Variant report

Variant	rs60901135
Chromosome Location	chr5:111753278-111753279
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	chr5:111505441..111507205-chr5:111752251..111753989,2	K562	blood:
2	chr5:111701962..111704282-chr5:111752364..111755005,2	MCF-7	breast:

Extended variants
information (count: 102 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:97)

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	0.81[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]
rs59723280	1.00[EUR][1000 genomes]
rs59728660	1.00[EUR][1000 genomes]
rs59911735	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	0.81[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	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73218303	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73218309	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73218315	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73218319	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73218335	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73218339	1.00[EUR][1000 genomes]
rs73218340	1.00[EUR][1000 genomes]
rs73218345	0.81[AFR][1000 genomes];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	0.81[AFR][1000 genomes];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	0.93[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:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111728800-111753600	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr5:111730400-111753800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:111732000-111753400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr5:111743200-111753400	Weak transcription	Placenta	Placenta
5	chr5:111743600-111753400	Weak transcription	Brain Substantia Nigra	brain
6	chr5:111746200-111753400	Weak transcription	Right Ventricle	heart
7	chr5:111746600-111753800	Weak transcription	Spleen	Spleen
8	chr5:111748000-111753600	Weak transcription	Pancreas	Pancrea
9	chr5:111748000-111754200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr5:111748200-111753400	Weak transcription	Fetal Lung	lung
11	chr5:111748600-111753600	Weak transcription	Left Ventricle	heart
12	chr5:111749400-111753400	Weak transcription	Fetal Kidney	kidney
13	chr5:111749400-111753600	Weak transcription	Lung	lung
14	chr5:111749600-111753600	Weak transcription	Esophagus	oesophagus
15	chr5:111749600-111753600	Weak transcription	Gastric	stomach
16	chr5:111749600-111753600	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr5:111749800-111753400	Weak transcription	NHEK	skin
18	chr5:111749800-111753600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr5:111750400-111753400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr5:111751600-111753400	Weak transcription	Ovary	ovary
21	chr5:111752200-111753600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr5:111752400-111753400	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr5:111752400-111754000	Active TSS	Fetal Brain Female	brain
24	chr5:111752600-111753400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:111752600-111753400	Active TSS	Adipose Nuclei	Adipose
26	chr5:111752600-111753400	Weak transcription	Brain Anterior Caudate	brain
27	chr5:111752600-111753400	Enhancers	Hela-S3	cervix
28	chr5:111752600-111753600	Enhancers	Brain Germinal Matrix	brain
29	chr5:111752800-111754200	Flanking Active TSS	Fetal Brain Male	brain
30	chr5:111752800-111755200	Active TSS	Psoas Muscle	Psoas
31	chr5:111752800-111756200	Active TSS	Right Atrium	heart
32	chr5:111752800-111756400	Active TSS	Aorta	Aorta
33	chr5:111753000-111753400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr5:111753000-111753600	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr5:111753000-111753600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr5:111753000-111754400	Flanking Active TSS	HUVEC	blood vessel
37	chr5:111753000-111756400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr5:111753000-111756600	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr5:111753200-111753400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
40	chr5:111753200-111753400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr5:111753200-111753400	Enhancers	Brain Hippocampus Middle	brain
42	chr5:111753200-111756400	Active TSS	Fetal Heart	heart

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