Variant report

Variant	rs11052034
Chromosome Location	chr12:32659750-32659751
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:32550963..32552708-chr12:32659377..32661100,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139132	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10743797	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs11052032	0.85[AFR][1000 genomes]
rs11052044	0.86[EUR][1000 genomes]
rs12579931	0.91[YRI][hapmap]
rs16919947	0.86[JPT][hapmap]
rs16919964	0.86[JPT][hapmap]
rs16919969	0.86[JPT][hapmap]
rs1875311	0.85[JPT][hapmap]
rs4931632	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7295095	0.81[TSI][hapmap]
rs7308334	0.88[EUR][1000 genomes]
rs7963397	0.82[LWK][hapmap];0.82[MKK][hapmap];0.95[YRI][hapmap];0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531960	chr12:32257285-32775277	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	esv2751096	chr12:32280340-32702784	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv1054191	chr12:32534619-32733066	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv541455	chr12:32534619-32733066	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	esv3342938	chr12:32551041-32716745	Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv898970	chr12:32622097-32680236	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	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
rs11052034	SYT10	cis	parietal	SCAN

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32649000-32660800	Weak transcription	Thymus	Thymus
2	chr12:32655200-32661600	Weak transcription	Spleen	Spleen
3	chr12:32655200-32686000	Weak transcription	Lung	lung
4	chr12:32655400-32661000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr12:32656000-32661000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr12:32656000-32666000	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr12:32656000-32668000	Weak transcription	Fetal Thymus	thymus
8	chr12:32656200-32659800	Enhancers	H1 Cell Line	embryonic stem cell
9	chr12:32656200-32662600	Weak transcription	HepG2	liver
10	chr12:32656200-32668000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr12:32656400-32659800	Enhancers	Fetal Lung	lung
12	chr12:32656400-32660000	Enhancers	Fetal Intestine Small	intestine
13	chr12:32656400-32685800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr12:32656800-32659800	Enhancers	Fetal Intestine Large	intestine
15	chr12:32657000-32661000	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr12:32657000-32661800	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr12:32657200-32659800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr12:32657200-32662200	Enhancers	Fetal Heart	heart
19	chr12:32657400-32659800	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr12:32657400-32661400	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr12:32658200-32659800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:32658400-32660400	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr12:32658400-32660800	Weak transcription	Brain Angular Gyrus	brain
24	chr12:32658400-32660800	Weak transcription	Right Ventricle	heart
25	chr12:32658400-32661000	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr12:32658600-32659800	Enhancers	Brain Anterior Caudate	brain
27	chr12:32658600-32659800	Enhancers	Brain Hippocampus Middle	brain
28	chr12:32658600-32660800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr12:32658600-32667800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr12:32658600-32682000	Weak transcription	Fetal Muscle Trunk	muscle
31	chr12:32658800-32660800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr12:32659000-32659800	Enhancers	Gastric	stomach
33	chr12:32659000-32660000	Enhancers	HUVEC	blood vessel
34	chr12:32659000-32660400	Weak transcription	Stomach Mucosa	stomach
35	chr12:32659200-32659800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr12:32659200-32659800	Enhancers	Fetal Brain Male	brain
37	chr12:32659200-32660400	Weak transcription	Adipose Nuclei	Adipose
38	chr12:32659200-32660800	Weak transcription	Brain Substantia Nigra	brain
39	chr12:32659200-32664400	Weak transcription	NHEK	skin
40	chr12:32659400-32660000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr12:32659400-32660200	Weak transcription	Brain Cingulate Gyrus	brain
42	chr12:32659400-32660400	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr12:32659400-32660400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr12:32659400-32660400	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr12:32659400-32660600	Enhancers	Primary neutrophils fromperipheralblood	blood
46	chr12:32659400-32660800	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr12:32659400-32665800	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr12:32659400-32667000	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr12:32659600-32660200	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr12:32659600-32660600	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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