Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:112739028..112741013-chr3:112741247..112744178,2	MCF-7	breast:
2	chr3:112737944..112740909-chr3:112760087..112762982,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000243483	Chromatin interaction

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

rs_ID	r²[population]
rs10460813	0.91[CEU][hapmap];0.81[MEX][hapmap]
rs10934211	0.95[CHB][hapmap];0.95[CHD][hapmap];0.91[JPT][hapmap];0.83[MEX][hapmap];0.89[ASN][1000 genomes]
rs1110819	0.91[CEU][hapmap]
rs11718449	0.83[MEX][hapmap]
rs1488189	0.95[CHB][hapmap];0.97[CHD][hapmap];0.91[JPT][hapmap];0.83[MEX][hapmap];0.93[ASN][1000 genomes]
rs1488190	0.83[AMR][1000 genomes]
rs1809629	0.90[CEU][hapmap]
rs2272393	0.95[CHB][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs2276769	0.91[CEU][hapmap];0.81[MEX][hapmap]
rs2293560	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2293562	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2306857	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3872609	0.91[CEU][hapmap]
rs3889123	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4682451	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6438123	0.83[AMR][1000 genomes]
rs6796453	0.98[ASN][1000 genomes]
rs7633507	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7650656	0.85[CHB][hapmap];0.83[MEX][hapmap]
rs9288967	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.96[ASN][1000 genomes]
rs9866791	0.92[ASN][1000 genomes]
rs9874803	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.88[TSI][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[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	esv3431441	chr3:112453467-113213252	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	esv1843165	chr3:112628205-112740145	Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs3872610	GTPBP8	Cis_1M	lymphoblastoid	RTeQTL
rs3872610	GTPBP8	cis	cerebellum	SCAN
rs3872610	GTPBP8	cis	lymphoblastoid	seeQTL
rs3872610	C3orf17	cis	cerebellum	SCAN

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112739000-112740200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr3:112739000-112740800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:112739000-112740800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr3:112739000-112742400	Weak transcription	Gastric	stomach
5	chr3:112739200-112740400	Enhancers	NHEK	skin
6	chr3:112739200-112741400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr3:112739200-112744000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr3:112739400-112740200	Enhancers	Stomach Smooth Muscle	stomach
9	chr3:112739400-112741200	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr3:112739600-112740200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr3:112739600-112743000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr3:112739800-112740400	Enhancers	Dnd41	blood
13	chr3:112739800-112743600	Weak transcription	Fetal Thymus	thymus
14	chr3:112740000-112740800	Enhancers	Primary T cells from cord blood	blood
15	chr3:112740000-112740800	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr3:112740000-112740800	Enhancers	HMEC	breast
17	chr3:112740000-112742600	Weak transcription	Fetal Muscle Leg	muscle
18	chr3:112740000-112743400	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr3:112740000-112743600	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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