Variant report

Variant	rs58224396
Chromosome Location	chr12:8268838-8268839
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:8268675..8271290-chr12:8274009..8275527,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs73244065	0.94[AFR][1000 genomes]
rs73244074	0.95[AFR][1000 genomes]
rs73244081	0.92[AFR][1000 genomes]
rs73246250	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048545	chr12:7778760-8608231	Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv541368	chr12:7778760-8608231	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
3	esv1795892	chr12:7856819-8508693	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
4	esv2758292	chr12:7856819-8623987	Enhancers Active TSS Genic enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
5	esv2759877	chr12:7856819-8623987	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
6	nsv428270	chr12:7856819-8623987	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
7	esv1793572	chr12:7995827-8568422	Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
8	nsv916941	chr12:8003501-8608220	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
9	nsv1040958	chr12:8177050-8309724	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
10	nsv541396	chr12:8177050-8309724	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
11	nsv430460	chr12:8225225-8388656	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
12	nsv1040302	chr12:8245364-8695612	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
13	nsv541397	chr12:8245364-8695612	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:8235800-8272200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr12:8249000-8271400	Weak transcription	Fetal Kidney	kidney
3	chr12:8249000-8280000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr12:8249600-8271000	Weak transcription	Aorta	Aorta
5	chr12:8249600-8293200	Weak transcription	Pancreas	Pancrea
6	chr12:8249600-8298200	Weak transcription	HSMMtube	muscle
7	chr12:8250000-8288000	Weak transcription	Ovary	ovary
8	chr12:8250000-8293600	Weak transcription	Lung	lung
9	chr12:8250000-8298400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr12:8250200-8273200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr12:8250200-8276600	Weak transcription	Left Ventricle	heart
12	chr12:8250200-8298400	Weak transcription	Colon Smooth Muscle	Colon
13	chr12:8250800-8280000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr12:8251000-8269400	Weak transcription	Osteobl	bone
15	chr12:8251000-8279600	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr12:8251000-8292200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr12:8251000-8293200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr12:8251000-8293800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr12:8251000-8298400	Weak transcription	Fetal Muscle Trunk	muscle
20	chr12:8251200-8280400	Weak transcription	Thymus	Thymus
21	chr12:8251200-8282000	Weak transcription	Fetal Muscle Leg	muscle
22	chr12:8251400-8274200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr12:8251600-8274800	Weak transcription	Fetal Thymus	thymus
24	chr12:8251600-8275400	Weak transcription	Primary B cells from peripheral blood	blood
25	chr12:8251600-8275800	Weak transcription	GM12878-XiMat	blood
26	chr12:8251600-8286400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr12:8252200-8288000	Weak transcription	Stomach Smooth Muscle	stomach
28	chr12:8252200-8292000	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr12:8254000-8279800	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr12:8255000-8269200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr12:8255000-8295200	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr12:8255200-8290400	Weak transcription	Duodenum Mucosa	Duodenum
33	chr12:8257400-8278000	Weak transcription	Liver	Liver
34	chr12:8257400-8289400	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr12:8257800-8276200	Weak transcription	Adipose Nuclei	Adipose
36	chr12:8258600-8290400	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr12:8258800-8271200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr12:8258800-8288200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr12:8259000-8282400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr12:8260800-8293000	Weak transcription	Psoas Muscle	Psoas
41	chr12:8261200-8276400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr12:8261800-8277800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr12:8261800-8290400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr12:8262000-8279600	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr12:8262000-8290400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr12:8264800-8274400	Weak transcription	Spleen	Spleen
47	chr12:8266000-8269600	Strong transcription	Primary T cells from cord blood	blood
48	chr12:8267800-8275600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr12:8268400-8275400	Weak transcription	Primary B cells from cord blood	blood

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