Variant report

Variant	rs11169751
Chromosome Location	chr12:51580171-51580172
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:51474666..51478844-chr12:51578009..51583588,6	MCF-7	breast:
2	chr12:51579329..51581068-chr12:51630464..51632697,2	K562	blood:
3	chr12:51440541..51442704-chr12:51579931..51581494,2	MCF-7	breast:
4	chr12:51565656..51568783-chr12:51579080..51582144,3	K562	blood:
5	chr12:51577327..51580829-chr12:51630464..51634140,3	K562	blood:

Variant related genes	Relation type
ENSG00000183283	Chromatin interaction
ENSG00000110925	Chromatin interaction
ENSG00000050426	Chromatin interaction
ENSG00000135457	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10876150	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11169733	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11169734	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11169735	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11169738	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11169740	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11169741	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11169747	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2452796	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2640515	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2640518	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28392616	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2934092	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2956427	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4768971	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6580802	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7136657	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7305956	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7309374	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7399089	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7399090	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7959264	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7964762	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7974242	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7980006	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34039	chr12:51326702-51671911	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 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	chr12:51567400-51583400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:51567400-51584000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr12:51567400-51610600	Weak transcription	Right Atrium	heart
4	chr12:51574800-51583400	Weak transcription	Aorta	Aorta
5	chr12:51575600-51583600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr12:51575800-51583600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr12:51576800-51580800	Enhancers	Fetal Muscle Leg	muscle
8	chr12:51577600-51582400	Weak transcription	Brain Substantia Nigra	brain
9	chr12:51577600-51583000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr12:51577800-51580200	Enhancers	HepG2	liver
11	chr12:51577800-51580600	Weak transcription	Fetal Stomach	stomach
12	chr12:51577800-51582000	Weak transcription	Brain Anterior Caudate	brain
13	chr12:51577800-51583400	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr12:51578000-51580600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:51578000-51582200	Weak transcription	Brain Hippocampus Middle	brain
16	chr12:51578000-51583000	Weak transcription	Brain Cingulate Gyrus	brain
17	chr12:51578000-51583400	Weak transcription	Left Ventricle	heart
18	chr12:51578000-51583400	Weak transcription	Ovary	ovary
19	chr12:51578000-51583600	Weak transcription	Pancreas	Pancrea
20	chr12:51578000-51587600	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr12:51578200-51580200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr12:51578200-51580200	Enhancers	HSMMtube	muscle
23	chr12:51578200-51580200	Weak transcription	K562	blood
24	chr12:51578200-51580800	Weak transcription	Brain Angular Gyrus	brain
25	chr12:51578200-51581000	Weak transcription	Fetal Kidney	kidney
26	chr12:51578200-51582200	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr12:51578200-51582200	Weak transcription	Brain Germinal Matrix	brain
28	chr12:51578200-51586000	Weak transcription	Fetal Heart	heart
29	chr12:51578200-51596800	Weak transcription	Fetal Lung	lung
30	chr12:51578400-51580400	Weak transcription	Psoas Muscle	Psoas
31	chr12:51578400-51580800	Weak transcription	HSMM	muscle
32	chr12:51578400-51583800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr12:51578600-51580200	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr12:51578800-51580200	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr12:51579000-51583000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr12:51579400-51581000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr12:51579400-51581600	Weak transcription	Fetal Brain Female	brain
38	chr12:51579600-51583600	Enhancers	Fetal Thymus	thymus
39	chr12:51580000-51580200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr12:51580000-51580800	Enhancers	Primary T cells from cord blood	blood
41	chr12:51580000-51580800	Weak transcription	Fetal Muscle Trunk	muscle
42	chr12:51580000-51581200	Enhancers	GM12878-XiMat	blood
43	chr12:51580000-51581400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr12:51580000-51581600	Enhancers	Primary hematopoietic stem cells	blood
45	chr12:51580000-51581600	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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