Variant report

Variant	rs11624007
Chromosome Location	chr14:105992183-105992184
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	STAT1	chr14:105991879-105992564	Hela-S3	cervix:	n/a	chr14:105992252-105992260 chr14:105992250-105992261
2	MAZ	chr14:105992012-105993939	IMR90	lung:	n/a	chr14:105993815-105993825 chr14:105992759-105992768 chr14:105993368-105993377 chr14:105993648-105993657 chr14:105992779-105992789

No.	Distal block	Cell Line	Cell type
1	chr14:105955528..105958204-chr14:105991803..105994725,5	K562	blood:
2	chr14:105835985..105837885-chr14:105989782..105992568,2	MCF-7	breast:
3	chr14:105942434..105944086-chr14:105990952..105992969,2	MCF-7	breast:
4	chr14:105950525..105959761-chr14:105989345..105997494,25	MCF-7	breast:
5	chr14:105955528..105957871-chr14:105992039..105994502,3	K562	blood:
6	chr14:105991227..105992744-chr14:105993215..105994777,2	MCF-7	breast:
7	chr14:105864789..105866862-chr14:105990673..105993013,2	MCF-7	breast:
8	chr14:105944424..105949494-chr14:105991782..105997266,9	MCF-7	breast:
9	chr14:105950410..105961012-chr14:105989009..105997120,20	MCF-7	breast:

Variant related genes	Relation type
TMEM121	TF binding region
ENSG00000185347	Chromatin interaction
ENSG00000184986	Chromatin interaction
ENSG00000226174	Chromatin interaction
ENSG00000257341	Chromatin interaction
ENSG00000182809	Chromatin interaction
ENSG00000213145	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10133083	0.85[EUR][1000 genomes]
rs10136015	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10139300	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10139744	0.86[EUR][1000 genomes]
rs10142224	0.88[ASW][hapmap]
rs10147392	1.00[CEU][hapmap];0.91[CHB][hapmap];0.88[JPT][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10151805	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10152050	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11622603	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11628497	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12100587	0.95[CHB][hapmap];0.98[CHD][hapmap];0.88[JPT][hapmap];0.90[ASN][1000 genomes]
rs12101234	0.88[ASN][1000 genomes]
rs12717698	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12893999	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13379293	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28402171	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28431397	0.86[EUR][1000 genomes]
rs28620005	0.90[ASN][1000 genomes]
rs28662250	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28733392	0.97[EUR][1000 genomes]
rs35240373	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35471125	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35590487	1.00[CEU][hapmap];0.94[TSI][hapmap];0.96[EUR][1000 genomes]
rs35592422	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35723046	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35921705	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4074453	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4074937	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4075104	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4075105	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs55958808	0.86[EUR][1000 genomes]
rs56057552	0.92[ASN][1000 genomes]
rs56142547	0.82[ASN][1000 genomes]
rs58087925	0.86[EUR][1000 genomes]
rs66710832	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7141834	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7160747	1.00[CEU][hapmap];0.96[GIH][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72713323	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73373742	0.90[ASN][1000 genomes]
rs8003942	1.00[CEU][hapmap];0.91[CHB][hapmap];0.88[JPT][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8004007	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8005568	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8013055	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs8013827	0.95[CEU][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];0.96[GIH][hapmap];0.83[JPT][hapmap];0.94[MEX][hapmap];0.84[TSI][hapmap];0.81[YRI][hapmap];0.89[ASN][1000 genomes]
rs8014713	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8014913	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8021330	0.93[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[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	nsv530813	chr14:105607701-106453697	Strong transcription Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11624007	TMEM121	cis	lymphoblastoid	seeQTL
rs11624007	TMEM121	cis	multi-tissue	Pritchard
rs11624007	C14orf80	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105991800-105992400	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
2	chr14:105991800-105993400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr14:105992000-105992200	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
4	chr14:105992000-105992200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr14:105992000-105992200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr14:105992000-105992200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr14:105992000-105992200	Enhancers	Right Ventricle	heart
8	chr14:105992000-105992200	Active TSS	Stomach Smooth Muscle	stomach
9	chr14:105992000-105992200	Enhancers	A549	lung
10	chr14:105992000-105992400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
11	chr14:105992000-105992400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr14:105992000-105992400	Enhancers	Hela-S3	cervix
13	chr14:105992000-105993200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
14	chr14:105992000-105993200	Active TSS	Fetal Brain Female	brain
15	chr14:105992000-105994000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr14:105992000-105994400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr14:105992000-105994400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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