Variant report

Variant	rs12242265
Chromosome Location	chr10:52611945-52611946
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:52579245..52582235-chr10:52611318..52613230,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10994484	1.00[AMR][1000 genomes]
rs10994486	1.00[AMR][1000 genomes]
rs10994652	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12241999	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12245610	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12246868	1.00[AMR][1000 genomes]
rs12247876	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12248117	1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12248603	1.00[AMR][1000 genomes]
rs12250671	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12250710	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12251965	1.00[AMR][1000 genomes]
rs12252902	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12254249	0.80[YRI][hapmap]
rs12255568	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12256013	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs12257587	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12258558	1.00[AMR][1000 genomes]
rs12261175	1.00[AMR][1000 genomes]
rs12262186	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12263224	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12266425	0.88[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12268784	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12268905	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16909340	1.00[AMR][1000 genomes]
rs4604823	1.00[AMR][1000 genomes]
rs7077103	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7078064	1.00[AMR][1000 genomes]
rs7082887	0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs7094591	0.87[YRI][hapmap];1.00[AMR][1000 genomes]
rs7099856	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][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	nsv1035197	chr10:52446582-52622349	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:52580400-52643200	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr10:52585200-52617200	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr10:52594800-52617200	Weak transcription	Duodenum Mucosa	Duodenum
4	chr10:52598200-52622400	Weak transcription	Fetal Intestine Small	intestine
5	chr10:52602800-52619200	Weak transcription	Fetal Intestine Large	intestine
6	chr10:52605600-52612000	Weak transcription	Pancreas	Pancrea
7	chr10:52608400-52612000	Strong transcription	Liver	Liver
8	chr10:52608800-52612000	Weak transcription	HepG2	liver
9	chr10:52609000-52614200	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr10:52610400-52612600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr10:52610400-52613000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr10:52611000-52614800	Weak transcription	NHEK	skin
13	chr10:52611000-52617200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr10:52611400-52612400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr10:52611800-52616800	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr10:52611800-52617000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr10:52611800-52617200	Weak transcription	HUES48 Cell Line	embryonic stem cell

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