Variant report

Variant	rs73934995
Chromosome Location	chr2:64054715-64054716
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:64053178..64056062-chr2:64067220..64068754,2	MCF-7	breast:
2	chr2:64052304..64056068-chr2:64066396..64069697,6	K562	blood:
3	chr2:64053563..64056956-chr2:64065611..64068830,7	K562	blood:
4	chr2:64052299..64060510-chr2:64066102..64071144,11	MCF-7	breast:

Variant related genes	Relation type
ENSG00000169764	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11895799	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11902838	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4493246	1.00[AMR][1000 genomes]
rs56353821	0.89[AFR][1000 genomes]
rs56679885	1.00[AMR][1000 genomes]
rs57170440	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57562367	1.00[AMR][1000 genomes]
rs57724389	1.00[AMR][1000 genomes]
rs58127300	1.00[AMR][1000 genomes]
rs59148046	1.00[AMR][1000 genomes]
rs59886198	1.00[AMR][1000 genomes]
rs61110897	1.00[AMR][1000 genomes]
rs6716251	1.00[AMR][1000 genomes]
rs6726629	0.98[AFR][1000 genomes]
rs6749163	1.00[AMR][1000 genomes]
rs6749188	1.00[AMR][1000 genomes]
rs73934987	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73934992	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73937270	0.91[AFR][1000 genomes]
rs73937430	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73937432	1.00[AMR][1000 genomes]
rs7564727	0.83[AFR][1000 genomes]
rs7564984	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7574047	1.00[AMR][1000 genomes]
rs7574933	1.00[AMR][1000 genomes]
rs7593707	1.00[AMR][1000 genomes]
rs7596420	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013375	chr2:63969820-64231550	ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64044200-64054800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:64046800-64055000	Weak transcription	Colon Smooth Muscle	Colon
3	chr2:64047200-64054800	Weak transcription	Left Ventricle	heart
4	chr2:64047200-64055000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr2:64047800-64066600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:64048600-64054800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr2:64048600-64054800	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr2:64048600-64054800	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr2:64048800-64054800	Weak transcription	Psoas Muscle	Psoas
10	chr2:64049400-64054800	Weak transcription	Liver	Liver
11	chr2:64052800-64054800	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr2:64053000-64054800	Active TSS	Adipose Nuclei	Adipose
13	chr2:64053200-64064400	Weak transcription	Aorta	Aorta
14	chr2:64053400-64059200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr2:64053600-64055800	Enhancers	Muscle Satellite Cultured Cells	--
16	chr2:64053800-64055000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:64054000-64055800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:64054200-64055000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:64054200-64055400	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr2:64054200-64056600	Enhancers	HSMM	muscle
21	chr2:64054400-64055800	Enhancers	NHLF	lung
22	chr2:64054400-64055800	Enhancers	Osteobl	bone
23	chr2:64054400-64056000	Enhancers	HepG2	liver
24	chr2:64054400-64056000	Enhancers	NHDF-Ad	bronchial
25	chr2:64054600-64054800	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr2:64054600-64055000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:64054600-64055400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr2:64054600-64055400	Enhancers	Fetal Heart	heart
29	chr2:64054600-64055600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr2:64054600-64055800	Enhancers	NHEK	skin
31	chr2:64054600-64056600	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr2:64054600-64056600	Enhancers	HSMMtube	muscle

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