Variant report

Variant	rs11693982
Chromosome Location	chr2:134328098-134328099
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12477510	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12691837	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12691838	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs13002374	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1347043	0.90[CHB][hapmap];0.83[YRI][hapmap];0.85[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs1816382	0.88[ASW][hapmap];0.82[CEU][hapmap];0.86[CHB][hapmap];0.89[CHD][hapmap];0.88[GIH][hapmap];0.83[MEX][hapmap];0.89[MKK][hapmap];0.83[YRI][hapmap];0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4954067	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56296323	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs891821	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs978098	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11693982	MZT2B	cis	cerebellum	SCAN

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:134324400-134329000	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr2:134324600-134328600	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr2:134324600-134329600	Enhancers	H1 Cell Line	embryonic stem cell
4	chr2:134324600-134330400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:134325000-134330000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:134325000-134342400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:134325200-134329000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr2:134325400-134331800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:134326000-134328200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr2:134326200-134329600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:134326200-134329800	Weak transcription	Esophagus	oesophagus
12	chr2:134326200-134337000	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr2:134326400-134328200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr2:134326400-134328200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr2:134326400-134328800	Enhancers	Fetal Kidney	kidney
16	chr2:134326400-134329800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:134326400-134330400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr2:134326400-134331800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:134326400-134331800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:134326400-134332400	Weak transcription	Right Atrium	heart
21	chr2:134326400-134334200	Weak transcription	Liver	Liver
22	chr2:134326400-134336200	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr2:134326400-134337000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr2:134326600-134328200	Weak transcription	Fetal Intestine Large	intestine
25	chr2:134326600-134328400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:134326600-134331000	Weak transcription	Brain Hippocampus Middle	brain
27	chr2:134326600-134331800	Weak transcription	HUVEC	blood vessel
28	chr2:134326600-134334000	Weak transcription	NHEK	skin
29	chr2:134326600-134334200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:134326600-134334600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr2:134326600-134336000	Weak transcription	Brain Anterior Caudate	brain
32	chr2:134326600-134344200	Weak transcription	Brain Cingulate Gyrus	brain
33	chr2:134326800-134332400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr2:134327000-134328800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr2:134327200-134331000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr2:134327200-134331400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr2:134327200-134331800	Weak transcription	Brain Substantia Nigra	brain
38	chr2:134327200-134332400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr2:134327400-134329000	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr2:134327400-134331800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr2:134327400-134332000	Weak transcription	NH-A	brain
42	chr2:134327600-134328400	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr2:134327600-134331000	Weak transcription	Fetal Heart	heart
44	chr2:134327800-134328400	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr2:134327800-134328600	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr2:134327800-134328600	Enhancers	Fetal Intestine Small	intestine
47	chr2:134328000-134330200	Enhancers	HUES64 Cell Line	embryonic stem cell

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