Variant report

Variant	rs9995550
Chromosome Location	chr4:44930052-44930053
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:44929424..44930054-chr4:46276256..46277090,2	MCF-7	breast:

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10013435	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10032741	1.00[EUR][1000 genomes]
rs10033345	1.00[EUR][1000 genomes]
rs10212655	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10212928	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10938375	1.00[EUR][1000 genomes]
rs1116272	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12374403	1.00[EUR][1000 genomes]
rs12650727	0.94[EUR][1000 genomes]
rs13144957	1.00[EUR][1000 genomes]
rs1390919	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1390925	1.00[EUR][1000 genomes]
rs1390928	1.00[EUR][1000 genomes]
rs1472395	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1496982	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1496984	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1496985	0.90[AFR][1000 genomes]
rs1496995	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1497001	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1497012	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1826866	1.00[EUR][1000 genomes]
rs1845945	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1845946	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1845950	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1845951	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1845953	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1908806	1.00[EUR][1000 genomes]
rs2348810	1.00[EUR][1000 genomes]
rs4074005	1.00[EUR][1000 genomes]
rs4074006	1.00[EUR][1000 genomes]
rs4235135	0.94[EUR][1000 genomes]
rs4498167	1.00[EUR][1000 genomes]
rs4695068	0.94[EUR][1000 genomes]
rs62409683	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62409740	0.94[EUR][1000 genomes]
rs62409741	0.94[EUR][1000 genomes]
rs62409743	0.94[EUR][1000 genomes]
rs62411583	0.86[EUR][1000 genomes]
rs6841428	0.88[AMR][1000 genomes]
rs73141582	0.94[EUR][1000 genomes]
rs7653979	0.97[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs7661005	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7670039	0.94[EUR][1000 genomes]
rs7678611	1.00[EUR][1000 genomes]
rs7690764	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9291252	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9291253	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9291257	1.00[EUR][1000 genomes]
rs978555	1.00[EUR][1000 genomes]
rs9998147	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531944	chr4:44299343-45200700	Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1013488	chr4:44543808-44976123	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv915992	chr4:44705614-44972966	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1014327	chr4:44735209-45218149	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv878979	chr4:44871931-45102488	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv432591	chr4:44922068-45017576	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:44929400-44932400	Enhancers	Fetal Heart	heart
2	chr4:44929600-44930200	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr4:44929600-44931000	Enhancers	Fetal Kidney	kidney
4	chr4:44929800-44930800	Enhancers	Stomach Mucosa	stomach
5	chr4:44929800-44931000	Enhancers	Fetal Lung	lung
6	chr4:44930000-44930200	Enhancers	Fetal Brain Male	brain
7	chr4:44930000-44930800	Enhancers	Fetal Intestine Small	intestine
8	chr4:44930000-44930800	Enhancers	Fetal Muscle Leg	muscle
9	chr4:44930000-44959400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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