Variant report

Variant	rs73040474
Chromosome Location	chr2:189323308-189323309
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12615395	1.00[AFR][1000 genomes]
rs73036454	1.00[AMR][1000 genomes]
rs73040414	1.00[AMR][1000 genomes]
rs73040470	1.00[AMR][1000 genomes]
rs73040477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73040488	1.00[AMR][1000 genomes]
rs73040495	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73042403	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73042416	1.00[AMR][1000 genomes]
rs73042422	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534341	chr2:189200405-189368467	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv533786	chr2:189248503-189354495	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv584055	chr2:189266823-189493686	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189306600-189339000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:189314600-189323400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr2:189316000-189324800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr2:189317200-189324000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
5	chr2:189317600-189329400	Weak transcription	Ovary	ovary
6	chr2:189319200-189325600	Weak transcription	Fetal Lung	lung
7	chr2:189319200-189327000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr2:189319400-189343400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr2:189321000-189323800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
10	chr2:189321600-189324000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr2:189321600-189325400	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr2:189321600-189329000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr2:189321600-189330000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:189321800-189327000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr2:189321800-189339000	Weak transcription	Fetal Stomach	stomach
16	chr2:189322000-189323600	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr2:189322000-189329000	Weak transcription	Gastric	stomach
18	chr2:189322400-189330400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:189322800-189324000	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr2:189323000-189325400	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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