Variant report

Variant	rs28478673
Chromosome Location	chr7:12989789-12989790
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:12982597..12985238-chr7:12986749..12990745,4	K562	blood:
2	chr7:12989172..12991049-chr7:13002352..13005089,2	K562	blood:
3	chr7:12982252..12985209-chr7:12989086..12991470,2	MCF-7	breast:
4	chr7:12985845..12987465-chr7:12989105..12990628,2	MCF-7	breast:
5	chr7:12988128..12991573-chr7:12991577..12994524,4	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10254523	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10479912	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11765383	1.00[ASN][1000 genomes]
rs2024402	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs246826	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs246828	0.94[ASN][1000 genomes]
rs34044	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34048	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34049	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34055	0.91[ASN][1000 genomes]
rs34066	0.90[ASN][1000 genomes]
rs34067	0.89[ASN][1000 genomes]
rs34068	0.90[ASN][1000 genomes]
rs34076	0.87[ASN][1000 genomes]
rs34078	0.81[ASN][1000 genomes]
rs4721165	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4721168	0.81[EUR][1000 genomes]
rs58455143	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6969615	0.94[ASN][1000 genomes]
rs73301278	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932020	chr7:12676890-13239551	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv868830	chr7:12712753-13517417	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv606235	chr7:12781381-13205950	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1020568	chr7:12802640-13183737	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv464384	chr7:12907178-13077065	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv606238	chr7:12907178-13077065	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1029771	chr7:12927648-13153855	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv538736	chr7:12927648-13153855	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv1026624	chr7:12963907-13123408	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv981786	chr7:12968068-12991292	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv887642	chr7:12973609-13067198	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	3 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	chr7:12979800-12991000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:12981800-12991000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr7:12982600-12991000	Weak transcription	Osteobl	bone
4	chr7:12984000-12991000	Weak transcription	NHEK	skin
5	chr7:12988000-12990200	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr7:12988800-12989800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr7:12988800-12989800	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr7:12989000-12989800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr7:12989000-12989800	Enhancers	Brain Substantia Nigra	brain
10	chr7:12989200-12990800	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr7:12989400-12990600	Weak transcription	HUVEC	blood vessel
12	chr7:12989600-12991000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr7:12989600-12991000	Weak transcription	HMEC	breast
14	chr7:12989600-12991200	Weak transcription	A549	lung
15	chr7:12989600-12991200	Weak transcription	K562	blood
16	chr7:12989600-12991400	Weak transcription	Hela-S3	cervix
17	chr7:12989600-12993800	Weak transcription	HSMMtube	muscle

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