Variant report

Variant	rs13028008
Chromosome Location	chr2:187586189-187586190
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:187584327..187587895-chr2:187590240..187593578,4	K562	blood:
2	chr2:187557700..187560219-chr2:187585106..187587158,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000144369	Chromatin interaction
ENSG00000227227	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10165992	0.90[EUR][1000 genomes]
rs1072901	0.80[ASN][1000 genomes]
rs10755000	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10931253	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12471718	0.80[ASN][1000 genomes]
rs12618322	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12620821	0.92[ASN][1000 genomes]
rs1448427	0.84[ASN][1000 genomes]
rs17406229	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17406346	0.82[ASN][1000 genomes]
rs2012128	0.87[EUR][1000 genomes]
rs2121975	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2121976	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2460766	0.85[EUR][1000 genomes]
rs2595383	0.86[EUR][1000 genomes]
rs2595386	0.87[EUR][1000 genomes]
rs2595395	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2682863	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2682868	0.96[EUR][1000 genomes]
rs2682873	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3213964	0.85[ASN][1000 genomes]
rs34056045	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34840521	0.84[ASN][1000 genomes]
rs35348196	0.84[ASN][1000 genomes]
rs3816375	0.81[ASN][1000 genomes]
rs4667108	0.81[ASN][1000 genomes]
rs55961288	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56222785	0.80[ASN][1000 genomes]
rs62173041	0.82[ASN][1000 genomes]
rs62196185	0.81[ASN][1000 genomes]
rs6705757	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs930657	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9789704	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv428069	chr2:187575692-187766209	ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187583800-187588600	Weak transcription	Brain Substantia Nigra	brain
2	chr2:187583800-187588800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:187584400-187587800	Weak transcription	Brain Germinal Matrix	brain
4	chr2:187584400-187589000	Weak transcription	Brain Angular Gyrus	brain
5	chr2:187584400-187590400	Weak transcription	Brain Hippocampus Middle	brain
6	chr2:187584600-187587400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr2:187584600-187587800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr2:187584600-187588400	Weak transcription	Fetal Brain Male	brain
9	chr2:187584600-187590200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr2:187584600-187590600	Weak transcription	Fetal Brain Female	brain
11	chr2:187584600-187591600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr2:187584600-187591800	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr2:187584600-187596000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr2:187585600-187587200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr2:187585600-187587600	Enhancers	Brain Anterior Caudate	brain
16	chr2:187585800-187587600	Enhancers	Brain Cingulate Gyrus	brain

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