Variant report

No.	Distal block	Cell Line	Cell type
1	chr19:51976417..51978042-chr19:51981994..51984082,2	K562	blood:
2	chr19:51982494..51986261-chr19:52048308..52051566,4	K562	blood:
3	chr19:51982137..51983742-chr19:51991738..51993240,2	K562	blood:
4	chr19:51982291..51985014-chr19:51997405..51999546,2	K562	blood:
5	chr19:51981958..51984243-chr19:52050825..52052568,2	K562	blood:

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10414127	0.94[CEU][hapmap];0.85[JPT][hapmap];0.88[EUR][1000 genomes]
rs10414941	0.94[CEU][hapmap];0.85[JPT][hapmap];0.88[EUR][1000 genomes]
rs10416318	0.94[CEU][hapmap];0.85[JPT][hapmap];0.88[EUR][1000 genomes]
rs10426247	0.88[EUR][1000 genomes]
rs11878388	0.82[YRI][hapmap]
rs12327649	0.85[JPT][hapmap];0.88[EUR][1000 genomes]
rs12327650	0.88[EUR][1000 genomes]
rs16982729	0.90[YRI][hapmap]
rs1902604	0.94[CEU][hapmap];0.85[JPT][hapmap];0.88[EUR][1000 genomes]
rs1993461	0.94[CEU][hapmap];0.85[JPT][hapmap];0.88[EUR][1000 genomes]
rs2607258	0.83[YRI][hapmap]
rs28460194	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28523450	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2864096	0.96[EUR][1000 genomes]
rs34407829	0.88[EUR][1000 genomes]
rs55870623	0.87[EUR][1000 genomes]
rs61743859	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62115069	0.98[ASN][1000 genomes]
rs62115071	0.98[ASN][1000 genomes]
rs62115074	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62115075	0.87[EUR][1000 genomes]
rs62115077	0.83[EUR][1000 genomes]
rs62115082	0.98[ASN][1000 genomes]
rs62116164	0.98[ASN][1000 genomes]
rs7251664	0.97[EUR][1000 genomes]
rs8101768	0.89[AFR][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	nsv1066308	chr19:51680133-52103974	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv544049	chr19:51680133-52103974	Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	nsv544051	chr19:51944903-52147459	Bivalent Enhancer Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 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	chr19:51981400-51984000	Active TSS	Duodenum Mucosa	Duodenum
2	chr19:51981800-51983400	Enhancers	Stomach Mucosa	stomach
3	chr19:51982000-51983200	Active TSS	Fetal Intestine Large	intestine
4	chr19:51982600-51984200	Weak transcription	K562	blood
5	chr19:51982800-51983600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr19:51982800-51983600	Active TSS	Fetal Intestine Small	intestine

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