Variant report

Variant	rs73024648
Chromosome Location	chr19:21291667-21291668
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 91 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10413569	0.87[EUR][1000 genomes]
rs10413841	0.84[EUR][1000 genomes]
rs10416447	0.87[EUR][1000 genomes]
rs10425841	0.95[EUR][1000 genomes]
rs11085427	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11085429	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12052091	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12150909	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12151107	0.88[EUR][1000 genomes]
rs17618418	0.95[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs2358793	0.93[EUR][1000 genomes]
rs3919641	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3937493	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4580323	0.87[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs61733856	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs66693308	0.98[EUR][1000 genomes]
rs73012909	0.85[EUR][1000 genomes]
rs73012916	0.88[EUR][1000 genomes]
rs73012919	0.88[EUR][1000 genomes]
rs73012925	0.88[EUR][1000 genomes]
rs73012931	0.87[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs73012943	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73014828	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73014838	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73014844	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73014852	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73014854	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73014855	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73014863	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73014868	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73018961	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73018974	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73018975	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73018978	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73019002	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73020605	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73020608	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73020616	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73020624	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73020625	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73020628	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73020630	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73020631	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73020636	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73020644	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73020654	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73020661	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73022623	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73022624	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73022630	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73022634	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73022639	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73022640	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73022648	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73022667	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73024637	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73024645	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73024647	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73024655	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73024657	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73024662	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73024665	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73024668	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73024670	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73024671	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73024674	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73024675	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73024685	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73024688	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73026655	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73026661	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73026662	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73026693	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	esv3319019	chr19:21268262-21336383	Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers 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	8 gene(s)	inside rSNPs	diseases
10	esv3319020	chr19:21268262-21336383	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription 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	8 gene(s)	inside rSNPs	diseases
11	esv7695	chr19:21268276-21328430	Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
12	esv5909	chr19:21272333-21334753	Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
13	esv3420290	chr19:21272477-21336432	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
14	esv3391713	chr19:21272485-21334631	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
15	esv5243	chr19:21272548-21334670	Strong transcription Weak transcription Enhancers ZNF genes & repeats 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 miRNA target site	8 gene(s)	inside rSNPs	diseases
16	esv7204	chr19:21274198-21336396	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers 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	8 gene(s)	inside rSNPs	diseases
17	esv3518033	chr19:21278465-21747567	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
18	esv3518034	chr19:21278465-21747567	ZNF genes & repeats Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21265600-21295800	Weak transcription	Small Intestine	intestine
2	chr19:21265600-21300000	Weak transcription	Brain Angular Gyrus	brain
3	chr19:21265600-21305200	Weak transcription	Psoas Muscle	Psoas
4	chr19:21265800-21297200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr19:21265800-21297200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr19:21265800-21299600	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr19:21265800-21299800	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr19:21265800-21302200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr19:21265800-21302800	Weak transcription	Fetal Muscle Trunk	muscle
10	chr19:21265800-21303000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr19:21266000-21292600	Weak transcription	Fetal Kidney	kidney
12	chr19:21266000-21297400	Weak transcription	HUVEC	blood vessel
13	chr19:21266200-21292400	Weak transcription	Primary T cells from cord blood	blood
14	chr19:21266200-21296600	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr19:21266200-21301600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr19:21266800-21292600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr19:21267000-21292800	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr19:21267200-21295800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr19:21271200-21296000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr19:21275400-21292800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr19:21275400-21294200	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr19:21275400-21297200	Weak transcription	Rectal Smooth Muscle	rectum
23	chr19:21275400-21301400	Weak transcription	Fetal Brain Male	brain
24	chr19:21275400-21304600	Weak transcription	Stomach Smooth Muscle	stomach
25	chr19:21275600-21293000	Weak transcription	Primary B cells from cord blood	blood
26	chr19:21275600-21299000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr19:21276200-21293000	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr19:21276400-21293000	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr19:21278200-21292600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr19:21280000-21297400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr19:21281800-21300000	Weak transcription	HMEC	breast
32	chr19:21282600-21292400	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr19:21282800-21293600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr19:21283200-21297200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr19:21283600-21292800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr19:21284200-21302600	Weak transcription	Brain Substantia Nigra	brain
37	chr19:21284600-21296600	Weak transcription	K562	blood
38	chr19:21284600-21306800	Weak transcription	Left Ventricle	heart
39	chr19:21285000-21297200	Weak transcription	HepG2	liver
40	chr19:21285200-21300200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr19:21285200-21302000	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr19:21286000-21300000	Weak transcription	Hela-S3	cervix
43	chr19:21287800-21296000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr19:21288000-21292600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr19:21288200-21296400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr19:21288400-21297000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr19:21288400-21299000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr19:21288600-21305400	Weak transcription	Fetal Heart	heart
49	chr19:21288800-21293000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr19:21288800-21300000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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