Variant report

Variant	rs7300139
Chromosome Location	chr12:8997841-8997842
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:8997808-8997845	MCF-7	breast:	n/a	n/a

Variant related genes	Relation type
A2ML1	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10734734	0.83[EUR][1000 genomes]
rs10743504	0.83[EUR][1000 genomes]
rs11047510	0.83[EUR][1000 genomes]
rs11047578	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12296947	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17729632	0.83[EUR][1000 genomes]
rs17729753	0.93[CEU][hapmap]
rs17802399	0.83[EUR][1000 genomes]
rs1894814	0.82[EUR][1000 genomes]
rs4883186	0.80[EUR][1000 genomes]
rs4883187	0.83[EUR][1000 genomes]
rs55906630	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56230819	0.95[EUR][1000 genomes]
rs59908019	0.95[EUR][1000 genomes]
rs60175291	0.90[EUR][1000 genomes]
rs6487407	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7136690	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7301996	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7302253	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7304994	0.87[CEU][hapmap];0.83[EUR][1000 genomes]
rs7305259	0.84[EUR][1000 genomes]
rs7308811	0.93[CEU][hapmap]
rs7957179	0.87[EUR][1000 genomes]
rs7970580	0.85[EUR][1000 genomes]
rs7978604	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:8982200-9022000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:8983400-9017600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr12:8983800-8999800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr12:8987600-9004200	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr12:8987600-9040000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr12:8987800-9002800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr12:8987800-9004800	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr12:8987800-9012800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr12:8988200-9012800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr12:8994800-9016600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr12:8996000-9007000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:8996000-9040000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:8996200-9001200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr12:8997000-8998000	Enhancers	Brain Hippocampus Middle	brain
15	chr12:8997000-8998000	Enhancers	Brain Substantia Nigra	brain
16	chr12:8997000-8998000	Enhancers	Right Ventricle	heart
17	chr12:8997000-8998200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr12:8997000-9001600	Strong transcription	Esophagus	oesophagus
19	chr12:8997200-8998000	Enhancers	Adipose Nuclei	Adipose
20	chr12:8997200-8998000	Enhancers	Fetal Heart	heart
21	chr12:8997200-8998000	Enhancers	Pancreas	Pancrea
22	chr12:8997400-8998000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr12:8997400-8998000	Enhancers	Left Ventricle	heart
24	chr12:8997400-8998000	Enhancers	Right Atrium	heart
25	chr12:8997400-8998800	Enhancers	Ovary	ovary
26	chr12:8997600-8998000	Enhancers	K562	blood
27	chr12:8997600-8998200	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr12:8997600-9004200	Weak transcription	Brain Anterior Caudate	brain
29	chr12:8997800-8998000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr12:8997800-8998000	Enhancers	Fetal Muscle Trunk	muscle

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