Variant report

Variant	rs71357954
Chromosome Location	chr19:22966839-22966840
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs12972707	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12977637	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12978602	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12978992	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12983114	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12983267	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12986388	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16999569	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16999595	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2194111	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34135725	0.86[ASN][1000 genomes]
rs34325504	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34509183	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34971025	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34977013	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35001851	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35078415	0.86[ASN][1000 genomes]
rs35521938	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35540495	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35568863	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs36051846	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6511380	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs71357922	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs71357923	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs71357950	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8106204	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8107024	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3360126	chr19:22209871-23199213	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
2	esv3333410	chr19:22213338-23199725	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
3	nsv525240	chr19:22250912-23216667	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
4	esv3363663	chr19:22320301-23103053	Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
5	nsv911440	chr19:22325391-23216667	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
6	nsv819194	chr19:22336264-23223696	ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
7	nsv911444	chr19:22338142-23198437	ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
8	nsv819205	chr19:22346403-23199700	Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
9	nsv1064071	chr19:22359491-23153773	Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
10	nsv543957	chr19:22359491-23153773	Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
11	nsv932157	chr19:22359492-23192975	Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
12	esv3387241	chr19:22383621-23175441	ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
13	nsv1059925	chr19:22408435-23083293	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
14	nsv1056393	chr19:22408435-23106126	Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
15	esv3496801	chr19:22635989-23028182	Enhancers ZNF genes & repeats Active TSS Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
16	esv3496802	chr19:22635989-23028182	Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
17	nsv911451	chr19:22826728-23198437	Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
18	esv3503765	chr19:22850747-23076590	Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
19	esv3503766	chr19:22850747-23076590	ZNF genes & repeats Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
20	esv3334022	chr19:22902355-23244643	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
21	esv34470	chr19:22922549-23659458	ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	80 gene(s)	inside rSNPs	diseases
22	esv34907	chr19:22922549-23683097	Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	80 gene(s)	inside rSNPs	diseases
23	esv1851229	chr19:22936717-22967974	ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
24	esv1806693	chr19:22937523-22967974	Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
25	nsv911452	chr19:22938518-23216667	ZNF genes & repeats Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
26	nsv978795	chr19:22942300-22974629	ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
27	esv3486089	chr19:22953566-23172539	ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
28	esv3486090	chr19:22953566-23172539	ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:22966200-22967000	Active TSS	Fetal Heart	heart
2	chr19:22966200-22967200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
3	chr19:22966200-22967400	Active TSS	Primary hematopoietic stem cells	blood
4	chr19:22966200-22967400	Active TSS	Duodenum Smooth Muscle	Duodenum
5	chr19:22966200-22967400	Active TSS	Fetal Muscle Leg	muscle
6	chr19:22966200-22967600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr19:22966400-22967000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
8	chr19:22966400-22967000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr19:22966400-22967000	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
10	chr19:22966400-22967000	Active TSS	Duodenum Mucosa	Duodenum
11	chr19:22966400-22967000	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr19:22966400-22967000	Active TSS	Rectal Mucosa Donor 31	rectum
13	chr19:22966400-22967200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr19:22966400-22967200	Active TSS	Placenta Amnion	Placenta Amnion
15	chr19:22966400-22967200	Active TSS	Stomach Smooth Muscle	stomach
16	chr19:22966400-22967400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr19:22966400-22967400	Active TSS	Brain Angular Gyrus	brain
18	chr19:22966400-22967400	Active TSS	Brain Anterior Caudate	brain
19	chr19:22966400-22967400	Active TSS	Brain Cingulate Gyrus	brain
20	chr19:22966400-22967400	Active TSS	Brain Hippocampus Middle	brain
21	chr19:22966400-22967400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr19:22966400-22967400	Active TSS	Brain Substantia Nigra	brain
23	chr19:22966400-22967400	ZNF genes & repeats	Colonic Mucosa	Colon
24	chr19:22966400-22967400	Active TSS	Colon Smooth Muscle	Colon
25	chr19:22966400-22967400	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
26	chr19:22966400-22967400	ZNF genes & repeats	Fetal Brain Female	brain
27	chr19:22966400-22967400	Active TSS	Fetal Kidney	kidney
28	chr19:22966400-22967400	Active TSS	Fetal Muscle Trunk	muscle
29	chr19:22966400-22967400	ZNF genes & repeats	Fetal Stomach	stomach
30	chr19:22966400-22967400	Active TSS	Left Ventricle	heart
31	chr19:22966400-22967400	Active TSS	Ovary	ovary
32	chr19:22966400-22967600	Active TSS	Breast Myoepithelial Primary Cells	Breast
33	chr19:22966400-22967600	Active TSS	Right Atrium	heart
34	chr19:22966600-22967000	Active TSS	Fetal Lung	lung
35	chr19:22966600-22967000	Active TSS	Psoas Muscle	Psoas
36	chr19:22966600-22967000	Active TSS	Rectal Mucosa Donor 29	rectum
37	chr19:22966600-22967000	Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr19:22966600-22967000	ZNF genes & repeats	Thymus	Thymus
39	chr19:22966600-22967200	Active TSS	Primary B cells from cord blood	blood
40	chr19:22966600-22967200	ZNF genes & repeats	Esophagus	oesophagus
41	chr19:22966600-22967200	ZNF genes & repeats	Fetal Thymus	thymus
42	chr19:22966600-22967200	ZNF genes & repeats	Lung	lung
43	chr19:22966600-22967200	ZNF genes & repeats	Pancreas	Pancrea
44	chr19:22966600-22967400	ZNF genes & repeats	Placenta	Placenta
45	chr19:22966600-22967400	Active TSS	Rectal Smooth Muscle	rectum
46	chr19:22966600-22967400	Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr19:22966800-22967400	Active TSS	Adipose Nuclei	Adipose
48	chr19:22966800-22967600	Active TSS	Right Ventricle	heart

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