Variant report

Variant	rs2044738
Chromosome Location	chr14:81288131-81288132
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10136404	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1016507	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1025253	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11623023	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11623416	0.86[EUR][1000 genomes]
rs12431821	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12432357	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12434564	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12878945	0.86[ASN][1000 genomes]
rs12880075	0.87[ASN][1000 genomes]
rs12886388	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12888082	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12891585	0.81[EUR][1000 genomes]
rs12892825	0.81[EUR][1000 genomes]
rs12895801	0.85[EUR][1000 genomes]
rs1458993	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17111270	0.85[EUR][1000 genomes]
rs172920	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17542615	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17542712	0.84[ASN][1000 genomes]
rs17614081	0.82[EUR][1000 genomes]
rs1797670	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2044737	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2114703	0.80[EUR][1000 genomes]
rs2162548	0.80[EUR][1000 genomes]
rs2217174	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2217176	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs228110	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs228111	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs228112	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs228118	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs228120	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs228121	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs228125	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2371416	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2371457	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2371462	0.80[EUR][1000 genomes]
rs2556601	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2556605	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2888046	0.80[EUR][1000 genomes]
rs35540104	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3742721	0.80[EUR][1000 genomes]
rs3742722	0.81[EUR][1000 genomes]
rs4523859	0.81[EUR][1000 genomes]
rs4899782	0.86[EUR][1000 genomes]
rs4899783	0.85[EUR][1000 genomes]
rs4903948	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4903954	0.81[EUR][1000 genomes]
rs61979448	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61979449	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61979451	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61979452	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6574613	0.88[EUR][1000 genomes]
rs67065081	0.85[EUR][1000 genomes]
rs7141130	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs71416852	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7142753	0.84[ASN][1000 genomes]
rs7143407	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7148368	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7148618	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7150858	0.80[ASN][1000 genomes]
rs7153979	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7154132	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7154373	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs728444	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs759916	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs759917	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8003784	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8005883	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8006507	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8006864	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8009120	0.80[EUR][1000 genomes]
rs8021137	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8022411	0.86[AMR][1000 genomes];0.88[EUR][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	nsv869348	chr14:80921098-81535754	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv832840	chr14:81270033-81423583	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
3	nsv976358	chr14:81287297-81292051	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81192800-81305400	Weak transcription	Primary B cells from cord blood	blood
2	chr14:81281600-81304200	Weak transcription	Primary T cells from cord blood	blood
3	chr14:81282800-81290000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr14:81283000-81288800	Weak transcription	Aorta	Aorta
5	chr14:81284400-81291800	Strong transcription	Fetal Thymus	thymus
6	chr14:81284600-81291200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr14:81284800-81288200	Weak transcription	Pancreas	Pancrea
8	chr14:81284800-81290000	Weak transcription	Fetal Stomach	stomach
9	chr14:81284800-81290200	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr14:81285000-81290000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr14:81285000-81290800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr14:81285000-81291200	Weak transcription	Fetal Brain Female	brain
13	chr14:81285000-81304600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr14:81285000-81310200	Weak transcription	A549	lung
15	chr14:81285000-81311200	Weak transcription	Ovary	ovary
16	chr14:81285200-81290000	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr14:81285200-81315600	Weak transcription	HSMM	muscle
18	chr14:81285400-81290200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr14:81285600-81290000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr14:81285600-81290000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr14:81286200-81290000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr14:81286200-81290400	Weak transcription	Left Ventricle	heart
23	chr14:81286200-81305800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr14:81286400-81289000	Weak transcription	Fetal Intestine Small	intestine
25	chr14:81286400-81292200	Weak transcription	Brain Hippocampus Middle	brain
26	chr14:81286600-81288200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr14:81286600-81290000	Weak transcription	Stomach Smooth Muscle	stomach
28	chr14:81287000-81288200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr14:81287000-81290200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr14:81287000-81291400	Strong transcription	Dnd41	blood
31	chr14:81287200-81290400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr14:81287400-81290400	Weak transcription	Right Ventricle	heart
33	chr14:81288000-81290000	Strong transcription	Thymus	Thymus
34	chr14:81288000-81291000	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr14:81288000-81291800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr14:81288000-81307800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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