Variant report

Variant	rs73218303
Chromosome Location	chr5:111743915-111743916
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:111738869..111741443-chr5:111742912..111745880,2	K562	blood:

Extended variants
information (count: 103 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:98)

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[EUR][1000 genomes]
rs10515447	1.00[EUR][1000 genomes]
rs12109843	1.00[EUR][1000 genomes]
rs13354202	1.00[EUR][1000 genomes]
rs1524423	1.00[EUR][1000 genomes]
rs17134320	1.00[EUR][1000 genomes]
rs17134328	1.00[EUR][1000 genomes]
rs17134339	1.00[EUR][1000 genomes]
rs17134370	1.00[EUR][1000 genomes]
rs17134418	1.00[EUR][1000 genomes]
rs17134475	0.85[AFR][1000 genomes]
rs17134478	1.00[EUR][1000 genomes]
rs17134479	1.00[EUR][1000 genomes]
rs17134502	1.00[EUR][1000 genomes]
rs17134556	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17134559	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17134564	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17134566	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17134569	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17134595	1.00[EUR][1000 genomes]
rs17134619	1.00[EUR][1000 genomes]
rs17134621	1.00[EUR][1000 genomes]
rs2140624	1.00[EUR][1000 genomes]
rs2416285	1.00[EUR][1000 genomes]
rs28851506	1.00[EUR][1000 genomes]
rs2900063	1.00[EUR][1000 genomes]
rs35368801	1.00[EUR][1000 genomes]
rs3903144	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3985058	1.00[EUR][1000 genomes]
rs4090543	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4130531	1.00[EUR][1000 genomes]
rs57536989	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59413146	1.00[EUR][1000 genomes]
rs59723280	1.00[EUR][1000 genomes]
rs59728660	1.00[EUR][1000 genomes]
rs59911735	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60901135	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];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]
rs6878092	1.00[EUR][1000 genomes]
rs721054	1.00[EUR][1000 genomes]
rs721055	1.00[EUR][1000 genomes]
rs73214232	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];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[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73214270	1.00[EUR][1000 genomes]
rs73214274	1.00[EUR][1000 genomes]
rs73216591	1.00[EUR][1000 genomes]
rs73216602	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73218309	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73218315	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73218319	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73218335	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73218339	1.00[EUR][1000 genomes]
rs73218340	1.00[EUR][1000 genomes]
rs73218345	1.00[AMR][1000 genomes];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[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73220313	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73222143	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73222145	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73222146	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73222148	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73222150	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73222155	1.00[EUR][1000 genomes]
rs73222163	1.00[EUR][1000 genomes]
rs73222167	1.00[EUR][1000 genomes]
rs7446816	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];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[EUR][1000 genomes]
rs821737	1.00[EUR][1000 genomes]
rs821740	1.00[EUR][1000 genomes]
rs821741	1.00[EUR][1000 genomes]
rs821742	1.00[EUR][1000 genomes]
rs821743	1.00[EUR][1000 genomes]
rs866597	1.00[EUR][1000 genomes]
rs956273	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs986797	1.00[AMR][1000 genomes];1.00[EUR][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	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	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
5	nsv882714	chr5:111655382-111807579	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111709200-111745400	Weak transcription	Esophagus	oesophagus
2	chr5:111728800-111753600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr5:111730400-111753800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr5:111732000-111753400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr5:111732600-111747600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:111732600-111749200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr5:111734200-111753200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr5:111736000-111747400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr5:111736000-111752400	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr5:111738400-111752400	Weak transcription	Fetal Brain Female	brain
11	chr5:111740400-111751400	Weak transcription	Ovary	ovary
12	chr5:111742800-111744200	Enhancers	Fetal Heart	heart
13	chr5:111742800-111744200	Enhancers	Hela-S3	cervix
14	chr5:111742800-111745400	Weak transcription	Spleen	Spleen
15	chr5:111742800-111745600	Weak transcription	Gastric	stomach
16	chr5:111742800-111745600	Weak transcription	Lung	lung
17	chr5:111742800-111746400	Weak transcription	Left Ventricle	heart
18	chr5:111742800-111747400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr5:111743000-111747600	Weak transcription	Fetal Kidney	kidney
20	chr5:111743200-111745800	Weak transcription	Right Ventricle	heart
21	chr5:111743200-111746800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:111743200-111747400	Weak transcription	Pancreas	Pancrea
23	chr5:111743200-111747400	Weak transcription	Right Atrium	heart
24	chr5:111743200-111747600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr5:111743200-111747600	Weak transcription	Adipose Nuclei	Adipose
26	chr5:111743200-111747800	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr5:111743200-111753400	Weak transcription	Placenta	Placenta
28	chr5:111743400-111747400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr5:111743600-111745000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr5:111743600-111746200	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr5:111743600-111747200	Weak transcription	HUVEC	blood vessel
32	chr5:111743600-111747600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr5:111743600-111747800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr5:111743600-111747800	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr5:111743600-111749200	Weak transcription	Aorta	Aorta
36	chr5:111743600-111753400	Weak transcription	Brain Substantia Nigra	brain
37	chr5:111743800-111747400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr5:111743800-111747600	Weak transcription	Fetal Lung	lung

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