Variant report

Variant	rs6690518
Chromosome Location	chr1:196480131-196480132
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:196479196..196481656-chr1:196490730..196492820,2	K562	blood:
2	chr1:196462702..196464719-chr1:196478444..196481194,2	K562	blood:
3	chr1:196479081..196481283-chr1:196483341..196485990,2	MCF-7	breast:
4	chr1:196478927..196481406-chr1:196622982..196624630,2	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10737677	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10801540	0.87[YRI][hapmap];1.00[AMR][1000 genomes]
rs10801541	0.87[YRI][hapmap];1.00[AMR][1000 genomes]
rs10801542	0.87[YRI][hapmap];1.00[AMR][1000 genomes]
rs10922080	0.88[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1339948	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1339956	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1361402	1.00[YRI][hapmap]
rs1416963	1.00[AMR][1000 genomes]
rs1416968	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1416969	1.00[YRI][hapmap]
rs1538681	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1538682	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16839768	1.00[AMR][1000 genomes]
rs16839769	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs16839916	1.00[AMR][1000 genomes]
rs16840189	1.00[AMR][1000 genomes]
rs16840219	1.00[AMR][1000 genomes]
rs1890801	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2335902	1.00[AMR][1000 genomes]
rs2335904	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4255328	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4290012	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs4411090	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4484881	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4500252	1.00[AMR][1000 genomes]
rs4607811	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4658035	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4658037	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4658038	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4658044	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4658045	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60840993	1.00[AMR][1000 genomes]
rs6413932	1.00[AMR][1000 genomes]
rs6413933	0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs6428343	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6428344	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6428345	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6657157	1.00[AMR][1000 genomes]
rs6664020	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6678139	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6679424	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6690846	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6692565	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6698581	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73065815	1.00[AMR][1000 genomes]
rs73065832	1.00[AMR][1000 genomes]
rs73065849	1.00[AMR][1000 genomes]
rs7511869	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7512647	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7527233	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7544266	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs7552572	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs946754	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][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	nsv931415	chr1:196270759-196744780	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv1009233	chr1:196301712-196568874	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:196436400-196485200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:196466000-196480800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:196479800-196480800	Enhancers	Liver	Liver
4	chr1:196479800-196481400	Enhancers	K562	blood
5	chr1:196480000-196480200	Enhancers	Fetal Lung	lung
6	chr1:196480000-196482400	Weak transcription	Ovary	ovary

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