Variant report

Variant	rs10941581
Chromosome Location	chr5:42588529-42588530
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	chr5:42581855..42585774-chr5:42587574..42590469,5	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11954102	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13162596	0.80[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs35227546	1.00[ASN][1000 genomes]
rs35703418	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4283797	1.00[ASN][1000 genomes]
rs4330467	1.00[ASN][1000 genomes]
rs59463904	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6870809	1.00[ASN][1000 genomes]
rs6887528	1.00[ASN][1000 genomes]
rs72754922	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72754935	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72754947	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72754950	1.00[ASN][1000 genomes]
rs73087462	1.00[ASN][1000 genomes]
rs7700564	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933208	chr5:41879946-42876624	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases
2	nsv492147	chr5:41902086-42896162	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	113 gene(s)	inside rSNPs	diseases
3	nsv1020464	chr5:42488628-42699394	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1018751	chr5:42491883-42697923	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42583000-42590800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr5:42583200-42591000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr5:42583200-42591200	Weak transcription	Lung	lung
4	chr5:42583200-42591200	Weak transcription	Spleen	Spleen
5	chr5:42583400-42590000	Weak transcription	Right Ventricle	heart
6	chr5:42583800-42591200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr5:42586400-42588600	Flanking Active TSS	K562	blood
8	chr5:42587600-42590000	Weak transcription	HSMMtube	muscle
9	chr5:42587800-42588600	Enhancers	Left Ventricle	heart
10	chr5:42587800-42588600	Enhancers	Ovary	ovary
11	chr5:42587800-42588600	Enhancers	Psoas Muscle	Psoas
12	chr5:42588000-42590000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr5:42588000-42590600	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr5:42588000-42590600	Enhancers	Fetal Heart	heart
15	chr5:42588000-42590600	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr5:42588200-42589800	Weak transcription	Liver	Liver
17	chr5:42588200-42590000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr5:42588200-42590000	Weak transcription	Colon Smooth Muscle	Colon
19	chr5:42588200-42590000	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr5:42588200-42590000	Weak transcription	Stomach Smooth Muscle	stomach
21	chr5:42588200-42590400	Weak transcription	Fetal Lung	lung
22	chr5:42588200-42590600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr5:42588200-42590600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr5:42588200-42590600	Weak transcription	Fetal Stomach	stomach
25	chr5:42588200-42590800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr5:42588200-42590800	Weak transcription	Aorta	Aorta
27	chr5:42588400-42589800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr5:42588400-42589800	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr5:42588400-42590000	Weak transcription	Right Atrium	heart
30	chr5:42588400-42590600	Weak transcription	Adipose Nuclei	Adipose
31	chr5:42588400-42590600	Weak transcription	Fetal Muscle Leg	muscle
32	chr5:42588400-42590800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr5:42588400-42591200	Weak transcription	Esophagus	oesophagus
34	chr5:42588400-42591400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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