Variant report

Variant	rs571852327
Chromosome Location	chr12:56374042-56374043
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:56222612..56225517-chr12:56372520..56376647,5	MCF-7	breast:
2	chr12:56372410..56374050-chr12:56374404..56376461,2	MCF-7	breast:
3	chr12:56320862..56327055-chr12:56370927..56377943,9	MCF-7	breast:
4	chr12:56350213..56352992-chr12:56373952..56376823,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135392	Chromatin interaction
ENSG00000237493	Chromatin interaction
ENSG00000170473	Chromatin interaction
ENSG00000065357	Chromatin interaction
ENSG00000182796	Chromatin interaction
ENSG00000185664	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	nsv1051961	chr12:56262220-56629427	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS 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	284 gene(s)	inside rSNPs	diseases
2	nsv832424	chr12:56275226-56466917	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
3	nsv1043988	chr12:56348185-56534900	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	189 gene(s)	inside rSNPs	diseases
4	nsv973073	chr12:56373818-56374702	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56368600-56374200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:56368600-56375400	Weak transcription	Lung	lung
3	chr12:56368600-56383200	Weak transcription	Gastric	stomach
4	chr12:56368800-56374200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:56368800-56379000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:56369000-56383600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr12:56369200-56374200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr12:56369200-56375000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr12:56369200-56375200	Weak transcription	A549	lung
10	chr12:56369200-56376200	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr12:56369200-56376200	Weak transcription	NHDF-Ad	bronchial
12	chr12:56369200-56379000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr12:56369200-56380000	Weak transcription	Right Ventricle	heart
14	chr12:56369200-56380400	Weak transcription	Aorta	Aorta
15	chr12:56369200-56383600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr12:56369200-56384600	Weak transcription	Psoas Muscle	Psoas
17	chr12:56369400-56374200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr12:56369400-56374200	Weak transcription	Esophagus	oesophagus
19	chr12:56369400-56374200	Weak transcription	Spleen	Spleen
20	chr12:56369400-56374400	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr12:56369400-56375200	Weak transcription	Fetal Brain Female	brain
22	chr12:56369400-56375200	Weak transcription	Fetal Kidney	kidney
23	chr12:56369400-56379400	Strong transcription	Fetal Muscle Leg	muscle
24	chr12:56369400-56381000	Weak transcription	Small Intestine	intestine
25	chr12:56369400-56383400	Weak transcription	Pancreas	Pancrea
26	chr12:56369400-56384200	Weak transcription	Fetal Brain Male	brain
27	chr12:56369400-56389400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:56369800-56389600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr12:56370000-56375200	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr12:56370000-56376400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr12:56370000-56389600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr12:56370000-56389600	Strong transcription	Fetal Thymus	thymus
33	chr12:56370200-56375400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr12:56370200-56375400	Strong transcription	NHEK	skin
35	chr12:56370200-56389600	Strong transcription	Fetal Muscle Trunk	muscle
36	chr12:56370400-56374200	Weak transcription	Brain Angular Gyrus	brain
37	chr12:56370400-56374400	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr12:56370400-56374600	Weak transcription	Stomach Smooth Muscle	stomach
39	chr12:56370400-56375000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr12:56370400-56385000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr12:56370400-56388400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr12:56370600-56374200	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr12:56370600-56375600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr12:56370600-56376200	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr12:56370600-56376400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr12:56370600-56379000	Weak transcription	Brain Hippocampus Middle	brain
47	chr12:56370600-56383200	Weak transcription	HepG2	liver
48	chr12:56370600-56383400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr12:56370600-56388200	Strong transcription	Dnd41	blood
50	chr12:56370600-56389600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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