Variant report

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:103558002..103560953-chr7:103574688..103576849,2	K562	blood:
2	chr7:103559217..103561458-chr7:103602758..103604552,2	K562	blood:
3	chr7:103559189..103561458-chr7:103602442..103604552,3	K562	blood:
4	chr7:103558897..103560553-chr7:103751201..103753362,2	K562	blood:
5	chr7:103559740..103561344-chr7:103627840..103629599,2	K562	blood:
6	chr7:103557671..103561484-chr7:103568838..103571877,3	K562	blood:
7	chr7:103559557..103561954-chr7:103587104..103589097,2	K562	blood:
8	chr7:103558397..103560497-chr7:103570377..103574513,3	K562	blood:

No data

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10231405	0.83[CEU][hapmap];0.87[EUR][1000 genomes]
rs10245317	0.88[CEU][hapmap];0.87[EUR][1000 genomes]
rs10272697	0.83[CEU][hapmap];0.85[TSI][hapmap];0.87[EUR][1000 genomes]
rs10274911	0.87[EUR][1000 genomes]
rs12670967	0.85[EUR][1000 genomes]
rs1476927	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17157216	0.94[CEU][hapmap];0.93[GIH][hapmap];0.88[MEX][hapmap];0.95[TSI][hapmap];0.93[EUR][1000 genomes]
rs17157337	0.87[EUR][1000 genomes]
rs17269500	1.00[CEU][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2058503	0.88[EUR][1000 genomes]
rs2058504	0.83[CEU][hapmap];0.87[EUR][1000 genomes]
rs2299401	0.83[CEU][hapmap];0.86[EUR][1000 genomes]
rs2299403	0.83[CEU][hapmap];0.87[EUR][1000 genomes]
rs41434053	0.85[TSI][hapmap];0.84[EUR][1000 genomes]
rs56406130	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59078884	0.83[EUR][1000 genomes]
rs6465945	0.84[EUR][1000 genomes]
rs73183745	0.80[EUR][1000 genomes]
rs73183748	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73183749	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73183755	0.87[EUR][1000 genomes]
rs7797395	0.83[CEU][hapmap];0.85[TSI][hapmap];0.87[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	esv1843940	chr7:103421702-103590285	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv523466	chr7:103547135-103567525	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv933391	chr7:103557392-103588539	Weak transcription Flanking Active TSS Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1476928	AP1S1	cis	cerebellum	SCAN
rs1476928	COPS6	cis	cerebellum	SCAN
rs1476928	CYP3A4	cis	cerebellum	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:103556800-103574400	Weak transcription	HepG2	liver
2	chr7:103558800-103561600	Flanking Active TSS	K562	blood
3	chr7:103559400-103560000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr7:103559600-103560200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr7:103559600-103560400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:103559800-103560200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr7:103559800-103560200	Enhancers	Fetal Brain Male	brain

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