Variant report

Variant	rs1956220
Chromosome Location	chr14:33075706-33075707
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10139885	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10140278	0.81[CEU][hapmap]
rs10143113	0.81[CEU][hapmap];0.90[TSI][hapmap]
rs11626506	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11627076	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11627566	0.95[GIH][hapmap];0.84[MEX][hapmap];0.80[AMR][1000 genomes]
rs11627900	0.81[CEU][hapmap];0.85[TSI][hapmap]
rs12147120	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12433067	0.86[CEU][hapmap];0.84[MEX][hapmap];0.90[TSI][hapmap]
rs12586675	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12586676	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12888621	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1956201	0.95[CEU][hapmap];0.93[GIH][hapmap];0.88[TSI][hapmap];0.89[EUR][1000 genomes]
rs1956214	0.87[MEX][hapmap]
rs2180449	0.85[GIH][hapmap];0.88[MEX][hapmap];0.80[AMR][1000 genomes]
rs7152377	0.90[CEU][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7153041	0.95[CEU][hapmap];0.81[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7154943	1.00[CEU][hapmap];0.95[GIH][hapmap];0.80[MEX][hapmap];0.88[TSI][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7159519	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.87[TSI][hapmap];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7160301	0.81[CEU][hapmap];0.83[TSI][hapmap]
rs733978	0.83[MEX][hapmap]
rs8016257	0.90[CEU][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8021432	0.95[CEU][hapmap];0.90[EUR][1000 genomes]
rs983766	0.95[CEU][hapmap];0.93[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[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	nsv1045035	chr14:32986003-33543227	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv542021	chr14:32986003-33543227	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv428624	chr14:33065571-33214223	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:33057800-33078200	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr14:33064800-33079600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr14:33067400-33077800	Weak transcription	HSMM	muscle
4	chr14:33069800-33080000	Weak transcription	Fetal Brain Female	brain
5	chr14:33071000-33076400	Weak transcription	Colon Smooth Muscle	Colon
6	chr14:33071200-33076400	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr14:33071800-33076600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr14:33072000-33076200	Enhancers	GM12878-XiMat	blood
9	chr14:33072000-33078600	Weak transcription	Stomach Smooth Muscle	stomach
10	chr14:33072200-33103600	Weak transcription	Fetal Muscle Trunk	muscle
11	chr14:33072400-33076000	Weak transcription	NHDF-Ad	bronchial
12	chr14:33072400-33076600	Weak transcription	Brain Substantia Nigra	brain
13	chr14:33072400-33077800	Weak transcription	Brain Hippocampus Middle	brain
14	chr14:33072400-33078000	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr14:33072400-33078200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr14:33072400-33078200	Weak transcription	Fetal Muscle Leg	muscle
17	chr14:33072400-33078400	Weak transcription	Brain Angular Gyrus	brain
18	chr14:33072400-33091800	Weak transcription	Left Ventricle	heart
19	chr14:33072600-33078400	Weak transcription	Aorta	Aorta
20	chr14:33072800-33076400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr14:33072800-33078000	Weak transcription	Brain Anterior Caudate	brain
22	chr14:33073600-33076000	Enhancers	Fetal Heart	heart
23	chr14:33075000-33078200	Weak transcription	Psoas Muscle	Psoas
24	chr14:33075000-33078600	Weak transcription	Right Atrium	heart
25	chr14:33075400-33076000	Enhancers	HMEC	breast
26	chr14:33075600-33076400	Strong transcription	HSMMtube	muscle
27	chr14:33075600-33076600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr14:33075600-33077000	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr14:33075600-33081600	Enhancers	Skeletal Muscle Female	skeletal muscle

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