Variant report

Variant	rs6438601
Chromosome Location	chr3:120782246-120782247
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10212452	0.94[ASN][1000 genomes]
rs1191289	0.84[ASN][1000 genomes]
rs1191292	0.85[ASN][1000 genomes]
rs1191294	0.85[ASN][1000 genomes]
rs1191298	0.84[ASN][1000 genomes]
rs1191299	0.81[ASN][1000 genomes]
rs1191307	0.90[ASN][1000 genomes]
rs1191308	0.92[ASN][1000 genomes]
rs1211857	0.92[ASN][1000 genomes]
rs13318249	0.94[ASN][1000 genomes]
rs1504538	0.91[ASN][1000 genomes]
rs1518597	0.94[ASN][1000 genomes]
rs1624360	0.85[ASN][1000 genomes]
rs1625047	0.84[ASN][1000 genomes]
rs16832125	0.96[ASN][1000 genomes]
rs1688686	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1795393	0.89[ASN][1000 genomes]
rs1795412	0.96[ASN][1000 genomes]
rs1920547	0.98[ASN][1000 genomes]
rs2331525	0.97[ASN][1000 genomes]
rs2331526	0.81[AFR][1000 genomes]
rs2331528	0.98[ASN][1000 genomes]
rs2331538	0.94[ASN][1000 genomes]
rs2331539	0.95[ASN][1000 genomes]
rs2331641	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2331642	0.92[ASN][1000 genomes]
rs234996	0.80[ASN][1000 genomes]
rs2679284	0.84[ASN][1000 genomes]
rs2701052	0.87[ASN][1000 genomes]
rs3845850	0.97[ASN][1000 genomes]
rs3845852	0.90[ASN][1000 genomes]
rs3908117	0.94[ASN][1000 genomes]
rs3914737	0.92[ASN][1000 genomes]
rs3934093	0.97[ASN][1000 genomes]
rs4048825	0.99[ASN][1000 genomes]
rs4524222	0.97[ASN][1000 genomes]
rs4676710	0.92[ASN][1000 genomes]
rs470412	0.87[ASN][1000 genomes]
rs470484	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs470537	0.84[ASN][1000 genomes]
rs470931	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs470990	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs471031	0.87[ASN][1000 genomes]
rs487657	0.85[ASN][1000 genomes]
rs594724	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs594838	0.84[ASN][1000 genomes]
rs61797910	0.84[ASN][1000 genomes]
rs628329	0.89[ASN][1000 genomes]
rs636571	0.87[ASN][1000 genomes]
rs638589	0.85[ASN][1000 genomes]
rs657578	0.84[ASN][1000 genomes]
rs664770	0.86[ASN][1000 genomes]
rs6773281	0.99[ASN][1000 genomes]
rs6776790	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6781737	0.84[ASN][1000 genomes]
rs6782749	0.90[ASN][1000 genomes]
rs7637100	0.93[ASN][1000 genomes]
rs7648200	0.94[ASN][1000 genomes]
rs7648612	0.94[ASN][1000 genomes]
rs954569	0.84[ASN][1000 genomes]
rs9815058	0.99[ASN][1000 genomes]
rs9827406	0.92[ASN][1000 genomes]
rs9853679	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9882608	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869548	chr3:120320731-121076337	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv916869	chr3:120360281-120973169	Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1005275	chr3:120700604-121102735	Strong transcription ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
4	nsv998555	chr3:120700604-121348015	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
5	nsv1005551	chr3:120710530-120803826	Strong transcription Enhancers ZNF genes & repeats Weak transcription	TF binding region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1008441	chr3:120730017-121102735	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
7	nsv536709	chr3:120730017-121102735	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1005525	chr3:120749594-121027161	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:120769000-120791200	Weak transcription	Ovary	ovary
2	chr3:120781600-120790800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr3:120782200-120782600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr3:120782200-120783200	Enhancers	H1 Cell Line	embryonic stem cell
5	chr3:120782200-120783200	Enhancers	HUES6 Cell Line	embryonic stem cell

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