Variant report

Variant	rs73531897
Chromosome Location	chr19:21242563-21242564
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:21241318-21244493	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:21236568..21238876-chr19:21241377..21243478,2	K562	blood:

Variant related genes	Relation type
VN1R80P	TF binding region
ENSG00000265650	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10406359	1.00[AMR][1000 genomes]
rs10418266	1.00[AMR][1000 genomes]
rs17447963	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2098682	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57505697	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57601660	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57981503	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58002329	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58148410	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59609198	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60170851	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60293432	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61179921	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7246695	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7247066	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7247670	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7248199	1.00[AMR][1000 genomes]
rs7259985	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73531819	0.96[AFR][1000 genomes]
rs73531882	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73531886	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73531902	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73533603	1.00[AMR][1000 genomes]
rs73533607	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73533690	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73540426	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73540428	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73540432	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73542615	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73542629	1.00[AMR][1000 genomes]
rs73542640	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73542656	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73544576	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73546304	1.00[AMR][1000 genomes]
rs73546306	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8104371	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8108394	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062776	chr19:20818886-21273361	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv932110	chr19:20818886-21278952	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	esv2763043	chr19:20818886-21290543	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	esv3385528	chr19:21030777-21495566	Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv817536	chr19:21041855-21348237	Strong transcription Enhancers Genic enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	esv1850387	chr19:21109758-21294264	Active TSS ZNF genes & repeats Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv911411	chr19:21184533-21263518	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv578949	chr19:21190572-21244049	ZNF genes & repeats Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
9	nsv960811	chr19:21200306-21371757	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
10	esv3399352	chr19:21232738-21423323	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
11	esv1805898	chr19:21233245-21256249	Strong transcription ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
12	nsv911412	chr19:21233388-21297358	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21204400-21264800	Weak transcription	Right Ventricle	heart
2	chr19:21223000-21244200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr19:21227800-21247200	Weak transcription	HepG2	liver
4	chr19:21230600-21248400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr19:21230800-21243000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr19:21231800-21244600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr19:21232200-21243600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr19:21235200-21242600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr19:21235400-21243200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr19:21236000-21247000	Weak transcription	Pancreas	Pancrea
11	chr19:21236400-21264800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr19:21238400-21248400	Weak transcription	Psoas Muscle	Psoas
13	chr19:21239000-21243200	Weak transcription	K562	blood
14	chr19:21239200-21245400	Weak transcription	Esophagus	oesophagus
15	chr19:21239200-21246800	Weak transcription	Aorta	Aorta
16	chr19:21239800-21249400	Weak transcription	Hela-S3	cervix
17	chr19:21240000-21247400	Weak transcription	Brain Substantia Nigra	brain
18	chr19:21240000-21264800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr19:21240000-21264800	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr19:21240200-21245400	Weak transcription	Ovary	ovary
21	chr19:21240200-21246200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr19:21240200-21247600	Weak transcription	Brain Cingulate Gyrus	brain
23	chr19:21240200-21264800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr19:21240800-21243000	Weak transcription	Colon Smooth Muscle	Colon
25	chr19:21240800-21243800	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr19:21240800-21246800	Weak transcription	Brain Hippocampus Middle	brain
27	chr19:21240800-21250000	Weak transcription	Fetal Thymus	thymus
28	chr19:21240800-21256800	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr19:21241000-21242600	Weak transcription	Fetal Brain Male	brain
30	chr19:21241000-21245400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr19:21241000-21245400	Weak transcription	Brain Germinal Matrix	brain
32	chr19:21241000-21246800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr19:21241000-21246800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr19:21241000-21246800	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr19:21241000-21246800	Weak transcription	Stomach Smooth Muscle	stomach
36	chr19:21241000-21247000	Weak transcription	Osteobl	bone
37	chr19:21241000-21248200	Weak transcription	Brain Angular Gyrus	brain
38	chr19:21241000-21248200	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr19:21241000-21248200	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr19:21241000-21264800	Weak transcription	Gastric	stomach
41	chr19:21241200-21245200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr19:21241200-21245200	Weak transcription	Fetal Stomach	stomach
43	chr19:21241200-21245400	Weak transcription	Left Ventricle	heart
44	chr19:21241200-21245400	Weak transcription	Thymus	Thymus
45	chr19:21241200-21245600	Weak transcription	Fetal Muscle Leg	muscle
46	chr19:21241200-21246000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr19:21241200-21247200	Weak transcription	Adipose Nuclei	Adipose
48	chr19:21241200-21248000	Weak transcription	Fetal Muscle Trunk	muscle
49	chr19:21241200-21251000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr19:21241200-21251000	Weak transcription	NH-A	brain

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