Variant report

Variant	rs12508818
Chromosome Location	chr4:166301099-166301100
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:166298064..166301679-chr4:166306197..166309667,4	MCF-7	breast:
2	chr4:166248749..166251544-chr4:166300636..166302638,2	MCF-7	breast:
3	chr4:166126423..166128941-chr4:166299614..166301287,2	MCF-7	breast:
4	chr4:166300805..166303563-chr4:166307690..166309823,2	K562	blood:
5	chr4:166300182..166301937-chr4:166338452..166341339,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000052802	Chromatin interaction
ENSG00000109466	Chromatin interaction
ENSG00000109472	Chromatin interaction
ENSG00000207559	Chromatin interaction

rs_ID	r²[population]
rs11944875	0.83[AMR][1000 genomes]
rs12502374	0.80[AMR][1000 genomes]
rs12509669	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13123297	0.80[AMR][1000 genomes]
rs13148844	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1370683	0.80[AMR][1000 genomes]

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:166298000-166302400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:166299200-166301400	Active TSS	Rectal Smooth Muscle	rectum
3	chr4:166299200-166303200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr4:166299400-166301400	Active TSS	Stomach Smooth Muscle	stomach
5	chr4:166299400-166302200	Active TSS	Aorta	Aorta
6	chr4:166299400-166304000	Active TSS	Brain Hippocampus Middle	brain
7	chr4:166299600-166301200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
8	chr4:166299600-166301200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr4:166299600-166301200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
10	chr4:166299600-166301200	Active TSS	Ovary	ovary
11	chr4:166299600-166301200	Bivalent/Poised TSS	Thymus	Thymus
12	chr4:166299600-166301400	Active TSS	NH-A	brain
13	chr4:166299600-166301400	Active TSS	NHLF	lung
14	chr4:166299600-166301600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
15	chr4:166299600-166301600	Active TSS	Skeletal Muscle Male	skeletal muscle
16	chr4:166299600-166301800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
17	chr4:166299600-166304400	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr4:166299800-166301200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr4:166299800-166301200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr4:166299800-166301200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr4:166299800-166301200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr4:166299800-166301200	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr4:166299800-166301200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr4:166299800-166301200	Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr4:166299800-166301200	Active TSS	Esophagus	oesophagus
26	chr4:166299800-166301200	Active TSS	Pancreas	Pancrea
27	chr4:166299800-166301400	Active TSS	H9 Cell Line	embryonic stem cell
28	chr4:166299800-166301400	Active TSS	Adipose Nuclei	Adipose
29	chr4:166299800-166301400	Active TSS	Left Ventricle	heart
30	chr4:166299800-166301400	Active TSS	Rectal Mucosa Donor 31	rectum
31	chr4:166299800-166301400	Active TSS	Right Ventricle	heart
32	chr4:166299800-166302200	Active TSS	Brain Substantia Nigra	brain
33	chr4:166299800-166303000	Active TSS	Fetal Brain Female	brain
34	chr4:166299800-166303200	Active TSS	Brain Anterior Caudate	brain
35	chr4:166300000-166301200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr4:166300000-166301200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr4:166300000-166301200	Active TSS	Fetal Lung	lung
38	chr4:166300000-166301400	Bivalent/Poised TSS	Fetal Intestine Small	intestine
39	chr4:166300000-166301400	Active TSS	Fetal Kidney	kidney
40	chr4:166300000-166301400	Active TSS	Rectal Mucosa Donor 29	rectum
41	chr4:166300000-166301600	Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr4:166300000-166301800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
43	chr4:166300000-166301800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr4:166300000-166302600	Active TSS	Brain Angular Gyrus	brain
45	chr4:166300000-166304000	Active TSS	Brain Cingulate Gyrus	brain
46	chr4:166300200-166301400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
47	chr4:166300200-166301400	Active TSS	Right Atrium	heart
48	chr4:166300200-166301600	Active TSS	Skeletal Muscle Female	skeletal muscle
49	chr4:166300200-166301800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr4:166300200-166303000	Active TSS	Brain Inferior Temporal Lobe	brain

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