Variant report

Variant	rs73468680
Chromosome Location	chr11:56988805-56988806
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:56982363..56983864-chr11:56987113..56989576,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs56043520	1.00[EUR][1000 genomes]
rs56291203	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56332254	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56410703	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56808298	1.00[EUR][1000 genomes]
rs56825823	1.00[EUR][1000 genomes]
rs57230372	0.85[AMR][1000 genomes]
rs57437126	1.00[EUR][1000 genomes]
rs57500725	1.00[EUR][1000 genomes]
rs57570811	1.00[EUR][1000 genomes]
rs58810319	1.00[EUR][1000 genomes]
rs59231801	1.00[EUR][1000 genomes]
rs59267531	1.00[EUR][1000 genomes]
rs60196378	1.00[EUR][1000 genomes]
rs60651361	1.00[EUR][1000 genomes]
rs61427216	1.00[EUR][1000 genomes]
rs675913	1.00[EUR][1000 genomes]
rs7103566	1.00[EUR][1000 genomes]
rs7124204	1.00[EUR][1000 genomes]
rs7125852	1.00[EUR][1000 genomes]
rs73468618	1.00[EUR][1000 genomes]
rs73468621	1.00[EUR][1000 genomes]
rs73468629	1.00[EUR][1000 genomes]
rs73468634	1.00[EUR][1000 genomes]
rs73468648	1.00[EUR][1000 genomes]
rs73468666	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73468671	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73468672	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73468675	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73468679	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73470503	1.00[EUR][1000 genomes]
rs73470550	1.00[EUR][1000 genomes]
rs7946444	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915640	chr11:56814841-57139786	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv482317	chr11:56857026-57028631	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:56982000-56989200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:56982600-56989600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:56982600-56991000	Weak transcription	Osteobl	bone
4	chr11:56982600-56991800	Weak transcription	NHDF-Ad	bronchial
5	chr11:56983000-56989600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr11:56984800-56991000	Weak transcription	HSMMtube	muscle
7	chr11:56984800-56991200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr11:56985000-56989400	Weak transcription	HUVEC	blood vessel
9	chr11:56986800-56989200	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr11:56987000-56991400	Weak transcription	Brain Anterior Caudate	brain
11	chr11:56987200-56989200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr11:56987200-56989200	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr11:56987200-56989600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr11:56987200-56991200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr11:56987200-56991400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr11:56987200-56995200	Weak transcription	Left Ventricle	heart
17	chr11:56987400-56989600	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr11:56987600-56990200	Weak transcription	Fetal Muscle Leg	muscle
19	chr11:56987600-57000800	Weak transcription	Spleen	Spleen
20	chr11:56988600-56992400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr11:56988600-56992400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr11:56988600-56992800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:56988800-56989000	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr11:56988800-56989600	Enhancers	Adipose Nuclei	Adipose

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