Variant report

Variant	rs60652599
Chromosome Location	chr8:126391213-126391214
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	chr8:126391119..126393618-chr8:126395022..126397110,2	MCF-7	breast:
2	chr8:126390371..126392922-chr8:126442383..126443996,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000173334	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs17318327	0.92[ASN][1000 genomes]
rs17403341	0.92[ASN][1000 genomes]
rs4006653	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58650877	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6651234	1.00[ASN][1000 genomes]
rs6651235	1.00[ASN][1000 genomes]
rs6651236	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6651237	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7004876	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73336867	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73338880	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73338881	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73338901	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7824635	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3410448	chr8:126339813-126418053	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr8:126382200-126394200	Weak transcription	Thymus	Thymus
2	chr8:126382400-126396800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:126384200-126396000	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr8:126384200-126400200	Weak transcription	NHLF	lung
5	chr8:126390000-126398400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr8:126391000-126391400	Enhancers	H1 Cell Line	embryonic stem cell
7	chr8:126391000-126391400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr8:126391000-126391400	Enhancers	K562	blood
9	chr8:126391000-126391600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr8:126391000-126391600	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr8:126391000-126391600	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr8:126391000-126391600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr8:126391000-126391600	Enhancers	HepG2	liver
14	chr8:126391000-126391800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr8:126391000-126391800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr8:126391000-126391800	Enhancers	A549	lung
17	chr8:126391000-126392000	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr8:126391000-126392000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr8:126391000-126392000	Enhancers	HMEC	breast
20	chr8:126391000-126392600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr8:126391000-126392600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr8:126391000-126392800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr8:126391000-126392800	Enhancers	Hela-S3	cervix
24	chr8:126391000-126392800	Enhancers	NH-A	brain
25	chr8:126391000-126392800	Enhancers	NHEK	skin
26	chr8:126391200-126391400	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr8:126391200-126391400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr8:126391200-126391600	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr8:126391200-126391600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr8:126391200-126391600	Enhancers	Fetal Thymus	thymus
31	chr8:126391200-126391600	Enhancers	Placenta Amnion	Placenta Amnion
32	chr8:126391200-126392800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr8:126391200-126393200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr8:126391200-126395000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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