Variant report

Variant	rs7612334
Chromosome Location	chr3:100532269-100532270
allele	A/G
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	CEBPB	chr3:100532267-100532535	K562	blood:	n/a	chr3:100532372-100532385 chr3:100532374-100532383 chr3:100532374-100532383 chr3:100532372-100532385 chr3:100532374-100532383 chr3:100532372-100532385 chr3:100532372-100532383 chr3:100532374-100532383
2	CEBPB	chr3:100532266-100532519	IMR90	lung:	n/a	chr3:100532372-100532385 chr3:100532374-100532383 chr3:100532374-100532383 chr3:100532372-100532385 chr3:100532374-100532383 chr3:100532372-100532385 chr3:100532372-100532383 chr3:100532374-100532383

Variant related genes	Relation type
ABI3BP	TF binding region

Extended variants
information (count: 42 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10936352	0.81[CEU][hapmap]
rs11716316	0.95[CHB][hapmap];0.85[ASN][1000 genomes]
rs12496951	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13059686	0.81[CEU][hapmap]
rs1394077	0.85[YRI][hapmap]
rs1503839	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1503845	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16842822	0.80[JPT][hapmap]
rs16842845	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1847391	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs34281646	0.95[ASN][1000 genomes]
rs35734168	0.85[ASN][1000 genomes]
rs3736534	0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs3862285	0.91[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs41373752	0.81[CEU][hapmap]
rs4616685	0.91[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs4928085	0.80[JPT][hapmap]
rs544500	0.95[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs547330	0.95[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs58758917	0.87[ASN][1000 genomes]
rs6775161	0.88[CEU][hapmap]
rs6775789	0.81[CEU][hapmap]
rs6810101	0.81[CEU][hapmap]
rs754462	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs7609779	0.85[JPT][hapmap]
rs7613610	0.90[JPT][hapmap]
rs7617184	0.84[CEU][hapmap]
rs7632038	0.85[JPT][hapmap];0.95[YRI][hapmap];0.82[AFR][1000 genomes]
rs7634500	0.86[CEU][hapmap]
rs7642942	0.80[JPT][hapmap]
rs764684	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7653531	0.82[CEU][hapmap]
rs9824346	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs983474	0.84[JPT][hapmap]
rs9840549	0.91[YRI][hapmap]
rs9842968	0.84[JPT][hapmap]
rs9850273	0.90[JPT][hapmap]
rs9879088	0.82[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs989793	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs989794	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs989795	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[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	esv1798221	chr3:100518650-100536284	Genic enhancers Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7612334	TFG	cis	multi-tissue	Pritchard
rs7612334	TFG	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:100505200-100558200	Weak transcription	Ovary	ovary
2	chr3:100505200-100582800	Weak transcription	Fetal Muscle Trunk	muscle
3	chr3:100506000-100548400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr3:100514200-100547600	Weak transcription	Fetal Muscle Leg	muscle
5	chr3:100516000-100572200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr3:100517400-100594400	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr3:100518800-100543000	Weak transcription	Fetal Stomach	stomach
8	chr3:100524200-100537200	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr3:100530000-100535200	Weak transcription	HSMMtube	muscle
10	chr3:100530000-100594400	Weak transcription	HSMM	muscle
11	chr3:100530200-100537200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr3:100530400-100547000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr3:100530600-100532400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr3:100530800-100533000	Weak transcription	Osteobl	bone
15	chr3:100530800-100555400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr3:100531600-100555400	Weak transcription	NHDF-Ad	bronchial

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