Variant report

Variant	rs6667192
Chromosome Location	chr1:213123172-213123173
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF143	chr1:213123127-213123733	H1-hESC	embryonic stem cell:	n/a	n/a
2	MTA3	chr1:213123114-213124782	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:213118180..213120592-chr1:213121155..213123228,2	K562	blood:

Variant related genes	Relation type
VASH2	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10127459	0.80[EUR][1000 genomes]
rs12563331	0.91[ASN][1000 genomes]
rs17020044	0.93[GIH][hapmap]
rs17020046	0.90[CEU][hapmap];0.95[EUR][1000 genomes]
rs3738804	1.00[JPT][hapmap]
rs57244386	0.91[ASN][1000 genomes]
rs58826561	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59252582	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs59579946	0.91[ASN][1000 genomes]
rs59870594	0.91[ASN][1000 genomes]
rs6656706	0.91[CEU][hapmap];0.84[TSI][hapmap];0.97[EUR][1000 genomes]
rs6656738	0.90[CEU][hapmap];0.89[TSI][hapmap];0.89[EUR][1000 genomes]
rs6674283	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6680470	1.00[CEU][hapmap];0.89[TSI][hapmap];0.97[EUR][1000 genomes]
rs903802	0.92[EUR][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	nsv1008594	chr1:213110654-213236750	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6667192	G0S2	cis	parietal	SCAN
rs6667192	PFKFB2	cis	cerebellum	SCAN
rs6667192	ANGEL2	cis	parietal	SCAN

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213116400-213123400	Weak transcription	Right Atrium	heart
2	chr1:213122600-213123200	Enhancers	GM12878-XiMat	blood
3	chr1:213122600-213123400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:213122800-213123200	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
5	chr1:213122800-213123200	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr1:213122800-213123400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:213122800-213123400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
8	chr1:213122800-213123600	Enhancers	Pancreas	Pancrea
9	chr1:213123000-213123200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
10	chr1:213123000-213123200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:213123000-213123200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:213123000-213123200	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr1:213123000-213123200	Enhancers	Fetal Brain Female	brain
14	chr1:213123000-213123400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr1:213123000-213123400	Bivalent Enhancer	Brain Angular Gyrus	brain
16	chr1:213123000-213123400	Enhancers	Colonic Mucosa	Colon
17	chr1:213123000-213123400	Enhancers	Fetal Muscle Trunk	muscle
18	chr1:213123000-213123400	Enhancers	Fetal Muscle Leg	muscle
19	chr1:213123000-213123400	Enhancers	HSMM	muscle
20	chr1:213123000-213123600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr1:213123000-213123600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr1:213123000-213124000	Active TSS	Brain Germinal Matrix	brain
23	chr1:213123000-213124200	Active TSS	Right Ventricle	heart
24	chr1:213123000-213125000	Active TSS	Brain Cingulate Gyrus	brain

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