Variant report

Variant	rs73069754
Chromosome Location	chr2:211291781-211291782
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11884102	1.00[AMR][1000 genomes]
rs11884181	1.00[AMR][1000 genomes]
rs57335323	1.00[AMR][1000 genomes]
rs58211283	1.00[AMR][1000 genomes]
rs59537642	1.00[AMR][1000 genomes]
rs60412797	1.00[AMR][1000 genomes]
rs73067660	1.00[AMR][1000 genomes]
rs73067699	1.00[AMR][1000 genomes]
rs73069732	1.00[AMR][1000 genomes]
rs73069733	1.00[AMR][1000 genomes]
rs73069739	1.00[AMR][1000 genomes]
rs73069746	1.00[AMR][1000 genomes]
rs73069755	1.00[AMR][1000 genomes]
rs73069756	1.00[AMR][1000 genomes]
rs73069760	1.00[AMR][1000 genomes]
rs73069766	1.00[AMR][1000 genomes]
rs73069772	1.00[AMR][1000 genomes]
rs73069773	1.00[AMR][1000 genomes]
rs73069774	1.00[AMR][1000 genomes]
rs73069775	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73069776	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73069781	1.00[AMR][1000 genomes]
rs73071705	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73073540	1.00[AMR][1000 genomes]
rs73073545	1.00[AMR][1000 genomes]
rs73073546	1.00[AMR][1000 genomes]
rs73073547	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	nsv1012567	chr2:211087588-211315554	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv875767	chr2:211119233-211334647	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv3147	chr2:211281479-211326844	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:211287000-211292400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:211287000-211294200	Weak transcription	Brain Angular Gyrus	brain
3	chr2:211287200-211292800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:211287200-211298200	Weak transcription	HMEC	breast
5	chr2:211287200-211299200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:211287200-211299600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:211287400-211293000	Weak transcription	HSMMtube	muscle
8	chr2:211287400-211296000	Weak transcription	HSMM	muscle
9	chr2:211287400-211297800	Weak transcription	NH-A	brain
10	chr2:211287800-211292800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr2:211287800-211295600	Weak transcription	Brain Anterior Caudate	brain
12	chr2:211288400-211296600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:211290600-211293200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr2:211290600-211299000	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr2:211291200-211293200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
16	chr2:211291200-211294200	Weak transcription	Fetal Heart	heart
17	chr2:211291400-211292200	Weak transcription	Fetal Muscle Trunk	muscle
18	chr2:211291400-211293000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:211291400-211297200	Weak transcription	Ovary	ovary
20	chr2:211291400-211299400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:211291600-211295200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr2:211291600-211295800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:211291600-211296000	Weak transcription	NHDF-Ad	bronchial
24	chr2:211291600-211296400	Weak transcription	Osteobl	bone
25	chr2:211291600-211299000	Weak transcription	Lung	lung
26	chr2:211291600-211300800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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