Variant report

Variant	rs7342336
Chromosome Location	chr12:49614643-49614644
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:49612670..49615148-chr12:49657588..49660426,2	K562	blood:
2	chr12:49523075..49526693-chr12:49608220..49614713,7	K562	blood:
3	chr12:49613530..49615717-chr12:49619813..49622749,3	K562	blood:
4	chr12:49611550..49615135-chr12:49626761..49630349,3	MCF-7	breast:
5	chr12:49523551..49525631-chr12:49614182..49616413,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258101	Chromatin interaction
ENSG00000258017	Chromatin interaction
ENSG00000123416	Chromatin interaction
ENSG00000167553	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10083069	1.00[AMR][1000 genomes]
rs11168879	1.00[AMR][1000 genomes]
rs12303622	1.00[AMR][1000 genomes]
rs12305752	1.00[AMR][1000 genomes]
rs12318545	1.00[AMR][1000 genomes]
rs12321116	1.00[AMR][1000 genomes]
rs61730859	1.00[AMR][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	nsv1051161	chr12:49314550-49828473	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
2	nsv541489	chr12:49314550-49828473	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
3	nsv1036452	chr12:49376285-49867760	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	315 gene(s)	inside rSNPs	diseases
4	nsv428801	chr12:49536659-49744884	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49608000-49616400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:49608800-49614800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:49608800-49616800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:49608800-49617800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:49609200-49616600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr12:49609200-49616800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr12:49609200-49616800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr12:49609400-49615800	Weak transcription	HSMM	muscle
9	chr12:49609400-49616200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr12:49609400-49616200	Weak transcription	NHDF-Ad	bronchial
11	chr12:49609400-49616600	Weak transcription	Fetal Stomach	stomach
12	chr12:49609600-49616000	Weak transcription	Fetal Muscle Trunk	muscle
13	chr12:49610000-49616200	Weak transcription	NHLF	lung
14	chr12:49610200-49615200	Weak transcription	Fetal Muscle Leg	muscle
15	chr12:49610200-49616200	Weak transcription	HSMMtube	muscle
16	chr12:49610200-49616400	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr12:49610200-49616400	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr12:49610200-49616800	Weak transcription	Fetal Thymus	thymus
19	chr12:49610200-49625800	Weak transcription	Stomach Smooth Muscle	stomach
20	chr12:49610400-49616400	Weak transcription	Brain Substantia Nigra	brain
21	chr12:49611000-49616400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr12:49611000-49616400	Weak transcription	Brain Anterior Caudate	brain
23	chr12:49611000-49616600	Weak transcription	Fetal Brain Male	brain
24	chr12:49611200-49616000	Weak transcription	Fetal Brain Female	brain
25	chr12:49611200-49616400	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr12:49611200-49616400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr12:49612200-49620200	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr12:49613800-49616800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr12:49614200-49615000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr12:49614200-49615200	Enhancers	Placenta	Placenta
31	chr12:49614200-49618400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr12:49614400-49616600	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr12:49614600-49614800	Enhancers	Primary hematopoietic stem cells	blood
34	chr12:49614600-49614800	Enhancers	Spleen	Spleen
35	chr12:49614600-49615000	Enhancers	Brain Hippocampus Middle	brain
36	chr12:49614600-49615200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr12:49614600-49616400	Enhancers	Primary neutrophils fromperipheralblood	blood

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