Variant report

Variant	rs2164627
Chromosome Location	chr14:69268010-69268011
allele	C/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	JUND	chr14:69267033-69268076	Hela-S3	cervix:	n/a	n/a
2	TCF7L2	chr14:69267863-69268059	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr14:69267036-69268053	Hela-S3	cervix:	n/a	chr14:69267273-69267284

Variant related genes	Relation type
ZFP36L1	TF binding region

Extended variants
information (count: 50 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10139199	1.00[ASN][1000 genomes]
rs1051533	0.83[EUR][1000 genomes]
rs11847049	0.83[EUR][1000 genomes]
rs11851414	0.83[EUR][1000 genomes]
rs12147199	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12147461	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1274955	1.00[ASN][1000 genomes]
rs17757282	0.81[AMR][1000 genomes]
rs1898320	1.00[ASN][1000 genomes]
rs194713	1.00[ASN][1000 genomes]
rs194743	1.00[ASN][1000 genomes]
rs4899260	1.00[ASN][1000 genomes]
rs4899262	1.00[ASN][1000 genomes]
rs4902649	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902652	1.00[ASN][1000 genomes]
rs55814645	0.87[AMR][1000 genomes]
rs55885232	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56020080	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56119720	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56232028	0.80[EUR][1000 genomes]
rs58638884	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72731526	0.81[AMR][1000 genomes]
rs72731527	0.81[AMR][1000 genomes]
rs72731529	0.81[AMR][1000 genomes]
rs72731531	0.87[AMR][1000 genomes]
rs72731532	0.84[AMR][1000 genomes]
rs72731534	0.81[AMR][1000 genomes]
rs72731535	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72731537	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72731538	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72731539	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72731544	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72731547	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72731549	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72731550	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72731551	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72731554	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72731564	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72731565	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72731567	1.00[ASN][1000 genomes]
rs72731576	1.00[ASN][1000 genomes]
rs72731577	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72731579	1.00[ASN][1000 genomes]
rs72731581	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs735292	0.87[AMR][1000 genomes]
rs8019383	1.00[ASN][1000 genomes]
rs971290	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035267	chr14:69230254-69348126	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv542123	chr14:69230254-69348126	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
3	nsv902070	chr14:69244214-69308182	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69263200-69273000	Weak transcription	Ovary	ovary
2	chr14:69263200-69273200	Weak transcription	HSMM	muscle
3	chr14:69263600-69273200	Weak transcription	NH-A	brain
4	chr14:69264000-69271600	Weak transcription	Stomach Smooth Muscle	stomach
5	chr14:69264200-69273200	Weak transcription	Right Atrium	heart
6	chr14:69264200-69273600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr14:69264200-69277800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr14:69264400-69272600	Weak transcription	HSMMtube	muscle
9	chr14:69264400-69281200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr14:69264800-69272200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr14:69264800-69273200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr14:69266600-69269200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr14:69266800-69269200	Enhancers	Hela-S3	cervix
14	chr14:69267000-69268200	Enhancers	HMEC	breast
15	chr14:69267200-69268200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr14:69267800-69268400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
17	chr14:69268000-69268200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
18	chr14:69268000-69269200	ZNF genes & repeats	Dnd41	blood
19	chr14:69268000-69273200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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