Variant report

Variant	rs73766146
Chromosome Location	chr5:80282973-80282974
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	chr5:80280624..80283430-chr5:80318817..80321662,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs13340388	1.00[EUR][1000 genomes]
rs13361744	1.00[EUR][1000 genomes]
rs34039392	1.00[EUR][1000 genomes]
rs56157507	1.00[EUR][1000 genomes]
rs58071944	1.00[EUR][1000 genomes]
rs59441376	1.00[EUR][1000 genomes]
rs59626246	1.00[EUR][1000 genomes]
rs60064859	1.00[EUR][1000 genomes]
rs61194622	1.00[EUR][1000 genomes]
rs61629530	1.00[EUR][1000 genomes]
rs6870928	1.00[EUR][1000 genomes]
rs73128867	1.00[EUR][1000 genomes]
rs73766153	1.00[EUR][1000 genomes]
rs73766159	1.00[EUR][1000 genomes]
rs73766199	1.00[EUR][1000 genomes]
rs73768003	1.00[EUR][1000 genomes]
rs9293834	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	nsv1024844	chr5:79862428-80860430	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv598747	chr5:79996632-80322712	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1021784	chr5:80023679-80313586	ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv537787	chr5:80023679-80313586	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv830358	chr5:80197105-80358920	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80269800-80285800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:80270000-80284200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr5:80273200-80283000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr5:80275400-80283000	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr5:80277600-80287000	Weak transcription	Right Ventricle	heart
6	chr5:80278000-80293000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr5:80280200-80284000	Weak transcription	Spleen	Spleen
8	chr5:80281000-80284600	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr5:80281200-80284400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr5:80281200-80284600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr5:80281400-80283000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr5:80281400-80283000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr5:80281400-80283800	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr5:80281400-80284000	Enhancers	HepG2	liver
15	chr5:80281400-80284800	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr5:80281400-80284800	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr5:80281400-80285400	Enhancers	Primary T cells from cord blood	blood
18	chr5:80281400-80290800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr5:80281400-80290800	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr5:80281600-80283000	Enhancers	Adipose Nuclei	Adipose
21	chr5:80281600-80283200	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr5:80281600-80286000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr5:80281600-80286800	Enhancers	Brain Substantia Nigra	brain
24	chr5:80282000-80283200	Enhancers	Fetal Intestine Large	intestine
25	chr5:80282000-80283400	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr5:80282000-80284400	Enhancers	Brain Hippocampus Middle	brain
27	chr5:80282000-80287400	Enhancers	Brain Cingulate Gyrus	brain
28	chr5:80282200-80283000	Weak transcription	Left Ventricle	heart
29	chr5:80282200-80283600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr5:80282400-80283200	Enhancers	Brain Anterior Caudate	brain
31	chr5:80282400-80283400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr5:80282400-80284200	Enhancers	H9 Cell Line	embryonic stem cell
33	chr5:80282400-80285800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr5:80282400-80286800	Enhancers	Brain Angular Gyrus	brain
35	chr5:80282600-80284400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr5:80282600-80286400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr5:80282600-80286600	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr5:80282800-80284200	Enhancers	Right Atrium	heart
39	chr5:80282800-80284400	Enhancers	Primary T cells fromperipheralblood	blood

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