Variant report

Variant	rs73246250
Chromosome Location	chr12:8259473-8259474
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11567787	1.00[EUR][1000 genomes]
rs11835082	1.00[EUR][1000 genomes]
rs12316458	1.00[EUR][1000 genomes]
rs12317265	1.00[EUR][1000 genomes]
rs12319208	1.00[EUR][1000 genomes]
rs3759280	1.00[EUR][1000 genomes]
rs58224396	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7302203	1.00[EUR][1000 genomes]
rs7315204	0.89[AFR][1000 genomes]
rs73244571	1.00[EUR][1000 genomes]
rs73244602	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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	nsv1040972	chr12:8003413-8266291	Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
9	nsv541388	chr12:8003413-8266291	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
10	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
11	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
12	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
13	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
14	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
15	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:64 , 50 per page) page: 1 2

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	chr12:8249200-8260000	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr12:8249200-8260800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr12:8249600-8271000	Weak transcription	Aorta	Aorta
7	chr12:8249600-8293200	Weak transcription	Pancreas	Pancrea
8	chr12:8249600-8298200	Weak transcription	HSMMtube	muscle
9	chr12:8250000-8260000	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr12:8250000-8261400	Weak transcription	Brain Substantia Nigra	brain
11	chr12:8250000-8288000	Weak transcription	Ovary	ovary
12	chr12:8250000-8293600	Weak transcription	Lung	lung
13	chr12:8250000-8298400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr12:8250200-8261200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr12:8250200-8261600	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr12:8250200-8273200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr12:8250200-8276600	Weak transcription	Left Ventricle	heart
18	chr12:8250200-8298400	Weak transcription	Colon Smooth Muscle	Colon
19	chr12:8250800-8261400	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr12:8250800-8261600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr12:8250800-8280000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr12:8251000-8260000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr12:8251000-8261200	Weak transcription	Brain Angular Gyrus	brain
24	chr12:8251000-8261400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr12:8251000-8261400	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr12:8251000-8261600	Weak transcription	Dnd41	blood
27	chr12:8251000-8262400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr12:8251000-8267600	Weak transcription	Primary B cells from cord blood	blood
29	chr12:8251000-8269400	Weak transcription	Osteobl	bone
30	chr12:8251000-8279600	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr12:8251000-8292200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr12:8251000-8293200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr12:8251000-8293800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr12:8251000-8298400	Weak transcription	Fetal Muscle Trunk	muscle
35	chr12:8251200-8280400	Weak transcription	Thymus	Thymus
36	chr12:8251200-8282000	Weak transcription	Fetal Muscle Leg	muscle
37	chr12:8251400-8274200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr12:8251600-8261200	Weak transcription	Brain Hippocampus Middle	brain
39	chr12:8251600-8274800	Weak transcription	Fetal Thymus	thymus
40	chr12:8251600-8275400	Weak transcription	Primary B cells from peripheral blood	blood
41	chr12:8251600-8275800	Weak transcription	GM12878-XiMat	blood
42	chr12:8251600-8286400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr12:8252000-8261600	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr12:8252200-8288000	Weak transcription	Stomach Smooth Muscle	stomach
45	chr12:8252200-8292000	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr12:8253600-8261600	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr12:8254000-8279800	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr12:8255000-8269200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr12:8255000-8295200	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr12:8255200-8261600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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