Variant report

Variant	rs2395048
Chromosome Location	chr7:98765552-98765553
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:98764772..98767332-chr7:98921927..98924468,2	MCF-7	breast:
2	chr7:98765362..98767556-chr7:98768550..98771320,2	K562	blood:
3	chr7:98740582..98743069-chr7:98764310..98765816,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198742	Chromatin interaction
ENSG00000241685	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10248890	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10254104	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10266364	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11764542	0.93[EUR][1000 genomes]
rs11971111	1.00[CEU][hapmap]
rs11977673	0.82[CEU][hapmap]
rs11978345	0.82[CEU][hapmap]
rs11978582	0.82[CEU][hapmap]
rs17161687	0.82[CEU][hapmap]
rs1918019	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1918020	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1918021	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2395022	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2395049	0.89[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs2395050	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2395051	0.94[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs2894224	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4454228	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60083526	0.93[EUR][1000 genomes]
rs62473047	0.98[EUR][1000 genomes]
rs6465739	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6956645	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6960805	0.82[CEU][hapmap]
rs6961579	0.82[CEU][hapmap]
rs6961749	0.91[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs6962075	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6969313	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6975245	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73147614	0.81[EUR][1000 genomes]
rs73147619	0.93[EUR][1000 genomes]
rs73147622	0.93[EUR][1000 genomes]
rs73147625	0.93[EUR][1000 genomes]
rs73147628	0.93[EUR][1000 genomes]
rs73147630	0.93[EUR][1000 genomes]
rs73147632	0.93[EUR][1000 genomes]
rs73147639	0.98[EUR][1000 genomes]
rs73147651	0.93[EUR][1000 genomes]
rs73147652	0.91[EUR][1000 genomes]
rs73147654	0.91[EUR][1000 genomes]
rs73147655	0.91[EUR][1000 genomes]
rs740160	0.82[CEU][hapmap]
rs7788750	1.00[CEU][hapmap];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024529	chr7:98194830-98793518	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv539036	chr7:98194830-98793518	Bivalent/Poised TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	esv2755119	chr7:98721885-98800145	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
4	nsv464645	chr7:98755272-98788589	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv464646	chr7:98755272-98788589	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv607925	chr7:98755272-98788589	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv528070	chr7:98759117-98766930	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:98760800-98767000	Weak transcription	HepG2	liver
2	chr7:98760800-98768600	Weak transcription	Pancreas	Pancrea
3	chr7:98765200-98769200	Weak transcription	Stomach Mucosa	stomach

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