Variant report

Variant	rs73766298
Chromosome Location	chr5:80963266-80963267
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	chr5:80961823..80964261-chr5:80965222..80967772,3	K562	blood:
2	chr5:80961632..80964415-chr5:80970591..80972149,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11952518	1.00[AMR][1000 genomes]
rs56171371	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57455684	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57679797	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57695076	1.00[AMR][1000 genomes]
rs60796217	0.85[AMR][1000 genomes]
rs60863858	1.00[AMR][1000 genomes]
rs6452421	0.85[AMR][1000 genomes]
rs6872753	0.85[AMR][1000 genomes]
rs6893327	1.00[AMR][1000 genomes]
rs6897697	0.85[AMR][1000 genomes]
rs73766271	0.85[AMR][1000 genomes]
rs73766289	0.85[AMR][1000 genomes]
rs73766290	0.85[AMR][1000 genomes]
rs73766295	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73766300	0.85[AMR][1000 genomes]
rs73768105	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73768115	1.00[AMR][1000 genomes]
rs73768119	1.00[AMR][1000 genomes]
rs73768120	1.00[AMR][1000 genomes]
rs73768122	0.85[AMR][1000 genomes]
rs73768123	0.85[AMR][1000 genomes]
rs7719738	1.00[AMR][1000 genomes]
rs7728066	1.00[AMR][1000 genomes]
rs7735543	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882233	chr5:80849084-81049187	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv882234	chr5:80853708-80966666	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv525437	chr5:80876359-80964452	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv462222	chr5:80900719-80964452	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv598752	chr5:80900719-80964452	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv882235	chr5:80909132-81006061	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv830361	chr5:80909811-81080409	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	nsv882236	chr5:80930992-80999768	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv527374	chr5:80938095-80964452	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv882237	chr5:80938489-81006061	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv519589	chr5:80959001-80964452	Weak transcription Enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80921200-80983000	Weak transcription	Aorta	Aorta
2	chr5:80924800-80972000	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr5:80938800-80965200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr5:80945600-80985400	Weak transcription	Fetal Kidney	kidney
5	chr5:80946200-80972800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr5:80948000-80971000	Weak transcription	Primary T cells from cord blood	blood
7	chr5:80950200-80975600	Weak transcription	Thymus	Thymus
8	chr5:80951800-80970800	Weak transcription	Primary B cells from cord blood	blood
9	chr5:80953600-80966800	Weak transcription	Fetal Lung	lung
10	chr5:80956800-80970000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr5:80956800-80971800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:80957200-80966800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr5:80960400-80963400	Strong transcription	Dnd41	blood
14	chr5:80960800-80965800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:80961600-80963400	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr5:80961800-80963600	Enhancers	Colon Smooth Muscle	Colon
17	chr5:80962000-80963400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr5:80962000-80965400	Weak transcription	Pancreas	Pancrea
19	chr5:80962000-80965800	Weak transcription	Fetal Brain Female	brain
20	chr5:80962000-80968800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr5:80962000-80971000	Weak transcription	Fetal Thymus	thymus
22	chr5:80962600-80963400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr5:80962600-80963400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr5:80962600-80963600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr5:80962800-80963400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr5:80962800-80963400	Enhancers	Esophagus	oesophagus
27	chr5:80962800-80963400	Enhancers	Left Ventricle	heart
28	chr5:80962800-80964000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr5:80963000-80964000	Enhancers	Small Intestine	intestine
30	chr5:80963200-80964400	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr5:80963200-80965200	Weak transcription	Psoas Muscle	Psoas
32	chr5:80963200-80972200	Weak transcription	Ovary	ovary

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