Variant report

Variant	rs12128003
Chromosome Location	chr1:196525729-196525730
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:196521771..196523647-chr1:196525103..196528091,2	K562	blood:
2	chr1:196513692..196516564-chr1:196524408..196527749,3	K562	blood:
3	chr1:196525035..196527662-chr1:196528241..196531754,3	K562	blood:
4	chr1:196525702..196527977-chr1:196529545..196531665,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10754193	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12117379	1.00[ASN][1000 genomes]
rs12121378	0.91[YRI][hapmap];0.82[AFR][1000 genomes]
rs12128544	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12130004	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12133309	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12133639	1.00[ASN][1000 genomes]
rs12136798	1.00[ASN][1000 genomes]
rs12144706	1.00[ASN][1000 genomes]
rs12239898	1.00[ASN][1000 genomes]
rs13375443	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs13375567	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs16840379	1.00[EUR][1000 genomes]
rs17573867	1.00[EUR][1000 genomes]
rs2183225	1.00[CEU][hapmap]
rs2335906	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs28620995	1.00[ASN][1000 genomes]
rs34683486	1.00[EUR][1000 genomes]
rs35229136	1.00[EUR][1000 genomes]
rs35836460	1.00[EUR][1000 genomes]
rs4314834	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4507960	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs4515738	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4625226	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs4658040	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs487114	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs499807	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs512900	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs58257510	1.00[ASN][1000 genomes]
rs6428351	1.00[EUR][1000 genomes]
rs6663649	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6691524	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73069765	1.00[ASN][1000 genomes]
rs73069770	1.00[ASN][1000 genomes]
rs7523548	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7533533	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7540922	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7547724	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs7551203	1.00[CEU][hapmap];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv508685	chr1:196524030-196550980	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats	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	chr1:196509800-196529600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr1:196514600-196527600	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr1:196516200-196526600	Weak transcription	Liver	Liver
4	chr1:196521000-196527000	Weak transcription	NHDF-Ad	bronchial
5	chr1:196525400-196527600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr1:196525600-196526000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell

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