Variant report

Variant	rs74100006
Chromosome Location	chr1:80629490-80629491
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:80624318..80626596-chr1:80627891..80630503,3	MCF-7	breast:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11801335	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11801369	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11803224	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11810395	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58403890	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59492464	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61425207	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61649244	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72941761	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72941767	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72943531	0.92[AFR][1000 genomes]
rs72943545	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72943547	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74097200	0.81[AFR][1000 genomes]
rs74100011	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7536176	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012286	chr1:80057078-81005153	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv535018	chr1:80057078-81005153	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1000792	chr1:80076146-81015283	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv462184	chr1:80297950-80731568	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv546645	chr1:80297950-80731568	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv870523	chr1:80486347-80662898	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1012630	chr1:80496394-80761197	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv871201	chr1:80498496-80631231	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv871492	chr1:80498496-80641525	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv871009	chr1:80532438-80656114	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv546657	chr1:80535488-80641525	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
12	nsv462217	chr1:80536798-80683606	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv546658	chr1:80536798-80683606	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv462228	chr1:80537217-80631231	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
15	nsv462239	chr1:80537217-80631231	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
16	nsv546659	chr1:80537217-80631231	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
17	nsv462250	chr1:80537217-80731568	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
18	nsv546660	chr1:80537217-80731568	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
19	nsv528189	chr1:80613215-80631231	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a
20	nsv947188	chr1:80627503-80650783	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:80625200-80630000	Weak transcription	Fetal Brain Male	brain
2	chr1:80628800-80629600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:80628800-80629600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:80629200-80629600	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr1:80629200-80629600	Enhancers	H9 Cell Line	embryonic stem cell
6	chr1:80629200-80629600	Enhancers	Fetal Brain Female	brain

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