Variant report

No.	Distal block	Cell Line	Cell type
1	chr3:141451116..141452922-chr3:141454419..141455938,2	MCF-7	breast:
2	chr3:141452499..141459593-chr3:141591792..141599045,17	MCF-7	breast:
3	chr3:141357032..141359290-chr3:141454667..141456901,2	K562	blood:
4	chr3:141452889..141455273-chr3:141594959..141597402,2	K562	blood:
5	chr3:141444902..141447565-chr3:141453694..141455586,2	MCF-7	breast:
6	chr3:141451573..141455398-chr3:141593572..141596886,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000069849	Chromatin interaction

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1105082	0.96[ASN][1000 genomes]
rs11542226	0.89[AFR][1000 genomes]
rs1533501	0.81[AFR][1000 genomes]
rs16851704	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16851717	0.88[EUR][1000 genomes]
rs16851740	0.88[EUR][1000 genomes]
rs16851752	0.86[EUR][1000 genomes]
rs1879284	0.88[EUR][1000 genomes]
rs1879285	0.88[EUR][1000 genomes]
rs1980191	0.88[ASN][1000 genomes]
rs1980192	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3773840	0.88[EUR][1000 genomes]
rs4538350	0.88[EUR][1000 genomes]
rs4588340	0.81[AFR][1000 genomes]
rs57394236	0.81[EUR][1000 genomes]
rs57805567	0.81[EUR][1000 genomes]
rs57983026	0.88[EUR][1000 genomes]
rs58115387	0.85[AFR][1000 genomes]
rs58300294	0.86[EUR][1000 genomes]
rs60806348	0.94[ASN][1000 genomes]
rs60938827	0.86[EUR][1000 genomes]
rs61278509	0.81[EUR][1000 genomes]
rs61294533	0.81[EUR][1000 genomes]
rs61632965	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6783647	0.88[EUR][1000 genomes]
rs6783736	0.88[EUR][1000 genomes]
rs6787712	0.83[EUR][1000 genomes]
rs73226657	0.80[ASN][1000 genomes]
rs73872318	0.81[EUR][1000 genomes]
rs73872319	0.81[EUR][1000 genomes]
rs73872322	0.81[EUR][1000 genomes]
rs7632069	0.86[EUR][1000 genomes]
rs7642922	0.88[EUR][1000 genomes]
rs7643689	0.81[AFR][1000 genomes]
rs9789959	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9789973	0.88[EUR][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	nsv949709	chr3:141295050-142178144	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv877552	chr3:141420562-141466147	Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs59998648	RNF7	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141444800-141456600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr3:141447800-141456600	Weak transcription	Fetal Intestine Large	intestine
3	chr3:141449800-141456600	Weak transcription	Stomach Mucosa	stomach
4	chr3:141451200-141456600	Weak transcription	Aorta	Aorta
5	chr3:141453400-141456600	Enhancers	K562	blood
6	chr3:141453600-141455800	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr3:141453800-141456400	Enhancers	HepG2	liver
8	chr3:141454800-141455800	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr3:141455000-141456600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr3:141455000-141457000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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