Variant report

Variant	rs194749
Chromosome Location	chr14:69273905-69273906
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:69273277..69275385-chr14:69276944..69279019,2	K562	blood:
2	chr14:69270505..69278428-chr14:69279681..69285729,13	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10142466	0.98[ASN][1000 genomes]
rs11626883	0.98[ASN][1000 genomes]
rs1274952	0.81[EUR][1000 genomes]
rs1274953	0.81[EUR][1000 genomes]
rs1274954	0.81[EUR][1000 genomes]
rs12889006	0.87[CHB][hapmap];0.82[JPT][hapmap];0.89[ASN][1000 genomes]
rs1295793	0.81[EUR][1000 genomes]
rs1465788	0.81[CEU][hapmap];0.87[CHB][hapmap];0.94[CHD][hapmap];0.88[GIH][hapmap];0.94[JPT][hapmap];0.97[ASN][1000 genomes]
rs1595260	0.81[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.97[ASN][1000 genomes]
rs1595261	0.92[ASN][1000 genomes]
rs168962	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17106304	0.92[ASN][1000 genomes]
rs1742893	0.81[EUR][1000 genomes]
rs17835641	0.98[ASN][1000 genomes]
rs17835647	0.98[ASN][1000 genomes]
rs183171	0.81[EUR][1000 genomes]
rs1836984	0.95[ASN][1000 genomes]
rs194714	0.82[EUR][1000 genomes]
rs194715	0.81[EUR][1000 genomes]
rs194717	0.81[EUR][1000 genomes]
rs194733	0.81[CEU][hapmap];0.80[EUR][1000 genomes]
rs194734	0.80[EUR][1000 genomes]
rs194739	0.80[EUR][1000 genomes]
rs194741	0.80[EUR][1000 genomes]
rs194747	0.84[JPT][hapmap]
rs194748	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs194751	0.92[ASN][1000 genomes]
rs194778	1.00[CEU][hapmap];0.89[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2236262	0.87[CHB][hapmap];0.91[CHD][hapmap];0.84[JPT][hapmap];0.90[ASN][1000 genomes]
rs2236263	0.89[JPT][hapmap];0.92[ASN][1000 genomes]
rs34489253	0.95[ASN][1000 genomes]
rs367677	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3742887	0.84[CEU][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs3825568	0.87[CHB][hapmap];0.91[CHD][hapmap];0.84[JPT][hapmap];0.90[ASN][1000 genomes]
rs402223	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4899258	1.00[ASN][1000 genomes]
rs4899259	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4902651	0.98[ASN][1000 genomes]
rs6573857	0.87[CHB][hapmap];0.93[JPT][hapmap];0.96[ASN][1000 genomes]
rs7149271	1.00[ASN][1000 genomes]
rs7156516	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs750658	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs8011558	1.00[CEU][hapmap];0.88[CHD][hapmap];0.93[GIH][hapmap];0.89[JPT][hapmap];0.81[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8022092	0.95[ASN][1000 genomes]
rs927292	0.94[JPT][hapmap];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

Variant related diseases (count:1)

Disease	PMID	Source
Inflammatory bowel disease	23128233	GWAS catalog

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs194749	ZFP36L1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:107 , 50 per page) page: 1 2 3

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	chr14:69272400-69274800	Enhancers	NHLF	lung
13	chr14:69272400-69275000	Enhancers	Fetal Intestine Small	intestine
14	chr14:69272400-69276600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr14:69272400-69278600	Enhancers	Fetal Muscle Trunk	muscle
16	chr14:69272400-69279200	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr14:69272800-69275400	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr14:69272800-69276800	Enhancers	Primary B cells from cord blood	blood
19	chr14:69272800-69277200	Enhancers	Fetal Intestine Large	intestine
20	chr14:69272800-69277200	Enhancers	Pancreas	Pancrea
21	chr14:69273000-69274400	Enhancers	Brain Anterior Caudate	brain
22	chr14:69273000-69274600	Enhancers	Primary T cells fromperipheralblood	blood
23	chr14:69273000-69274600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr14:69273000-69274600	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr14:69273000-69274800	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr14:69273000-69274800	Enhancers	Primary hematopoietic stem cells	blood
27	chr14:69273000-69274800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr14:69273000-69275000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr14:69273000-69275200	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr14:69273000-69276600	Enhancers	Ovary	ovary
31	chr14:69273200-69274000	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr14:69273200-69274000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr14:69273200-69274000	Enhancers	Aorta	Aorta
34	chr14:69273200-69274000	Flanking Active TSS	Rectal Smooth Muscle	rectum
35	chr14:69273200-69274200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr14:69273200-69274200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr14:69273200-69274200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr14:69273200-69274200	Enhancers	Brain Angular Gyrus	brain
39	chr14:69273200-69274200	Enhancers	Psoas Muscle	Psoas
40	chr14:69273200-69274200	Enhancers	Right Ventricle	heart
41	chr14:69273200-69274200	Enhancers	Thymus	Thymus
42	chr14:69273200-69274400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr14:69273200-69274400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr14:69273200-69274400	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr14:69273200-69274400	Enhancers	Brain Hippocampus Middle	brain
46	chr14:69273200-69274400	Enhancers	Fetal Kidney	kidney
47	chr14:69273200-69274400	Enhancers	Placenta Amnion	Placenta Amnion
48	chr14:69273200-69274400	Enhancers	Right Atrium	heart
49	chr14:69273200-69274400	Flanking Active TSS	HepG2	liver
50	chr14:69273200-69274400	Enhancers	K562	blood

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