Variant report

Variant	rs56114986
Chromosome Location	chr7:109957274-109957275
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:109951621..109953842-chr7:109955354..109958262,2	K562	blood:

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10234627	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10244422	0.97[ASN][1000 genomes]
rs10245442	0.95[ASN][1000 genomes]
rs10253093	0.94[ASN][1000 genomes]
rs10257748	0.97[ASN][1000 genomes]
rs10257901	0.81[ASN][1000 genomes]
rs1034632	0.94[ASN][1000 genomes]
rs12705678	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12705679	0.85[ASN][1000 genomes]
rs13240708	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs13247393	0.82[ASN][1000 genomes]
rs17157620	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17432057	0.81[ASN][1000 genomes]
rs17509785	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17509853	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1859027	0.85[ASN][1000 genomes]
rs2188819	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28883405	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34013046	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34220176	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34444259	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34468992	0.87[EUR][1000 genomes]
rs35134657	0.80[ASN][1000 genomes]
rs35195918	0.92[ASN][1000 genomes]
rs35225416	0.91[ASN][1000 genomes]
rs35587918	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35594596	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35622757	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs35981128	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55814644	0.81[ASN][1000 genomes]
rs56101192	0.81[ASN][1000 genomes]
rs59324488	0.81[ASN][1000 genomes]
rs6466327	0.85[ASN][1000 genomes]
rs6945910	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6959157	0.94[ASN][1000 genomes]
rs6959375	0.94[ASN][1000 genomes]
rs6960164	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6972687	0.91[ASN][1000 genomes]
rs6975128	0.94[ASN][1000 genomes]
rs71572810	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs71572812	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs73716168	0.82[ASN][1000 genomes]
rs73716169	0.82[ASN][1000 genomes]
rs7800766	0.85[ASN][1000 genomes]
rs7801331	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7802137	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7806423	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7811811	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9770286	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532177	chr7:109319033-110123840	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv531405	chr7:109419044-109958007	Enhancers Strong transcription 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
3	nsv1023428	chr7:109451842-110185072	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv1018228	chr7:109612589-110105473	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv539058	chr7:109612589-110105473	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1027348	chr7:109734695-110004326	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv1030699	chr7:109735284-110017222	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv1016758	chr7:109834827-110549197	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv539059	chr7:109834827-110549197	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
10	nsv1028635	chr7:109896582-110417137	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	nsv539060	chr7:109896582-110417137	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
12	nsv1028823	chr7:109908148-109988231	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv1024052	chr7:109935167-110126445	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	esv1828513	chr7:109948107-110039995	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
15	nsv427800	chr7:109949176-110257457	Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr7:109956800-109959000	Enhancers	HUVEC	blood vessel
2	chr7:109957200-109957800	ZNF genes & repeats	Dnd41	blood
3	chr7:109957200-109958000	Enhancers	NHLF	lung
4	chr7:109957200-109958800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:109957200-109959600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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