Variant report

Variant	rs11168921
Chromosome Location	chr12:49609808-49609809
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:49607696..49610266-chr12:49612942..49614601,2	K562	blood:
2	chr12:49580930..49584417-chr12:49606768..49610900,5	MCF-7	breast:
3	chr12:49609630..49611481-chr12:49625309..49626819,2	K562	blood:
4	chr12:49523075..49526693-chr12:49608220..49614713,7	K562	blood:
5	chr12:49608287..49610880-chr12:49615814..49620950,5	K562	blood:
6	chr12:49609380..49611503-chr12:49619450..49622208,2	K562	blood:
7	chr12:49608287..49611416-chr12:49615384..49618103,4	K562	blood:

Variant related genes	Relation type
ENSG00000167552	Chromatin interaction
ENSG00000258017	Chromatin interaction
ENSG00000167553	Chromatin interaction
ENSG00000123416	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10467103	0.84[AMR][1000 genomes]
rs10875934	0.83[AFR][1000 genomes]
rs10875935	1.00[ASN][1000 genomes]
rs11168917	0.83[AFR][1000 genomes]
rs11168920	0.87[ASN][1000 genomes]
rs11168924	1.00[ASN][1000 genomes]
rs11168930	0.84[AMR][1000 genomes]
rs12824458	0.84[AMR][1000 genomes]
rs34022807	0.90[ASN][1000 genomes]
rs34367716	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59976042	0.83[AMR][1000 genomes]
rs68128447	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[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	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:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49606400-49610200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr12:49606600-49610000	Enhancers	NHLF	lung
3	chr12:49607200-49610000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr12:49607200-49610000	Enhancers	NH-A	brain
5	chr12:49607600-49610200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:49607600-49611000	Enhancers	Fetal Brain Male	brain
7	chr12:49607800-49612200	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr12:49608000-49616400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:49608400-49610000	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr12:49608400-49610200	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr12:49608400-49610200	Enhancers	H1 Cell Line	embryonic stem cell
12	chr12:49608400-49610200	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr12:49608400-49610200	Enhancers	Fetal Muscle Leg	muscle
14	chr12:49608600-49610000	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr12:49608600-49610000	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr12:49608800-49610000	Weak transcription	Fetal Thymus	thymus
17	chr12:49608800-49610400	Enhancers	Brain Substantia Nigra	brain
18	chr12:49608800-49614800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr12:49608800-49616800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr12:49608800-49617800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr12:49609200-49610000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:49609200-49610000	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr12:49609200-49610000	Weak transcription	Right Atrium	heart
24	chr12:49609200-49610200	Enhancers	Stomach Smooth Muscle	stomach
25	chr12:49609200-49611000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr12:49609200-49614200	Weak transcription	Placenta	Placenta
27	chr12:49609200-49614400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr12:49609200-49616600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr12:49609200-49616800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr12:49609200-49616800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr12:49609400-49610000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr12:49609400-49610000	Enhancers	Brain Germinal Matrix	brain
33	chr12:49609400-49610000	Enhancers	Fetal Brain Female	brain
34	chr12:49609400-49610000	Weak transcription	Right Ventricle	heart
35	chr12:49609400-49610200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr12:49609400-49610200	Enhancers	Brain Cingulate Gyrus	brain
37	chr12:49609400-49610200	Enhancers	Brain Hippocampus Middle	brain
38	chr12:49609400-49610200	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr12:49609400-49610200	Enhancers	HSMMtube	muscle
40	chr12:49609400-49610400	Enhancers	Brain Anterior Caudate	brain
41	chr12:49609400-49611200	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr12:49609400-49615800	Weak transcription	HSMM	muscle
43	chr12:49609400-49616200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr12:49609400-49616200	Weak transcription	NHDF-Ad	bronchial
45	chr12:49609400-49616600	Weak transcription	Fetal Stomach	stomach
46	chr12:49609600-49610000	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr12:49609600-49616000	Weak transcription	Fetal Muscle Trunk	muscle

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