Variant report

Variant	rs2371420
Chromosome Location	chr14:81351474-81351475
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10137041	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10141970	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10142753	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10144692	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11625199	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11627934	0.83[ASN][1000 genomes]
rs1197467	0.81[ASN][1000 genomes]
rs12050342	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12437260	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs170595	0.81[ASN][1000 genomes]
rs170596	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17615020	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1797671	0.81[ASN][1000 genomes]
rs1863765	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1863766	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2010847	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs228119	0.85[ASN][1000 genomes]
rs228122	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs228124	0.83[ASN][1000 genomes]
rs228126	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs228128	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2288347	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2371421	0.83[ASN][1000 genomes]
rs2556603	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2556604	0.83[ASN][1000 genomes]
rs2556606	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2556607	0.85[ASN][1000 genomes]
rs2556608	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2556610	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2556611	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2556612	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2556614	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2556615	0.85[ASN][1000 genomes]
rs2619661	0.81[ASN][1000 genomes]
rs28850656	0.85[ASN][1000 genomes]
rs2888032	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4016442	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4899779	0.85[ASN][1000 genomes]
rs4903943	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4903944	0.85[ASN][1000 genomes]
rs4903945	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4903946	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4903947	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4903949	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58699962	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6574606	0.85[ASN][1000 genomes]
rs6574608	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6574609	0.81[ASN][1000 genomes]
rs6574610	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7140452	0.82[ASN][1000 genomes]
rs7147306	0.82[ASN][1000 genomes]
rs7156306	0.85[ASN][1000 genomes]
rs7157845	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7158936	0.81[ASN][1000 genomes]
rs722906	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72693013	0.81[ASN][1000 genomes]
rs7493314	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs759918	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs768359	0.83[ASN][1000 genomes]
rs8010491	0.82[ASN][1000 genomes]
rs8016507	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8017949	0.90[AMR][1000 genomes];0.97[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:45 , 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	chr14:81338800-81353800	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr14:81339600-81351600	Weak transcription	Brain Substantia Nigra	brain
7	chr14:81339600-81359000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr14:81340000-81354400	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr14:81342800-81352400	Weak transcription	Right Ventricle	heart
10	chr14:81344400-81357400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr14:81344600-81353200	Weak transcription	Fetal Stomach	stomach
12	chr14:81345200-81353200	Weak transcription	Ovary	ovary
13	chr14:81345200-81386200	Weak transcription	Aorta	Aorta
14	chr14:81345400-81355800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr14:81345400-81356200	Weak transcription	Primary B cells from cord blood	blood
16	chr14:81346600-81358200	Weak transcription	Stomach Smooth Muscle	stomach
17	chr14:81347200-81358200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr14:81348200-81369200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr14:81348400-81352800	Weak transcription	Liver	Liver
20	chr14:81348400-81355000	Weak transcription	Primary hematopoietic stem cells	blood
21	chr14:81348400-81357200	Weak transcription	A549	lung
22	chr14:81348800-81353200	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr14:81349200-81352800	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr14:81349200-81356200	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr14:81349200-81357200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr14:81349800-81374800	Weak transcription	Brain Hippocampus Middle	brain
27	chr14:81350000-81351600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr14:81350000-81352200	Strong transcription	Fetal Thymus	thymus
29	chr14:81350400-81352000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr14:81350400-81355400	Weak transcription	Dnd41	blood
31	chr14:81350600-81351800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr14:81350600-81351800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr14:81350600-81352400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr14:81350800-81351800	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
35	chr14:81350800-81351800	ZNF genes & repeats	Esophagus	oesophagus
36	chr14:81350800-81351800	ZNF genes & repeats	Lung	lung
37	chr14:81350800-81352000	Strong transcription	Adipose Nuclei	Adipose
38	chr14:81350800-81352200	Strong transcription	Thymus	Thymus
39	chr14:81350800-81352400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr14:81351200-81351800	ZNF genes & repeats	Spleen	Spleen
41	chr14:81351200-81352400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr14:81351200-81353200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr14:81351200-81380600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr14:81351400-81353000	Weak transcription	Fetal Intestine Small	intestine
45	chr14:81351400-81398400	Weak transcription	Sigmoid Colon	Sigmoid Colon

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