Variant report

Variant	rs57260218
Chromosome Location	chr15:78973772-78973773
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	chr15:78912983..78915101-chr15:78972644..78975199,2	K562	blood:
2	chr15:78970161..78972429-chr15:78973595..78976262,2	K562	blood:

Variant related genes	Relation type
ENSG00000080644	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11072787	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7178423	0.82[ASN][1000 genomes]
rs8032156	0.83[ASN][1000 genomes]
rs8032552	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8043123	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917303	chr15:78491050-79205255	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
2	nsv1045827	chr15:78907656-79004642	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv457208	chr15:78908032-79019610	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv570201	chr15:78908032-79019610	Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv974713	chr15:78945824-78996783	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv457209	chr15:78949127-78986805	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv471256	chr15:78949127-78986805	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv570203	chr15:78949127-78986805	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs57260218	RP11-114H24.5	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78966200-78977000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr15:78969400-78978000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr15:78971400-78975200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr15:78971800-78974600	Weak transcription	Spleen	Spleen
5	chr15:78971800-78975200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr15:78972000-78974400	Weak transcription	Esophagus	oesophagus
7	chr15:78972000-78975200	Enhancers	Fetal Brain Male	brain
8	chr15:78972000-78977400	Weak transcription	HMEC	breast
9	chr15:78972000-78980000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr15:78972400-78975200	Enhancers	Primary hematopoietic stem cells	blood
11	chr15:78972400-78975200	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr15:78972600-78973800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr15:78972600-78975400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr15:78972800-78974000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr15:78972800-78974400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
16	chr15:78972800-78975200	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr15:78972800-78975400	Enhancers	Fetal Brain Female	brain
18	chr15:78972800-78975400	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr15:78972800-78975800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr15:78973000-78973800	Enhancers	Fetal Muscle Leg	muscle
21	chr15:78973000-78974200	Enhancers	H1 Cell Line	embryonic stem cell
22	chr15:78973000-78974800	Enhancers	H9 Cell Line	embryonic stem cell
23	chr15:78973000-78974800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr15:78973200-78974200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr15:78973200-78974800	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr15:78973200-78975000	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr15:78973200-78975400	Enhancers	Fetal Stomach	stomach
28	chr15:78973400-78973800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr15:78973400-78974200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr15:78973400-78974200	Enhancers	Fetal Kidney	kidney
31	chr15:78973400-78974400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr15:78973400-78974400	Enhancers	Fetal Thymus	thymus
33	chr15:78973600-78974200	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr15:78973600-78974400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr15:78973600-78974600	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr15:78973600-78974800	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr15:78973600-78974800	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr15:78973600-78975000	Enhancers	HUES6 Cell Line	embryonic stem cell

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