Variant report

No.	Distal block	Cell Line	Cell type
1	chr7:26425982..26428299-chr7:26429554..26431318,2	K562	blood:
2	chr7:26424553..26427469-chr7:26436234..26438892,2	MCF-7	breast:
3	chr7:26422992..26424851-chr7:26426516..26429377,2	K562	blood:

Variant related genes	Relation type
ENSG00000214870	Chromatin interaction

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10807832	0.84[ASN][1000 genomes]
rs10951132	0.84[ASN][1000 genomes]
rs10951133	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10951134	1.00[CEU][hapmap];0.85[CHD][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10951135	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10951136	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10951137	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12670965	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13241375	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs17153504	0.82[JPT][hapmap]
rs3193526	0.84[ASN][1000 genomes]
rs41443545	0.85[CEU][hapmap];0.93[GIH][hapmap]
rs6461935	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6461936	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6950352	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6967677	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7780256	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7780650	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7799362	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9638835	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs9639536	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs9639538	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs9639539	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs966416	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029596	chr7:26302739-26737913	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv538804	chr7:26302739-26737913	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs12531639	LOC441204	cis	cerebellar cortex	BrainEAC
rs12531639	LOC441204	cis	cerebellum	SCAN
rs12531639	LOC441204	cis	brain	BrainEAC
rs12531639	CYCS	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26417200-26427400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr7:26418600-26436000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr7:26422400-26427200	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr7:26422400-26427400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:26422600-26427200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr7:26426600-26427200	Enhancers	Brain Germinal Matrix	brain
7	chr7:26427000-26427600	Enhancers	Fetal Brain Male	brain
8	chr7:26427000-26428400	Enhancers	iPS-20b Cell Line	embryonic stem cell

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