Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:74619697..74622468-chr5:74630363..74633145,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000247372	Chromatin interaction
ENSG00000113161	Chromatin interaction

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs16872536	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2303152	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs3857388	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3925086	0.83[ASN][1000 genomes]
rs56361267	0.83[ASN][1000 genomes]
rs5744566	0.83[ASN][1000 genomes]
rs5744567	0.83[ASN][1000 genomes]
rs5744572	0.83[ASN][1000 genomes]
rs57566899	0.83[ASN][1000 genomes]
rs59171406	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61001560	0.83[ASN][1000 genomes]
rs61080643	0.83[ASN][1000 genomes]
rs61175242	0.83[ASN][1000 genomes]
rs61375955	0.87[ASN][1000 genomes]
rs6878576	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73763102	0.83[ASN][1000 genomes]
rs73764903	0.83[ASN][1000 genomes]
rs73764904	0.81[ASN][1000 genomes]
rs73764905	0.83[ASN][1000 genomes]
rs73764909	0.83[ASN][1000 genomes]
rs73764910	0.83[ASN][1000 genomes]
rs73764914	0.83[ASN][1000 genomes]
rs73764925	0.83[ASN][1000 genomes]
rs9791146	0.83[ASN][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	nsv1016610	chr5:74403611-74627654	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74614000-74621400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr5:74617200-74624000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:74617200-74626000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:74617600-74623400	Weak transcription	NHDF-Ad	bronchial
5	chr5:74618400-74620400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr5:74619000-74620400	Weak transcription	A549	lung
7	chr5:74619000-74623000	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr5:74619000-74623000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr5:74619000-74631400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr5:74619400-74632200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr5:74620200-74620400	Enhancers	H1 Cell Line	embryonic stem cell
12	chr5:74620200-74620400	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr5:74620200-74620400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr5:74620200-74620600	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr5:74620200-74621000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr5:74620200-74621600	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr5:74620200-74621800	Enhancers	HepG2	liver

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