Variant report

Variant	rs74061444
Chromosome Location	chr12:9242763-9242764
allele	A/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: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs16917975	1.00[AMR][1000 genomes]
rs16918033	1.00[AMR][1000 genomes]
rs16918120	1.00[AMR][1000 genomes]
rs16918292	1.00[AMR][1000 genomes]
rs1805748	1.00[AMR][1000 genomes]
rs1805764	1.00[AMR][1000 genomes]
rs1805769	1.00[AMR][1000 genomes]
rs56966204	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58537365	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59792548	1.00[AMR][1000 genomes]
rs60190629	1.00[AMR][1000 genomes]
rs7297635	1.00[AMR][1000 genomes]
rs7304882	1.00[AMR][1000 genomes]
rs74060300	1.00[AMR][1000 genomes]
rs74060302	1.00[AMR][1000 genomes]
rs74060475	1.00[AMR][1000 genomes]
rs74060477	1.00[AMR][1000 genomes]
rs74060491	1.00[AMR][1000 genomes]
rs74061403	1.00[AMR][1000 genomes]
rs74061408	1.00[AMR][1000 genomes]
rs7980046	1.00[AFR][1000 genomes];1.00[AMR][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:45 , 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	chr12:9232400-9244600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr12:9235000-9242800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr12:9235000-9253600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr12:9235200-9242800	Weak transcription	Fetal Stomach	stomach
9	chr12:9235200-9242800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr12:9235200-9242800	Weak transcription	Spleen	Spleen
11	chr12:9235200-9243000	Weak transcription	Lung	lung
12	chr12:9235200-9265800	Weak transcription	Fetal Muscle Trunk	muscle
13	chr12:9236600-9258800	Weak transcription	Fetal Heart	heart
14	chr12:9236800-9242800	Weak transcription	Right Ventricle	heart
15	chr12:9236800-9243200	Weak transcription	Duodenum Mucosa	Duodenum
16	chr12:9237200-9252200	Weak transcription	Psoas Muscle	Psoas
17	chr12:9237200-9261200	Strong transcription	Liver	Liver
18	chr12:9237200-9265200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr12:9237400-9264200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr12:9237600-9246000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr12:9237800-9258400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr12:9238600-9246800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr12:9238600-9265800	Strong transcription	Skeletal Muscle Female	skeletal muscle
24	chr12:9238800-9246600	Strong transcription	Stomach Smooth Muscle	stomach
25	chr12:9239400-9262800	Strong transcription	Duodenum Smooth Muscle	Duodenum
26	chr12:9239400-9264000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr12:9239600-9242800	Weak transcription	Gastric	stomach
28	chr12:9239600-9243000	Strong transcription	HepG2	liver
29	chr12:9239600-9265000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr12:9240600-9243800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr12:9240800-9267600	Weak transcription	Fetal Intestine Large	intestine
32	chr12:9241000-9244000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr12:9241000-9246600	Strong transcription	Skeletal Muscle Male	skeletal muscle
34	chr12:9241200-9243400	Weak transcription	Colon Smooth Muscle	Colon
35	chr12:9241200-9246000	Strong transcription	Left Ventricle	heart
36	chr12:9241200-9247000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr12:9241200-9262800	Strong transcription	Adipose Nuclei	Adipose
38	chr12:9241600-9264000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr12:9241800-9242800	Weak transcription	Placenta	Placenta
40	chr12:9242000-9243600	Weak transcription	Fetal Lung	lung
41	chr12:9242400-9246800	Strong transcription	Aorta	Aorta
42	chr12:9242400-9247000	Strong transcription	Ovary	ovary
43	chr12:9242600-9243000	Enhancers	GM12878-XiMat	blood
44	chr12:9242600-9245400	Strong transcription	Rectal Smooth Muscle	rectum
45	chr12:9242600-9246200	Strong transcription	Rectal Mucosa Donor 29	rectum

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