Variant report

No.	Distal block	Cell Line	Cell type
1	chr6:53617168..53619456-chr6:53632557..53635306,2	MCF-7	breast:
2	chr6:53611367..53614111-chr6:53617026..53619641,3	MCF-7	breast:
3	chr6:53617028..53618727-chr6:53619608..53622037,2	K562	blood:

Variant related genes	Relation type
ENSG00000227885	Chromatin interaction

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10456165	0.86[JPT][hapmap]
rs10456673	0.86[JPT][hapmap]
rs10948782	0.86[JPT][hapmap]
rs12192118	0.86[JPT][hapmap]
rs12204130	0.86[JPT][hapmap]
rs12211680	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12213577	0.86[JPT][hapmap]
rs13211528	0.86[JPT][hapmap]
rs4639324	0.86[JPT][hapmap]
rs4715423	0.89[CHB][hapmap]
rs7773640	0.89[CHB][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	nsv1034955	chr6:53447607-53931055	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1021506	chr6:53600338-53770482	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs12213392	FBXO9	cis	parietal	SCAN
rs12213392	C6orf142	cis	cerebellum	SCAN
rs12213392	KLHL31	cis	Skin Sun Exposed Lower leg	GTEx
rs12213392	LRRC1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:53601600-53638000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr6:53606400-53619600	Weak transcription	Right Atrium	heart
3	chr6:53614000-53618200	Enhancers	Placenta Amnion	Placenta Amnion
4	chr6:53614800-53618800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr6:53616200-53618800	Enhancers	HMEC	breast
6	chr6:53616600-53619400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr6:53616800-53619000	Enhancers	Hela-S3	cervix
8	chr6:53617200-53618600	Enhancers	HUVEC	blood vessel
9	chr6:53617400-53617800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr6:53617400-53617800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr6:53617400-53617800	Flanking Active TSS	NHEK	skin
12	chr6:53617400-53618200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr6:53617400-53618200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr6:53617400-53618400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr6:53617400-53618400	Enhancers	HSMMtube	muscle
16	chr6:53617400-53618400	Enhancers	NH-A	brain
17	chr6:53617400-53618400	Enhancers	Osteobl	bone
18	chr6:53617400-53618600	Enhancers	Placenta	Placenta
19	chr6:53617400-53618600	Enhancers	HSMM	muscle
20	chr6:53617600-53617800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
21	chr6:53617600-53617800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr6:53617600-53618200	Enhancers	Stomach Mucosa	stomach

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