Variant report

Variant	rs73069742
Chromosome Location	chr2:211286893-211286894
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1468957	1.00[EUR][1000 genomes]
rs16844452	1.00[EUR][1000 genomes]
rs16844505	1.00[EUR][1000 genomes]
rs16844536	1.00[EUR][1000 genomes]
rs16844550	1.00[EUR][1000 genomes]
rs16844551	1.00[EUR][1000 genomes]
rs16844579	1.00[EUR][1000 genomes]
rs16844625	1.00[EUR][1000 genomes]
rs2098502	1.00[EUR][1000 genomes]
rs4263061	1.00[EUR][1000 genomes]
rs59821750	1.00[EUR][1000 genomes]
rs60428496	1.00[EUR][1000 genomes]
rs60981818	1.00[EUR][1000 genomes]
rs61291087	1.00[EUR][1000 genomes]
rs6713369	1.00[EUR][1000 genomes]
rs6721139	1.00[EUR][1000 genomes]
rs6742717	1.00[EUR][1000 genomes]
rs6743023	1.00[EUR][1000 genomes]
rs6745362	1.00[EUR][1000 genomes]
rs73069777	1.00[EUR][1000 genomes]
rs73069798	1.00[EUR][1000 genomes]
rs73071716	1.00[EUR][1000 genomes]
rs73071719	1.00[EUR][1000 genomes]
rs73071732	1.00[EUR][1000 genomes]
rs73071736	1.00[EUR][1000 genomes]
rs73984617	1.00[EUR][1000 genomes]
rs7560638	1.00[EUR][1000 genomes]
rs7569730	1.00[EUR][1000 genomes]
rs7571548	1.00[EUR][1000 genomes]
rs7571893	1.00[EUR][1000 genomes]
rs7600777	1.00[EUR][1000 genomes]
rs7600898	1.00[EUR][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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:211286200-211288800	Enhancers	Fetal Heart	heart
2	chr2:211286400-211287000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:211286400-211287000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:211286400-211287200	Enhancers	Brain Substantia Nigra	brain
5	chr2:211286400-211287200	Enhancers	HMEC	breast
6	chr2:211286400-211287400	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr2:211286400-211287400	Enhancers	Primary hematopoietic stem cells	blood
8	chr2:211286400-211287400	Enhancers	HSMM	muscle
9	chr2:211286400-211287400	Enhancers	HSMMtube	muscle
10	chr2:211286400-211287400	Enhancers	NH-A	brain
11	chr2:211286400-211287800	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr2:211286600-211287000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr2:211286600-211287000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr2:211286600-211287000	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr2:211286600-211287000	Enhancers	Right Atrium	heart
16	chr2:211286600-211287200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:211286600-211287200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:211286600-211287200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:211286600-211287200	Enhancers	Brain Hippocampus Middle	brain
20	chr2:211286600-211287200	Enhancers	Placenta	Placenta
21	chr2:211286600-211287600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr2:211286800-211287000	Enhancers	Brain Angular Gyrus	brain
23	chr2:211286800-211287000	Enhancers	Brain Anterior Caudate	brain
24	chr2:211286800-211287000	Enhancers	Ovary	ovary
25	chr2:211286800-211287200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr2:211286800-211287200	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr2:211286800-211287400	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr2:211286800-211287400	Enhancers	Psoas Muscle	Psoas
29	chr2:211286800-211287600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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