Variant report

Variant	rs73395291
Chromosome Location	chr12:106442234-106442235
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:106441955..106444641-chr12:106446481..106448268,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1427794	0.92[AFR][1000 genomes]
rs17041572	1.00[EUR][1000 genomes]
rs57752342	1.00[EUR][1000 genomes]
rs58706987	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs60117100	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73397105	0.91[AFR][1000 genomes]
rs753924	0.90[AFR][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	nsv832509	chr12:106363888-106516221	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106415800-106456400	Weak transcription	Aorta	Aorta
2	chr12:106433400-106444400	Weak transcription	Right Ventricle	heart
3	chr12:106433800-106443400	Weak transcription	Gastric	stomach
4	chr12:106434600-106445400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:106438800-106442600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr12:106439000-106442600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr12:106439000-106446000	Weak transcription	Fetal Lung	lung
8	chr12:106439200-106445400	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr12:106439600-106445400	Weak transcription	HSMM	muscle
10	chr12:106440600-106442400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr12:106440600-106442400	Weak transcription	Brain Substantia Nigra	brain
12	chr12:106440600-106442400	Weak transcription	Fetal Heart	heart
13	chr12:106440600-106443200	Strong transcription	HSMMtube	muscle
14	chr12:106440600-106444000	Enhancers	Fetal Brain Male	brain
15	chr12:106440600-106445600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr12:106440600-106446400	Weak transcription	Right Atrium	heart
17	chr12:106441000-106442400	Weak transcription	Brain Hippocampus Middle	brain
18	chr12:106441000-106444400	Weak transcription	Lung	lung
19	chr12:106441200-106444400	Enhancers	Fetal Brain Female	brain
20	chr12:106441400-106443800	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr12:106441800-106442600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr12:106442000-106443600	Enhancers	Brain Cingulate Gyrus	brain
23	chr12:106442000-106444000	Enhancers	Brain Angular Gyrus	brain
24	chr12:106442200-106442400	Weak transcription	Brain Anterior Caudate	brain

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