Variant report

Variant	rs2217174
Chromosome Location	chr14:81353875-81353876
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10136404	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1016507	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1025253	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11623023	0.83[EUR][1000 genomes]
rs11623416	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11627019	0.82[ASN][1000 genomes]
rs11627929	0.83[ASN][1000 genomes]
rs12431821	0.83[EUR][1000 genomes]
rs12432357	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12434564	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12886388	0.83[EUR][1000 genomes]
rs12888082	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12892825	0.83[EUR][1000 genomes]
rs12895801	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1458993	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17111270	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs172920	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17542615	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1797670	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2044737	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2044738	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2114703	0.83[EUR][1000 genomes]
rs2162548	0.83[EUR][1000 genomes]
rs2217176	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs228110	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs228111	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs228112	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs228118	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs228120	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs228121	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs228125	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2371457	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2371462	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2556601	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2556605	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2888046	0.83[EUR][1000 genomes]
rs35540104	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3742721	0.83[EUR][1000 genomes]
rs3742722	0.83[EUR][1000 genomes]
rs4899782	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4899783	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4903948	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4903954	0.83[EUR][1000 genomes]
rs61979448	0.83[EUR][1000 genomes]
rs61979449	0.83[EUR][1000 genomes]
rs61979451	0.83[EUR][1000 genomes]
rs61979452	0.84[EUR][1000 genomes]
rs6574613	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67065081	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7141130	0.88[EUR][1000 genomes]
rs71416852	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7143407	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7143744	0.82[EUR][1000 genomes]
rs7148618	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7153979	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7154132	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7154373	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs728444	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs759916	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs759917	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8003784	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8005883	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8006507	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8006864	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8009120	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8021137	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8022411	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81321600-81382200	Weak transcription	Left Ventricle	heart
2	chr14:81329200-81359400	Weak transcription	HSMM	muscle
3	chr14:81336600-81358600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr14:81337200-81357400	Weak transcription	Primary T cells from cord blood	blood
5	chr14:81339600-81359000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr14:81340000-81354400	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr14:81344400-81357400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr14:81345200-81386200	Weak transcription	Aorta	Aorta
9	chr14:81345400-81355800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr14:81345400-81356200	Weak transcription	Primary B cells from cord blood	blood
11	chr14:81346600-81358200	Weak transcription	Stomach Smooth Muscle	stomach
12	chr14:81347200-81358200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr14:81348200-81369200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr14:81348400-81355000	Weak transcription	Primary hematopoietic stem cells	blood
15	chr14:81348400-81357200	Weak transcription	A549	lung
16	chr14:81349200-81356200	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr14:81349200-81357200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr14:81349800-81374800	Weak transcription	Brain Hippocampus Middle	brain
19	chr14:81350400-81355400	Weak transcription	Dnd41	blood
20	chr14:81351200-81380600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr14:81351400-81398400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr14:81351600-81354600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr14:81351800-81372800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr14:81351800-81380000	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr14:81351800-81382000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr14:81352000-81357200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr14:81352000-81357800	Weak transcription	Adipose Nuclei	Adipose
28	chr14:81352200-81356400	Weak transcription	Fetal Thymus	thymus
29	chr14:81352200-81372800	Weak transcription	Thymus	Thymus
30	chr14:81352400-81357400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr14:81353200-81361200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links