Variant report

Variant	rs4902651
Chromosome Location	chr14:69272125-69272126
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: 50 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10139345	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs10142466	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10143060	0.85[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs10143220	0.85[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs10873217	0.81[EUR][1000 genomes]
rs11158767	0.82[EUR][1000 genomes]
rs11625403	0.82[EUR][1000 genomes]
rs11626883	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12889006	0.86[CHB][hapmap];0.82[JPT][hapmap];0.95[YRI][hapmap];0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1465788	0.87[CHB][hapmap];0.94[CHD][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs1595260	0.93[CHB][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs1595261	0.90[ASN][1000 genomes]
rs168961	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17106304	0.90[ASN][1000 genomes]
rs17835641	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17835647	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1836984	0.93[ASN][1000 genomes]
rs194746	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs194747	0.92[CEU][hapmap];0.84[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs194748	0.93[ASN][1000 genomes]
rs194749	0.98[ASN][1000 genomes]
rs194751	0.90[ASN][1000 genomes]
rs194778	0.89[JPT][hapmap];0.93[ASN][1000 genomes]
rs2236262	0.87[ASW][hapmap];0.96[CEU][hapmap];0.87[CHB][hapmap];0.91[CHD][hapmap];0.93[GIH][hapmap];0.84[JPT][hapmap];0.96[MEX][hapmap];0.93[TSI][hapmap];0.91[YRI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2236263	0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs34489253	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs36132266	0.88[AMR][1000 genomes]
rs367677	0.90[ASN][1000 genomes]
rs3742887	0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs3825568	0.86[ASW][hapmap];0.87[CHB][hapmap];0.91[CHD][hapmap];0.93[GIH][hapmap];0.84[JPT][hapmap];0.83[MEX][hapmap];0.81[TSI][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4288924	0.81[EUR][1000 genomes]
rs4899258	0.98[ASN][1000 genomes]
rs4899259	0.93[ASN][1000 genomes]
rs4899263	0.85[EUR][1000 genomes]
rs4899264	0.81[EUR][1000 genomes]
rs4902647	0.93[GIH][hapmap];0.83[TSI][hapmap]
rs4902653	0.82[EUR][1000 genomes]
rs4902654	0.82[EUR][1000 genomes]
rs6573857	0.87[CHB][hapmap];0.93[JPT][hapmap];0.94[ASN][1000 genomes]
rs7142145	0.82[EUR][1000 genomes]
rs7142589	0.82[EUR][1000 genomes]
rs7149042	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs7149271	0.98[ASN][1000 genomes]
rs7156516	0.93[ASN][1000 genomes]
rs8011558	0.88[CHD][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs8022092	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs927292	0.94[JPT][hapmap];0.87[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
rs4902651	ZFP36L1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:27 , 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	chr14:69264400-69272600	Weak transcription	HSMMtube	muscle
8	chr14:69264400-69281200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr14:69264800-69272200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr14:69264800-69273200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr14:69268000-69273200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr14:69269000-69273200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr14:69269200-69273400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr14:69269800-69273200	Weak transcription	Lung	lung
15	chr14:69271000-69272200	Enhancers	Primary B cells from peripheral blood	blood
16	chr14:69271400-69273400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr14:69271400-69277000	Enhancers	Colon Smooth Muscle	Colon
18	chr14:69271600-69273400	Enhancers	Stomach Smooth Muscle	stomach
19	chr14:69271600-69281200	Enhancers	Fetal Muscle Leg	muscle
20	chr14:69271600-69281200	Enhancers	Fetal Stomach	stomach
21	chr14:69271800-69273200	Enhancers	Rectal Smooth Muscle	rectum
22	chr14:69271800-69275600	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr14:69271800-69277200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr14:69272000-69272200	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr14:69272000-69272200	Enhancers	Fetal Heart	heart
26	chr14:69272000-69272800	Flanking Active TSS	Primary B cells from cord blood	blood
27	chr14:69272000-69273200	Weak transcription	Duodenum Mucosa	Duodenum

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