Variant report

Variant	rs226412
Chromosome Location	chr12:9241024-9241025
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:9240287..9243036-chr12:9243871..9246736,2	K562	blood:

Variant related genes	Relation type
ENSG00000175899	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs16917969	1.00[EUR][1000 genomes]
rs16918015	1.00[EUR][1000 genomes]
rs16918023	1.00[EUR][1000 genomes]
rs226409	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs226411	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs226413	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56016864	1.00[EUR][1000 genomes]
rs7298071	1.00[EUR][1000 genomes]
rs7303415	1.00[EUR][1000 genomes]
rs74060475	1.00[EUR][1000 genomes]
rs74060548	1.00[EUR][1000 genomes]
rs74060552	1.00[EUR][1000 genomes]
rs74061408	1.00[EUR][1000 genomes]
rs74061424	1.00[EUR][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	nsv832327	chr12:9081779-9246220	Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1045317	chr12:9113216-9544655	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
3	nsv898738	chr12:9205030-9274394	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1048491	chr12:9208806-9544655	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9218200-9266200	Weak transcription	Fetal Kidney	kidney
2	chr12:9219200-9266000	Weak transcription	Esophagus	oesophagus
3	chr12:9230800-9243600	Weak transcription	Colonic Mucosa	Colon
4	chr12:9232200-9264600	Weak transcription	Brain Hippocampus Middle	brain
5	chr12:9232400-9242600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr12:9232400-9244600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr12:9235000-9242800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr12:9235000-9253600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr12:9235200-9241200	Weak transcription	Left Ventricle	heart
10	chr12:9235200-9242400	Weak transcription	Aorta	Aorta
11	chr12:9235200-9242400	Weak transcription	Ovary	ovary
12	chr12:9235200-9242800	Weak transcription	Fetal Stomach	stomach
13	chr12:9235200-9242800	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr12:9235200-9242800	Weak transcription	Spleen	Spleen
15	chr12:9235200-9243000	Weak transcription	Lung	lung
16	chr12:9235200-9265800	Weak transcription	Fetal Muscle Trunk	muscle
17	chr12:9235800-9241600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:9236600-9258800	Weak transcription	Fetal Heart	heart
19	chr12:9236800-9242600	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr12:9236800-9242800	Weak transcription	Right Ventricle	heart
21	chr12:9236800-9243200	Weak transcription	Duodenum Mucosa	Duodenum
22	chr12:9237200-9252200	Weak transcription	Psoas Muscle	Psoas
23	chr12:9237200-9261200	Strong transcription	Liver	Liver
24	chr12:9237200-9265200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr12:9237400-9241200	Weak transcription	Adipose Nuclei	Adipose
26	chr12:9237400-9241200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr12:9237400-9264200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr12:9237600-9246000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr12:9237800-9258400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr12:9238600-9246800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr12:9238600-9265800	Strong transcription	Skeletal Muscle Female	skeletal muscle
32	chr12:9238800-9246600	Strong transcription	Stomach Smooth Muscle	stomach
33	chr12:9239400-9262800	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr12:9239400-9264000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr12:9239600-9242800	Weak transcription	Gastric	stomach
36	chr12:9239600-9243000	Strong transcription	HepG2	liver
37	chr12:9239600-9265000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr12:9240000-9241600	Weak transcription	Fetal Lung	lung
39	chr12:9240200-9241200	Strong transcription	Colon Smooth Muscle	Colon
40	chr12:9240400-9241800	Strong transcription	Placenta	Placenta
41	chr12:9240600-9243800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr12:9240800-9267600	Weak transcription	Fetal Intestine Large	intestine
43	chr12:9241000-9244000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr12:9241000-9246600	Strong transcription	Skeletal Muscle Male	skeletal muscle

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