Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:44152736..44154248-chr12:45340094..45342820,2	K562	blood:
2	chr12:45336563..45338424-chr12:45340632..45342622,2	K562	blood:

Variant related genes	Relation type
ENSG00000198001	Chromatin interaction

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs268024	0.84[YRI][hapmap]
rs268038	0.84[YRI][hapmap]
rs369442	0.81[AFR][1000 genomes]
rs372281	0.83[AFR][1000 genomes]
rs374038	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs375660	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs376052	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs376283	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs377352	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs381841	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs383227	1.00[AMR][1000 genomes]
rs385584	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs389144	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs392849	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs399567	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs411486	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs421642	0.84[YRI][hapmap]
rs436453	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs445380	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs447309	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs447351	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899049	chr12:45299202-45376053	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv899050	chr12:45299202-45400614	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv899051	chr12:45307633-45376053	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv527565	chr12:45319767-45365812	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45337000-45342400	Weak transcription	HepG2	liver
2	chr12:45340200-45341600	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr12:45340600-45341000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr12:45340600-45341200	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr12:45340600-45341600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:45340800-45341000	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr12:45340800-45341400	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr12:45340800-45342200	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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