Variant report

Variant	rs6422348
Chromosome Location	chr5:177863091-177863092
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:177861712..177865085-chr5:177866946..177869684,3	K562	blood:
2	chr5:177861712..177864496-chr5:177868184..177871226,3	K562	blood:
3	chr5:177844557..177846538-chr5:177860811..177863618,2	K562	blood:
4	chr5:177861063..177863215-chr5:177895852..177898464,2	K562	blood:
5	chr5:177851551..177854301-chr5:177861521..177864094,2	MCF-7	breast:
6	chr5:177861655..177863245-chr5:177875652..177877153,2	K562	blood:

Variant related genes	Relation type
ENSG00000245688	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10059706	0.90[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs10063674	0.87[CEU][hapmap];0.82[EUR][1000 genomes]
rs11956256	0.85[EUR][1000 genomes]
rs11956284	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs11956401	0.87[CEU][hapmap];0.81[EUR][1000 genomes]
rs11959914	0.91[YRI][hapmap]
rs17081256	0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs17081260	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs17648414	0.83[YRI][hapmap]
rs28673403	0.85[EUR][1000 genomes]
rs4383738	0.92[YRI][hapmap]
rs4618447	0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4976776	0.92[YRI][hapmap]
rs60745554	0.94[ASN][1000 genomes]
rs61636631	0.96[ASN][1000 genomes]
rs6422347	0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6601235	0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6601236	0.89[CHB][hapmap];0.94[JPT][hapmap];1.00[ASN][1000 genomes]
rs6601237	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6882668	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs6886832	0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6892799	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72648835	0.96[ASN][1000 genomes]
rs72648836	0.95[ASN][1000 genomes]
rs7711430	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7726125	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948342	chr5:177384542-178168737	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	141 gene(s)	inside rSNPs	diseases
2	nsv1029398	chr5:177502106-178070654	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	136 gene(s)	inside rSNPs	diseases
3	nsv1024689	chr5:177638936-177926244	Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv537968	chr5:177638936-177926244	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv427739	chr5:177766033-177966666	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv883210	chr5:177771925-177980792	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv883213	chr5:177811754-177947771	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv462570	chr5:177860454-178010145	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv600423	chr5:177860454-178010145	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177856800-177887200	Weak transcription	Right Atrium	heart
2	chr5:177857000-177863800	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr5:177859200-177866000	Genic enhancers	Fetal Thymus	thymus
4	chr5:177859400-177866600	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr5:177859800-177865000	Genic enhancers	Thymus	Thymus
6	chr5:177860000-177864600	Weak transcription	Lung	lung
7	chr5:177861600-177870000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr5:177861800-177863200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
9	chr5:177862200-177863800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr5:177862600-177863800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:177862600-177866200	Weak transcription	Fetal Heart	heart
12	chr5:177862600-177866400	Weak transcription	Fetal Lung	lung
13	chr5:177863000-177863600	Enhancers	Dnd41	blood
14	chr5:177863000-177863800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:177863000-177863800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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