Variant report

Variant	rs1063973
Chromosome Location	chr19:52091782-52091783
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:52086597..52088901-chr19:52091114..52092940,2	K562	blood:
2	chr19:52076323..52078140-chr19:52090638..52092844,2	K562	blood:

Variant related genes	Relation type
ENSG00000105497	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12973066	0.87[ASN][1000 genomes]
rs12973225	0.87[ASN][1000 genomes]
rs17660487	0.87[ASN][1000 genomes]
rs35589997	0.87[ASN][1000 genomes]
rs35936222	0.87[ASN][1000 genomes]
rs3752	0.87[ASN][1000 genomes]
rs45541134	0.87[ASN][1000 genomes]
rs56231308	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57351606	1.00[ASN][1000 genomes]
rs58301181	1.00[ASN][1000 genomes]
rs59191415	0.87[ASN][1000 genomes]
rs67770878	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066308	chr19:51680133-52103974	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv544049	chr19:51680133-52103974	Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	nsv544051	chr19:51944903-52147459	Bivalent Enhancer Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	esv2758504	chr19:51991896-52266700	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	542 gene(s)	inside rSNPs	diseases
5	esv2758767	chr19:51991896-52604625	Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	578 gene(s)	inside rSNPs	diseases
6	nsv469584	chr19:52001381-52151821	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	nsv482654	chr19:52001381-52151821	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
8	nsv579966	chr19:52075622-52131119	Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
9	nsv482909	chr19:52091735-52266700	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	533 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52075800-52096800	Weak transcription	HepG2	liver
2	chr19:52077000-52097000	Weak transcription	Hela-S3	cervix
3	chr19:52081600-52092000	ZNF genes & repeats	Liver	Liver
4	chr19:52086600-52093200	ZNF genes & repeats	K562	blood
5	chr19:52086800-52091800	ZNF genes & repeats	A549	lung
6	chr19:52086800-52092000	ZNF genes & repeats	Primary T cells from cord blood	blood
7	chr19:52087000-52091800	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
8	chr19:52087000-52091800	ZNF genes & repeats	GM12878-XiMat	blood
9	chr19:52087000-52092000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
10	chr19:52087400-52091800	ZNF genes & repeats	Osteobl	bone
11	chr19:52087400-52092000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr19:52087400-52092600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
13	chr19:52087600-52091800	ZNF genes & repeats	Primary B cells from cord blood	blood
14	chr19:52087600-52091800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr19:52087800-52091800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
16	chr19:52088000-52091800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr19:52088000-52092000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr19:52088200-52092000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
19	chr19:52088400-52091800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr19:52088600-52092000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr19:52088600-52092000	ZNF genes & repeats	HUVEC	blood vessel
22	chr19:52089000-52091800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr19:52089000-52092000	ZNF genes & repeats	Fetal Muscle Trunk	muscle
24	chr19:52089200-52091800	ZNF genes & repeats	Fetal Brain Female	brain
25	chr19:52089200-52091800	ZNF genes & repeats	Fetal Lung	lung
26	chr19:52089200-52092000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr19:52089200-52092000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
28	chr19:52089200-52092000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
29	chr19:52089200-52092000	ZNF genes & repeats	HSMMtube	muscle
30	chr19:52089200-52092000	ZNF genes & repeats	NH-A	brain
31	chr19:52089200-52092600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
32	chr19:52089400-52091800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr19:52089400-52091800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
34	chr19:52089400-52091800	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr19:52089400-52091800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
36	chr19:52089400-52091800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
37	chr19:52089400-52091800	ZNF genes & repeats	HSMM	muscle
38	chr19:52089400-52091800	ZNF genes & repeats	NHLF	lung
39	chr19:52089400-52092000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
40	chr19:52089600-52091800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
41	chr19:52089600-52091800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
42	chr19:52089600-52091800	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
43	chr19:52089800-52091800	ZNF genes & repeats	Fetal Brain Male	brain
44	chr19:52090000-52091800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
45	chr19:52090400-52091800	ZNF genes & repeats	Fetal Heart	heart
46	chr19:52090800-52092000	ZNF genes & repeats	Psoas Muscle	Psoas
47	chr19:52091000-52091800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr19:52091200-52096000	Weak transcription	Pancreas	Pancrea
49	chr19:52091200-52096200	Weak transcription	Brain Cingulate Gyrus	brain
50	chr19:52091200-52096400	Weak transcription	Brain Substantia Nigra	brain

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