Variant report

Variant	rs12311177
Chromosome Location	chr12:26359294-26359295
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:26357801..26359384-chr12:26374632..26376428,2	K562	blood:
2	chr12:26351932..26353436-chr12:26357817..26360004,2	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs34624361	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs66559105	0.92[EUR][1000 genomes]
rs73072409	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73089079	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73090814	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs753616	1.00[JPT][hapmap]
rs7955911	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv648	chr12:26330291-26375186	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv817432	chr12:26355515-26873664	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 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	chr12:26352200-26365200	Weak transcription	HSMMtube	muscle
2	chr12:26357400-26360200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:26357600-26359600	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr12:26357600-26359800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:26357800-26359400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr12:26357800-26365600	Weak transcription	Ovary	ovary
7	chr12:26358200-26359600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
8	chr12:26358200-26365200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr12:26358400-26363600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr12:26358600-26359800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr12:26358600-26359800	Enhancers	Brain Cingulate Gyrus	brain
12	chr12:26358600-26360000	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr12:26358600-26368400	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr12:26358600-26379000	Weak transcription	Fetal Muscle Leg	muscle
15	chr12:26358800-26360000	Enhancers	Brain Hippocampus Middle	brain
16	chr12:26358800-26362600	Weak transcription	Colon Smooth Muscle	Colon
17	chr12:26358800-26367000	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr12:26359000-26359400	Weak transcription	Brain Angular Gyrus	brain
19	chr12:26359000-26360000	Enhancers	Brain Anterior Caudate	brain
20	chr12:26359000-26360000	Enhancers	Brain Substantia Nigra	brain
21	chr12:26359000-26362400	Weak transcription	Fetal Heart	heart
22	chr12:26359200-26364000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr12:26359200-26367000	Weak transcription	Psoas Muscle	Psoas
24	chr12:26359200-26379600	Weak transcription	Aorta	Aorta

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