Variant report

Variant	rs34188913
Chromosome Location	chr12:124609510-124609511
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:124601171..124602980-chr12:124607988..124610923,3	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11057457	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2087479	0.83[ASN][1000 genomes]
rs2101531	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs395845	0.83[ASN][1000 genomes]
rs4765062	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4765285	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4765294	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs902170	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv455734	chr12:124511908-124772515	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv560538	chr12:124511908-124772515	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv520633	chr12:124548394-124683205	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv1799776	chr12:124594370-124614538	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124601000-124615200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr12:124607600-124609800	Enhancers	Fetal Brain Male	brain
3	chr12:124607600-124610400	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr12:124608200-124609600	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr12:124608200-124610800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:124608400-124609600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr12:124608400-124609600	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr12:124608400-124611600	Weak transcription	Fetal Stomach	stomach
9	chr12:124608400-124614400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr12:124608600-124609600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr12:124608600-124609800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:124608600-124613400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr12:124608800-124615200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr12:124608800-124615200	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr12:124609000-124609600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr12:124609000-124610000	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr12:124609000-124615000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr12:124609000-124615000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr12:124609200-124609600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr12:124609200-124610600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr12:124609200-124610800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr12:124609200-124610800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr12:124609200-124611200	Enhancers	HMEC	breast
24	chr12:124609400-124609600	Flanking Active TSS	GM12878-XiMat	blood
25	chr12:124609400-124609800	Enhancers	Fetal Thymus	thymus
26	chr12:124609400-124609800	Bivalent Enhancer	HepG2	liver
27	chr12:124609400-124611000	Enhancers	NHEK	skin

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