Variant report

Variant	rs2194793
Chromosome Location	chr2:56697359-56697360
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:56694865..56697843-chr2:56699153..56701707,2	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10165672	1.00[EUR][1000 genomes]
rs10165892	1.00[EUR][1000 genomes]
rs10166050	1.00[EUR][1000 genomes]
rs10176983	1.00[EUR][1000 genomes]
rs10180194	1.00[EUR][1000 genomes]
rs10181815	1.00[EUR][1000 genomes]
rs10183259	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10193624	1.00[EUR][1000 genomes]
rs10193747	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10198440	1.00[EUR][1000 genomes]
rs10200031	1.00[EUR][1000 genomes]
rs10202374	1.00[EUR][1000 genomes]
rs11887424	1.00[EUR][1000 genomes]
rs11896577	1.00[EUR][1000 genomes]
rs11897129	1.00[EUR][1000 genomes]
rs13384170	1.00[EUR][1000 genomes]
rs13384989	1.00[EUR][1000 genomes]
rs13386727	1.00[EUR][1000 genomes]
rs13387143	1.00[EUR][1000 genomes]
rs13396144	1.00[EUR][1000 genomes]
rs13396365	1.00[TSI][hapmap]
rs13398609	1.00[EUR][1000 genomes]
rs13401849	1.00[EUR][1000 genomes]
rs13407738	1.00[EUR][1000 genomes]
rs13408350	1.00[EUR][1000 genomes]
rs13411174	1.00[EUR][1000 genomes]
rs13412157	1.00[EUR][1000 genomes]
rs13417902	1.00[EUR][1000 genomes]
rs13418673	1.00[EUR][1000 genomes]
rs13421608	1.00[EUR][1000 genomes]
rs13428678	1.00[TSI][hapmap]
rs13431398	1.00[EUR][1000 genomes]
rs17047938	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17047945	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17048166	1.00[EUR][1000 genomes]
rs17048167	1.00[EUR][1000 genomes]
rs17048189	1.00[EUR][1000 genomes]
rs17048223	1.00[EUR][1000 genomes]
rs2081427	1.00[EUR][1000 genomes]
rs2193483	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2216493	1.00[EUR][1000 genomes]
rs28654487	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28678883	1.00[EUR][1000 genomes]
rs55923854	1.00[EUR][1000 genomes]
rs59211909	1.00[EUR][1000 genomes]
rs59956872	1.00[EUR][1000 genomes]
rs6545569	1.00[TSI][hapmap]
rs6741874	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73940723	1.00[EUR][1000 genomes]
rs73940724	1.00[EUR][1000 genomes]
rs73940726	1.00[EUR][1000 genomes]
rs73940728	1.00[EUR][1000 genomes]
rs7556872	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7559732	1.00[EUR][1000 genomes]
rs7570781	1.00[EUR][1000 genomes]
rs7582740	1.00[TSI][hapmap]
rs7586424	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834093	chr2:56538097-56708677	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv1004449	chr2:56538460-56715861	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv874171	chr2:56545845-56727178	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv874172	chr2:56638856-56811749	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv2757800	chr2:56659685-56851198	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv2759052	chr2:56659685-56851198	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56697200-56697400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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