Variant report

Variant	rs935730
Chromosome Location	chr14:80990382-80990383
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1013010	0.93[ASN][1000 genomes]
rs10130859	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10146495	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12147045	0.93[ASN][1000 genomes]
rs12587812	0.98[ASN][1000 genomes]
rs12893026	0.83[ASN][1000 genomes]
rs12894863	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1868631	0.81[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1868632	0.93[CEU][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2044774	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2122430	0.88[ASN][1000 genomes]
rs2122433	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2167149	1.00[CHB][hapmap];0.95[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2197984	0.88[ASN][1000 genomes]
rs2197985	0.88[ASN][1000 genomes]
rs2197987	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2371291	0.93[ASN][1000 genomes]
rs2371292	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2371293	1.00[ASN][1000 genomes]
rs2371294	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2371295	0.83[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2371297	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2371298	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2371299	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.89[TSI][hapmap];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2371300	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2371353	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2888003	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4899770	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4899771	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4899772	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4899773	1.00[CEU][hapmap];0.90[CHB][hapmap];0.91[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4903916	0.87[ASN][1000 genomes]
rs4903917	0.88[ASW][hapmap];0.85[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.96[MKK][hapmap];0.81[TSI][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4903919	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4903920	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4903921	0.81[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.98[ASN][1000 genomes]
rs4903922	1.00[CEU][hapmap];0.89[AFR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4903923	0.89[AFR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4903924	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6574584	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7141716	0.87[ASN][1000 genomes]
rs7143767	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7144280	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7144755	0.81[CEU][hapmap];0.90[CHB][hapmap];0.91[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.81[YRI][hapmap];1.00[ASN][1000 genomes]
rs7156719	1.00[CEU][hapmap];0.90[CHB][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7158378	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7159700	0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7160179	0.81[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs8003205	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.84[MEX][hapmap];0.97[MKK][hapmap];0.94[TSI][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8016077	1.00[ASN][1000 genomes]
rs8020519	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:80951800-81003000	Weak transcription	Psoas Muscle	Psoas
2	chr14:80962200-80997800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr14:80968400-80990400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr14:80971800-80994400	Weak transcription	Primary B cells from cord blood	blood
5	chr14:80978600-81006600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr14:80979600-80991600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr14:80979600-80993200	Weak transcription	Fetal Muscle Leg	muscle
8	chr14:80980400-80993600	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr14:80980600-81001600	Weak transcription	Fetal Lung	lung
10	chr14:80981200-80993000	Weak transcription	Ovary	ovary
11	chr14:80981600-80990400	Weak transcription	Gastric	stomach
12	chr14:80981600-80996000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr14:80981800-80993400	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr14:80982200-80996600	Weak transcription	Primary T cells from cord blood	blood
15	chr14:80982400-80990800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr14:80982800-81002800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr14:80983000-80994200	Weak transcription	Adipose Nuclei	Adipose
18	chr14:80983000-81001600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr14:80983200-80994000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr14:80983200-80994200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr14:80984400-81000600	Weak transcription	Thymus	Thymus
22	chr14:80987600-80993200	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr14:80987600-80994400	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr14:80987800-80993600	Strong transcription	Fetal Thymus	thymus
25	chr14:80988000-80993400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr14:80988000-80993600	Strong transcription	Dnd41	blood
27	chr14:80988000-80997200	Weak transcription	Duodenum Mucosa	Duodenum
28	chr14:80988400-80990800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr14:80988400-80990800	Enhancers	Stomach Mucosa	stomach
30	chr14:80989000-80990800	Enhancers	Muscle Satellite Cultured Cells	--
31	chr14:80989000-80990800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr14:80989200-80990400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr14:80989400-80991000	Enhancers	HUVEC	blood vessel
34	chr14:80989400-80992600	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr14:80989600-80990800	Enhancers	A549	lung
36	chr14:80989600-80992600	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr14:80989600-80993200	Weak transcription	Brain Anterior Caudate	brain
38	chr14:80989800-80990600	Enhancers	Osteobl	bone
39	chr14:80989800-80998000	Weak transcription	HSMM	muscle
40	chr14:80990000-80994000	Weak transcription	Left Ventricle	heart
41	chr14:80990200-80990600	Enhancers	NHDF-Ad	bronchial

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