Variant report

Variant	rs6664612
Chromosome Location	chr1:169428618-169428619
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:169427014..169428669-chr1:169455254..169457824,2	K562	blood:

Variant related genes	Relation type
ENSG00000213062	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs16862089	0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs16862091	0.86[YRI][hapmap];1.00[AMR][1000 genomes]
rs16862101	0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs57339033	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57556667	1.00[AMR][1000 genomes]
rs58003088	1.00[AMR][1000 genomes]
rs58149696	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58775541	1.00[AMR][1000 genomes]
rs58860567	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6656776	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6687062	1.00[AMR][1000 genomes]
rs73034687	1.00[AMR][1000 genomes]
rs73034701	1.00[AMR][1000 genomes]
rs73035376	1.00[AMR][1000 genomes]
rs73035381	1.00[AMR][1000 genomes]
rs73036804	1.00[AMR][1000 genomes]
rs73036820	1.00[AMR][1000 genomes]
rs73036830	1.00[AMR][1000 genomes]
rs73036833	1.00[AMR][1000 genomes]
rs73036856	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73036860	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73041751	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73041774	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73051105	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73051107	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7417281	1.00[AMR][1000 genomes]
rs7534851	0.88[AFR][1000 genomes];1.00[AMR][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	esv10418	chr1:169059628-169621268	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv831871	chr1:169320673-169486680	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv1001454	chr1:169387381-169465274	Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv1005941	chr1:169410486-169456393	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169418600-169429200	Weak transcription	Stomach Mucosa	stomach
2	chr1:169425400-169429800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr1:169426200-169429400	Weak transcription	Fetal Thymus	thymus
4	chr1:169426600-169429600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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