Variant report

Variant	rs4933038
Chromosome Location	chr19:22967355-22967356
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs12973264	0.81[EUR][1000 genomes]
rs12974988	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12975027	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12977975	0.90[ASN][1000 genomes]
rs12979264	0.82[EUR][1000 genomes]
rs12983745	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12983770	0.90[ASN][1000 genomes]
rs12983973	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16999554	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16999598	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2194112	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2617779	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34160438	0.87[ASN][1000 genomes]
rs34264813	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34373479	0.87[ASN][1000 genomes]
rs34425596	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34697062	0.87[ASN][1000 genomes]
rs34752785	0.86[ASN][1000 genomes]
rs35059874	0.87[ASN][1000 genomes]
rs35735434	0.87[ASN][1000 genomes]
rs368144	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs386119	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3925175	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs396440	0.91[ASN][1000 genomes]
rs398945	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs403717	0.91[ASN][1000 genomes]
rs423687	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs427709	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs433579	0.91[ASN][1000 genomes]
rs437859	0.91[ASN][1000 genomes]
rs446058	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs453723	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4933024	0.81[EUR][1000 genomes]
rs4933026	0.82[EUR][1000 genomes]
rs4933036	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55675097	0.81[EUR][1000 genomes]
rs56276210	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56356904	0.82[EUR][1000 genomes]
rs58238799	0.87[ASN][1000 genomes]
rs62120125	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62120298	0.81[EUR][1000 genomes]
rs62120780	0.87[ASN][1000 genomes]
rs62120784	0.86[ASN][1000 genomes]
rs6511383	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66825312	0.87[ASN][1000 genomes]
rs67628543	0.86[ASN][1000 genomes]
rs7246424	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7247191	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7249685	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7256135	0.87[ASN][1000 genomes]
rs7257236	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7257255	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7257333	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7257731	0.86[ASN][1000 genomes]
rs7258337	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7351072	0.87[ASN][1000 genomes]
rs7351073	0.86[ASN][1000 genomes]
rs8103204	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8103875	0.81[EUR][1000 genomes]
rs8107724	0.81[EUR][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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:22966200-22967400	Active TSS	Primary hematopoietic stem cells	blood
2	chr19:22966200-22967400	Active TSS	Duodenum Smooth Muscle	Duodenum
3	chr19:22966200-22967400	Active TSS	Fetal Muscle Leg	muscle
4	chr19:22966200-22967600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr19:22966400-22967400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr19:22966400-22967400	Active TSS	Brain Angular Gyrus	brain
7	chr19:22966400-22967400	Active TSS	Brain Anterior Caudate	brain
8	chr19:22966400-22967400	Active TSS	Brain Cingulate Gyrus	brain
9	chr19:22966400-22967400	Active TSS	Brain Hippocampus Middle	brain
10	chr19:22966400-22967400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr19:22966400-22967400	Active TSS	Brain Substantia Nigra	brain
12	chr19:22966400-22967400	ZNF genes & repeats	Colonic Mucosa	Colon
13	chr19:22966400-22967400	Active TSS	Colon Smooth Muscle	Colon
14	chr19:22966400-22967400	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
15	chr19:22966400-22967400	ZNF genes & repeats	Fetal Brain Female	brain
16	chr19:22966400-22967400	Active TSS	Fetal Kidney	kidney
17	chr19:22966400-22967400	Active TSS	Fetal Muscle Trunk	muscle
18	chr19:22966400-22967400	ZNF genes & repeats	Fetal Stomach	stomach
19	chr19:22966400-22967400	Active TSS	Left Ventricle	heart
20	chr19:22966400-22967400	Active TSS	Ovary	ovary
21	chr19:22966400-22967600	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr19:22966400-22967600	Active TSS	Right Atrium	heart
23	chr19:22966600-22967400	ZNF genes & repeats	Placenta	Placenta
24	chr19:22966600-22967400	Active TSS	Rectal Smooth Muscle	rectum
25	chr19:22966600-22967400	Active TSS	Skeletal Muscle Female	skeletal muscle
26	chr19:22966800-22967400	Active TSS	Adipose Nuclei	Adipose
27	chr19:22966800-22967600	Active TSS	Right Ventricle	heart
28	chr19:22967000-22967400	Active TSS	Brain Inferior Temporal Lobe	brain

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