Variant report

Variant	rs2094130
Chromosome Location	chr14:31802061-31802062
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11156667	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11622544	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34247115	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8005942	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[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	esv2830427	chr14:31639110-32000034	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1050597	chr14:31711248-31904761	Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv901589	chr14:31768231-31944723	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2094130	C14orf126	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31762800-31811800	Weak transcription	Fetal Heart	heart
2	chr14:31768000-31805800	Weak transcription	NHEK	skin
3	chr14:31770000-31812600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr14:31770400-31802800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr14:31771000-31888800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr14:31772400-31825200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr14:31774600-31811200	Weak transcription	HUVEC	blood vessel
8	chr14:31782200-31813000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr14:31782200-31814000	Weak transcription	Fetal Kidney	kidney
10	chr14:31782200-31875200	Weak transcription	Gastric	stomach
11	chr14:31782400-31827000	Weak transcription	Aorta	Aorta
12	chr14:31787200-31809200	Weak transcription	NHLF	lung
13	chr14:31789800-31805800	Weak transcription	Stomach Smooth Muscle	stomach
14	chr14:31789800-31806800	Weak transcription	Psoas Muscle	Psoas
15	chr14:31791200-31812600	Weak transcription	Colon Smooth Muscle	Colon
16	chr14:31791600-31806000	Weak transcription	NHDF-Ad	bronchial
17	chr14:31796800-31808800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr14:31797000-31809000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr14:31798200-31807600	Strong transcription	Osteobl	bone
20	chr14:31798400-31804000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr14:31798600-31803800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr14:31798600-31803800	Strong transcription	Fetal Lung	lung
23	chr14:31799200-31805200	Strong transcription	Muscle Satellite Cultured Cells	--
24	chr14:31799600-31802800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr14:31799600-31806000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr14:31799600-31827000	Weak transcription	Right Ventricle	heart
27	chr14:31799800-31802800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr14:31799800-31803000	Weak transcription	NH-A	brain
29	chr14:31799800-31803400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr14:31799800-31803600	Weak transcription	Brain Anterior Caudate	brain
31	chr14:31799800-31805400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr14:31799800-31805800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr14:31799800-31808000	Weak transcription	Lung	lung
34	chr14:31799800-31811800	Weak transcription	Brain Cingulate Gyrus	brain
35	chr14:31799800-31814400	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr14:31799800-31815600	Weak transcription	Colonic Mucosa	Colon
37	chr14:31799800-31829600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr14:31799800-31866800	Weak transcription	Esophagus	oesophagus
39	chr14:31800000-31806200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr14:31800200-31839800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr14:31800400-31803800	Strong transcription	Placenta	Placenta
42	chr14:31800400-31803800	Strong transcription	Skeletal Muscle Female	skeletal muscle
43	chr14:31800400-31807400	Strong transcription	Adipose Nuclei	Adipose
44	chr14:31800400-31838200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr14:31800600-31802400	Strong transcription	Primary B cells from cord blood	blood
46	chr14:31800600-31802400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr14:31800600-31802800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr14:31800600-31804000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr14:31800600-31806400	Weak transcription	Primary T cells from cord blood	blood
50	chr14:31800800-31802400	Strong transcription	Brain Substantia Nigra	brain

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