Variant report

Variant	rs4981004
Chromosome Location	chr12:121980192-121980193
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:121968721..121970386-chr12:121980067..121981656,2	MCF-7	breast:
2	chr12:121931071..121932848-chr12:121979141..121982092,2	MCF-7	breast:
3	chr12:121972712..121978158-chr12:121979999..121983174,5	K562	blood:
4	chr12:121975117..121978158-chr12:121980150..121983341,3	K562	blood:

Variant related genes	Relation type
ENSG00000089094	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs28373517	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28379971	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28397967	0.89[EUR][1000 genomes]
rs28451063	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28481788	0.89[EUR][1000 genomes]
rs28520411	0.80[EUR][1000 genomes]
rs28604990	0.81[EUR][1000 genomes]
rs28618294	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs28620502	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28663167	0.80[EUR][1000 genomes]
rs28667673	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28671138	0.81[EUR][1000 genomes]
rs28687122	0.87[EUR][1000 genomes]
rs28728162	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28757753	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28845610	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4981000	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4981013	0.97[AMR][1000 genomes]
rs4981016	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[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	nsv1053272	chr12:121956483-122132477	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
2	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121976400-121986400	Weak transcription	Lung	lung
2	chr12:121976400-121986400	Weak transcription	Ovary	ovary
3	chr12:121976400-121990000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr12:121976400-122001200	Strong transcription	Dnd41	blood
5	chr12:121976600-121985000	Weak transcription	Brain Angular Gyrus	brain
6	chr12:121976600-121986000	Weak transcription	Brain Substantia Nigra	brain
7	chr12:121976600-121986400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr12:121976600-121986400	Weak transcription	Brain Hippocampus Middle	brain
9	chr12:121976600-121987200	Weak transcription	Aorta	Aorta
10	chr12:121976600-121988400	Weak transcription	Osteobl	bone
11	chr12:121976600-121988800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr12:121976600-121989800	Weak transcription	HSMMtube	muscle
13	chr12:121976600-122006800	Weak transcription	Fetal Lung	lung
14	chr12:121976600-122014600	Weak transcription	Colonic Mucosa	Colon
15	chr12:121976800-121981600	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr12:121976800-121981800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr12:121976800-121981800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr12:121976800-121983800	Weak transcription	Esophagus	oesophagus
19	chr12:121976800-121984600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr12:121976800-121984800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:121976800-121984800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr12:121976800-121984800	Weak transcription	Brain Cingulate Gyrus	brain
23	chr12:121976800-121984800	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr12:121976800-121984800	Weak transcription	Stomach Smooth Muscle	stomach
25	chr12:121976800-121986200	Weak transcription	Rectal Smooth Muscle	rectum
26	chr12:121976800-121986400	Weak transcription	Adipose Nuclei	Adipose
27	chr12:121976800-121986400	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr12:121976800-121986400	Weak transcription	Left Ventricle	heart
29	chr12:121976800-121988400	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr12:121976800-121988600	Weak transcription	Fetal Brain Female	brain
31	chr12:121976800-121990600	Weak transcription	Colon Smooth Muscle	Colon
32	chr12:121976800-121995400	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr12:121976800-121998600	Weak transcription	NHDF-Ad	bronchial
34	chr12:121977000-121981400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr12:121977000-121981600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr12:121977000-121983400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr12:121977000-121983600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr12:121977000-121984600	Weak transcription	Primary hematopoietic stem cells	blood
39	chr12:121977000-121984600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr12:121977000-121984600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr12:121977000-121984600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr12:121977000-121984800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr12:121977000-121985000	Weak transcription	Primary B cells from peripheral blood	blood
44	chr12:121977000-121986200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr12:121977000-121986200	Weak transcription	Right Ventricle	heart
46	chr12:121977000-121986200	Weak transcription	NHEK	skin
47	chr12:121977000-121986400	Weak transcription	Gastric	stomach
48	chr12:121977000-121986400	Weak transcription	Pancreas	Pancrea
49	chr12:121977000-121986400	Weak transcription	Spleen	Spleen
50	chr12:121977000-121986400	Weak transcription	NHLF	lung

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