Variant report

Variant	rs28434099
Chromosome Location	chr4:148513120-148513121
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:148511550..148513191-chr4:148525701..148528628,2	K562	blood:
2	chr4:148512401..148515389-chr4:148519840..148522071,2	K562	blood:
3	chr4:148439062..148441461-chr4:148511763..148514115,2	MCF-7	breast:

Extended variants
information (count: 50 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10006729	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10025254	0.83[EUR][1000 genomes]
rs10049595	0.80[EUR][1000 genomes]
rs10049817	0.80[EUR][1000 genomes]
rs10434124	0.80[EUR][1000 genomes]
rs10434125	0.80[EUR][1000 genomes]
rs11099659	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11099661	0.82[EUR][1000 genomes]
rs11722231	0.80[EUR][1000 genomes]
rs11723296	0.80[EUR][1000 genomes]
rs11723354	0.80[EUR][1000 genomes]
rs11724387	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11729128	0.80[EUR][1000 genomes]
rs11731451	0.80[EUR][1000 genomes]
rs11735245	0.83[EUR][1000 genomes]
rs11737524	0.80[EUR][1000 genomes]
rs12640053	0.83[EUR][1000 genomes]
rs28485045	0.80[EUR][1000 genomes]
rs28558982	0.80[EUR][1000 genomes]
rs4835088	0.82[EUR][1000 genomes]
rs4835089	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4835427	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4835428	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4835430	0.80[EUR][1000 genomes]
rs4835431	0.80[EUR][1000 genomes]
rs4835432	0.80[EUR][1000 genomes]
rs4835433	0.80[EUR][1000 genomes]
rs4835434	0.80[EUR][1000 genomes]
rs4835435	0.80[EUR][1000 genomes]
rs4835436	0.80[EUR][1000 genomes]
rs6535545	0.83[EUR][1000 genomes]
rs6811966	0.81[EUR][1000 genomes]
rs6816419	0.80[EUR][1000 genomes]
rs6816928	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6823363	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6824051	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6836543	0.83[EUR][1000 genomes]
rs6841995	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6849644	0.80[EUR][1000 genomes]
rs6849966	0.80[EUR][1000 genomes]
rs6850429	0.80[EUR][1000 genomes]
rs6852226	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6855155	0.82[EUR][1000 genomes]
rs6857300	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6857312	0.81[EUR][1000 genomes]
rs6857532	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9998608	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028958	chr4:148377752-148793485	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv830110	chr4:148432125-148595119	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv428776	chr4:148432125-148595119	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs28434099	TMEM184C	cis	Thyroid	GTEx
rs28434099	PRMT10	cis	Thyroid	GTEx

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148510200-148520800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr4:148512000-148517800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr4:148512400-148517800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr4:148512600-148518000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr4:148512600-148518000	Weak transcription	NHLF	lung
6	chr4:148512600-148518200	Weak transcription	Stomach Mucosa	stomach
7	chr4:148512800-148515400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr4:148512800-148518000	Weak transcription	HUES48 Cell Line	embryonic stem cell

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