Variant report

Variant	rs1956219
Chromosome Location	chr14:33075510-33075511
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10130459	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10138218	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1033678	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10735738	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11156754	0.93[ASN][1000 genomes]
rs11625087	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11626762	0.83[ASN][1000 genomes]
rs12717222	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17099309	0.86[ASN][1000 genomes]
rs17099320	0.86[ASN][1000 genomes]
rs17099324	0.86[ASN][1000 genomes]
rs17099326	0.90[ASN][1000 genomes]
rs1956202	0.82[AMR][1000 genomes]
rs1956212	0.93[ASN][1000 genomes]
rs3784203	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4981992	0.93[ASN][1000 genomes]
rs4981993	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4981995	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61981363	0.96[ASN][1000 genomes]
rs61983021	0.86[ASN][1000 genomes]
rs6571540	1.00[ASN][1000 genomes]
rs6571541	0.93[ASN][1000 genomes]
rs6571547	0.83[AMR][1000 genomes]
rs7146517	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7152044	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7154753	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7156763	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7157328	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7157533	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7157744	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7160156	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73255099	0.90[ASN][1000 genomes]
rs8017249	0.83[ASN][1000 genomes]
rs927060	0.83[AMR][1000 genomes]
rs979494	0.83[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	chr14:33064600-33075600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr14:33064800-33079600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr14:33067400-33077800	Weak transcription	HSMM	muscle
5	chr14:33069800-33080000	Weak transcription	Fetal Brain Female	brain
6	chr14:33071000-33076400	Weak transcription	Colon Smooth Muscle	Colon
7	chr14:33071200-33076400	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr14:33071800-33075600	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr14:33071800-33076600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr14:33072000-33076200	Enhancers	GM12878-XiMat	blood
11	chr14:33072000-33078600	Weak transcription	Stomach Smooth Muscle	stomach
12	chr14:33072200-33103600	Weak transcription	Fetal Muscle Trunk	muscle
13	chr14:33072400-33076000	Weak transcription	NHDF-Ad	bronchial
14	chr14:33072400-33076600	Weak transcription	Brain Substantia Nigra	brain
15	chr14:33072400-33077800	Weak transcription	Brain Hippocampus Middle	brain
16	chr14:33072400-33078000	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr14:33072400-33078200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr14:33072400-33078200	Weak transcription	Fetal Muscle Leg	muscle
19	chr14:33072400-33078400	Weak transcription	Brain Angular Gyrus	brain
20	chr14:33072400-33091800	Weak transcription	Left Ventricle	heart
21	chr14:33072600-33078400	Weak transcription	Aorta	Aorta
22	chr14:33072800-33075600	Weak transcription	HSMMtube	muscle
23	chr14:33072800-33076400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr14:33072800-33078000	Weak transcription	Brain Anterior Caudate	brain
25	chr14:33073600-33076000	Enhancers	Fetal Heart	heart
26	chr14:33075000-33078200	Weak transcription	Psoas Muscle	Psoas
27	chr14:33075000-33078600	Weak transcription	Right Atrium	heart
28	chr14:33075200-33075600	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr14:33075400-33076000	Enhancers	HMEC	breast

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