CHB][hapmap];0.88[JPT][hapmap];0.84[ASN][1000 genomes]
rs1738234	0.84[ASN][1000 genomes]
rs1738237	0.88[ASN][1000 genomes]
rs1738242	0.95[CHB][hapmap];0.88[JPT][hapmap];0.87[YRI][hapmap];0.88[ASN][1000 genomes]
rs1738246	0.93[ASN][1000 genomes]
rs1738249	0.85[CHB][hapmap]
rs1738252	1.00[CEU][hapmap]
rs1738253	0.87[CEU][hapmap]
rs1738254	0.87[CEU][hapmap]
rs1738255	0.87[CEU][hapmap]
rs1738256	0.87[CEU][hapmap]
rs1738262	0.87[CEU][hapmap]
rs1738265	0.87[CEU][hapmap]
rs1738267	0.87[CEU][hapmap]
rs3823429	0.85[CEU][hapmap];0.81[JPT][hapmap];1.00[TSI][hapmap]
rs4452640	0.85[CEU][hapmap];0.81[JPT][hapmap];1.00[TSI][hapmap]
rs4711561	0.85[CEU][hapmap];1.00[TSI][hapmap]
rs6912563	0.85[CHB][hapmap];0.81[ASN][1000 genomes]
rs7757442	0.85[CEU][hapmap]
rs9357285	0.85[CEU][hapmap];0.85[JPT][hapmap]
rs9380803	0.85[CEU][hapmap];0.84[CHB][hapmap];0.87[JPT][hapmap]

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
rs1678674	DNAH8	cis	multi-tissue	Pritchard

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38751800-38763400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr6:38754600-38764000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:38758200-38763400	Weak transcription	HUVEC	blood vessel
4	chr6:38758800-38759400	Enhancers	K562	blood
5	chr6:38759200-38759800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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