Variant report

Variant	rs74929985
Chromosome Location	chr19:21279235-21279236
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21247400-21289600	Weak transcription	Aorta	Aorta
2	chr19:21265600-21286400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr19:21265600-21295800	Weak transcription	Small Intestine	intestine
4	chr19:21265600-21300000	Weak transcription	Brain Angular Gyrus	brain
5	chr19:21265600-21305200	Weak transcription	Psoas Muscle	Psoas
6	chr19:21265800-21282600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr19:21265800-21289800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr19:21265800-21290600	Weak transcription	Adipose Nuclei	Adipose
9	chr19:21265800-21297200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr19:21265800-21297200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr19:21265800-21299600	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr19:21265800-21299800	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr19:21265800-21302200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr19:21265800-21302800	Weak transcription	Fetal Muscle Trunk	muscle
15	chr19:21265800-21303000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr19:21266000-21286000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr19:21266000-21287600	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr19:21266000-21287800	Weak transcription	Duodenum Mucosa	Duodenum
19	chr19:21266000-21288400	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr19:21266000-21289400	Weak transcription	Primary hematopoietic stem cells	blood
21	chr19:21266000-21290800	Weak transcription	Brain Anterior Caudate	brain
22	chr19:21266000-21290800	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr19:21266000-21290800	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr19:21266000-21292600	Weak transcription	Fetal Kidney	kidney
25	chr19:21266000-21297400	Weak transcription	HUVEC	blood vessel
26	chr19:21266200-21288600	Weak transcription	Thymus	Thymus
27	chr19:21266200-21288800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr19:21266200-21289800	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr19:21266200-21292400	Weak transcription	Primary T cells from cord blood	blood
30	chr19:21266200-21296600	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr19:21266200-21301600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr19:21266400-21288200	Weak transcription	Brain Germinal Matrix	brain
33	chr19:21266600-21279600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr19:21266800-21292600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr19:21267000-21284200	Weak transcription	Fetal Muscle Leg	muscle
36	chr19:21267000-21292800	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr19:21267200-21295800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr19:21267400-21281000	Weak transcription	HMEC	breast
39	chr19:21267400-21282200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr19:21267400-21284000	Weak transcription	Hela-S3	cervix
41	chr19:21267400-21284400	Weak transcription	Osteobl	bone
42	chr19:21267800-21284400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr19:21269200-21281200	Weak transcription	Fetal Intestine Large	intestine
44	chr19:21269800-21281000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr19:21270800-21286400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr19:21271200-21296000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr19:21272600-21284000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr19:21272600-21284000	Weak transcription	Dnd41	blood
49	chr19:21273600-21281800	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr19:21273800-21279400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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