Variant report

Variant	rs56966144
Chromosome Location	chr7:100498726-100498727
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:100494057..100496619-chr7:100498348..100500354,3	MCF-7	breast:
2	chr7:100493681..100497136-chr7:100497914..100501900,6	K562	blood:
3	chr7:100495042..100497121-chr7:100497583..100500198,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000087085	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10247855	1.00[ASN][1000 genomes]
rs10261229	1.00[ASN][1000 genomes]
rs11171	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17162518	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17228616	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1799805	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2571602	0.89[EUR][1000 genomes]
rs2904852	1.00[ASN][1000 genomes]
rs34840477	1.00[ASN][1000 genomes]
rs4236546	1.00[ASN][1000 genomes]
rs4236547	1.00[ASN][1000 genomes]
rs4364565	1.00[ASN][1000 genomes]
rs4448204	1.00[ASN][1000 genomes]
rs4574778	1.00[ASN][1000 genomes]
rs55833792	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56194187	1.00[ASN][1000 genomes]
rs56696877	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57322794	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58194245	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6465778	1.00[ASN][1000 genomes]
rs6959542	1.00[ASN][1000 genomes]
rs71557210	1.00[ASN][1000 genomes]
rs73714210	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7636	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7787389	1.00[ASN][1000 genomes]
rs7801190	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7808329	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7811415	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020837	chr7:100313122-100508635	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	esv1832517	chr7:100355490-100749246	Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
3	esv2758125	chr7:100355490-100749246	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
4	esv2759547	chr7:100355490-100749246	Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
5	nsv1032673	chr7:100382250-100606794	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
6	nsv464648	chr7:100422156-100518458	Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
7	nsv607966	chr7:100422156-100518458	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
8	nsv831073	chr7:100425659-100544888	Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100495400-100499800	Weak transcription	Colonic Mucosa	Colon
2	chr7:100498400-100498800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:100498400-100499000	Enhancers	Duodenum Mucosa	Duodenum
4	chr7:100498400-100499000	Enhancers	Pancreas	Pancrea
5	chr7:100498400-100500000	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr7:100498400-100500200	Enhancers	Liver	Liver
7	chr7:100498400-100501200	Enhancers	Fetal Intestine Large	intestine
8	chr7:100498400-100501200	Enhancers	Fetal Intestine Small	intestine
9	chr7:100498400-100501200	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr7:100498600-100498800	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
11	chr7:100498600-100498800	Enhancers	Right Atrium	heart
12	chr7:100498600-100499000	Enhancers	Gastric	stomach
13	chr7:100498600-100499000	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
14	chr7:100498600-100499200	Enhancers	Stomach Mucosa	stomach
15	chr7:100498600-100500000	Enhancers	HepG2	liver
16	chr7:100498600-100500000	Enhancers	K562	blood

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