Variant report

Variant	rs2255086
Chromosome Location	chr1:197654009-197654010
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr1:197652296-197654136	SK-N-SH	brain:	n/a	chr1:197653623-197653637
2	GATA2	chr1:197652388-197654202	SH-SY5Y	brain:	n/a	chr1:197653738-197653745 chr1:197653737-197653747 chr1:197653811-197653823 chr1:197653835-197653842 chr1:197653738-197653747 chr1:197653738-197653745 chr1:197653812-197653822 chr1:197653736-197653748 chr1:197653738-197653745 chr1:197653731-197653752 chr1:197653813-197653822 chr1:197653809-197653825 chr1:197653738-197653747 chr1:197653813-197653822

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:197645784..197649649-chr1:197651122..197654150,3	K562	blood:
2	chr1:197652165..197657690-chr1:197657725..197663370,6	K562	blood:

Variant related genes	Relation type
EEF1A1P32	TF binding region
ENSG00000213046	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10733088	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1472498	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1499594	1.00[AMR][1000 genomes]
rs1499595	1.00[AMR][1000 genomes]
rs1580811	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1747819	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1775455	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2221133	1.00[AMR][1000 genomes]
rs2477062	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2488399	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2488407	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3933162	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4628536	1.00[AMR][1000 genomes]
rs4915247	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4915571	1.00[AMR][1000 genomes]
rs6428414	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs733876	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7518074	1.00[AMR][1000 genomes]
rs942437	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs953508	1.00[AMR][1000 genomes]
rs957939	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873074	chr1:197464448-197698103	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv873075	chr1:197464448-197714851	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv873076	chr1:197529218-197689967	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
4	nsv437263	chr1:197599030-197722240	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv427908	chr1:197611569-197767362	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv873077	chr1:197615391-197698103	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197640800-197657600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr1:197644000-197656000	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr1:197645200-197661000	Weak transcription	Esophagus	oesophagus
4	chr1:197645400-197655600	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr1:197645600-197657400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr1:197647200-197657400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr1:197650000-197654800	Weak transcription	Liver	Liver
8	chr1:197652000-197654800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr1:197652200-197655800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr1:197652600-197657000	Weak transcription	Pancreas	Pancrea
11	chr1:197652800-197657200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:197653000-197665200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr1:197653000-197665400	Weak transcription	Osteobl	bone
14	chr1:197653200-197655000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:197653200-197659400	Weak transcription	Left Ventricle	heart
16	chr1:197653200-197660600	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr1:197653400-197654200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr1:197653400-197654400	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr1:197653400-197654800	Weak transcription	Fetal Lung	lung
20	chr1:197653400-197654800	Weak transcription	Hela-S3	cervix
21	chr1:197653400-197655200	Enhancers	NHEK	skin
22	chr1:197653400-197656200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:197653400-197662000	Weak transcription	Rectal Smooth Muscle	rectum
24	chr1:197653600-197654600	Weak transcription	Fetal Heart	heart
25	chr1:197653600-197656200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr1:197653600-197660600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr1:197653600-197660800	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr1:197654000-197657600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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