Variant report

No.	Distal block	Cell Line	Cell type
1	chr7:106421019..106423387-chr7:106739356..106741392,2	K562	blood:
2	chr7:106646100..106649101-chr7:106740481..106744411,5	K562	blood:
3	chr7:106729487..106732696-chr7:106740924..106743417,3	K562	blood:
4	chr7:106740731..106742473-chr7:106742481..106744526,2	K562	blood:
5	chr7:106740395..106742534-chr7:106758353..106760020,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000005249	Chromatin interaction
ENSG00000251978	Chromatin interaction

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10248105	0.88[YRI][hapmap]
rs10249866	0.82[AFR][1000 genomes]
rs10261881	1.00[YRI][hapmap]
rs10272371	0.89[YRI][hapmap]
rs10281856	0.94[ASW][hapmap];0.88[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.95[YRI][hapmap];0.91[ASN][1000 genomes]
rs11760261	0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12667954	0.82[JPT][hapmap]
rs12705402	0.83[JPT][hapmap]
rs12705403	0.83[JPT][hapmap]
rs13311274	0.94[ASN][1000 genomes]
rs1860803	0.87[ASW][hapmap];0.84[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[YRI][hapmap];0.90[ASN][1000 genomes]
rs2237652	0.83[JPT][hapmap]
rs2237653	0.85[YRI][hapmap]
rs2237654	0.82[JPT][hapmap]
rs2237656	0.83[JPT][hapmap]
rs2250121	0.89[YRI][hapmap]
rs2302453	0.83[JPT][hapmap]
rs28873708	0.82[AFR][1000 genomes]
rs3735613	0.82[CHD][hapmap];0.83[JPT][hapmap]
rs3801968	0.89[ASN][1000 genomes]
rs3801969	0.83[JPT][hapmap]
rs6466156	1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs6466159	0.96[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs6955387	0.85[CEU][hapmap];0.90[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs6960708	0.95[YRI][hapmap]
rs741008	0.83[JPT][hapmap]
rs7778076	0.80[YRI][hapmap]
rs7786692	0.89[YRI][hapmap]
rs7800621	0.96[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs7809330	0.83[JPT][hapmap]
rs917760	0.83[JPT][hapmap]
rs9648946	0.83[JPT][hapmap]

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	nsv831087	chr7:106673465-106872460	Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv608072	chr7:106718347-106753248	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs717099	ATXN7L1	cis	cerebellum	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:106732000-106746000	Weak transcription	Right Atrium	heart
2	chr7:106740000-106744200	Weak transcription	Gastric	stomach
3	chr7:106740400-106741800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:106740400-106742200	Enhancers	HUVEC	blood vessel
5	chr7:106740400-106746000	Weak transcription	Spleen	Spleen
6	chr7:106740800-106741400	Weak transcription	K562	blood

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