Variant report

Variant	rs73020631
Chromosome Location	chr19:21264356-21264357
allele	A/G
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	RFX5	chr19:21264301-21265937	SK-N-SH	brain:	n/a	chr19:21264920-21264929 chr19:21264859-21264868 chr19:21264856-21264871

No.	Distal block	Cell Line	Cell type
1	chr19:21238270..21239771-chr19:21264302..21266943,2	K562	blood:
2	chr19:21246343..21248444-chr19:21263959..21266875,2	K562	blood:
3	chr17:57969004..57971186-chr19:21264179..21266125,2	MCF-7	breast:
4	chr19:21264345..21264942-chr7:89975847..89976737,2	Hela-S3	cervix:
5	chr19:21203269..21205162-chr19:21263863..21266449,2	MCF-7	breast:

Variant related genes	Relation type
ZNF714	TF binding region
ENSG00000265650	Chromatin interaction
ENSG00000268598	Chromatin interaction
ENSG00000108423	Chromatin interaction
ENSG00000118620	Chromatin interaction
ENSG00000108443	Chromatin interaction
ENSG00000105793	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10413569	0.89[EUR][1000 genomes]
rs10413841	0.86[EUR][1000 genomes]
rs10416447	0.89[EUR][1000 genomes]
rs10425841	0.98[EUR][1000 genomes]
rs11085427	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11085429	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12052091	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12150909	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12151107	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17618418	0.87[EUR][1000 genomes]
rs2358793	0.95[EUR][1000 genomes]
rs3919641	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3937493	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4580323	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61733856	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66693308	1.00[EUR][1000 genomes]
rs73012909	0.87[EUR][1000 genomes]
rs73012916	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73012919	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73012925	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73012931	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73012943	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73014828	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73014838	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73014844	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73014852	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73014854	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73014855	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73014863	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73014868	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73018961	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73018974	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73018975	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73018978	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73019002	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73020605	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73020608	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73020616	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73020624	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73020625	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73020628	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73020630	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73020636	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73020644	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73020654	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73020661	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73022623	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73022624	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73022630	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73022634	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73022639	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73022640	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73022648	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73022667	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73024637	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73024645	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73024647	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73024648	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73024655	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73024657	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73024662	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73024665	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73024668	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73024670	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73024671	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73024674	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73024675	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73024685	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73024688	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73026655	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73026661	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73026662	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73026693	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	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
8	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
9	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
10	nsv1065384	chr19:21249321-21350698	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
11	nsv911413	chr19:21263518-21347598	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21204400-21264800	Weak transcription	Right Ventricle	heart
2	chr19:21236400-21264800	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr19:21240000-21264800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr19:21240000-21264800	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr19:21240200-21264800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr19:21241000-21264800	Weak transcription	Gastric	stomach
7	chr19:21241200-21264800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr19:21241400-21264800	Weak transcription	HSMMtube	muscle
9	chr19:21241600-21264800	Weak transcription	Brain Anterior Caudate	brain
10	chr19:21241600-21265000	Weak transcription	HMEC	breast
11	chr19:21247200-21264800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr19:21247400-21264800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr19:21247400-21289600	Weak transcription	Aorta	Aorta
14	chr19:21247600-21264800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr19:21247600-21264800	Weak transcription	Ovary	ovary
16	chr19:21247800-21264800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr19:21247800-21264800	Weak transcription	HSMM	muscle
18	chr19:21248400-21264800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr19:21248400-21264800	Weak transcription	Brain Angular Gyrus	brain
20	chr19:21248400-21264800	Weak transcription	Stomach Smooth Muscle	stomach
21	chr19:21248600-21264600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr19:21248600-21264800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr19:21248800-21265000	Weak transcription	Left Ventricle	heart
24	chr19:21249600-21264400	Weak transcription	Primary B cells from cord blood	blood
25	chr19:21249800-21265000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr19:21250000-21264800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr19:21250200-21264800	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr19:21250600-21264600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr19:21250800-21264600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr19:21250800-21264800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr19:21250800-21264800	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr19:21251400-21264800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr19:21251600-21264800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr19:21251800-21264800	Weak transcription	Fetal Stomach	stomach
35	chr19:21252600-21265000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr19:21254800-21264800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr19:21256400-21264600	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr19:21260400-21264800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr19:21260400-21265000	Weak transcription	Primary hematopoietic stem cells	blood
40	chr19:21260600-21264800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr19:21261200-21265000	Weak transcription	Spleen	Spleen
42	chr19:21261800-21264800	Weak transcription	Esophagus	oesophagus
43	chr19:21262200-21265000	Weak transcription	Right Atrium	heart
44	chr19:21262200-21265000	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr19:21262400-21265000	Weak transcription	Small Intestine	intestine
46	chr19:21262600-21264800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr19:21262800-21264800	Weak transcription	Placenta	Placenta
48	chr19:21263000-21264800	Weak transcription	K562	blood
49	chr19:21263000-21265000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr19:21263000-21265000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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