Variant report

Variant	rs12426997
Chromosome Location	chr12:57961168-57961169
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	chr12:57959763..57962020-chr12:57967577..57969598,2	MCF-7	breast:
2	chr12:57960912..57962471-chr12:57965156..57967586,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12306667	1.00[EUR][1000 genomes]
rs12313201	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2292656	1.00[ASW][hapmap]
rs4760298	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs4760303	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4760307	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8176350	1.00[LWK][hapmap]
rs8176354	1.00[LWK][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1812398	chr12:57829733-58001868	Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	esv2758310	chr12:57829733-58001868	Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
3	esv2759901	chr12:57829733-58001868	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
4	nsv428283	chr12:57829733-58001868	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
5	nsv559034	chr12:57859932-58012233	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
6	nsv1038741	chr12:57877355-58174506	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
7	nsv541503	chr12:57877355-58174506	Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
8	nsv1053930	chr12:57921188-57969659	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	n/a
9	nsv541504	chr12:57958701-58062311	Bivalent Enhancer Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57947000-57962000	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr12:57950600-57962600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:57950800-57962600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:57955200-57973800	Weak transcription	NH-A	brain
5	chr12:57955400-57963800	Weak transcription	Brain Substantia Nigra	brain
6	chr12:57956600-57980600	Strong transcription	Brain Germinal Matrix	brain
7	chr12:57956800-57973400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr12:57957000-57980800	Strong transcription	Fetal Brain Female	brain
9	chr12:57957200-57979200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:57957600-57962600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr12:57957600-57963400	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr12:57957800-57965000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr12:57958000-57965000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:57958200-57965800	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr12:57958400-57962600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:57958600-57962600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr12:57958600-57962600	Weak transcription	Aorta	Aorta
18	chr12:57958800-57962000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr12:57958800-57962000	Weak transcription	Brain Hippocampus Middle	brain
20	chr12:57958800-57962400	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr12:57958800-57962600	Weak transcription	Brain Angular Gyrus	brain
22	chr12:57958800-57962600	Weak transcription	K562	blood
23	chr12:57958800-57962800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr12:57958800-57965800	Weak transcription	Gastric	stomach
25	chr12:57958800-57970200	Weak transcription	Fetal Brain Male	brain
26	chr12:57959000-57962000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr12:57960200-57961400	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr12:57960200-57967600	Strong transcription	H1 Cell Line	embryonic stem cell
29	chr12:57960400-57967600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr12:57960400-57972400	Weak transcription	Rectal Smooth Muscle	rectum
31	chr12:57960600-57967400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr12:57960600-57967800	Weak transcription	NHLF	lung
33	chr12:57960800-57967200	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr12:57960800-57967200	Strong transcription	Brain Anterior Caudate	brain
35	chr12:57960800-57967800	Strong transcription	H9 Cell Line	embryonic stem cell
36	chr12:57961000-57961400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr12:57961000-57961400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr12:57961000-57963800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
39	chr12:57961000-57966800	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr12:57961000-57967600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr12:57961000-57967600	Strong transcription	Brain Cingulate Gyrus	brain
42	chr12:57961000-57982000	Weak transcription	Right Atrium	heart

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