Variant report

Variant	rs194748
Chromosome Location	chr14:69275089-69275090
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:68405658..68408648-chr14:69273942..69276628,2	MCF-7	breast:
2	chr14:69273277..69275385-chr14:69276944..69279019,2	K562	blood:
3	chr14:69270505..69278428-chr14:69279681..69285729,13	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10142466	0.93[ASN][1000 genomes]
rs11626883	0.93[ASN][1000 genomes]
rs1274952	0.82[EUR][1000 genomes]
rs1274953	0.82[EUR][1000 genomes]
rs1274954	0.82[EUR][1000 genomes]
rs12889006	0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs1295793	0.82[EUR][1000 genomes]
rs1465788	0.93[JPT][hapmap];0.92[ASN][1000 genomes]
rs1595260	0.93[JPT][hapmap];0.92[ASN][1000 genomes]
rs1595261	0.97[ASN][1000 genomes]
rs168962	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17106304	0.97[ASN][1000 genomes]
rs1742893	0.82[EUR][1000 genomes]
rs17835641	0.93[ASN][1000 genomes]
rs17835647	0.93[ASN][1000 genomes]
rs183171	0.82[EUR][1000 genomes]
rs1836984	0.90[ASN][1000 genomes]
rs194714	0.83[EUR][1000 genomes]
rs194715	0.82[EUR][1000 genomes]
rs194717	0.81[EUR][1000 genomes]
rs194730	0.80[EUR][1000 genomes]
rs194733	0.81[EUR][1000 genomes]
rs194734	0.81[EUR][1000 genomes]
rs194739	0.81[EUR][1000 genomes]
rs194741	0.81[EUR][1000 genomes]
rs194749	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs194751	0.97[ASN][1000 genomes]
rs194778	0.84[CHB][hapmap];0.93[JPT][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2236262	0.81[JPT][hapmap];0.85[ASN][1000 genomes]
rs2236263	0.86[CHB][hapmap];0.93[JPT][hapmap];0.97[ASN][1000 genomes]
rs34489253	0.90[ASN][1000 genomes]
rs367677	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3742887	0.86[CHB][hapmap];0.93[JPT][hapmap];0.97[ASN][1000 genomes]
rs3825568	0.81[JPT][hapmap];0.85[ASN][1000 genomes]
rs402223	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4899258	0.95[ASN][1000 genomes]
rs4899259	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902651	0.93[ASN][1000 genomes]
rs6573857	0.93[JPT][hapmap];0.91[ASN][1000 genomes]
rs7146217	0.81[JPT][hapmap]
rs7149271	0.95[ASN][1000 genomes]
rs7156516	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs750658	0.81[EUR][1000 genomes]
rs8011558	0.85[CHB][hapmap];0.93[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8022092	0.90[ASN][1000 genomes]
rs927292	0.86[CHB][hapmap];0.93[JPT][hapmap];0.94[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
rs194748	ZFP36L1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69264200-69277800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr14:69264400-69281200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr14:69271400-69277000	Enhancers	Colon Smooth Muscle	Colon
4	chr14:69271600-69281200	Enhancers	Fetal Muscle Leg	muscle
5	chr14:69271600-69281200	Enhancers	Fetal Stomach	stomach
6	chr14:69271800-69275600	Enhancers	Duodenum Smooth Muscle	Duodenum
7	chr14:69271800-69277200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr14:69272200-69275200	Enhancers	Small Intestine	intestine
9	chr14:69272200-69275400	Enhancers	Rectal Mucosa Donor 29	rectum
10	chr14:69272200-69275800	Enhancers	Stomach Mucosa	stomach
11	chr14:69272200-69277000	Enhancers	Placenta	Placenta
12	chr14:69272400-69276600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr14:69272400-69278600	Enhancers	Fetal Muscle Trunk	muscle
14	chr14:69272400-69279200	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr14:69272800-69275400	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr14:69272800-69276800	Enhancers	Primary B cells from cord blood	blood
17	chr14:69272800-69277200	Enhancers	Fetal Intestine Large	intestine
18	chr14:69272800-69277200	Enhancers	Pancreas	Pancrea
19	chr14:69273000-69275200	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr14:69273000-69276600	Enhancers	Ovary	ovary
21	chr14:69273200-69275200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr14:69273200-69275400	Enhancers	Liver	Liver
23	chr14:69273200-69275600	Enhancers	Colonic Mucosa	Colon
24	chr14:69273200-69275800	Enhancers	Esophagus	oesophagus
25	chr14:69273200-69275800	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr14:69273200-69276400	Enhancers	Adipose Nuclei	Adipose
27	chr14:69273200-69276400	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr14:69273200-69276600	Enhancers	Spleen	Spleen
29	chr14:69273200-69276800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr14:69273200-69277200	Enhancers	Lung	lung
31	chr14:69273400-69275200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr14:69273400-69275800	Flanking Active TSS	Stomach Smooth Muscle	stomach
33	chr14:69273800-69275600	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr14:69274000-69275400	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr14:69274000-69277000	Enhancers	Rectal Smooth Muscle	rectum
36	chr14:69274000-69278400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr14:69274000-69278400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr14:69274000-69278800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr14:69274000-69281000	Weak transcription	Aorta	Aorta
40	chr14:69274000-69281000	Weak transcription	Fetal Brain Male	brain
41	chr14:69274200-69275800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr14:69274200-69276400	Weak transcription	Right Ventricle	heart
43	chr14:69274200-69278800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr14:69274200-69279000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr14:69274200-69279200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr14:69274200-69279400	Weak transcription	GM12878-XiMat	blood
47	chr14:69274200-69279600	Weak transcription	Thymus	Thymus
48	chr14:69274200-69280000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr14:69274200-69280000	Weak transcription	Brain Substantia Nigra	brain
50	chr14:69274200-69280000	Weak transcription	Psoas Muscle	Psoas

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