Variant report

Variant	rs72996109
Chromosome Location	chr2:134344897-134344898
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs57893181	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58043268	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59731226	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72994270	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs72994274	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72994291	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72994298	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997821	chr2:133868822-134360220	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv535927	chr2:133868822-134360220	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1003624	chr2:134126928-134583203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1006101	chr2:134263288-134973917	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
5	nsv516644	chr2:134301130-134391214	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv431713	chr2:134316522-134413604	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1013713	chr2:134322236-134644574	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv535931	chr2:134322236-134644574	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:134339200-134348400	Weak transcription	Right Ventricle	heart
2	chr2:134340000-134347000	Weak transcription	NH-A	brain
3	chr2:134342400-134345400	Enhancers	Fetal Heart	heart
4	chr2:134342800-134346000	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr2:134343000-134348400	Weak transcription	Brain Anterior Caudate	brain
6	chr2:134343600-134345400	Enhancers	Brain Substantia Nigra	brain
7	chr2:134343800-134345000	Enhancers	Aorta	Aorta
8	chr2:134343800-134345000	Enhancers	Gastric	stomach
9	chr2:134343800-134345000	Enhancers	Right Atrium	heart
10	chr2:134343800-134345400	Enhancers	Esophagus	oesophagus
11	chr2:134343800-134345600	Enhancers	NHEK	skin
12	chr2:134343800-134345800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:134344000-134345000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:134344000-134345400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:134344000-134345400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:134344000-134345400	Enhancers	HMEC	breast
17	chr2:134344000-134345600	Enhancers	Osteobl	bone
18	chr2:134344000-134348600	Weak transcription	Brain Angular Gyrus	brain
19	chr2:134344200-134345000	Enhancers	Left Ventricle	heart
20	chr2:134344200-134345000	Enhancers	Stomach Mucosa	stomach
21	chr2:134344200-134345400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:134344200-134345400	Enhancers	Brain Cingulate Gyrus	brain
23	chr2:134344400-134345200	Enhancers	Brain Hippocampus Middle	brain
24	chr2:134344600-134345000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:134344600-134345400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:134344800-134345000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:134344800-134345200	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr2:134344800-134345200	Enhancers	Fetal Muscle Leg	muscle
29	chr2:134344800-134345400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr2:134344800-134345400	Enhancers	Fetal Kidney	kidney
31	chr2:134344800-134345400	Enhancers	NHDF-Ad	bronchial
32	chr2:134344800-134345600	Enhancers	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