Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:168794117..168795624-chr1:169074851..169077516,2	MCF-7	breast:
2	chr1:168792989..168797367-chr1:169074002..169077779,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143153	Chromatin interaction

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10919009	0.82[EUR][1000 genomes]
rs12057370	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12063749	0.86[AFR][1000 genomes]
rs12075363	0.96[EUR][1000 genomes]
rs1322495	0.84[EUR][1000 genomes]
rs1570332	0.84[EUR][1000 genomes]
rs1570333	0.82[EUR][1000 genomes]
rs1590286	0.82[EUR][1000 genomes]
rs200577	0.84[EUR][1000 genomes]
rs2419389	0.84[EUR][1000 genomes]
rs56834131	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61801628	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61801629	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61801631	0.96[EUR][1000 genomes]
rs61801632	0.96[EUR][1000 genomes]
rs61801634	0.96[EUR][1000 genomes]
rs61801636	0.96[EUR][1000 genomes]
rs61801637	0.96[EUR][1000 genomes]
rs61801650	0.96[EUR][1000 genomes]
rs61801651	0.96[EUR][1000 genomes]
rs61801652	0.96[EUR][1000 genomes]
rs61801653	0.96[EUR][1000 genomes]
rs61801655	0.96[EUR][1000 genomes]
rs61801656	0.96[EUR][1000 genomes]
rs6427154	0.84[EUR][1000 genomes]
rs6670610	0.82[EUR][1000 genomes]
rs6686910	0.82[EUR][1000 genomes]
rs704837	0.84[EUR][1000 genomes]
rs7513128	0.84[EUR][1000 genomes]
rs857632	0.84[EUR][1000 genomes]
rs857634	0.84[EUR][1000 genomes]
rs857636	0.84[EUR][1000 genomes]
rs857638	0.84[EUR][1000 genomes]
rs857639	0.82[EUR][1000 genomes]
rs857640	0.84[EUR][1000 genomes]
rs857642	0.84[EUR][1000 genomes]
rs857644	0.80[EUR][1000 genomes]
rs968047	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869415	chr1:168467284-169153863	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
2	nsv831847	chr1:168669877-168850129	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv464250	chr1:168772393-168826032	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv548145	chr1:168772393-168826032	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:168793800-168803200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:168794000-168801600	Weak transcription	Fetal Muscle Leg	muscle
3	chr1:168794000-168802800	Weak transcription	Gastric	stomach
4	chr1:168794600-168796000	Enhancers	Fetal Heart	heart
5	chr1:168794800-168796000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:168795200-168795800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:168795200-168797400	Enhancers	Colon Smooth Muscle	Colon

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