Variant report

Variant	rs72713323
Chromosome Location	chr14:105968700-105968701
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:105968511..105971018-chr14:105977126..105978783,2	K562	blood:
2	chr14:105967019..105968917-chr14:105969216..105971948,3	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10133083	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10136015	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10139300	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10139744	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10147392	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10151805	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10152050	0.89[EUR][1000 genomes]
rs11622603	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11624007	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11628497	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12717698	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12893999	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13379293	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28402171	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28431397	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34564731	0.97[EUR][1000 genomes]
rs35240373	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35471125	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35511437	0.98[EUR][1000 genomes]
rs35590487	0.81[EUR][1000 genomes]
rs35592422	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35723046	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35921705	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4074453	0.81[EUR][1000 genomes]
rs4074937	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4075104	0.80[EUR][1000 genomes]
rs4075105	0.80[EUR][1000 genomes]
rs55958808	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56057552	0.81[ASN][1000 genomes]
rs56142547	0.94[ASN][1000 genomes]
rs58087925	0.87[EUR][1000 genomes]
rs66710832	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7141834	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7160747	0.89[EUR][1000 genomes]
rs72713322	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8003942	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8004007	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8005568	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8013055	0.80[EUR][1000 genomes]
rs8013827	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8014713	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8014913	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8021330	0.81[EUR][1000 genomes];0.86[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs72713323	TMEM121	cis	Nerve Tibial	GTEx

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105957800-105971800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:105958200-105969200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr14:105958400-105973800	Weak transcription	Primary T cells from cord blood	blood
4	chr14:105960000-105970800	Weak transcription	Fetal Brain Female	brain
5	chr14:105964800-105970600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr14:105965000-105968800	Weak transcription	NHLF	lung
7	chr14:105965400-105968800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr14:105965400-105968800	Weak transcription	Lung	lung
9	chr14:105965600-105969000	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr14:105965600-105969600	Weak transcription	Adipose Nuclei	Adipose
11	chr14:105965600-105970000	Weak transcription	Dnd41	blood
12	chr14:105965600-105974400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr14:105966200-105968800	Weak transcription	Spleen	Spleen
14	chr14:105966400-105969600	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr14:105966600-105970600	Weak transcription	Fetal Intestine Small	intestine
16	chr14:105966800-105969600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr14:105966800-105969600	Weak transcription	Thymus	Thymus
18	chr14:105967000-105970600	Weak transcription	A549	lung
19	chr14:105967000-105970800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr14:105967000-105970800	Enhancers	HepG2	liver
21	chr14:105967200-105970600	Weak transcription	Brain Substantia Nigra	brain
22	chr14:105967400-105970800	Weak transcription	Pancreas	Pancrea

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