Variant report

Variant	rs72916266
Chromosome Location	chr2:72985435-72985436
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs17008225	1.00[EUR][1000 genomes]
rs56996879	1.00[EUR][1000 genomes]
rs60292098	1.00[EUR][1000 genomes]
rs61426399	1.00[EUR][1000 genomes]
rs6712130	1.00[EUR][1000 genomes]
rs6753198	1.00[EUR][1000 genomes]
rs6756853	1.00[EUR][1000 genomes]
rs72916280	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72918394	1.00[EUR][1000 genomes]
rs72918396	1.00[EUR][1000 genomes]
rs72918397	1.00[EUR][1000 genomes]
rs72918398	1.00[EUR][1000 genomes]
rs72920409	1.00[EUR][1000 genomes]
rs72920414	1.00[EUR][1000 genomes]
rs72920416	1.00[EUR][1000 genomes]
rs7558143	1.00[EUR][1000 genomes]
rs7560421	1.00[EUR][1000 genomes]
rs7593530	1.00[EUR][1000 genomes]
rs7599245	1.00[EUR][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	nsv834259	chr2:72941118-73114106	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72923000-73008600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:72938200-72987800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:72976000-72988400	Weak transcription	Fetal Lung	lung
4	chr2:72981400-73000800	Weak transcription	Pancreas	Pancrea
5	chr2:72982200-72985800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:72982200-72987600	Enhancers	Fetal Heart	heart
7	chr2:72982800-72988800	Weak transcription	Fetal Stomach	stomach
8	chr2:72983000-72989000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:72983200-72988600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr2:72983200-72997800	Weak transcription	Brain Hippocampus Middle	brain
11	chr2:72983200-72999200	Weak transcription	Left Ventricle	heart
12	chr2:72983400-72986200	Weak transcription	Brain Substantia Nigra	brain
13	chr2:72983400-72986600	Weak transcription	Right Ventricle	heart
14	chr2:72983800-72990200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr2:72984000-72990400	Weak transcription	NH-A	brain
16	chr2:72984200-72992800	Weak transcription	HSMM	muscle
17	chr2:72984600-72986800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:72984800-72993200	Weak transcription	Osteobl	bone
19	chr2:72985000-72988000	Weak transcription	Fetal Intestine Small	intestine
20	chr2:72985200-72985600	Enhancers	A549	lung
21	chr2:72985200-72986000	Weak transcription	Stomach Mucosa	stomach
22	chr2:72985200-72986400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr2:72985200-72987600	Enhancers	HepG2	liver
24	chr2:72985200-72988000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:72985200-72990000	Weak transcription	NHEK	skin
26	chr2:72985200-72990200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr2:72985200-72990600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr2:72985200-72994200	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr2:72985200-73008400	Weak transcription	Right Atrium	heart
30	chr2:72985200-73015800	Weak transcription	Ovary	ovary
31	chr2:72985400-72986000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links