Variant report

Variant	rs12308344
Chromosome Location	chr12:83268776-83268777
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	chr12:83268692..83270482-chr12:83272370..83274630,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11115468	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12301076	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12301350	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12316130	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59508042	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053093	chr12:82645292-83287809	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv541551	chr12:82645292-83287809	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv427917	chr12:82917031-83279712	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv521849	chr12:83013783-83991479	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv469490	chr12:83089431-83507269	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv559542	chr12:83089431-83507269	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
7	esv2758315	chr12:83101045-83357621	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv2759911	chr12:83101045-83357621	Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv430520	chr12:83166956-83271602	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
10	nsv437765	chr12:83230454-83271933	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a
11	nsv832472	chr12:83248283-83419753	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
12	esv12590	chr12:83266497-83270119	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:83242200-83289800	Weak transcription	Stomach Mucosa	stomach
2	chr12:83252200-83273000	Weak transcription	Pancreas	Pancrea
3	chr12:83262200-83272800	Weak transcription	Fetal Lung	lung
4	chr12:83262200-83278000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:83263600-83269400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr12:83264600-83278000	Weak transcription	Small Intestine	intestine
7	chr12:83264800-83273400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr12:83264800-83277600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr12:83264800-83277800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:83265000-83269000	Enhancers	Brain Hippocampus Middle	brain
11	chr12:83265000-83269800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr12:83265000-83269800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:83265000-83271600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr12:83265200-83274200	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr12:83265600-83271800	Weak transcription	Fetal Heart	heart
16	chr12:83265600-83274200	Weak transcription	Fetal Brain Female	brain
17	chr12:83265800-83270800	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr12:83266200-83271200	Weak transcription	Brain Cingulate Gyrus	brain
19	chr12:83266200-83272000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr12:83266800-83269600	Enhancers	Brain Substantia Nigra	brain
21	chr12:83267200-83269400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr12:83267400-83269600	Enhancers	Brain Angular Gyrus	brain
23	chr12:83267600-83269200	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr12:83267600-83269400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:83267800-83269200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr12:83267800-83271000	Weak transcription	Colon Smooth Muscle	Colon
27	chr12:83268000-83269000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr12:83268000-83269200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr12:83268200-83268800	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr12:83268200-83271600	Weak transcription	Brain Anterior Caudate	brain
31	chr12:83268200-83273600	Weak transcription	Fetal Stomach	stomach
32	chr12:83268400-83268800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr12:83268400-83271200	Weak transcription	Brain Germinal Matrix	brain
34	chr12:83268400-83274000	Weak transcription	Fetal Brain Male	brain
35	chr12:83268600-83269200	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr12:83268600-83271800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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