Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA2	chr4:100495563-100496461	HepG2	liver:	n/a	n/a
2	MYBL2	chr4:100495474-100496594	HepG2	liver:	n/a	n/a
3	TEAD4	chr4:100495534-100496467	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:100483825..100487294-chr4:100492777..100496037,4	K562	blood:
2	chr4:100483825..100487771-chr4:100493784..100496037,3	K562	blood:
3	chr4:100493820..100495717-chr4:100499196..100502149,2	K562	blood:

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10000018	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10009198	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10019266	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10031512	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11941470	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12647527	0.83[AFR][1000 genomes]
rs1491235	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1503774	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs17029108	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17029165	0.82[AFR][1000 genomes]
rs1873516	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1873517	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2089079	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3811800	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6532820	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7661453	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7661665	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7693979	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs867380	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs867381	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs884274	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs884275	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9990558	0.84[AMR][1000 genomes];0.96[ASN][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	nsv879656	chr4:99976646-100533722	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv933074	chr4:100460951-100630600	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv1833664	chr4:100495571-100504985	Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:100493800-100495800	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr4:100494200-100495800	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr4:100494400-100495800	Weak transcription	Aorta	Aorta
4	chr4:100494600-100495600	Enhancers	Fetal Intestine Large	intestine
5	chr4:100494600-100495800	Enhancers	Fetal Intestine Small	intestine
6	chr4:100495000-100495600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr4:100495000-100495800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:100495000-100495800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr4:100495000-100496400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr4:100495200-100495800	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr4:100495200-100495800	Weak transcription	Ovary	ovary
12	chr4:100495200-100495800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr4:100495200-100496000	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr4:100495200-100496000	Flanking Active TSS	HepG2	liver
15	chr4:100495400-100495600	Active TSS	Duodenum Mucosa	Duodenum
16	chr4:100495400-100496200	Flanking Active TSS	Liver	Liver
17	chr4:100495400-100497000	Enhancers	HUES64 Cell Line	embryonic stem cell

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