Variant report

Variant	rs1541417
Chromosome Location	chr7:124448998-124448999
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	chr7:124444700..124447143-chr7:124448372..124449946,2	K562	blood:

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10230948	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10234698	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10241745	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10256073	0.87[CHB][hapmap];0.81[JPT][hapmap]
rs10268290	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10280030	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1034794	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1034795	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10954061	0.94[ASW][hapmap];0.87[CHB][hapmap];0.85[CHD][hapmap];0.81[JPT][hapmap];0.93[MKK][hapmap];0.89[TSI][hapmap];0.81[YRI][hapmap]
rs11766412	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11767519	0.83[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.93[JPT][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11768553	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11770818	0.86[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11772420	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11972411	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12532038	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12533661	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12534967	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12534983	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12537983	0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12538061	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12539481	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12706625	0.93[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12706627	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13222197	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13228358	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17147465	0.99[ASN][1000 genomes]
rs17147723	0.94[ASW][hapmap];0.87[CHB][hapmap];0.85[CHD][hapmap];0.81[JPT][hapmap];0.93[MKK][hapmap];0.89[TSI][hapmap];0.85[YRI][hapmap]
rs2101100	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2291207	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.95[MKK][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2299904	0.93[CHB][hapmap]
rs2402754	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28730874	0.86[ASN][1000 genomes]
rs33964002	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34326887	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35423300	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35550222	0.96[ASN][1000 genomes]
rs4141073	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4141075	0.83[CEU][hapmap];0.93[CHB][hapmap];0.87[CHD][hapmap];0.92[JPT][hapmap];0.89[ASN][1000 genomes]
rs4360236	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs4501522	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4639456	0.93[CHB][hapmap];0.92[JPT][hapmap];0.89[ASN][1000 genomes]
rs4728005	0.93[CHB][hapmap];0.92[JPT][hapmap];0.89[ASN][1000 genomes]
rs4728007	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4731210	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60678110	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62480260	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62480274	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6466951	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6466959	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6943703	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6943797	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6945563	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6946962	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6963885	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6968018	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs716991	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7782296	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7782351	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7784168	0.87[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.94[TSI][hapmap];0.88[YRI][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7784285	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7787804	0.91[CEU][hapmap];0.93[CHB][hapmap];0.96[CHD][hapmap];0.86[JPT][hapmap];0.86[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7794637	0.94[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[JPT][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7795610	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7796751	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7801755	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7804052	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7806890	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9656320	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429809	chr7:123937674-124835925	Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
2	esv3446198	chr7:124358002-124586856	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124445000-124463800	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr7:124445800-124450000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr7:124445800-124450200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr7:124445800-124450200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr7:124445800-124454400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr7:124447000-124450000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr7:124448600-124450000	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr7:124448600-124450200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr7:124448800-124450200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr7:124448800-124450200	Weak transcription	HUES48 Cell Line	embryonic stem cell

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