Variant report

No.	Distal block	Cell Line	Cell type
1	chr12:118022633..118025117-chr12:118025734..118027901,2	MCF-7	breast:
2	chr12:117804232..117805770-chr12:118025194..118026446,7	MCF-7	breast:
3	chr12:117804517..117805451-chr12:118024901..118026439,8	MCF-7	breast:
4	chr12:117652926..117655483-chr12:118025370..118027295,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10444499	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10735108	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10774940	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11068589	0.85[EUR][1000 genomes]
rs1400593	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1517196	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1517201	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1517204	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1568154	0.81[EUR][1000 genomes]
rs1850403	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1976755	0.81[EUR][1000 genomes]
rs2650169	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4570668	0.85[EUR][1000 genomes]
rs4767580	0.86[EUR][1000 genomes]
rs4767581	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4767583	0.85[EUR][1000 genomes]
rs6490130	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6490131	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6490137	0.86[EUR][1000 genomes]
rs6490139	0.86[EUR][1000 genomes]
rs708861	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7305557	0.85[EUR][1000 genomes]
rs7956575	0.90[EUR][1000 genomes]
rs7957425	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7980301	0.81[EUR][1000 genomes]
rs816195	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs860113	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832527	chr12:117974007-118110244	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1400589	NIP30	trans	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118021800-118036800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr12:118025400-118026600	Enhancers	A549	lung
3	chr12:118025400-118030800	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr12:118025600-118027000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr12:118025600-118030800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr12:118025600-118030800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr12:118026400-118026600	Enhancers	Liver	Liver

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