Variant report

Variant	rs73927044
Chromosome Location	chr19:22817596-22817597
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs16998143	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16999521	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2082446	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2195953	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4346315	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4346316	0.89[AMR][1000 genomes]
rs4435388	0.89[AMR][1000 genomes]
rs4630692	1.00[AMR][1000 genomes]
rs55884882	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55896822	1.00[EUR][1000 genomes]
rs56105051	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56310711	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7251092	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73924910	1.00[EUR][1000 genomes]
rs73927033	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73927041	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73927045	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73927046	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73927074	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9710634	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 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	nsv911439	chr19:22325391-22820798	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
6	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
7	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
8	nsv911443	chr19:22338142-22899585	Active TSS ZNF genes & repeats Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
9	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
10	nsv911445	chr19:22346403-22899585	Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	esv3529242	chr19:22650256-22863256	Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
21	esv3529243	chr19:22650256-22863256	Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
22	nsv978794	chr19:22815787-22837000	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:22815800-22818000	Active TSS	Muscle Satellite Cultured Cells	--
2	chr19:22816200-22817800	Active TSS	Colonic Mucosa	Colon
3	chr19:22816200-22817800	Active TSS	Rectal Mucosa Donor 29	rectum
4	chr19:22816200-22818000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr19:22816200-22818400	Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr19:22816200-22818400	Active TSS	Monocytes-CD14+_RO01746	blood
7	chr19:22816400-22817600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
8	chr19:22816400-22817600	Active TSS	Primary T helper cells PMA-I stimulated	--
9	chr19:22816400-22817600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
10	chr19:22816400-22817600	Active TSS	Cortex derived primary cultured neurospheres	brain
11	chr19:22816400-22817600	Active TSS	Brain Cingulate Gyrus	brain
12	chr19:22816400-22817600	Active TSS	Brain Hippocampus Middle	brain
13	chr19:22816400-22817600	Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr19:22816400-22817600	Active TSS	Skeletal Muscle Male	skeletal muscle
15	chr19:22816400-22817800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr19:22816400-22817800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr19:22816400-22817800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
18	chr19:22816400-22817800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr19:22816400-22817800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr19:22816400-22817800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr19:22816400-22817800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr19:22816400-22817800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr19:22816400-22817800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
24	chr19:22816400-22817800	Active TSS	Brain Anterior Caudate	brain
25	chr19:22816400-22817800	Active TSS	Colon Smooth Muscle	Colon
26	chr19:22816400-22817800	Active TSS	Fetal Intestine Large	intestine
27	chr19:22816400-22817800	Active TSS	Fetal Intestine Small	intestine
28	chr19:22816400-22817800	Active TSS	Right Ventricle	heart
29	chr19:22816400-22817800	Active TSS	HSMM	muscle
30	chr19:22816400-22817800	Active TSS	NH-A	brain
31	chr19:22816400-22817800	Active TSS	NHLF	lung
32	chr19:22816400-22817800	Active TSS	Osteobl	bone
33	chr19:22816400-22818000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr19:22816400-22818000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr19:22816400-22818000	Active TSS	Fetal Kidney	kidney
36	chr19:22816400-22818200	Active TSS	HSMMtube	muscle
37	chr19:22816400-22818600	Active TSS	NHEK	skin
38	chr19:22816600-22817600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
39	chr19:22816600-22817600	Active TSS	Duodenum Mucosa	Duodenum
40	chr19:22816600-22817600	Active TSS	Esophagus	oesophagus
41	chr19:22816600-22817600	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr19:22816600-22817600	Active TSS	Placenta Amnion	Placenta Amnion
43	chr19:22816600-22817600	Active TSS	Psoas Muscle	Psoas
44	chr19:22816600-22817800	Active TSS	NHDF-Ad	bronchial
45	chr19:22816600-22818000	Active TSS	Fetal Thymus	thymus
46	chr19:22816800-22817600	Active TSS	Brain Substantia Nigra	brain
47	chr19:22816800-22817600	Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr19:22816800-22818000	Active TSS	Dnd41	blood
49	chr19:22817000-22817600	ZNF genes & repeats	Lung	lung
50	chr19:22817000-22818000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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