Variant report

Variant	rs12112022
Chromosome Location	chr7:112131696-112131697
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:112128570..112130551-chr7:112131471..112133164,2	K562	blood:
2	chr7:112131612..112134582-chr7:112135231..112138012,2	K562	blood:
3	chr7:112126727..112128231-chr7:112130994..112133220,2	K562	blood:
4	chr7:112122370..112125277-chr7:112129500..112134032,5	K562	blood:

Variant related genes	Relation type
ENSG00000181016	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1006536	0.82[AMR][1000 genomes]
rs10953714	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11767398	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][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	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers 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	105 gene(s)	inside rSNPs	diseases
2	nsv1030033	chr7:112092709-112140430	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112100600-112135000	Weak transcription	Esophagus	oesophagus
2	chr7:112114400-112132000	Weak transcription	HepG2	liver
3	chr7:112116800-112132200	Weak transcription	Fetal Intestine Small	intestine
4	chr7:112118800-112141600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:112121000-112136200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr7:112121200-112132000	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr7:112122600-112132400	Weak transcription	Gastric	stomach
8	chr7:112123200-112135400	Weak transcription	Fetal Lung	lung
9	chr7:112125200-112134600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:112125200-112138200	Weak transcription	Pancreas	Pancrea
11	chr7:112125400-112132000	Weak transcription	Placenta	Placenta
12	chr7:112125400-112134800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr7:112125400-112135800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr7:112125400-112142200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr7:112125400-112143200	Weak transcription	Fetal Muscle Trunk	muscle
16	chr7:112125600-112133000	Weak transcription	Osteobl	bone
17	chr7:112125600-112134000	Weak transcription	NH-A	brain
18	chr7:112125600-112134800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr7:112125600-112135000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr7:112125800-112135800	Weak transcription	Colon Smooth Muscle	Colon
21	chr7:112126000-112132200	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr7:112126000-112132600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr7:112126000-112133400	Weak transcription	Brain Anterior Caudate	brain
24	chr7:112126000-112133400	Weak transcription	Fetal Muscle Leg	muscle
25	chr7:112126000-112133400	Weak transcription	HSMMtube	muscle
26	chr7:112126000-112135000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr7:112126000-112135000	Weak transcription	Brain Angular Gyrus	brain
28	chr7:112126000-112136200	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr7:112126000-112143600	Weak transcription	Right Ventricle	heart
30	chr7:112127200-112132600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr7:112127600-112133400	Weak transcription	Brain Substantia Nigra	brain
32	chr7:112127600-112135800	Weak transcription	Brain Hippocampus Middle	brain
33	chr7:112127800-112133400	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr7:112127800-112134800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr7:112128000-112132600	Weak transcription	Psoas Muscle	Psoas
36	chr7:112128000-112133400	Weak transcription	Left Ventricle	heart
37	chr7:112128000-112134800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr7:112128200-112133400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr7:112128400-112132000	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr7:112128400-112133400	Weak transcription	Fetal Heart	heart
41	chr7:112128400-112145600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr7:112130200-112135000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr7:112130200-112142200	Weak transcription	Adipose Nuclei	Adipose
44	chr7:112130400-112134400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr7:112130400-112135000	Weak transcription	Stomach Smooth Muscle	stomach
46	chr7:112130400-112135600	Weak transcription	Liver	Liver
47	chr7:112130400-112135800	Weak transcription	Aorta	Aorta
48	chr7:112130600-112133400	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr7:112131200-112133000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr7:112131600-112133600	Enhancers	Fetal Intestine Large	intestine

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