Variant report

Variant	rs72858063
Chromosome Location	chr2:33459915-33459916
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:7)

rs_ID	r²[population]
rs11678479	0.85[EUR][1000 genomes]
rs11682866	0.85[EUR][1000 genomes]
rs11689160	0.85[EUR][1000 genomes]
rs11689377	0.85[EUR][1000 genomes]
rs56195754	0.85[EUR][1000 genomes]
rs58780431	0.90[EUR][1000 genomes]
rs7591896	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998167	chr2:33074313-33541100	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv535623	chr2:33074313-33541100	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1005435	chr2:33136117-33747159	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
4	nsv535624	chr2:33136117-33747159	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
5	nsv873790	chr2:33369582-33466483	Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33403800-33489800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:33442600-33467600	Weak transcription	Ovary	ovary
3	chr2:33442800-33471400	Weak transcription	Psoas Muscle	Psoas
4	chr2:33446600-33461200	Weak transcription	HUVEC	blood vessel
5	chr2:33446800-33461200	Weak transcription	Fetal Lung	lung
6	chr2:33447400-33468200	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr2:33448400-33461400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:33449400-33461400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:33449400-33466200	Weak transcription	Fetal Heart	heart
10	chr2:33449400-33475400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr2:33450800-33461400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr2:33451400-33461200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:33451800-33466200	Weak transcription	Left Ventricle	heart
14	chr2:33455800-33466800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:33455800-33470600	Weak transcription	Fetal Kidney	kidney
16	chr2:33456000-33461400	Weak transcription	NHDF-Ad	bronchial
17	chr2:33456200-33461200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:33456200-33461400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:33456800-33461200	Weak transcription	NH-A	brain
20	chr2:33456800-33461200	Weak transcription	Osteobl	bone
21	chr2:33456800-33463200	Weak transcription	Aorta	Aorta
22	chr2:33457200-33461200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:33457600-33461200	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr2:33459600-33461600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links