Variant report

Variant	rs810205
Chromosome Location	chr12:58024278-58024279
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:57908910..57916122-chr12:58022622..58031573,17	K562	blood:
2	chr12:57916469..57918452-chr12:58024223..58025919,2	K562	blood:
3	chr12:57908910..57916403-chr12:58022622..58028885,15	K562	blood:

Variant related genes	Relation type
ENSG00000166987	Chromatin interaction
ENSG00000166986	Chromatin interaction
ENSG00000208028	Chromatin interaction
ENSG00000175197	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1284185	1.00[CEU][hapmap]
rs1678517	0.88[EUR][1000 genomes]
rs1678521	0.88[EUR][1000 genomes]
rs1689599	0.88[EUR][1000 genomes]
rs1689602	0.88[EUR][1000 genomes]
rs2599999	1.00[CEU][hapmap]
rs2640606	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs774894	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs775242	1.00[CEU][hapmap]
rs813516	1.00[CEU][hapmap];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038741	chr12:57877355-58174506	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
2	nsv541503	chr12:57877355-58174506	Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
3	nsv541504	chr12:57958701-58062311	Bivalent Enhancer Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58017000-58025000	Weak transcription	K562	blood
2	chr12:58018000-58024600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:58019400-58025200	Weak transcription	Hela-S3	cervix
4	chr12:58020400-58024800	Weak transcription	HepG2	liver
5	chr12:58020600-58024800	Strong transcription	A549	lung
6	chr12:58020600-58026200	Weak transcription	Aorta	Aorta
7	chr12:58020800-58025200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr12:58021400-58025600	Weak transcription	HMEC	breast
9	chr12:58021600-58024800	Strong transcription	Skeletal Muscle Female	skeletal muscle
10	chr12:58022000-58025600	Weak transcription	Pancreas	Pancrea
11	chr12:58022200-58024400	ZNF genes & repeats	Fetal Brain Female	brain
12	chr12:58022600-58025600	Weak transcription	Gastric	stomach
13	chr12:58023000-58025600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr12:58023200-58024800	Enhancers	Brain Anterior Caudate	brain
15	chr12:58023400-58024400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr12:58023400-58025400	Enhancers	Brain Cingulate Gyrus	brain
17	chr12:58023800-58024800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr12:58024000-58024600	Genic enhancers	Brain Germinal Matrix	brain
19	chr12:58024000-58024800	Enhancers	Brain Angular Gyrus	brain
20	chr12:58024000-58025000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
21	chr12:58024000-58025000	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr12:58024000-58025800	Enhancers	Brain Substantia Nigra	brain
23	chr12:58024200-58024400	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr12:58024200-58024400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
25	chr12:58024200-58024600	Enhancers	Brain Hippocampus Middle	brain
26	chr12:58024200-58024600	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr12:58024200-58025600	Weak transcription	Psoas Muscle	Psoas

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