Variant report

Variant	rs750658
Chromosome Location	chr14:69289901-69289902
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:68925457..68926328-chr14:69289507..69290123,2	MCF-7	breast:
2	chr14:69281086..69282985-chr14:69289138..69291882,2	K562	blood:
3	chr14:69284387..69286906-chr14:69288096..69291991,4	K562	blood:
4	chr14:69127719..69129737-chr14:69289553..69291881,2	MCF-7	breast:
5	chr14:69282246..69286226-chr14:69289725..69291481,3	MCF-7	breast:
6	chr14:69283985..69288405-chr14:69289661..69293345,5	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10136476	0.84[ASN][1000 genomes]
rs10139345	0.96[ASN][1000 genomes]
rs10143060	0.93[ASN][1000 genomes]
rs10143220	0.93[ASN][1000 genomes]
rs10143529	0.86[ASN][1000 genomes]
rs10873217	0.89[ASN][1000 genomes]
rs11158767	0.94[ASN][1000 genomes]
rs11625403	0.94[ASN][1000 genomes]
rs1274952	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1274953	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1274954	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1295793	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs168962	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1742893	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs183171	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs194714	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs194715	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs194717	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs194730	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs194733	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs194734	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs194739	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs194741	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs194748	0.81[EUR][1000 genomes]
rs194749	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs194778	0.81[CEU][hapmap]
rs402223	0.83[EUR][1000 genomes]
rs4288924	0.88[ASN][1000 genomes]
rs4899259	0.82[EUR][1000 genomes]
rs4902654	0.89[ASN][1000 genomes]
rs7142145	0.94[ASN][1000 genomes]
rs7142589	0.94[ASN][1000 genomes]
rs7149042	0.93[ASN][1000 genomes]
rs7156516	0.82[EUR][1000 genomes]
rs8011558	0.81[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 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
4	nsv902071	chr14:69288432-69328594	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv902072	chr14:69288432-69329149	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv902073	chr14:69288432-69331065	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs750658	ZFP36L1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69283800-69291200	Weak transcription	Brain Germinal Matrix	brain
2	chr14:69284000-69291200	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr14:69284000-69291200	Weak transcription	Right Atrium	heart
4	chr14:69284000-69291400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr14:69284000-69291400	Weak transcription	HSMM	muscle
6	chr14:69284000-69300200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr14:69284200-69291400	Weak transcription	Osteobl	bone
8	chr14:69284200-69305600	Weak transcription	HSMMtube	muscle
9	chr14:69284400-69291200	Weak transcription	Adipose Nuclei	Adipose
10	chr14:69284400-69291400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr14:69284600-69291200	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr14:69285200-69291800	Enhancers	Fetal Muscle Leg	muscle
13	chr14:69285800-69290000	Enhancers	Primary T cells fromperipheralblood	blood
14	chr14:69285800-69290000	Enhancers	Fetal Thymus	thymus
15	chr14:69286000-69291400	Weak transcription	NHDF-Ad	bronchial
16	chr14:69286000-69291800	Enhancers	Fetal Muscle Trunk	muscle
17	chr14:69286400-69291400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr14:69286600-69290800	Weak transcription	Ovary	ovary
19	chr14:69286800-69291200	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr14:69286800-69291200	Weak transcription	NHLF	lung
21	chr14:69286800-69291400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr14:69286800-69291400	Weak transcription	Fetal Heart	heart
23	chr14:69286800-69291400	Weak transcription	NH-A	brain
24	chr14:69286800-69291800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr14:69287000-69291200	Weak transcription	Lung	lung
26	chr14:69287000-69291200	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr14:69287000-69291400	Weak transcription	Colonic Mucosa	Colon
28	chr14:69287000-69291400	Weak transcription	Rectal Smooth Muscle	rectum
29	chr14:69287000-69292000	Enhancers	Primary B cells from peripheral blood	blood
30	chr14:69287200-69291200	Weak transcription	Colon Smooth Muscle	Colon
31	chr14:69287200-69291200	Weak transcription	Fetal Intestine Large	intestine
32	chr14:69287200-69291200	Weak transcription	Hela-S3	cervix
33	chr14:69287200-69291400	Weak transcription	Fetal Stomach	stomach
34	chr14:69287200-69291400	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr14:69287200-69291400	Weak transcription	Stomach Mucosa	stomach
36	chr14:69287200-69302800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr14:69287400-69291400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr14:69287400-69291400	Weak transcription	Duodenum Mucosa	Duodenum
39	chr14:69287600-69291400	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr14:69287800-69291000	Weak transcription	Primary B cells from cord blood	blood
41	chr14:69287800-69291200	Enhancers	Liver	Liver
42	chr14:69287800-69291400	Enhancers	Esophagus	oesophagus
43	chr14:69288200-69290600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr14:69288200-69291200	Weak transcription	Primary T cells from cord blood	blood
45	chr14:69288200-69291400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr14:69288200-69291400	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr14:69288200-69304400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr14:69288400-69290000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr14:69288800-69290800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr14:69288800-69291000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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