Variant report

Variant	rs11169746
Chromosome Location	chr12:51578605-51578606
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:51577036..51579030-chr12:51592102..51594138,2	MCF-7	breast:
2	chr12:51474666..51478844-chr12:51578009..51583588,6	MCF-7	breast:
3	chr12:51577327..51580829-chr12:51630464..51634140,3	K562	blood:

Variant related genes	Relation type
ENSG00000183283	Chromatin interaction
ENSG00000110925	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10876142	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11169700	0.81[AMR][1000 genomes]
rs11169706	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11169708	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11169720	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11169721	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11169722	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11169737	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12227032	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12227973	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12230388	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12312531	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1493382	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17125365	0.81[AMR][1000 genomes]
rs17125371	0.89[AMR][1000 genomes]
rs2436636	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2452794	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2452795	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2452796	0.87[ASN][1000 genomes]
rs2640512	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2640515	0.87[ASN][1000 genomes]
rs2640518	0.87[ASN][1000 genomes]
rs2640520	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2640522	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2640525	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2640526	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2640528	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2730651	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2730653	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2730657	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2730659	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2934092	0.82[ASN][1000 genomes]
rs2956427	0.87[ASN][1000 genomes]
rs2956433	0.82[AMR][1000 genomes]
rs4768971	0.87[ASN][1000 genomes]
rs4768974	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56729853	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60203224	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7309374	0.87[ASN][1000 genomes]
rs7399208	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7399214	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7953765	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7980076	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[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:38 , 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	chr12:51576800-51578800	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr12:51576800-51580800	Enhancers	Fetal Muscle Leg	muscle
9	chr12:51577600-51582400	Weak transcription	Brain Substantia Nigra	brain
10	chr12:51577600-51583000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr12:51577800-51579600	Weak transcription	Fetal Thymus	thymus
12	chr12:51577800-51580200	Enhancers	HepG2	liver
13	chr12:51577800-51580600	Weak transcription	Fetal Stomach	stomach
14	chr12:51577800-51582000	Weak transcription	Brain Anterior Caudate	brain
15	chr12:51577800-51583400	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr12:51578000-51580000	Weak transcription	GM12878-XiMat	blood
17	chr12:51578000-51580600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:51578000-51582200	Weak transcription	Brain Hippocampus Middle	brain
19	chr12:51578000-51583000	Weak transcription	Brain Cingulate Gyrus	brain
20	chr12:51578000-51583400	Weak transcription	Left Ventricle	heart
21	chr12:51578000-51583400	Weak transcription	Ovary	ovary
22	chr12:51578000-51583600	Weak transcription	Pancreas	Pancrea
23	chr12:51578000-51587600	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr12:51578200-51579400	Enhancers	Fetal Muscle Trunk	muscle
25	chr12:51578200-51580200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr12:51578200-51580200	Enhancers	HSMMtube	muscle
27	chr12:51578200-51580200	Weak transcription	K562	blood
28	chr12:51578200-51580800	Weak transcription	Brain Angular Gyrus	brain
29	chr12:51578200-51581000	Weak transcription	Fetal Kidney	kidney
30	chr12:51578200-51582200	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr12:51578200-51582200	Weak transcription	Brain Germinal Matrix	brain
32	chr12:51578200-51586000	Weak transcription	Fetal Heart	heart
33	chr12:51578200-51596800	Weak transcription	Fetal Lung	lung
34	chr12:51578400-51580000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr12:51578400-51580400	Weak transcription	Psoas Muscle	Psoas
36	chr12:51578400-51580800	Weak transcription	HSMM	muscle
37	chr12:51578400-51583800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr12:51578600-51580200	Weak transcription	Skeletal Muscle Male	skeletal muscle

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