Variant report

Variant	rs10848982
Chromosome Location	chr12:4230648-4230649
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:4224803..4227436-chr12:4230387..4232084,2	K562	blood:

Variant related genes	Relation type
ENSG00000242444	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10459129	0.91[ASN][1000 genomes]
rs10744631	0.91[ASN][1000 genomes]
rs10774193	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10774197	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10848978	0.83[EUR][1000 genomes]
rs10848979	0.86[EUR][1000 genomes]
rs10848981	0.95[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10848983	0.91[CEU][hapmap];0.86[EUR][1000 genomes]
rs10848984	0.86[EUR][1000 genomes]
rs10848985	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11062999	0.82[EUR][1000 genomes]
rs11063000	0.82[EUR][1000 genomes]
rs11063002	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11063003	0.99[EUR][1000 genomes]
rs11063004	0.91[CEU][hapmap];0.86[EUR][1000 genomes]
rs11063007	0.86[EUR][1000 genomes]
rs11063008	0.88[EUR][1000 genomes]
rs11063009	0.89[EUR][1000 genomes]
rs11063011	0.91[ASN][1000 genomes]
rs11063012	0.91[ASN][1000 genomes]
rs12228949	0.84[EUR][1000 genomes]
rs12229320	0.91[CEU][hapmap];0.89[EUR][1000 genomes]
rs12230013	0.84[EUR][1000 genomes]
rs12579541	0.89[EUR][1000 genomes]
rs12579556	0.89[EUR][1000 genomes]
rs12579813	0.89[EUR][1000 genomes]
rs2003578	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2003579	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2098332	0.80[EUR][1000 genomes]
rs2110592	0.89[EUR][1000 genomes]
rs2160160	0.88[EUR][1000 genomes]
rs2160161	0.89[EUR][1000 genomes]
rs2247533	0.82[EUR][1000 genomes]
rs2358593	0.82[EUR][1000 genomes]
rs2358836	0.89[EUR][1000 genomes]
rs2358837	0.89[EUR][1000 genomes]
rs2724204	0.84[EUR][1000 genomes]
rs3889565	0.83[EUR][1000 genomes]
rs4765769	0.83[EUR][1000 genomes]
rs4766207	0.91[CEU][hapmap];0.89[EUR][1000 genomes]
rs4766208	0.87[EUR][1000 genomes]
rs4766209	0.89[EUR][1000 genomes]
rs4766211	0.89[EUR][1000 genomes]
rs58334161	0.89[EUR][1000 genomes]
rs60789908	0.84[EUR][1000 genomes]
rs6489518	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6489519	0.93[ASN][1000 genomes]
rs7136346	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs741244	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs741245	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs759306	0.86[EUR][1000 genomes]
rs759312	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7967520	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7969060	0.83[EUR][1000 genomes]
rs873613	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9634153	0.89[EUR][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	nsv530520	chr12:3726841-4601757	Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1050474	chr12:4226760-4389238	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4226400-4230800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:4227200-4252000	Weak transcription	Pancreas	Pancrea
3	chr12:4227400-4231000	Enhancers	Fetal Muscle Trunk	muscle
4	chr12:4227800-4231200	Enhancers	Primary hematopoietic stem cells	blood
5	chr12:4228000-4231400	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr12:4228000-4231400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr12:4228800-4231200	Enhancers	Fetal Muscle Leg	muscle
8	chr12:4229200-4245000	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr12:4229800-4231400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr12:4230400-4232600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:4230600-4230800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr12:4230600-4230800	Enhancers	Fetal Thymus	thymus

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