Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:4357926..4359557-chr12:4380560..4382485,2	K562	blood:
2	chr12:4356913..4358779-chr12:4400758..4402412,2	K562	blood:

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11063017	1.00[EUR][1000 genomes]
rs11063033	1.00[EUR][1000 genomes]
rs11063034	1.00[EUR][1000 genomes]
rs11063065	1.00[EUR][1000 genomes]
rs11063066	1.00[EUR][1000 genomes]
rs11835600	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12298350	1.00[EUR][1000 genomes]
rs12298481	1.00[EUR][1000 genomes]
rs12301232	1.00[EUR][1000 genomes]
rs12302183	1.00[EUR][1000 genomes]
rs12306960	1.00[EUR][1000 genomes]
rs12307582	1.00[EUR][1000 genomes]
rs12309433	1.00[EUR][1000 genomes]
rs12310230	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12310388	1.00[EUR][1000 genomes]
rs12314722	1.00[EUR][1000 genomes]
rs12317148	1.00[EUR][1000 genomes]
rs12317697	1.00[EUR][1000 genomes]
rs12319140	1.00[EUR][1000 genomes]
rs12423695	1.00[EUR][1000 genomes]
rs16931423	1.00[EUR][1000 genomes]
rs17177340	1.00[EUR][1000 genomes]
rs17177360	1.00[EUR][1000 genomes]
rs17183536	1.00[EUR][1000 genomes]
rs17183682	1.00[EUR][1000 genomes]
rs17183710	1.00[EUR][1000 genomes]
rs17183723	1.00[EUR][1000 genomes]
rs17183737	1.00[EUR][1000 genomes]
rs17183792	1.00[EUR][1000 genomes]
rs2534781	1.00[EUR][1000 genomes]
rs2540121	1.00[EUR][1000 genomes]
rs2540124	1.00[EUR][1000 genomes]
rs2540125	1.00[EUR][1000 genomes]
rs2540126	1.00[EUR][1000 genomes]
rs2540127	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
3	nsv832317	chr12:4315298-4435615	Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv541360	chr12:4338851-4389238	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr12:4349800-4361600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr12:4352200-4359400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:4352600-4361800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:4353200-4359600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr12:4355400-4359800	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr12:4355600-4359400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:4355600-4359800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr12:4356000-4359000	Weak transcription	Fetal Intestine Small	intestine
9	chr12:4356000-4359400	Weak transcription	Fetal Heart	heart
10	chr12:4356000-4359400	Weak transcription	Fetal Muscle Trunk	muscle
11	chr12:4356000-4360000	Weak transcription	Fetal Thymus	thymus
12	chr12:4356200-4359600	Weak transcription	Primary hematopoietic stem cells	blood
13	chr12:4356400-4359400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr12:4356400-4359400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr12:4356400-4359400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr12:4357600-4359200	Weak transcription	Fetal Muscle Leg	muscle

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