Variant report

Variant	rs68091983
Chromosome Location	chr2:133733093-133733094
allele	C/T
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:8)

rs_ID	r²[population]
rs10496696	0.90[EUR][1000 genomes]
rs10928438	0.90[EUR][1000 genomes]
rs16844906	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16844933	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16844985	0.90[EUR][1000 genomes]
rs4953867	0.90[EUR][1000 genomes]
rs72614500	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72614502	0.90[EUR][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	nsv583158	chr2:133316092-133862100	Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv875138	chr2:133410921-133761794	Enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv1002955	chr2:133440142-133743211	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1004604	chr2:133658116-133761794	Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv916805	chr2:133664765-133924973	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv834381	chr2:133722671-133897994	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv834382	chr2:133728399-133891418	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:133714600-133735400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:133726400-133734800	Weak transcription	Brain Anterior Caudate	brain
3	chr2:133730000-133735400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr2:133732000-133733400	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr2:133732000-133733400	Enhancers	Fetal Kidney	kidney
6	chr2:133732000-133733600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:133732200-133733200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr2:133732200-133733800	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr2:133732200-133734000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:133732400-133733600	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr2:133732400-133733800	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr2:133732400-133733800	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr2:133732400-133735600	Weak transcription	NH-A	brain
14	chr2:133732600-133733400	Weak transcription	Fetal Stomach	stomach
15	chr2:133732600-133734800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr2:133732600-133735600	Weak transcription	NHEK	skin
17	chr2:133732800-133733200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr2:133732800-133733200	Enhancers	Colon Smooth Muscle	Colon
19	chr2:133732800-133733800	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr2:133733000-133734000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:133733000-133735800	Weak transcription	Brain Hippocampus Middle	brain

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