Variant report

Variant	rs17134328
Chromosome Location	chr5:111640083-111640084
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	chr5:111638084..111640308-chr5:111646622..111650517,3	K562	blood:

Extended variants
information (count: 112 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:104)

rs_ID	r²[population]
rs10036273	1.00[EUR][1000 genomes]
rs10039730	1.00[EUR][1000 genomes]
rs10060534	1.00[EUR][1000 genomes]
rs10060962	1.00[EUR][1000 genomes]
rs10068969	1.00[EUR][1000 genomes]
rs10515444	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10515447	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs12109843	1.00[EUR][1000 genomes]
rs13354202	1.00[EUR][1000 genomes]
rs1524423	1.00[EUR][1000 genomes]
rs1524426	0.83[YRI][hapmap]
rs17134229	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs17134238	1.00[EUR][1000 genomes]
rs17134242	1.00[EUR][1000 genomes]
rs17134245	1.00[TSI][hapmap]
rs17134320	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17134339	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17134370	1.00[EUR][1000 genomes]
rs17134418	1.00[EUR][1000 genomes]
rs17134478	1.00[EUR][1000 genomes]
rs17134479	1.00[EUR][1000 genomes]
rs17134502	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs17134556	1.00[EUR][1000 genomes]
rs17134559	1.00[EUR][1000 genomes]
rs17134564	1.00[EUR][1000 genomes]
rs17134566	1.00[EUR][1000 genomes]
rs17134569	1.00[EUR][1000 genomes]
rs17134595	1.00[EUR][1000 genomes]
rs2140623	1.00[TSI][hapmap]
rs2140624	0.81[YRI][hapmap];1.00[EUR][1000 genomes]
rs2416285	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs28851506	1.00[EUR][1000 genomes]
rs2900063	1.00[EUR][1000 genomes]
rs35368801	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3903144	1.00[EUR][1000 genomes]
rs3985058	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs4090543	1.00[EUR][1000 genomes]
rs4130531	1.00[EUR][1000 genomes]
rs57449938	1.00[EUR][1000 genomes]
rs57536989	1.00[EUR][1000 genomes]
rs59413146	1.00[EUR][1000 genomes]
rs59723280	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59728660	1.00[EUR][1000 genomes]
rs59911735	1.00[EUR][1000 genomes]
rs60901135	1.00[EUR][1000 genomes]
rs61620009	1.00[EUR][1000 genomes]
rs6594594	1.00[EUR][1000 genomes]
rs6594596	1.00[EUR][1000 genomes]
rs6861534	1.00[EUR][1000 genomes]
rs6865127	1.00[EUR][1000 genomes]
rs6865907	1.00[EUR][1000 genomes]
rs6866068	1.00[EUR][1000 genomes]
rs6875983	1.00[EUR][1000 genomes]
rs6878092	1.00[EUR][1000 genomes]
rs721054	1.00[EUR][1000 genomes]
rs721055	1.00[EUR][1000 genomes]
rs73214232	1.00[EUR][1000 genomes]
rs73214236	1.00[EUR][1000 genomes]
rs73214243	1.00[EUR][1000 genomes]
rs73214250	1.00[EUR][1000 genomes]
rs73214252	1.00[EUR][1000 genomes]
rs73214255	1.00[EUR][1000 genomes]
rs73214261	1.00[EUR][1000 genomes]
rs73214264	1.00[EUR][1000 genomes]
rs73214269	1.00[EUR][1000 genomes]
rs73214270	1.00[EUR][1000 genomes]
rs73214274	1.00[EUR][1000 genomes]
rs73216591	1.00[EUR][1000 genomes]
rs73216602	1.00[EUR][1000 genomes]
rs73218303	1.00[EUR][1000 genomes]
rs73218309	1.00[EUR][1000 genomes]
rs73218315	1.00[EUR][1000 genomes]
rs73218319	1.00[EUR][1000 genomes]
rs73218335	1.00[EUR][1000 genomes]
rs73218339	1.00[EUR][1000 genomes]
rs73218340	1.00[EUR][1000 genomes]
rs73218345	1.00[EUR][1000 genomes]
rs73218347	1.00[EUR][1000 genomes]
rs73218348	1.00[EUR][1000 genomes]
rs73218349	1.00[EUR][1000 genomes]
rs73220307	1.00[EUR][1000 genomes]
rs73220310	1.00[EUR][1000 genomes]
rs73220313	1.00[EUR][1000 genomes]
rs73222143	1.00[EUR][1000 genomes]
rs73222145	1.00[EUR][1000 genomes]
rs73222146	1.00[EUR][1000 genomes]
rs73222148	1.00[EUR][1000 genomes]
rs73222150	1.00[EUR][1000 genomes]
rs73222155	1.00[EUR][1000 genomes]
rs73787780	1.00[EUR][1000 genomes]
rs7446816	1.00[EUR][1000 genomes]
rs7702999	1.00[EUR][1000 genomes]
rs7707028	1.00[EUR][1000 genomes]
rs7710041	1.00[EUR][1000 genomes]
rs7733415	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs821737	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs821740	1.00[EUR][1000 genomes]
rs821741	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs821742	0.88[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs821743	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs821744	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs866597	1.00[EUR][1000 genomes]
rs956273	1.00[EUR][1000 genomes]
rs986797	1.00[TSI][hapmap];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015302	chr5:111339022-111802947	Enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv537861	chr5:111339022-111802947	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv948869	chr5:111476404-111695183	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv531291	chr5:111497440-111756788	Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv599371	chr5:111519018-111676755	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv1021530	chr5:111626266-111683317	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1028181	chr5:111628901-111683317	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111635600-111651800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr5:111636400-111640400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:111637000-111642200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr5:111637400-111684600	Weak transcription	Aorta	Aorta
5	chr5:111638600-111643800	Enhancers	Fetal Heart	heart
6	chr5:111639400-111640200	Enhancers	Psoas Muscle	Psoas
7	chr5:111639800-111641400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr5:111639800-111652400	Weak transcription	Left Ventricle	heart
9	chr5:111640000-111640200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:111640000-111642000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr5:111640000-111643600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:111640000-111645600	Weak transcription	Right Atrium	heart

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