Variant report

Variant	rs34493162
Chromosome Location	chr12:31605094-31605095
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:31477161..31478996-chr12:31603286..31605266,2	K562	blood:

Variant related genes	Relation type
ENSG00000139146	Chromatin interaction
ENSG00000177340	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs56218623	1.00[AMR][1000 genomes]
rs73076465	0.81[AFR][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	nsv1041877	chr12:31009451-31809254	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv541440	chr12:31009451-31809254	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	esv2751046	chr12:31174233-31684733	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv832364	chr12:31467990-31648144	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
5	esv1836923	chr12:31539122-31761172	Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31536400-31624600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:31542400-31645000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr12:31542600-31605800	Weak transcription	Colon Smooth Muscle	Colon
4	chr12:31549800-31618000	Weak transcription	Pancreas	Pancrea
5	chr12:31557200-31623600	Weak transcription	Hela-S3	cervix
6	chr12:31562400-31620600	Weak transcription	Brain Angular Gyrus	brain
7	chr12:31562400-31644400	Weak transcription	Brain Substantia Nigra	brain
8	chr12:31567400-31635800	Weak transcription	Osteobl	bone
9	chr12:31567800-31642800	Weak transcription	Brain Hippocampus Middle	brain
10	chr12:31572000-31612600	Weak transcription	HSMM	muscle
11	chr12:31572000-31631200	Weak transcription	Fetal Muscle Trunk	muscle
12	chr12:31572000-31631200	Weak transcription	HSMMtube	muscle
13	chr12:31572400-31620200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr12:31572400-31627400	Weak transcription	Brain Cingulate Gyrus	brain
15	chr12:31572400-31628400	Weak transcription	Right Ventricle	heart
16	chr12:31572400-31631200	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr12:31577800-31649400	Weak transcription	Stomach Smooth Muscle	stomach
18	chr12:31579000-31632000	Weak transcription	Duodenum Mucosa	Duodenum
19	chr12:31579200-31611800	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr12:31579400-31626400	Weak transcription	Left Ventricle	heart
21	chr12:31579400-31632000	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr12:31579600-31612400	Weak transcription	Fetal Brain Female	brain
23	chr12:31583400-31662000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:31585000-31631600	Weak transcription	Brain Anterior Caudate	brain
25	chr12:31585000-31642000	Weak transcription	Fetal Kidney	kidney
26	chr12:31585200-31620200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr12:31585400-31631800	Weak transcription	Fetal Lung	lung
28	chr12:31586200-31635800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr12:31588000-31615400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr12:31592000-31615000	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr12:31594000-31606400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr12:31594400-31648400	Weak transcription	Small Intestine	intestine
33	chr12:31596800-31607000	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr12:31598000-31615000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr12:31598200-31615000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr12:31598600-31618000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr12:31600200-31626400	Weak transcription	Primary hematopoietic stem cells	blood
38	chr12:31600600-31619600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr12:31600600-31630400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr12:31600600-31632000	Weak transcription	Brain Germinal Matrix	brain
41	chr12:31600800-31631600	Weak transcription	Adipose Nuclei	Adipose
42	chr12:31601600-31609000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr12:31602000-31606600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr12:31602600-31605600	Strong transcription	Fetal Intestine Small	intestine
45	chr12:31603000-31606800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr12:31603000-31607400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr12:31603200-31605600	Strong transcription	GM12878-XiMat	blood
48	chr12:31603400-31605200	Strong transcription	Fetal Intestine Large	intestine
49	chr12:31603400-31605600	ZNF genes & repeats	A549	lung
50	chr12:31603400-31610200	Strong transcription	Primary B cells from peripheral blood	blood

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