Variant report

Variant	rs6751803
Chromosome Location	chr2:126401889-126401890
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs12711707	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12711708	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12711709	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13012700	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13013152	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13013229	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13014145	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13400049	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13413585	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13425306	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13432902	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1365782	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1365783	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1365784	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1365785	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1365786	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1365787	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1863680	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1863681	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1946411	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1946412	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2098969	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34144040	0.92[EUR][1000 genomes]
rs35381463	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35676767	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35793929	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3962037	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4399732	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4849042	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4849043	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55672225	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55730795	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6719161	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6729230	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6758023	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999840	chr2:125902993-126683646	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1012762	chr2:125902993-126755660	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv535915	chr2:125902993-126755660	ZNF genes & repeats Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv1001555	chr2:125904415-126630781	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv535916	chr2:125904415-126630781	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv998839	chr2:126102160-126641282	Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv533313	chr2:126129440-126630783	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv1000070	chr2:126138320-126915275	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	esv2751825	chr2:126193197-126442014	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv1006725	chr2:126232594-126426312	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	esv2760605	chr2:126238109-126480968	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv459219	chr2:126260742-126503735	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv582885	chr2:126260742-126503735	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv870190	chr2:126267468-126699123	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:126401200-126402000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:126401600-126402000	Enhancers	Adipose Nuclei	Adipose
3	chr2:126401600-126402000	Enhancers	Rectal Mucosa Donor 29	rectum
4	chr2:126401800-126402200	Enhancers	GM12878-XiMat	blood

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