Variant report

Variant	rs7966224
Chromosome Location	chr12:10380431-10380432
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:10363710..10369534-chr12:10376619..10381190,6	K562	blood:

Variant related genes	Relation type
ENSG00000139112	Chromatin interaction
ENSG00000255958	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10734821	0.92[EUR][1000 genomes]
rs10743874	0.94[EUR][1000 genomes]
rs10743875	0.91[EUR][1000 genomes]
rs11053709	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11830137	0.82[EUR][1000 genomes]
rs12305130	0.82[AMR][1000 genomes]
rs2417580	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4254156	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4325390	0.85[EUR][1000 genomes]
rs4764331	0.98[EUR][1000 genomes]
rs7136409	0.82[AMR][1000 genomes]
rs7298789	0.93[ASN][1000 genomes]
rs765790	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898757	chr12:10229281-10614641	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1054811	chr12:10350587-10440005	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10366800-10386600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:10373400-10382200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:10375400-10380600	Weak transcription	Fetal Lung	lung
4	chr12:10376400-10386600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr12:10376400-10386600	Weak transcription	Brain Substantia Nigra	brain
6	chr12:10376400-10388600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr12:10376400-10395000	Weak transcription	Pancreas	Pancrea
8	chr12:10376400-10397600	Weak transcription	Aorta	Aorta
9	chr12:10376600-10382400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr12:10376600-10385600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr12:10376800-10385800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr12:10377000-10382800	Weak transcription	Right Ventricle	heart
13	chr12:10377000-10385000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr12:10377000-10386600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr12:10377200-10381800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr12:10377200-10383000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr12:10377200-10384200	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr12:10377200-10385200	Weak transcription	Lung	lung
19	chr12:10377200-10386000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr12:10377200-10386000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr12:10377200-10386000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr12:10377200-10386800	Weak transcription	HSMMtube	muscle
23	chr12:10377200-10389000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr12:10377200-10394200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr12:10377200-10394600	Weak transcription	Stomach Smooth Muscle	stomach
26	chr12:10377200-10399000	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr12:10377600-10381000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr12:10377600-10381000	Weak transcription	Brain Hippocampus Middle	brain
29	chr12:10377600-10386800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr12:10377600-10386800	Weak transcription	Liver	Liver
31	chr12:10377600-10386800	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr12:10377800-10404400	Weak transcription	Left Ventricle	heart
33	chr12:10378800-10386200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr12:10379000-10380600	Weak transcription	Placenta	Placenta
35	chr12:10379200-10380600	Enhancers	Fetal Thymus	thymus
36	chr12:10380000-10381000	Enhancers	Primary T cells from cord blood	blood
37	chr12:10380000-10386600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr12:10380200-10381000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr12:10380200-10381000	Enhancers	GM12878-XiMat	blood
40	chr12:10380200-10395800	Weak transcription	Thymus	Thymus
41	chr12:10380400-10380600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr12:10380400-10380600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr12:10380400-10380600	Enhancers	Colon Smooth Muscle	Colon
44	chr12:10380400-10380600	Active TSS	Sigmoid Colon	Sigmoid Colon
45	chr12:10380400-10380600	Enhancers	Dnd41	blood
46	chr12:10380400-10380800	Enhancers	Rectal Smooth Muscle	rectum

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