Variant report

Variant	rs73083814
Chromosome Location	chr2:212231116-212231117
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:212229635..212231733-chr2:212236434..212239160,2	MCF-7	breast:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10205509	1.00[EUR][1000 genomes]
rs10221912	1.00[EUR][1000 genomes]
rs10427172	0.80[AFR][1000 genomes]
rs11885425	1.00[EUR][1000 genomes]
rs11887436	1.00[EUR][1000 genomes]
rs11895530	1.00[EUR][1000 genomes]
rs13386225	1.00[EUR][1000 genomes]
rs13390068	1.00[EUR][1000 genomes]
rs13392814	1.00[EUR][1000 genomes]
rs13423759	1.00[EUR][1000 genomes]
rs16846146	1.00[EUR][1000 genomes]
rs1821661	0.82[AFR][1000 genomes]
rs55633073	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56172792	0.93[AFR][1000 genomes]
rs58121273	1.00[EUR][1000 genomes]
rs58853206	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59197841	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61241208	1.00[EUR][1000 genomes]
rs66600814	1.00[AFR][1000 genomes]
rs6712900	1.00[EUR][1000 genomes]
rs72947641	0.85[AFR][1000 genomes]
rs73081796	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73081798	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73083806	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73083810	0.80[AFR][1000 genomes]
rs73083812	0.91[AFR][1000 genomes]
rs73083815	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73083827	0.88[AFR][1000 genomes]
rs73985404	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73985405	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73988843	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7567117	1.00[EUR][1000 genomes]
rs7569828	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7586570	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7595889	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834523	chr2:212163236-212331393	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
2	nsv875776	chr2:212196908-212264818	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:212214200-212232000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:212225800-212232000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:212227200-212232400	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr2:212230200-212232400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:212230400-212232400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr2:212231000-212232200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr2:212231000-212232400	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr2:212231000-212232600	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr2:212231000-212232600	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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