Variant report

Variant	rs73986164
Chromosome Location	chr2:211287294-211287295
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs57954554	1.00[AMR][1000 genomes]
rs58196028	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60058629	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73986165	1.00[AMR][1000 genomes]
rs73986166	1.00[AFR][1000 genomes];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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:211286200-211288800	Enhancers	Fetal Heart	heart
2	chr2:211286400-211287400	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr2:211286400-211287400	Enhancers	Primary hematopoietic stem cells	blood
4	chr2:211286400-211287400	Enhancers	HSMM	muscle
5	chr2:211286400-211287400	Enhancers	HSMMtube	muscle
6	chr2:211286400-211287400	Enhancers	NH-A	brain
7	chr2:211286400-211287800	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr2:211286600-211287600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr2:211286800-211287400	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr2:211286800-211287400	Enhancers	Psoas Muscle	Psoas
11	chr2:211286800-211287600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr2:211287000-211287400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:211287000-211287600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr2:211287000-211291200	Weak transcription	Ovary	ovary
15	chr2:211287000-211292400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:211287000-211294200	Weak transcription	Brain Angular Gyrus	brain
17	chr2:211287200-211287600	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr2:211287200-211291000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr2:211287200-211292800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:211287200-211298200	Weak transcription	HMEC	breast
21	chr2:211287200-211299200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr2:211287200-211299600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links