Variant report

Variant	rs73264776
Chromosome Location	chr12:10369084-10369085
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:10364689-10371257	IMR90	lung:	n/a	n/a
2	POLR2A	chr12:10368632-10369128	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:10363710..10369534-chr12:10376619..10381190,6	K562	blood:
2	chr12:10366474..10368144-chr12:10368939..10370731,2	K562	blood:
3	chr12:10364222..10366094-chr12:10367394..10369564,2	K562	blood:

Variant related genes	Relation type
ENSG00000255958	TF binding region
ENSG00000255958	Chromatin interaction
ENSG00000134539	Chromatin interaction
ENSG00000139112	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs5003527	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58421114	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73264708	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73264778	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73264779	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73264786	0.97[AFR][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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10366600-10370600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:10366800-10371000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:10366800-10372600	Weak transcription	Gastric	stomach
4	chr12:10366800-10373000	Weak transcription	Esophagus	oesophagus
5	chr12:10366800-10386600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr12:10367000-10370600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr12:10367000-10371800	Weak transcription	Fetal Muscle Trunk	muscle
8	chr12:10367000-10372400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:10367200-10370200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr12:10367400-10371200	Weak transcription	Thymus	Thymus
11	chr12:10367400-10371800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr12:10367800-10370200	Weak transcription	Fetal Stomach	stomach
13	chr12:10367800-10374000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr12:10367800-10374400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr12:10367800-10374400	Weak transcription	HepG2	liver
16	chr12:10368000-10369800	Weak transcription	NH-A	brain
17	chr12:10368000-10370400	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr12:10368000-10370600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr12:10368000-10370600	Weak transcription	Fetal Muscle Leg	muscle
20	chr12:10368000-10371600	Weak transcription	Lung	lung
21	chr12:10368000-10372200	Weak transcription	Pancreas	Pancrea
22	chr12:10368000-10372200	Weak transcription	Spleen	Spleen
23	chr12:10368000-10372400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr12:10368000-10372400	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr12:10368000-10372400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr12:10368000-10372400	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr12:10368000-10372600	Weak transcription	Rectal Smooth Muscle	rectum
28	chr12:10368000-10373000	Weak transcription	HSMM	muscle
29	chr12:10368000-10374200	Weak transcription	NHDF-Ad	bronchial
30	chr12:10368000-10374400	Weak transcription	Small Intestine	intestine
31	chr12:10368000-10375400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr12:10368200-10369400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr12:10368200-10371200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr12:10368200-10371200	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr12:10368200-10371800	Weak transcription	Fetal Brain Female	brain
36	chr12:10368200-10371800	Weak transcription	HSMMtube	muscle
37	chr12:10368200-10372400	Weak transcription	Osteobl	bone
38	chr12:10368200-10372600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr12:10368200-10372600	Weak transcription	Colonic Mucosa	Colon
40	chr12:10368200-10373200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr12:10368400-10369200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr12:10368400-10369800	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr12:10368400-10370000	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr12:10368400-10370000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr12:10368400-10370000	Weak transcription	Brain Cingulate Gyrus	brain
46	chr12:10368400-10370200	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr12:10368400-10370400	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr12:10368400-10370400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr12:10368400-10370400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr12:10368400-10370600	Weak transcription	H9 Cell Line	embryonic stem cell

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