Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:168812635..168815594-chr1:168827412..168829922,2	MCF-7	breast:
2	chr1:168810232..168812979-chr1:168875337..168877595,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12239491	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12405834	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12405968	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12407753	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12410966	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1322500	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13375532	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16861687	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59682281	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61567478	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs74123028	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74123029	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74123030	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74123031	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74123035	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74123036	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7525887	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7547710	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7548313	0.92[ASN][1000 genomes]
rs7548404	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs857646	0.92[ASN][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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:168803800-168814600	Weak transcription	Left Ventricle	heart
2	chr1:168810400-168816000	Enhancers	Stomach Mucosa	stomach
3	chr1:168811400-168816200	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr1:168811600-168814000	Enhancers	Fetal Heart	heart
5	chr1:168812400-168812800	Enhancers	Brain Anterior Caudate	brain
6	chr1:168812400-168813600	Weak transcription	Fetal Lung	lung
7	chr1:168812400-168816000	Enhancers	Fetal Brain Male	brain
8	chr1:168812600-168813000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
9	chr1:168812600-168813400	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr1:168812600-168813400	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr1:168812600-168813600	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr1:168812600-168817800	Weak transcription	Psoas Muscle	Psoas

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