Variant report

Variant	rs12034440
Chromosome Location	chr1:172293142-172293143
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:172290966..172293542-chr1:172305681..172308662,2	MCF-7	breast:
2	chr1:172223489..172225833-chr1:172289738..172293302,4	MCF-7	breast:
3	chr1:172291112..172293715-chr1:172326566..172328931,2	MCF-7	breast:
4	chr1:172290799..172293766-chr1:172293837..172296183,4	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11585706	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12039027	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12049422	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12069167	0.83[EUR][1000 genomes]
rs2586401	0.85[EUR][1000 genomes]
rs2586403	0.85[EUR][1000 genomes]
rs2586404	0.84[EUR][1000 genomes]
rs2586407	0.85[EUR][1000 genomes]
rs2586408	0.86[EUR][1000 genomes]
rs2586410	0.85[EUR][1000 genomes]
rs2586411	0.86[EUR][1000 genomes]
rs2586412	0.85[EUR][1000 genomes]
rs2586413	0.86[EUR][1000 genomes]
rs2757493	0.86[EUR][1000 genomes]
rs2757495	0.86[EUR][1000 genomes]
rs2757496	0.83[EUR][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	nsv1006542	chr1:172253765-172304690	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172275200-172309800	Weak transcription	Left Ventricle	heart
2	chr1:172289600-172293200	Enhancers	Fetal Kidney	kidney
3	chr1:172289800-172293200	Enhancers	Ovary	ovary
4	chr1:172289800-172293400	Enhancers	Fetal Muscle Leg	muscle
5	chr1:172289800-172295200	Enhancers	Fetal Stomach	stomach
6	chr1:172290200-172295600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:172290600-172295400	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr1:172291600-172293200	Enhancers	Brain Germinal Matrix	brain
9	chr1:172291800-172294800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:172292000-172293200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr1:172292000-172293400	Weak transcription	Right Atrium	heart
12	chr1:172292200-172293200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:172292200-172293200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:172292200-172293200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr1:172292200-172293200	Enhancers	Rectal Smooth Muscle	rectum
16	chr1:172292200-172293200	Flanking Active TSS	A549	lung
17	chr1:172292200-172293200	Enhancers	NHDF-Ad	bronchial
18	chr1:172292200-172294000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr1:172292400-172293200	Enhancers	Lung	lung
20	chr1:172292400-172293200	Enhancers	HUVEC	blood vessel
21	chr1:172292400-172293200	Enhancers	NHLF	lung
22	chr1:172292400-172293800	Enhancers	Muscle Satellite Cultured Cells	--
23	chr1:172292600-172293200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:172292600-172293200	Enhancers	Stomach Smooth Muscle	stomach
25	chr1:172292600-172293200	Enhancers	Osteobl	bone
26	chr1:172292600-172293400	Enhancers	Hela-S3	cervix
27	chr1:172292600-172293800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr1:172292600-172294000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:172292600-172294000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr1:172292600-172294400	Weak transcription	Fetal Muscle Trunk	muscle
31	chr1:172292600-172297400	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr1:172292800-172293400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr1:172292800-172293400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr1:172292800-172293400	Enhancers	HMEC	breast
35	chr1:172292800-172293400	Enhancers	NHEK	skin
36	chr1:172292800-172294600	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr1:172292800-172294800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr1:172292800-172303600	Weak transcription	Aorta	Aorta
39	chr1:172293000-172293400	Enhancers	Placenta Amnion	Placenta Amnion
40	chr1:172293000-172293600	Enhancers	Fetal Lung	lung
41	chr1:172293000-172294200	Weak transcription	Colon Smooth Muscle	Colon
42	chr1:172293000-172294200	Weak transcription	NH-A	brain
43	chr1:172293000-172294600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr1:172293000-172294600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr1:172293000-172295200	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr1:172293000-172297400	Weak transcription	Brain Hippocampus Middle	brain

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