Variant report

Variant	rs7149271
Chromosome Location	chr14:69272643-69272644
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	chr14:69270505..69278428-chr14:69279681..69285729,13	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10142466	0.98[ASN][1000 genomes]
rs11626883	0.98[ASN][1000 genomes]
rs12889006	0.89[ASN][1000 genomes]
rs1465788	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1595260	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1595261	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17106304	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs17835641	0.98[ASN][1000 genomes]
rs17835647	0.98[ASN][1000 genomes]
rs1836984	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs194748	0.95[ASN][1000 genomes]
rs194749	1.00[ASN][1000 genomes]
rs194751	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs194778	0.95[ASN][1000 genomes]
rs2236262	0.90[ASN][1000 genomes]
rs2236263	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34489253	0.95[ASN][1000 genomes]
rs367677	0.92[ASN][1000 genomes]
rs3742887	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3825568	0.90[ASN][1000 genomes]
rs4899258	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4899259	0.95[ASN][1000 genomes]
rs4902651	0.98[ASN][1000 genomes]
rs6573857	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7156516	0.95[ASN][1000 genomes]
rs8011558	0.92[ASN][1000 genomes]
rs8022092	0.95[ASN][1000 genomes]
rs927292	0.85[AFR][1000 genomes];0.89[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7149271	ZFP36L1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:40 , 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	chr14:69264200-69273200	Weak transcription	Right Atrium	heart
5	chr14:69264200-69273600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr14:69264200-69277800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr14:69264400-69281200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr14:69264800-69273200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr14:69268000-69273200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr14:69269000-69273200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr14:69269200-69273400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr14:69269800-69273200	Weak transcription	Lung	lung
13	chr14:69271400-69273400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr14:69271400-69277000	Enhancers	Colon Smooth Muscle	Colon
15	chr14:69271600-69273400	Enhancers	Stomach Smooth Muscle	stomach
16	chr14:69271600-69281200	Enhancers	Fetal Muscle Leg	muscle
17	chr14:69271600-69281200	Enhancers	Fetal Stomach	stomach
18	chr14:69271800-69273200	Enhancers	Rectal Smooth Muscle	rectum
19	chr14:69271800-69275600	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr14:69271800-69277200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr14:69272000-69272800	Flanking Active TSS	Primary B cells from cord blood	blood
22	chr14:69272000-69273200	Weak transcription	Duodenum Mucosa	Duodenum
23	chr14:69272200-69272800	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr14:69272200-69273200	Flanking Active TSS	Primary B cells from peripheral blood	blood
25	chr14:69272200-69273200	Weak transcription	Fetal Heart	heart
26	chr14:69272200-69273200	Enhancers	GM12878-XiMat	blood
27	chr14:69272200-69273800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr14:69272200-69275200	Enhancers	Small Intestine	intestine
29	chr14:69272200-69275400	Enhancers	Rectal Mucosa Donor 29	rectum
30	chr14:69272200-69275800	Enhancers	Stomach Mucosa	stomach
31	chr14:69272200-69277000	Enhancers	Placenta	Placenta
32	chr14:69272400-69273200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr14:69272400-69274800	Enhancers	NHLF	lung
34	chr14:69272400-69275000	Enhancers	Fetal Intestine Small	intestine
35	chr14:69272400-69276600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr14:69272400-69278600	Enhancers	Fetal Muscle Trunk	muscle
37	chr14:69272400-69279200	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr14:69272600-69273200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr14:69272600-69273200	Enhancers	HepG2	liver
40	chr14:69272600-69273400	Enhancers	HSMMtube	muscle

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