Variant report

Variant	rs4242366
Chromosome Location	chr8:125769296-125769297
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125760544..125764834-chr8:125765682..125769658,5	MCF-7	breast:
2	chr8:125767375..125769412-chr8:125770640..125772817,3	K562	blood:
3	chr8:125768761..125773057-chr8:125773104..125777533,5	K562	blood:
4	chr8:125768703..125771246-chr8:125774244..125777053,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs13279462	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4871534	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4871539	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4871540	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6986404	0.99[EUR][1000 genomes]
rs7013867	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7823383	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7833381	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7833511	0.99[EUR][1000 genomes]
rs7841287	0.99[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	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1016502	chr8:125657664-125845074	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125761600-125772200	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr8:125764800-125769400	Weak transcription	Primary B cells from peripheral blood	blood
3	chr8:125764800-125773600	Weak transcription	NHDF-Ad	bronchial
4	chr8:125765000-125773600	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr8:125766600-125769600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr8:125767600-125769800	Weak transcription	HSMM	muscle
7	chr8:125767600-125772400	Weak transcription	Osteobl	bone
8	chr8:125767600-125772600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr8:125767800-125770000	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr8:125767800-125770000	Weak transcription	HSMMtube	muscle
11	chr8:125767800-125770400	Weak transcription	Psoas Muscle	Psoas
12	chr8:125767800-125770800	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr8:125767800-125772000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr8:125767800-125772400	Weak transcription	Fetal Heart	heart
15	chr8:125767800-125772600	Weak transcription	Pancreas	Pancrea
16	chr8:125769000-125769400	Enhancers	GM12878-XiMat	blood
17	chr8:125769200-125769800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
18	chr8:125769200-125770400	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr8:125769200-125770400	Enhancers	Fetal Thymus	thymus
20	chr8:125769200-125770600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr8:125769200-125770800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
22	chr8:125769200-125770800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr8:125769200-125771000	Enhancers	Primary B cells from cord blood	blood

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