Variant report

Variant	rs57941647
Chromosome Location	chr7:3352713-3352714
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:3351745..3355702-chr7:3356161..3359964,4	K562	blood:

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10276122	1.00[AMR][1000 genomes]
rs12113645	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28867718	1.00[AMR][1000 genomes]
rs56753309	1.00[AMR][1000 genomes]
rs57348351	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57447860	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57456054	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58262427	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58317645	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58502351	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58843670	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58949619	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58993463	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59064718	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59223438	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60666675	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61007926	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73284319	1.00[AMR][1000 genomes]
rs73284328	1.00[EUR][1000 genomes]
rs73286317	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73286326	1.00[AFR][1000 genomes]
rs73286330	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73286334	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73286340	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73286341	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73286352	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73286356	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73286357	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73286358	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73286361	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73286362	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73286364	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73288335	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73288341	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73288342	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73288349	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73288369	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73290049	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73290052	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73290058	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73290066	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73292162	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73292182	1.00[EUR][1000 genomes]
rs73292183	1.00[EUR][1000 genomes]
rs73292190	1.00[EUR][1000 genomes]
rs73294209	1.00[EUR][1000 genomes]
rs73297033	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023127	chr7:3216344-3466223	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1018173	chr7:3258989-3879848	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv538660	chr7:3258989-3879848	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2758100	chr7:3286625-3560229	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv2759500	chr7:3286625-3560229	Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1016555	chr7:3298478-3872512	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv538661	chr7:3298478-3872512	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1019515	chr7:3300048-3479972	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv887324	chr7:3308195-3400105	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv605892	chr7:3341589-3424878	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv1020764	chr7:3348458-3554820	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv538662	chr7:3348458-3554820	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3343800-3357000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr7:3344600-3366600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:3344800-3354600	Weak transcription	Pancreas	Pancrea
4	chr7:3346200-3362400	Weak transcription	Aorta	Aorta
5	chr7:3350200-3366800	Weak transcription	Fetal Brain Male	brain
6	chr7:3350600-3358800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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