Variant report

Variant	rs4270981
Chromosome Location	chr8:20234649-20234650
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	chr8:20088116..20090278-chr8:20233803..20235473,2	K562	blood:

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs1038465	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10503678	0.82[AMR][1000 genomes]
rs11204110	0.81[AMR][1000 genomes]
rs11204111	0.89[AFR][1000 genomes]
rs12541135	0.80[AMR][1000 genomes]
rs12541289	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12542760	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12543131	0.82[AMR][1000 genomes]
rs12543855	0.82[AMR][1000 genomes]
rs12544394	0.82[AMR][1000 genomes]
rs12544659	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12550451	0.80[AMR][1000 genomes]
rs12679658	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12681832	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs13248765	0.82[AMR][1000 genomes]
rs13249689	0.80[AMR][1000 genomes]
rs13256064	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13276179	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13278066	0.82[AMR][1000 genomes]
rs13278974	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1484800	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2062347	0.81[AMR][1000 genomes]
rs2062348	0.82[AMR][1000 genomes]
rs2410643	0.81[AMR][1000 genomes]
rs34324466	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34368954	0.82[AMR][1000 genomes]
rs34393111	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs35102761	0.82[AMR][1000 genomes]
rs35267049	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs35851624	0.82[AMR][1000 genomes]
rs35946940	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4269558	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs4376510	0.80[AMR][1000 genomes]
rs4397421	0.81[AMR][1000 genomes]
rs4397422	0.81[AMR][1000 genomes]
rs4442161	0.97[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs4451325	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4493920	0.82[AMR][1000 genomes]
rs4922167	0.82[AMR][1000 genomes]
rs4922168	0.82[AMR][1000 genomes]
rs4922169	0.80[AMR][1000 genomes]
rs4922170	0.81[AMR][1000 genomes]
rs4922171	0.82[AMR][1000 genomes]
rs4922172	0.82[AMR][1000 genomes]
rs4922176	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs57307831	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs57421611	0.82[AMR][1000 genomes]
rs58488103	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs66866121	0.82[AMR][1000 genomes]
rs754455	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs900955	0.81[AMR][1000 genomes]
rs900956	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9325868	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9650601	0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033511	chr8:19751299-20625091	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv530877	chr8:19873053-20593254	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv831256	chr8:20162233-20300224	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv2758152	chr8:20228949-20514807	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv2759603	chr8:20228949-20514807	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20231400-20234800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:20232000-20234800	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr8:20232000-20235600	Weak transcription	HMEC	breast
4	chr8:20232400-20236000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr8:20232400-20236600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:20232400-20242600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:20232800-20234800	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr8:20233000-20234800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr8:20233000-20236600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr8:20233200-20234800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr8:20233200-20234800	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr8:20233200-20234800	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr8:20233200-20235000	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr8:20233200-20239000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr8:20233400-20235000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr8:20233400-20238400	Enhancers	HSMM	muscle
17	chr8:20234000-20234800	Enhancers	H9 Cell Line	embryonic stem cell
18	chr8:20234000-20234800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr8:20234000-20234800	Enhancers	HSMMtube	muscle
20	chr8:20234000-20234800	Enhancers	NHLF	lung
21	chr8:20234000-20236800	Enhancers	Muscle Satellite Cultured Cells	--
22	chr8:20234000-20237000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr8:20234200-20235600	Weak transcription	Osteobl	bone
24	chr8:20234200-20235800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr8:20234200-20235800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr8:20234200-20235800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr8:20234200-20235800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr8:20234200-20236000	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr8:20234200-20239000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr8:20234200-20239400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr8:20234400-20235600	Weak transcription	NH-A	brain
32	chr8:20234400-20236200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr8:20234400-20236600	Weak transcription	NHDF-Ad	bronchial

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