Variant report

No.	Distal block	Cell Line	Cell type
1	chr5:57607237..57609695-chr5:57612887..57615120,2	MCF-7	breast:
2	chr5:57611976..57614758-chr5:57615507..57618157,2	MCF-7	breast:
3	chr5:57611690..57614389-chr5:57754372..57756310,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145632	Chromatin interaction

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

rs_ID	r²[population]
rs151807	1.00[CHB][hapmap];0.93[JPT][hapmap];0.97[ASN][1000 genomes]
rs151913	0.96[CEU][hapmap];0.84[TSI][hapmap];0.93[EUR][1000 genomes]
rs151914	0.85[JPT][hapmap]
rs152011	0.92[CEU][hapmap];0.92[TSI][hapmap];0.93[EUR][1000 genomes]
rs152012	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1651127	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs173425	0.86[CHB][hapmap]
rs181764	0.85[JPT][hapmap]
rs184999	1.00[CHB][hapmap];0.89[JPT][hapmap];0.99[ASN][1000 genomes]
rs190304	0.81[JPT][hapmap]
rs245278	0.86[CHB][hapmap]
rs245481	0.85[JPT][hapmap]
rs245491	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.83[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs245494	0.92[CEU][hapmap];0.90[TSI][hapmap]
rs246113	0.87[GIH][hapmap]
rs2910578	0.84[JPT][hapmap]
rs2910606	0.81[JPT][hapmap]
rs37518	0.81[JPT][hapmap]
rs37535	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.95[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs37538	0.91[EUR][1000 genomes]
rs42964	1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs7715909	0.81[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	esv3489100	chr5:57545689-57669673	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	esv3489101	chr5:57545689-57669673	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57608400-57616600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr5:57609200-57615400	Weak transcription	Psoas Muscle	Psoas
3	chr5:57611000-57618200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:57611000-57618400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr5:57611000-57618400	Weak transcription	HMEC	breast
6	chr5:57611200-57614600	Weak transcription	Hela-S3	cervix
7	chr5:57611200-57618600	Weak transcription	NHEK	skin
8	chr5:57611400-57617600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr5:57611800-57618200	Weak transcription	A549	lung
10	chr5:57612800-57615000	Enhancers	HUVEC	blood vessel
11	chr5:57613000-57614800	Enhancers	NHDF-Ad	bronchial
12	chr5:57613200-57614800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr5:57613200-57616800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr5:57613200-57618400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:57613400-57618200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr5:57613800-57614800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr5:57613800-57615000	Enhancers	Osteobl	bone
18	chr5:57614000-57614400	Weak transcription	HSMM	muscle

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