Variant report

Variant	rs73102327
Chromosome Location	chr1:227524335-227524336
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:227509361..227511694-chr1:227523759..227526686,3	K562	blood:
2	chr1:227505790..227507447-chr1:227523662..227526046,2	MCF-7	breast:
3	chr1:227504519..227508787-chr1:227521188..227524866,7	K562	blood:
4	chr1:227504978..227507642-chr1:227523081..227525198,2	MCF-7	breast:
5	chr1:227515846..227518082-chr1:227521897..227524697,2	MCF-7	breast:
6	chr1:227502332..227510114-chr1:227516981..227526964,21	K562	blood:

Variant related genes	Relation type
ENSG00000143776	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs11799772	1.00[AMR][1000 genomes]
rs11802810	1.00[AMR][1000 genomes]
rs11807166	1.00[EUR][1000 genomes]
rs11807555	1.00[EUR][1000 genomes]
rs11807766	1.00[EUR][1000 genomes]
rs11808370	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11808613	1.00[EUR][1000 genomes]
rs11810240	0.85[AMR][1000 genomes]
rs11810417	1.00[EUR][1000 genomes]
rs11811413	0.85[AMR][1000 genomes]
rs1355816	1.00[EUR][1000 genomes]
rs16847506	1.00[EUR][1000 genomes]
rs16847771	0.85[AMR][1000 genomes]
rs34942855	0.83[AMR][1000 genomes]
rs35099852	1.00[EUR][1000 genomes]
rs4364839	1.00[EUR][1000 genomes]
rs4495663	1.00[AMR][1000 genomes]
rs56897207	1.00[AMR][1000 genomes]
rs57660509	1.00[EUR][1000 genomes]
rs57717956	1.00[EUR][1000 genomes]
rs57895961	1.00[EUR][1000 genomes]
rs58077821	1.00[EUR][1000 genomes]
rs58582199	0.85[AMR][1000 genomes]
rs59198448	0.85[AMR][1000 genomes]
rs60039374	1.00[EUR][1000 genomes]
rs60423930	1.00[EUR][1000 genomes]
rs60906739	1.00[EUR][1000 genomes]
rs61494318	1.00[EUR][1000 genomes]
rs61510060	0.83[AMR][1000 genomes]
rs61588040	1.00[EUR][1000 genomes]
rs6688385	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6696713	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6699740	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73086744	1.00[EUR][1000 genomes]
rs73088692	1.00[EUR][1000 genomes]
rs73090609	1.00[EUR][1000 genomes]
rs73090689	1.00[EUR][1000 genomes]
rs73092512	1.00[EUR][1000 genomes]
rs73094358	1.00[EUR][1000 genomes]
rs73094365	1.00[EUR][1000 genomes]
rs73094366	1.00[EUR][1000 genomes]
rs73094390	1.00[EUR][1000 genomes]
rs73096314	1.00[EUR][1000 genomes]
rs73098345	1.00[EUR][1000 genomes]
rs73098350	1.00[EUR][1000 genomes]
rs73098391	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73100303	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73102326	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73102341	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73102365	1.00[AMR][1000 genomes]
rs73102377	1.00[AMR][1000 genomes]
rs73102383	0.85[AMR][1000 genomes]
rs73102965	1.00[EUR][1000 genomes]
rs74140179	0.85[AMR][1000 genomes]
rs74143320	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003656	chr1:227034700-227559665	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv535318	chr1:227034700-227559665	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv534002	chr1:227315186-228047108	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
4	nsv873242	chr1:227371906-227579344	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv549271	chr1:227411003-227581017	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv1001353	chr1:227474785-227660691	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227521600-227531400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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