Variant report

Variant	rs1528547
Chromosome Location	chr4:99473787-99473788
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10002696	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10006366	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10006430	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10018825	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10025051	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11097619	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs13108940	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs13123700	0.87[ASN][1000 genomes]
rs13149070	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1534554	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1534555	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1573478	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1919210	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2037832	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2866017	0.82[ASN][1000 genomes]
rs28886705	0.82[ASN][1000 genomes]
rs4447870	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4699343	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4699344	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4699345	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4699348	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4699349	0.81[ASN][1000 genomes]
rs4699639	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4699640	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4699644	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4699646	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4699648	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6815038	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6823547	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6837359	0.89[EUR][1000 genomes]
rs6847124	0.81[ASN][1000 genomes]
rs71600251	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7678323	0.81[ASN][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	esv2754250	chr4:99094922-99527122	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1004181	chr4:99208152-99529576	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv2760882	chr4:99460485-99521345	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99459200-99479600	Weak transcription	Spleen	Spleen
2	chr4:99463800-99478800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr4:99466400-99477000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:99466600-99479800	Weak transcription	Fetal Thymus	thymus
5	chr4:99466800-99501600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr4:99468400-99482200	Weak transcription	Esophagus	oesophagus
7	chr4:99468600-99477000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr4:99468600-99477000	Weak transcription	HMEC	breast
9	chr4:99468800-99476000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr4:99468800-99476000	Weak transcription	Fetal Brain Male	brain
11	chr4:99468800-99476000	Weak transcription	HUVEC	blood vessel
12	chr4:99468800-99476200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr4:99468800-99476200	Weak transcription	Ovary	ovary
14	chr4:99468800-99476200	Weak transcription	NH-A	brain
15	chr4:99468800-99477000	Weak transcription	HSMMtube	muscle
16	chr4:99468800-99477200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr4:99469000-99476200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr4:99469000-99476600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr4:99469000-99482800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr4:99472000-99475200	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr4:99472000-99475400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr4:99473200-99474000	Strong transcription	HSMM	muscle
23	chr4:99473400-99474000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr4:99473600-99475200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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