Variant report

Variant	rs3114042
Chromosome Location	chr4:127513077-127513078
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	chr4:127511679..127513195-chr4:127518243..127521048,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10002417	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1355405	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs192856	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2102544	0.95[AFR][1000 genomes]
rs2202824	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3103670	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3103671	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3103672	1.00[EUR][1000 genomes]
rs3114043	1.00[EUR][1000 genomes]
rs313051	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs313052	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs313053	0.85[AMR][1000 genomes]
rs313062	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs313089	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs313090	0.95[YRI][hapmap];0.80[AFR][1000 genomes]
rs313091	1.00[EUR][1000 genomes]
rs313104	0.91[YRI][hapmap]
rs313106	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs313126	1.00[EUR][1000 genomes]
rs313127	1.00[EUR][1000 genomes]
rs313141	1.00[EUR][1000 genomes]
rs313143	1.00[EUR][1000 genomes]
rs313145	1.00[EUR][1000 genomes]
rs368317	1.00[EUR][1000 genomes]
rs378245	1.00[EUR][1000 genomes]
rs404298	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs425619	1.00[EUR][1000 genomes]
rs426134	1.00[EUR][1000 genomes]
rs4293799	0.90[AFR][1000 genomes]
rs434214	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs439910	1.00[EUR][1000 genomes]
rs992182	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][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	nsv1012833	chr4:127468474-127760933	Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv537242	chr4:127468474-127760933	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv524850	chr4:127470903-127768849	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1013854	chr4:127508969-127663216	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:127504200-127516200	Weak transcription	K562	blood
2	chr4:127512600-127513400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr4:127512600-127513400	Enhancers	Muscle Satellite Cultured Cells	--
4	chr4:127512600-127513400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr4:127513000-127513400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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