Variant report

Variant	rs2043654
Chromosome Location	chr4:96683747-96683748
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10006978	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs11097483	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11097484	0.80[EUR][1000 genomes]
rs11931750	0.81[EUR][1000 genomes]
rs11931752	0.81[EUR][1000 genomes]
rs11946552	0.92[EUR][1000 genomes]
rs17024535	0.85[EUR][1000 genomes]
rs17024571	0.94[EUR][1000 genomes]
rs1961771	0.87[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs2043655	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28516597	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28841026	0.85[EUR][1000 genomes]
rs4597837	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56166497	0.83[EUR][1000 genomes]
rs59407834	0.85[EUR][1000 genomes]
rs716720	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73839603	0.83[EUR][1000 genomes]
rs73842171	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7655617	0.85[EUR][1000 genomes]
rs7668426	0.87[EUR][1000 genomes]
rs7681417	0.85[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	nsv830012	chr4:96547783-96746163	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv1844506	chr4:96554889-96704333	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv997304	chr4:96575198-96861349	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv1010830	chr4:96607025-96862878	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv537191	chr4:96607025-96862878	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv594915	chr4:96628653-97086618	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv428767	chr4:96676384-96831793	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 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	chr4:96681800-96683800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:96683400-96684600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr4:96683400-96685400	Weak transcription	HMEC	breast
4	chr4:96683400-96685800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:96683400-96685800	Weak transcription	NHEK	skin

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