Variant report

Variant	rs3926124
Chromosome Location	chr1:154542092-154542093
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:154529625..154533132-chr1:154541888..154544780,3	K562	blood:
2	chr1:154540365..154542242-chr1:154542275..154545035,2	K562	blood:
3	chr1:154540748..154542499-chr1:154672935..154674987,2	MCF-7	breast:
4	chr1:154539579..154545447-chr1:154547241..154552773,6	K562	blood:

Variant related genes	Relation type
ENSG00000233875	Chromatin interaction
ENSG00000160714	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12057978	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12061860	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12062049	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12062226	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12064031	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12092890	1.00[MEX][hapmap]

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	nsv948413	chr1:153974621-154797272	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
2	nsv521887	chr1:154236570-154684106	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	esv3420395	chr1:154541828-154546226	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154540800-154547000	Weak transcription	Brain Substantia Nigra	brain
2	chr1:154540800-154547400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:154540800-154550600	Weak transcription	Gastric	stomach
4	chr1:154540800-154550800	Weak transcription	HMEC	breast
5	chr1:154540800-154551600	Weak transcription	Pancreas	Pancrea
6	chr1:154541000-154547200	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr1:154541000-154549800	Weak transcription	Right Atrium	heart
8	chr1:154541200-154543600	Weak transcription	Brain Hippocampus Middle	brain
9	chr1:154541200-154550800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr1:154541400-154543000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr1:154541400-154543600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:154541400-154543600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr1:154541400-154543800	Weak transcription	Brain Cingulate Gyrus	brain
14	chr1:154541400-154546800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr1:154541600-154542600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr1:154541600-154542600	Weak transcription	Brain Anterior Caudate	brain
17	chr1:154541600-154542800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:154541600-154543200	Weak transcription	Brain Angular Gyrus	brain
19	chr1:154541600-154543800	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr1:154541600-154543800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr1:154541600-154547200	Weak transcription	Fetal Brain Male	brain
22	chr1:154541800-154543600	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr1:154541800-154545400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr1:154542000-154542200	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr1:154542000-154542200	Genic enhancers	Brain Germinal Matrix	brain
26	chr1:154542000-154547000	Strong transcription	Fetal Brain Female	brain

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