Variant report

Variant	rs2179712
Chromosome Location	chr6:38827863-38827864
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HNF4A	chr6:38827840-38828109	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:38824139..38825694-chr6:38825696..38828144,2	K562	blood:
2	chr6:38827488..38829007-chr6:38833516..38835112,2	K562	blood:

Variant related genes	Relation type
DNAH8	TF binding region

Extended variants
information (count: 104 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:100)

rs_ID	r²[population]
rs1008227	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1018437	0.96[CEU][hapmap];0.94[EUR][1000 genomes]
rs1564377	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1564378	0.86[CHB][hapmap];0.86[ASN][1000 genomes]
rs1629877	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1678682	0.81[EUR][1000 genomes]
rs1678690	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs1678691	0.82[EUR][1000 genomes]
rs1678692	0.82[EUR][1000 genomes]
rs1678693	0.83[EUR][1000 genomes]
rs1678694	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1678695	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1678696	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1678697	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1678698	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1678699	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1678700	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1678701	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1678702	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1678703	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1678706	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1678707	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1678708	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1678709	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1678712	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1678717	0.96[CEU][hapmap];0.90[EUR][1000 genomes]
rs1678742	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs1738199	0.91[EUR][1000 genomes]
rs1738203	0.96[CEU][hapmap];0.90[EUR][1000 genomes]
rs1738211	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1738212	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1738215	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1738216	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1738217	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1738218	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1738219	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1738220	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs1738221	0.83[EUR][1000 genomes]
rs1738231	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs1738241	0.92[CEU][hapmap]
rs2061907	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2179711	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2179713	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2395709	1.00[CEU][hapmap];0.96[YRI][hapmap]
rs35696175	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4302660	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4380739	1.00[CEU][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4386804	1.00[CEU][hapmap];0.96[YRI][hapmap]
rs4391252	1.00[CEU][hapmap];0.90[YRI][hapmap]
rs4443498	1.00[CEU][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4501424	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4571559	0.96[CEU][hapmap];0.96[YRI][hapmap]
rs4590258	1.00[CEU][hapmap];0.89[YRI][hapmap]
rs4711558	1.00[CEU][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4711559	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4714193	1.00[CEU][hapmap];0.90[YRI][hapmap]
rs6458073	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6458074	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6458075	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6458076	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6458077	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6458078	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6458079	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6458080	1.00[CEU][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6458081	1.00[CEU][hapmap];0.93[YRI][hapmap]
rs6919465	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6928952	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6931736	1.00[CEU][hapmap];0.96[YRI][hapmap]
rs6934064	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7746153	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7748684	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7757460	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7772148	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs874808	0.92[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes]
rs9296265	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9349100	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9357290	1.00[CEU][hapmap];0.89[YRI][hapmap]
rs9366982	1.00[CEU][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9369085	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9369087	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9369088	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs9369089	1.00[CEU][hapmap];0.96[YRI][hapmap]
rs9380787	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9380788	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9380789	0.96[CEU][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9380791	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs9380792	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs9380795	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9380796	1.00[CEU][hapmap];0.96[YRI][hapmap]
rs9380798	1.00[CEU][hapmap];0.96[YRI][hapmap]
rs9380799	1.00[CEU][hapmap];0.96[YRI][hapmap]
rs9380804	0.85[CHB][hapmap]
rs9394544	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9394545	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9394547	1.00[CEU][hapmap];0.96[YRI][hapmap]
rs9394549	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap]
rs9394550	1.00[CEU][hapmap]
rs984523	0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs984524	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs984525	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	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
3	nsv1028088	chr6:38821047-39163549	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv538205	chr6:38821047-39163549	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 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	chr6:38824200-38829800	Enhancers	Liver	Liver
2	chr6:38827600-38828200	Enhancers	HepG2	liver

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