Variant report

Variant	rs73924839
Chromosome Location	chr19:19815976-19815977
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	HNF4A	chr19:19815677-19815994	HepG2	liver:	n/a	chr19:19815824-19815839
2	HNF4A	chr19:19815674-19815977	HepG2	liver:	n/a	chr19:19815824-19815839
3	CEBPB	chr19:19815694-19816114	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:19814581..19818356-chr19:19819384..19821651,3	K562	blood:
2	chr19:19814568..19817544-chr19:19975321..19978730,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000270402	TF binding region
ENSG00000270402	Chromatin interaction
ENSG00000256771	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs16996257	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16996259	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16996283	1.00[AMR][1000 genomes]
rs2163812	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56097033	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56795290	1.00[AMR][1000 genomes]
rs58702947	1.00[AMR][1000 genomes]
rs60342904	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73924840	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73924841	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73924842	1.00[AMR][1000 genomes]
rs73924848	1.00[AMR][1000 genomes]
rs73924849	1.00[AMR][1000 genomes]
rs73924852	1.00[AMR][1000 genomes]
rs73924853	1.00[AMR][1000 genomes]
rs73924854	1.00[AMR][1000 genomes]
rs73924856	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1828240	chr19:19591146-19900900	Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1063273	chr19:19591146-20061367	ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	esv3330851	chr19:19755507-19852881	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv519533	chr19:19789528-19831544	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1065704	chr19:19797999-19865818	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription 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	10 gene(s)	inside rSNPs	diseases
6	nsv543929	chr19:19797999-19865818	ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv1062017	chr19:19803482-19865818	Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv543930	chr19:19803482-19865818	Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv1057601	chr19:19803482-19873623	ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
10	nsv1063535	chr19:19806386-19863631	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv1062212	chr19:19806386-19869332	Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	nsv1060122	chr19:19814678-19879575	Bivalent Enhancer ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
13	nsv2436	chr19:19815858-19869171	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19791200-19816800	Weak transcription	Right Ventricle	heart
2	chr19:19808800-19818200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr19:19810800-19830800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
4	chr19:19811000-19816400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
5	chr19:19811600-19833200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr19:19812000-19818000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr19:19813000-19816200	ZNF genes & repeats	Fetal Intestine Small	intestine
8	chr19:19813400-19833000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
9	chr19:19814200-19816000	ZNF genes & repeats	Left Ventricle	heart
10	chr19:19814200-19833200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr19:19814400-19816200	ZNF genes & repeats	Ovary	ovary
12	chr19:19814400-19816400	ZNF genes & repeats	Fetal Lung	lung
13	chr19:19814400-19816400	ZNF genes & repeats	Placenta	Placenta
14	chr19:19814400-19821200	ZNF genes & repeats	Aorta	Aorta
15	chr19:19814400-19822000	ZNF genes & repeats	Fetal Stomach	stomach
16	chr19:19814600-19816000	ZNF genes & repeats	Fetal Intestine Large	intestine
17	chr19:19814600-19816000	ZNF genes & repeats	Lung	lung
18	chr19:19814600-19816000	ZNF genes & repeats	Thymus	Thymus
19	chr19:19814600-19816600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
20	chr19:19814600-19816600	ZNF genes & repeats	Gastric	stomach
21	chr19:19814600-19817200	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
22	chr19:19814600-19818600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
23	chr19:19814600-19831400	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
24	chr19:19814600-19831400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr19:19814600-19833000	ZNF genes & repeats	Adipose Nuclei	Adipose
26	chr19:19814800-19816000	ZNF genes & repeats	Fetal Muscle Trunk	muscle
27	chr19:19814800-19818000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr19:19814800-19831400	ZNF genes & repeats	Fetal Brain Female	brain
29	chr19:19815000-19816200	ZNF genes & repeats	Pancreas	Pancrea
30	chr19:19815000-19817600	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr19:19815200-19828400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr19:19815400-19816400	Weak transcription	Psoas Muscle	Psoas
33	chr19:19815600-19816200	ZNF genes & repeats	Stomach Smooth Muscle	stomach
34	chr19:19815600-19816400	ZNF genes & repeats	Brain Anterior Caudate	brain
35	chr19:19815600-19816400	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
36	chr19:19815600-19816600	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
37	chr19:19815800-19816000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr19:19815800-19816200	ZNF genes & repeats	Primary B cells from cord blood	blood
39	chr19:19815800-19816200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr19:19815800-19816200	ZNF genes & repeats	Fetal Heart	heart
41	chr19:19815800-19816200	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
42	chr19:19815800-19816200	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
43	chr19:19815800-19816200	Enhancers	HepG2	liver
44	chr19:19815800-19816400	ZNF genes & repeats	Brain Cingulate Gyrus	brain
45	chr19:19815800-19816400	ZNF genes & repeats	Brain Substantia Nigra	brain
46	chr19:19815800-19816400	Strong transcription	Dnd41	blood
47	chr19:19815800-19816600	ZNF genes & repeats	Brain Angular Gyrus	brain
48	chr19:19815800-19816600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
49	chr19:19815800-19816800	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
50	chr19:19815800-19831000	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain

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