Variant report

Variant	rs28644319
Chromosome Location	chr7:103867165-103867166
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:103858966..103863231-chr7:103865702..103869473,3	K562	blood:
2	chr7:103865736..103867349-chr7:104538878..104541224,2	MCF-7	breast:
3	chr7:103846534..103850528-chr7:103863639..103871951,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164815	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs1019312	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10234499	1.00[EUR][1000 genomes]
rs10235130	1.00[EUR][1000 genomes]
rs10235201	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10241191	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10242752	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10249033	0.90[AMR][1000 genomes]
rs10250235	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10251308	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10251561	1.00[EUR][1000 genomes]
rs10255806	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10256764	1.00[EUR][1000 genomes]
rs10258773	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10262560	1.00[EUR][1000 genomes]
rs10262796	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10262996	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10263828	1.00[EUR][1000 genomes]
rs10266337	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10267412	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10267940	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10268209	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10270562	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10271923	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10275484	1.00[EUR][1000 genomes]
rs10276243	1.00[AMR][1000 genomes]
rs10278320	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10279736	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10281709	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10282300	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10487184	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10487192	1.00[AMR][1000 genomes]
rs11489610	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11972422	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11979390	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11979993	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11980018	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12112576	1.00[EUR][1000 genomes]
rs16873387	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17158586	1.00[EUR][1000 genomes]
rs17159290	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17159774	1.00[EUR][1000 genomes]
rs2307409	1.00[EUR][1000 genomes]
rs2385134	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28481813	1.00[EUR][1000 genomes]
rs28577267	0.83[AMR][1000 genomes]
rs28645598	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28686914	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28702500	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28773535	1.00[EUR][1000 genomes]
rs28820003	1.00[AMR][1000 genomes]
rs58842751	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59750244	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6948021	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6954109	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6962621	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6967711	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6975642	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73413894	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73415704	1.00[AMR][1000 genomes]
rs73415717	1.00[AMR][1000 genomes]
rs73415730	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73415786	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73415801	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73417705	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73417718	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7777446	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7777906	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7810496	1.00[EUR][1000 genomes]
rs9655777	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9656090	0.90[AMR][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	nsv1019640	chr7:103813522-103884705	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
2	nsv1026481	chr7:103813522-103890770	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
3	esv2762692	chr7:103813522-103890782	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
4	nsv526062	chr7:103817597-103891085	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
5	nsv608065	chr7:103817597-103990755	Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
6	nsv1029571	chr7:103855890-103909757	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv608066	chr7:103861035-103916484	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv429789	chr7:103862259-103909757	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:103865000-103870200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr7:103865200-103869600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr7:103865200-103871000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr7:103865200-103871800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr7:103866200-103869000	Weak transcription	Stomach Mucosa	stomach

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