Variant report

Variant	rs73943193
Chromosome Location	chr2:72742785-72742786
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs57194904	0.90[AFR][1000 genomes]
rs57897982	0.90[AFR][1000 genomes]
rs58912718	0.90[AFR][1000 genomes]
rs59017136	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73943194	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv963919	chr2:72372956-72830387	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1005487	chr2:72464784-72819704	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv999179	chr2:72561463-72761103	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1008335	chr2:72561463-72819704	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv874264	chr2:72593243-72901170	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv582208	chr2:72690622-72835886	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv834257	chr2:72701083-72853548	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72699600-72744600	Weak transcription	Liver	Liver
2	chr2:72702600-72743600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr2:72703200-72742800	Weak transcription	HSMM	muscle
4	chr2:72703200-72743000	Weak transcription	Pancreas	Pancrea
5	chr2:72703200-72743400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr2:72703200-72743800	Weak transcription	Brain Anterior Caudate	brain
7	chr2:72703400-72744200	Weak transcription	A549	lung
8	chr2:72703400-72752200	Weak transcription	Duodenum Mucosa	Duodenum
9	chr2:72703600-72745000	Weak transcription	Fetal Intestine Large	intestine
10	chr2:72707800-72742800	Weak transcription	Fetal Heart	heart
11	chr2:72708000-72744600	Weak transcription	Fetal Lung	lung
12	chr2:72719200-72745600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:72725400-72743000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:72725600-72743000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr2:72725800-72743600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:72727000-72743600	Weak transcription	Adipose Nuclei	Adipose
17	chr2:72729800-72742800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr2:72731400-72743000	Weak transcription	Left Ventricle	heart
19	chr2:72736600-72751000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:72737200-72742800	Weak transcription	Ovary	ovary
21	chr2:72739000-72745000	Weak transcription	HepG2	liver
22	chr2:72739400-72742800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr2:72740800-72743000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:72741400-72743800	Weak transcription	Brain Angular Gyrus	brain
25	chr2:72741400-72760600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr2:72742400-72743200	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr2:72742400-72743800	Enhancers	Brain Hippocampus Middle	brain
28	chr2:72742600-72742800	Enhancers	Brain Cingulate Gyrus	brain
29	chr2:72742600-72743000	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr2:72742600-72744400	Enhancers	Brain Substantia Nigra	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links