Variant report

Variant	rs5027730
Chromosome Location	chr6:114238658-114238659
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:114234076..114236200-chr6:114237531..114240425,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1407459	0.84[ASN][1000 genomes]
rs2475631	0.85[ASN][1000 genomes]
rs2499618	0.84[ASN][1000 genomes]
rs2998738	0.86[ASN][1000 genomes]
rs352062	0.87[ASN][1000 genomes]
rs352063	0.85[ASN][1000 genomes]
rs352066	0.88[ASN][1000 genomes]
rs352067	0.88[ASN][1000 genomes]
rs352093	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs471759	0.84[ASN][1000 genomes]
rs498519	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs509827	0.83[ASN][1000 genomes]
rs515027	0.84[ASN][1000 genomes]
rs515049	0.84[ASN][1000 genomes]
rs530433	0.84[ASN][1000 genomes]
rs534163	0.84[ASN][1000 genomes]
rs534169	0.84[ASN][1000 genomes]
rs541691	0.86[ASN][1000 genomes]
rs541824	0.86[ASN][1000 genomes]
rs543139	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs549348	0.86[ASN][1000 genomes]
rs562296	0.86[ASN][1000 genomes]
rs576924	0.86[ASN][1000 genomes]
rs577474	0.86[ASN][1000 genomes]
rs577580	0.86[ASN][1000 genomes]
rs580305	0.85[ASN][1000 genomes]
rs580425	0.85[ASN][1000 genomes]
rs9398369	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021774	chr6:114063971-114407280	Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv538422	chr6:114063971-114407280	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	esv3363275	chr6:114101331-114302866	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv830779	chr6:114206534-114246099	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv3432338	chr6:114237709-114239857	Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:114226200-114242000	Weak transcription	Fetal Muscle Leg	muscle
2	chr6:114226600-114246000	Weak transcription	Fetal Stomach	stomach
3	chr6:114226800-114240400	Weak transcription	Left Ventricle	heart

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