Variant report

Variant	rs57793854
Chromosome Location	chr5:60559844-60559845
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:60456708..60458931-chr5:60559806..60562109,2	MCF-7	breast:
2	chr5:60548575..60550984-chr5:60558808..60560811,2	K562	blood:

Variant related genes	Relation type
ENSG00000249279	Chromatin interaction
ENSG00000251279	Chromatin interaction
ENSG00000188725	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10042872	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10044874	0.97[ASN][1000 genomes]
rs36198109	1.00[ASN][1000 genomes]
rs58939856	1.00[ASN][1000 genomes]
rs60201766	0.81[AFR][1000 genomes]
rs6882613	0.88[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs6885308	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73103614	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7708674	1.00[ASN][1000 genomes]
rs9291714	0.97[ASN][1000 genomes]
rs9291715	0.97[ASN][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	nsv1034038	chr5:60375328-60607654	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv1028884	chr5:60414723-60732779	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60550400-60573400	Weak transcription	Gastric	stomach
2	chr5:60556000-60570200	Weak transcription	HSMM	muscle
3	chr5:60558000-60566400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:60558200-60560600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:60558600-60560000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:60559000-60560000	Enhancers	Brain Angular Gyrus	brain
7	chr5:60559000-60560200	Enhancers	Brain Cingulate Gyrus	brain
8	chr5:60559000-60560800	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr5:60559400-60560400	Flanking Active TSS	HUVEC	blood vessel
10	chr5:60559400-60560600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr5:60559400-60560800	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr5:60559400-60562000	Enhancers	Stomach Mucosa	stomach
13	chr5:60559600-60560000	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr5:60559600-60560000	Enhancers	Primary hematopoietic stem cells	blood
15	chr5:60559600-60560000	Flanking Active TSS	Brain Substantia Nigra	brain
16	chr5:60559600-60560000	Active TSS	Duodenum Mucosa	Duodenum
17	chr5:60559600-60560000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
18	chr5:60559600-60560000	Enhancers	Fetal Heart	heart
19	chr5:60559600-60560000	Enhancers	Fetal Muscle Leg	muscle
20	chr5:60559600-60560000	Enhancers	Spleen	Spleen
21	chr5:60559600-60560200	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr5:60559600-60560200	Flanking Active TSS	Brain Anterior Caudate	brain
23	chr5:60559600-60560400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr5:60559600-60560600	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr5:60559600-60560600	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr5:60559600-60560600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr5:60559600-60560600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr5:60559600-60560600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr5:60559600-60560800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr5:60559800-60560000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr5:60559800-60560000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
32	chr5:60559800-60560200	Flanking Active TSS	Brain Hippocampus Middle	brain
33	chr5:60559800-60560200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr5:60559800-60560200	Enhancers	Fetal Lung	lung
35	chr5:60559800-60560800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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