Variant report

Variant	rs60840993
Chromosome Location	chr1:196328520-196328521
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:196321988..196324034-chr1:196327393..196330168,2	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10801540	1.00[AMR][1000 genomes]
rs10801541	1.00[AMR][1000 genomes]
rs10801542	1.00[AMR][1000 genomes]
rs10922080	1.00[AMR][1000 genomes]
rs1339948	1.00[AMR][1000 genomes]
rs1339956	1.00[AMR][1000 genomes]
rs1416963	1.00[AMR][1000 genomes]
rs1416968	1.00[AMR][1000 genomes]
rs1538681	1.00[AMR][1000 genomes]
rs1538682	1.00[AMR][1000 genomes]
rs16839768	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16839769	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16839916	1.00[AMR][1000 genomes]
rs16840189	1.00[AMR][1000 genomes]
rs1890801	1.00[AMR][1000 genomes]
rs2335902	1.00[AMR][1000 genomes]
rs2335904	1.00[AMR][1000 genomes]
rs2477358	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4255328	1.00[AMR][1000 genomes]
rs4290012	1.00[AMR][1000 genomes]
rs4500252	1.00[AMR][1000 genomes]
rs4607811	1.00[AMR][1000 genomes]
rs4658035	1.00[AMR][1000 genomes]
rs4658037	1.00[AMR][1000 genomes]
rs4658038	1.00[AMR][1000 genomes]
rs6413932	1.00[AMR][1000 genomes]
rs6413933	1.00[AMR][1000 genomes]
rs6428343	1.00[AMR][1000 genomes]
rs6428344	1.00[AMR][1000 genomes]
rs6428345	1.00[AMR][1000 genomes]
rs6657157	1.00[AMR][1000 genomes]
rs6664020	1.00[AMR][1000 genomes]
rs6678139	1.00[AMR][1000 genomes]
rs6679424	1.00[AMR][1000 genomes]
rs6690518	1.00[AMR][1000 genomes]
rs6690846	1.00[AMR][1000 genomes]
rs6692565	1.00[AMR][1000 genomes]
rs6696031	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73065815	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73065832	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73065849	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7511869	1.00[AMR][1000 genomes]
rs7512647	1.00[AMR][1000 genomes]
rs7527233	1.00[AMR][1000 genomes]
rs7552572	1.00[AMR][1000 genomes]
rs946754	1.00[AMR][1000 genomes]
rs977157	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469680	chr1:196259846-196419016	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv482746	chr1:196259846-196419016	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	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
4	nsv872953	chr1:196286639-196411281	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv1826904	chr1:196291977-196371432	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a
6	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
7	nsv872954	chr1:196304863-196387809	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:196303200-196332600	Weak transcription	Ovary	ovary
2	chr1:196326800-196330600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr1:196326800-196331200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr1:196327200-196333600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr1:196327200-196342400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr1:196327400-196329600	Weak transcription	Liver	Liver

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