Variant report

Variant	rs2193857
Chromosome Location	chr4:106727328-106727329
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:106726178..106728483-chr4:106755160..106757893,2	K562	blood:
2	chr4:106726516..106728538-chr4:106730107..106732078,2	K562	blood:

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10017111	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10023798	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10516520	1.00[JPT][hapmap]
rs10516521	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10516524	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11097896	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11730825	1.00[JPT][hapmap]
rs1294668	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1294671	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1294672	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1447097	1.00[JPT][hapmap]
rs17035951	1.00[JPT][hapmap]
rs17259931	1.00[JPT][hapmap]
rs17260120	1.00[JPT][hapmap]
rs17260183	1.00[JPT][hapmap]
rs17260856	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17261786	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs17262443	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17262457	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17263714	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs17264527	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1862081	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];1.00[ASN][1000 genomes]
rs1982346	0.83[ASN][1000 genomes]
rs2098571	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2112047	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2112049	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2161046	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2193855	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2193856	1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2216515	1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2216516	1.00[ASN][1000 genomes]
rs2256746	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2305212	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2544399	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2544401	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2544402	1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2544403	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2544414	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2544417	0.82[CHB][hapmap];0.89[CHD][hapmap];0.91[GIH][hapmap];1.00[ASN][1000 genomes]
rs2544418	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2544424	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2544426	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2544429	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2544430	0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2553446	1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2553448	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2553451	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2553452	1.00[CEU][hapmap];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2553456	1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2553457	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2553460	1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2553461	1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2553463	1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2553464	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2553466	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2553467	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2553469	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2553470	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2553471	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2866781	1.00[CEU][hapmap];0.85[GIH][hapmap];0.82[TSI][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3796920	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3796923	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3943980	1.00[ASN][1000 genomes]
rs4317208	0.87[AMR][1000 genomes]
rs4326019	1.00[JPT][hapmap]
rs56843185	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6833345	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs73837092	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73837096	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73839004	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73839006	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73839007	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73839008	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73839010	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7666969	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7676226	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7698817	1.00[JPT][hapmap]
rs961472	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs961473	1.00[CHB][hapmap];1.00[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879700	chr4:106643445-106745057	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:106692400-106729400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:106695200-106757000	Weak transcription	Primary B cells from cord blood	blood
3	chr4:106703200-106755600	Weak transcription	Primary hematopoietic stem cells	blood
4	chr4:106717800-106729000	Weak transcription	Dnd41	blood
5	chr4:106719600-106728800	Weak transcription	Small Intestine	intestine
6	chr4:106724200-106736400	Weak transcription	Ovary	ovary
7	chr4:106724400-106728000	Weak transcription	Fetal Lung	lung
8	chr4:106725600-106730000	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr4:106726200-106727400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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