Variant report

Variant	rs741675
Chromosome Location	chr19:21297631-21297632
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	SETDB1	chr19:21297192-21297790	U2OS	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000256240	TF binding region
RNA5SP469	TF binding region

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs2018491	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28609472	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57518291	0.95[AFR][1000 genomes]
rs61501348	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73533701	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73535716	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73535730	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73537715	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73537719	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8107973	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8109504	0.94[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21265600-21300000	Weak transcription	Brain Angular Gyrus	brain
2	chr19:21265600-21305200	Weak transcription	Psoas Muscle	Psoas
3	chr19:21265800-21299600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr19:21265800-21299800	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr19:21265800-21302200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr19:21265800-21302800	Weak transcription	Fetal Muscle Trunk	muscle
7	chr19:21265800-21303000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr19:21266200-21301600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr19:21275400-21301400	Weak transcription	Fetal Brain Male	brain
10	chr19:21275400-21304600	Weak transcription	Stomach Smooth Muscle	stomach
11	chr19:21275600-21299000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr19:21281800-21300000	Weak transcription	HMEC	breast
13	chr19:21284200-21302600	Weak transcription	Brain Substantia Nigra	brain
14	chr19:21284600-21306800	Weak transcription	Left Ventricle	heart
15	chr19:21285200-21300200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr19:21285200-21302000	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr19:21286000-21300000	Weak transcription	Hela-S3	cervix
18	chr19:21288400-21299000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr19:21288600-21305400	Weak transcription	Fetal Heart	heart
20	chr19:21288800-21300000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr19:21288800-21303600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr19:21290400-21301200	Weak transcription	Placenta	Placenta
23	chr19:21290600-21303400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr19:21291400-21299600	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr19:21291400-21300000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr19:21291600-21298800	Weak transcription	NHEK	skin
27	chr19:21291600-21307800	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr19:21292200-21299200	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr19:21292400-21299200	Weak transcription	Osteobl	bone
30	chr19:21292800-21300000	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr19:21293000-21299200	Weak transcription	Fetal Kidney	kidney
32	chr19:21293000-21299800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr19:21293200-21299000	Weak transcription	HSMM	muscle
34	chr19:21294200-21302200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
35	chr19:21294600-21301800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr19:21295000-21297800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
37	chr19:21295400-21300200	ZNF genes & repeats	Dnd41	blood
38	chr19:21295600-21297800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr19:21295600-21297800	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
40	chr19:21295800-21297800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
41	chr19:21295800-21297800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr19:21295800-21297800	ZNF genes & repeats	Adipose Nuclei	Adipose
43	chr19:21295800-21298000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr19:21295800-21300000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr19:21296000-21297800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr19:21296000-21297800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr19:21296000-21303200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr19:21296200-21304400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr19:21296400-21298000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr19:21296400-21298000	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood

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